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 AADAT 51166 genome.wustl.edu 37 4 170990361 170990361 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 170990361 170990361 A C SNP AADAT ENST00000509167 human ensembl 70_37 -1 known silent c.753 p.L251 0.994 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AADAT HGNC AARS 16 genome.wustl.edu 37 16 70302241 70302241 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 70302241 70302241 G A SNP AARS ENST00000261772 human ensembl 70_37 -1 known missense c.1004 p.A335V 1.000 pfam_Ala-tRNA-synth_IIc_N,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,pfscan_Ala-tRNA-synth_IIc_core,prints_Ala-tRNA-lgiase_IIc,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS HGNC AATK 9625 genome.wustl.edu 37 17 79102290 79102290 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 79102290 79102290 C T SNP AATK ENST00000326724 human ensembl 70_37 -1 known missense c.394 p.G132S 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,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 AATK HGNC ABCA10 10349 genome.wustl.edu 37 17 67187321 67187321 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 67187321 67187321 A T SNP ABCA10 ENST00000269081 human ensembl 70_37 -1 known missense c.2007 p.F669L 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ABCA11P 79963 genome.wustl.edu 37 4 419621 419621 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 419621 419621 C T SNP ABCA11P ENST00000451020 human ensembl 70_37 -1 known rna NULL NULL 0.029 - - - no_errors ABCA11P HGNC ABCA12 26154 genome.wustl.edu 37 2 215914364 215914364 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 215914364 215914364 T C SNP ABCA12 ENST00000272895 human ensembl 70_37 -1 known missense c.679 p.K227E 0.260 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ABCA13 154664 genome.wustl.edu 37 7 48285128 48285128 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 48285128 48285128 G A SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known silent c.1410 p.E470 0.677 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ABCA13 154664 genome.wustl.edu 37 7 48312174 48312174 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 48312174 48312174 T C SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.2911 p.Y971H 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ABCA13 154664 genome.wustl.edu 37 7 48315852 48315852 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 48315852 48315852 A C SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.6589 p.N2197H 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ABCA13 154664 genome.wustl.edu 37 7 48318505 48318505 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 48318505 48318505 G T SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known nonsense c.7714 p.E2572* 0.001 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ABCA2 20 genome.wustl.edu 37 9 139915905 139915905 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 139915905 139915905 C T SNP ABCA2 ENST00000265662 human ensembl 70_37 -1 known missense c.836 p.R279H 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ABCA5 23461 genome.wustl.edu 37 17 67310553 67310553 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 67310553 67310553 A G SNP ABCA5 ENST00000392677 human ensembl 70_37 -1 known missense c.4 p.S2P 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ABCA6 23460 genome.wustl.edu 37 17 67101716 67101716 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 67101716 67101716 T G SNP ABCA6 ENST00000284425 human ensembl 70_37 -1 known missense c.2627 p.Y876S 0.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ABCB10 23456 genome.wustl.edu 37 1 229653815 229653815 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 229653815 229653815 T C SNP ABCB10 ENST00000498158 human ensembl 70_37 -1 known rna NULL NULL 0.133 - - - no_errors ABCB10 HGNC ABCB5 340273 genome.wustl.edu 37 7 20738062 20738062 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 20738062 20738062 T G SNP ABCB5 ENST00000258738 human ensembl 70_37 +1 known missense c.708 p.I236M 0.998 superfamily_ABC_transptrTM_dom_typ1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB5 HGNC ABCC2 1244 genome.wustl.edu 37 10 101611285 101611285 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 101611285 101611285 T G SNP ABCC2 ENST00000370449 human ensembl 70_37 +1 known missense c.4535 p.I1512S 1.000 pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ABCC4 10257 genome.wustl.edu 37 13 95899248 95899248 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 95899248 95899248 C T SNP ABCC4 ENST00000376887 human ensembl 70_37 -1 known missense c.287 p.G96E 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ABCD4 5826 genome.wustl.edu 37 14 74764640 74764640 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 74764640 74764640 C T SNP ABCD4 ENST00000356924 human ensembl 70_37 -1 known missense c.418 p.D140N 1.000 pfam_ABC_Ald_N,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_Ald_N,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCD4 HGNC ABCE1 6059 genome.wustl.edu 37 4 146044714 146044714 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 146044714 146044714 T G SNP ABCE1 ENST00000296577 human ensembl 70_37 +1 known silent c.1602 p.V534 0.998 smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E - no_errors ABCE1 HGNC ABCG4 64137 genome.wustl.edu 37 11 119020789 119020789 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 119020789 119020789 G T SNP ABCG4 ENST00000307417 human ensembl 70_37 +1 known missense c.114 p.K38N 1.000 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCG4 HGNC ABI3BP 25890 genome.wustl.edu 37 3 100511564 100511564 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 100511564 100511564 C T SNP ABI3BP ENST00000284322 human ensembl 70_37 -1 known missense c.1937 p.R646Q 0.973 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ABI3BP 25890 genome.wustl.edu 37 3 100605128 100605128 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 100605128 100605128 C A SNP ABI3BP ENST00000284322 human ensembl 70_37 -1 known missense c.522 p.K174N 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ABL1 25 genome.wustl.edu 37 9 133729510 133729510 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 133729510 133729510 C T SNP ABL1 ENST00000372348 human ensembl 70_37 +1 known missense c.196 p.R66C 1.000 superfamily_SH3_domain pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ABR 29 genome.wustl.edu 37 17 1012271 1012271 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 1012271 1012271 T G SNP ABR ENST00000291107 human ensembl 70_37 -1 known missense c.38 p.K13T 1.000 NULL pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ABR 29 genome.wustl.edu 37 17 915136 915136 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 915136 915136 A C SNP ABR ENST00000302538 human ensembl 70_37 -1 known missense c.2051 p.I684R 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ACADL 33 genome.wustl.edu 37 2 211053739 211053739 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 211053739 211053739 A G SNP ACADL ENST00000233710 human ensembl 70_37 -1 known silent c.1239 p.G413 0.875 pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C - no_errors ACADL HGNC ACAT1 38 genome.wustl.edu 37 11 108016992 108016992 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 108016992 108016992 A T SNP ACAT1 ENST00000265838 human ensembl 70_37 +1 known missense c.1069 p.S357C 1.000 pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,pfam_Ketoacyl_synth_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAT1 HGNC ACCSL 390110 genome.wustl.edu 37 11 44074225 44074225 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 44074225 44074225 C T SNP ACCSL ENST00000378832 human ensembl 70_37 +1 known silent c.786 p.V262 0.995 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors ACCSL HGNC ACRC 93953 genome.wustl.edu 37 X 70824092 70824092 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 70824092 70824092 C T SNP ACRC ENST00000373695 human ensembl 70_37 +1 known missense c.965 p.S322L 0.002 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ACSBG2 81616 genome.wustl.edu 37 19 6156561 6156561 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 6156561 6156561 C T SNP ACSBG2 ENST00000252669 human ensembl 70_37 +1 known missense c.506 p.S169L 0.990 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSBG2 HGNC ACSL4 2182 genome.wustl.edu 37 X 108904801 108904801 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 108904801 108904801 C A SNP ACSL4 ENST00000340800 human ensembl 70_37 -1 known missense c.1779 p.K593N 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ACSL4 2182 genome.wustl.edu 37 X 108906587 108906587 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 108906587 108906587 C T SNP ACSL4 ENST00000340800 human ensembl 70_37 -1 known missense c.1558 p.V520I 0.760 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL4 HGNC ACSL5 51703 genome.wustl.edu 37 10 114169418 114169418 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 114169418 114169418 A C SNP ACSL5 ENST00000356116 human ensembl 70_37 +1 known missense c.854 p.E285A 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL5 HGNC ACTBP12 100462767 genome.wustl.edu 37 1 92694442 92694442 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 92694442 92694442 A G SNP ACTBP12 ENST00000594933 human ensembl 70_37 -1 known rna NULL NULL 0.113 - - - no_errors ACTBP12 HGNC ACTC1 70 genome.wustl.edu 37 15 35086895 35086895 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 35086895 35086895 G A SNP ACTC1 ENST00000290378 human ensembl 70_37 -1 known missense c.115 p.R39C 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTC1 HGNC ACTL7B 10880 genome.wustl.edu 37 9 111617835 111617835 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 111617835 111617835 C T SNP ACTL7B ENST00000374667 human ensembl 70_37 -1 known missense c.376 p.V126M 1.000 pfam_Actin-like,smart_Actin-like,prints_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL7B HGNC ACTL8 81569 genome.wustl.edu 37 1 18153014 18153014 + Nonstop_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 18153014 18153014 A G SNP ACTL8 ENST00000375406 human ensembl 70_37 +1 known nonstop c.1101 p.*367W 0.022 NULL pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL8 HGNC ACVR2A 92 genome.wustl.edu 37 2 148654009 148654009 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 148654009 148654009 G T SNP ACVR2A ENST00000241416 human ensembl 70_37 +1 known missense c.195 p.K65N 1.000 pfam_Activin_rcpt pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVR2A HGNC ACVR2A 92 genome.wustl.edu 37 2 148674879 148674879 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 148674879 148674879 G A SNP ACVR2A ENST00000241416 human ensembl 70_37 +1 known missense c.700 p.E234K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Activin_II/TGFBeta-II_recpt - no_errors ACVR2A HGNC ADAM19 8728 genome.wustl.edu 37 5 156997957 156997957 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 156997957 156997957 C A SNP ADAM19 ENST00000394020 human ensembl 70_37 -1 known missense c.132 p.Q44H 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM19 HGNC ADAM2 2515 genome.wustl.edu 37 8 39613390 39613390 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 39613390 39613390 T G SNP ADAM2 ENST00000265708 human ensembl 70_37 -1 known missense c.1654 p.K552Q 0.000 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM2 HGNC ADAM21 8747 genome.wustl.edu 37 14 70924354 70924354 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 70924354 70924354 G T SNP ADAM21 ENST00000267499 human ensembl 70_37 +1 known missense c.138 p.L46F 0.032 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ADAM21 8747 genome.wustl.edu 37 14 70924619 70924619 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 70924619 70924619 G T SNP ADAM21 ENST00000267499 human ensembl 70_37 +1 known missense c.403 p.V135L 0.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ADAM21P1 145241 genome.wustl.edu 37 14 70714445 70714445 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 70714445 70714445 C A SNP ADAM21P1 ENST00000530196 human ensembl 70_37 -1 known rna NULL NULL 0.016 - - - no_errors ADAM21P1 HGNC ADAM22 53616 genome.wustl.edu 37 7 87810903 87810903 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 87810903 87810903 G A SNP ADAM22 ENST00000265727 human ensembl 70_37 +1 known missense c.2492 p.R831Q 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ADAM23 8745 genome.wustl.edu 37 2 207435488 207435488 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 207435488 207435488 A C SNP ADAM23 ENST00000264377 human ensembl 70_37 +1 known missense c.1519 p.N507H 1.000 pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ADAM32 203102 genome.wustl.edu 37 8 39007329 39007329 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 39007329 39007329 G A SNP ADAM32 ENST00000379907 human ensembl 70_37 +1 known missense c.296 p.G99E 1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM32 HGNC ADAMTS10 81794 genome.wustl.edu 37 19 8670176 8670176 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 8670176 8670176 T C SNP ADAMTS10 ENST00000270328 human ensembl 70_37 -1 known silent c.156 p.A52 0.628 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ADAMTS17 170691 genome.wustl.edu 37 15 100594175 100594175 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 100594175 100594175 A G SNP ADAMTS17 ENST00000268070 human ensembl 70_37 -1 known missense c.2222 p.V741A 1.000 pfam_ADAM_spacer1 pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS17 HGNC ADAMTS18 170692 genome.wustl.edu 37 16 77325241 77325241 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 77325241 77325241 C T SNP ADAMTS18 ENST00000282849 human ensembl 70_37 -1 known silent c.3324 p.E1108 0.314 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ADAMTS2 9509 genome.wustl.edu 37 5 178540923 178540923 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 178540923 178540923 C A SNP ADAMTS2 ENST00000251582 human ensembl 70_37 -1 known missense c.3581 p.R1194I 0.983 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ADAMTS20 80070 genome.wustl.edu 37 12 43771257 43771257 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 43771257 43771257 C A SNP ADAMTS20 ENST00000389420 human ensembl 70_37 -1 known nonsense c.4906 p.E1636* 0.999 superfamily_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ADAMTS3 9508 genome.wustl.edu 37 4 73148890 73148890 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 73148890 73148890 T C SNP ADAMTS3 ENST00000286657 human ensembl 70_37 -1 known missense c.3581 p.N1194S 0.928 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS3 HGNC ADAMTS9 56999 genome.wustl.edu 37 3 64644459 64644459 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 64644459 64644459 T G SNP ADAMTS9 ENST00000498707 human ensembl 70_37 -1 known missense c.688 p.N230H 0.001 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ADAMTSL1 92949 genome.wustl.edu 37 9 18574115 18574115 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 18574115 18574115 C T SNP ADAMTSL1 ENST00000327883 human ensembl 70_37 +1 known missense c.325 p.L109F 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC ADAMTSL1 92949 genome.wustl.edu 37 9 18622252 18622252 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 18622252 18622252 C T SNP ADAMTSL1 ENST00000327883 human ensembl 70_37 +1 known silent c.486 p.C162 0.970 prints_Peptidase_M12B_ADAM-TS pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL1 HGNC ADAMTSL3 57188 genome.wustl.edu 37 15 84568399 84568399 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 84568399 84568399 A G SNP ADAMTSL3 ENST00000286744 human ensembl 70_37 +1 known missense c.1616 p.E539G 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ADAP2 55803 genome.wustl.edu 37 17 29250063 29250063 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 29250063 29250063 A T SNP ADAP2 ENST00000330889 human ensembl 70_37 +1 known missense c.200 p.D67V 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ADAP2 HGNC ADARB2 105 genome.wustl.edu 37 10 1246192 1246192 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 1246192 1246192 A G SNP ADARB2 ENST00000381310 human ensembl 70_37 -1 known silent c.105 p.D35 0.000 smart_A_deamin pfam_A_deamin,smart_A_deamin,pfscan_A_deamin - no_errors ADARB2 HGNC ADARB2 105 genome.wustl.edu 37 10 1262869 1262869 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 1262869 1262869 G A SNP ADARB2 ENST00000469464 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ADARB2 HGNC ADCY10 55811 genome.wustl.edu 37 1 167829121 167829121 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 167829121 167829121 G T SNP ADCY10 ENST00000367851 human ensembl 70_37 -1 known missense c.1820 p.S607Y 0.062 pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ADCY5 111 genome.wustl.edu 37 3 123051434 123051434 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 123051434 123051434 C T SNP ADCY5 ENST00000462833 human ensembl 70_37 -1 known missense c.1495 p.A499T 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 ADCY5 HGNC ADCY9 115 genome.wustl.edu 37 16 4015835 4015835 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 4015835 4015835 C T SNP ADCY9 ENST00000294016 human ensembl 70_37 -1 known missense c.4003 p.E1335K 0.947 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ADIPOQ 9370 genome.wustl.edu 37 3 186570919 186570919 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 186570919 186570919 G A SNP ADIPOQ ENST00000320741 human ensembl 70_37 +1 known silent c.72 p.G24 0.000 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors ADIPOQ HGNC ADNP 23394 genome.wustl.edu 37 20 49510335 49510335 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 49510335 49510335 G A SNP ADNP ENST00000349014 human ensembl 70_37 -1 known nonsense c.916 p.R306* 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP HGNC ADNP2 22850 genome.wustl.edu 37 18 77896353 77896353 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 77896353 77896353 A G SNP ADNP2 ENST00000262198 human ensembl 70_37 +1 known silent c.3057 p.R1019 0.998 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ADORA1 134 genome.wustl.edu 37 1 203134602 203134602 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 203134602 203134602 C A SNP ADORA1 ENST00000309502 human ensembl 70_37 +1 known missense c.555 p.F185L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Adenosn_rcpt,prints_GPCR_Rhodpsn,prints_Adeno_A1_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors ADORA1 HGNC AFF2 2334 genome.wustl.edu 37 X 147743667 147743667 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 147743667 147743667 C A SNP AFF2 ENST00000370460 human ensembl 70_37 +1 known missense c.419 p.S140Y 0.934 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC AFF3 3899 genome.wustl.edu 37 2 100185376 100185376 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 100185376 100185376 G A SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known missense c.2995 p.P999S 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC AFF3 3899 genome.wustl.edu 37 2 100209829 100209829 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 100209829 100209829 G T SNP AFF3 ENST00000356421 human ensembl 70_37 -1 known missense c.2369 p.S790Y 0.969 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC AGAP11 119385 genome.wustl.edu 37 10 88760446 88760446 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 88760446 88760446 A C SNP AGAP11 ENST00000444431 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors AGAP11 HGNC AGAP6 414189 genome.wustl.edu 37 10 51768631 51768631 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 51768631 51768631 G A SNP AGAP6 ENST00000374056 human ensembl 70_37 +1 known missense c.746 p.R249H 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC AGBL4 84871 genome.wustl.edu 37 1 49100248 49100248 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 49100248 49100248 G A SNP AGBL4 ENST00000371839 human ensembl 70_37 -1 known missense c.868 p.R290C 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,smart_Peptidase_M14 - no_errors AGBL4 HGNC AGPAT4 56895 genome.wustl.edu 37 6 161587300 161587300 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 161587300 161587300 C T SNP AGPAT4 ENST00000320285 human ensembl 70_37 -1 known missense c.328 p.E110K 0.733 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT4 HGNC AGRN 375790 genome.wustl.edu 37 1 979321 979321 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 979321 979321 C T SNP AGRN ENST00000379370 human ensembl 70_37 +1 known silent c.1917 p.Y639 0.300 pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_FacI_MAC,smart_Prot_inh_Kazal pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,pfam_EGF_laminin,pfam_SEA,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Prot_inh_Kazal,smart_EG-like_dom,smart_EGF_laminin,smart_SEA,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA - no_errors AGRN HGNC AGTR1 185 genome.wustl.edu 37 3 148458860 148458860 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 148458860 148458860 G T SNP AGTR1 ENST00000349243 human ensembl 70_37 +1 known missense c.38 p.R13I 1.000 prints_ATII_AT1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ATII_AT1_rcpt,prints_ATII_rcpt,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Frt_met_rcpt,prints_Brdyknn_rcpt,prints_P2_purnocptor - no_errors AGTR1 HGNC ETNPPL 64850 genome.wustl.edu 37 4 109667588 109667588 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 109667588 109667588 A G SNP AGXT2L1 ENST00000296486 human ensembl 70_37 -1 known missense c.1270 p.F424L 0.040 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors AGXT2L1 HGNC AHNAK 79026 genome.wustl.edu 37 11 62289755 62289755 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 62289755 62289755 T C SNP AHNAK ENST00000378024 human ensembl 70_37 -1 known missense c.12134 p.D4045G 0.649 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC AHNAK2 113146 genome.wustl.edu 37 14 105412935 105412935 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 105412935 105412935 C T SNP AHNAK2 ENST00000333244 human ensembl 70_37 -1 known silent c.8853 p.P2951 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC AHR 196 genome.wustl.edu 37 7 17379822 17379822 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 17379822 17379822 A G SNP AHR ENST00000242057 human ensembl 70_37 +1 known silent c.2373 p.V791 0.000 NULL 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 - no_errors AHR HGNC AHSA2 130872 genome.wustl.edu 37 2 61413945 61413945 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 61413945 61413945 A G SNP AHSA2 ENST00000489653 human ensembl 70_37 +1 known rna NULL NULL 0.974 - - - no_errors AHSA2 HGNC AIP 9049 genome.wustl.edu 37 11 67250681 67250681 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 67250681 67250681 A C SNP AIP ENST00000279146 human ensembl 70_37 +1 known missense c.52 p.I18L 1.000 NULL pfam_PPIase_FKBP_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom - no_errors AIP HGNC AKAP13 11214 genome.wustl.edu 37 15 86123367 86123367 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 86123367 86123367 T C SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known missense c.2068 p.S690P 0.001 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC AKAP3 10566 genome.wustl.edu 37 12 4736535 4736535 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 4736535 4736535 C A SNP AKAP3 ENST00000228850 human ensembl 70_37 -1 known missense c.1533 p.E511D 0.267 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC AKAP7 9465 genome.wustl.edu 37 6 131481239 131481239 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 131481239 131481239 A C SNP AKAP7 ENST00000368123 human ensembl 70_37 +1 known missense c.126 p.E42D 0.993 pfam_Kinase-A_anchor_nucl_local_sig pfam_Kinase-A_anchor_nucl_local_sig,pfam_Kinase-A_anchor_RI-RII-bd_dom,superfamily_RNA_ligase/cNuc_Pdiesterase - no_errors AKAP7 HGNC AK9 221264 genome.wustl.edu 37 6 109819063 109819063 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 109819063 109819063 G A SNP AKD1 ENST00000424296 human ensembl 70_37 -1 known nonsense c.5152 p.R1718* 0.000 NULL pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC AKNA 80709 genome.wustl.edu 37 9 117120224 117120224 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 117120224 117120224 G A SNP AKNA ENST00000307564 human ensembl 70_37 -1 known nonsense c.2716 p.R906* 0.004 NULL pfam_TF_AT-hook - no_errors AKNA HGNC AKNAD1 254268 genome.wustl.edu 37 1 109391560 109391560 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 109391560 109391560 C A SNP AKNAD1 ENST00000370001 human ensembl 70_37 -1 known nonsense c.1156 p.E386* 1.000 pfam_TF_AT-hook pfam_TF_AT-hook - no_errors AKNAD1 HGNC AKR1C4 1109 genome.wustl.edu 37 10 5242299 5242299 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 5242299 5242299 C A SNP AKR1C4 ENST00000263126 human ensembl 70_37 +1 known missense c.240 p.F80L 0.995 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C4 HGNC ALDH1A3 220 genome.wustl.edu 37 15 101447381 101447381 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 101447381 101447381 A C SNP ALDH1A3 ENST00000329841 human ensembl 70_37 +1 known missense c.1289 p.K430T 0.305 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A3 HGNC ALKBH1 8846 genome.wustl.edu 37 14 78140375 78140375 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 78140375 78140375 G T SNP ALKBH1 ENST00000216489 human ensembl 70_37 -1 known nonsense c.950 p.S317* 0.328 NULL tigrfam_Alkb - no_errors ALKBH1 HGNC ALMS1 7840 genome.wustl.edu 37 2 73680465 73680465 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 73680465 73680465 A C SNP ALMS1 ENST00000264448 human ensembl 70_37 +1 known missense c.6808 p.N2270H 1.000 NULL NULL - no_errors ALMS1 HGNC ALPK1 80216 genome.wustl.edu 37 4 113352584 113352584 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 113352584 113352584 G T SNP ALPK1 ENST00000177648 human ensembl 70_37 +1 known missense c.1881 p.E627D 0.014 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ALS2CL 259173 genome.wustl.edu 37 3 46716116 46716116 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 46716116 46716116 C A SNP ALS2CL ENST00000318962 human ensembl 70_37 -1 known missense c.2369 p.G790V 1.000 NULL pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ALS2CR11 151254 genome.wustl.edu 37 2 202356819 202356819 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 202356819 202356819 C A SNP ALS2CR11 ENST00000439140 human ensembl 70_37 -1 novel missense c.4245 p.K1415N 0.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors ALS2CR11 HGNC AMTN 401138 genome.wustl.edu 37 4 71394916 71394916 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 71394916 71394916 T C SNP AMTN ENST00000339336 human ensembl 70_37 +1 known missense c.346 p.S116P 1.000 NULL NULL - no_errors AMTN HGNC AMY2A 279 genome.wustl.edu 37 1 104160634 104160634 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 104160634 104160634 G T SNP AMY2A ENST00000414303 human ensembl 70_37 +1 known missense c.227 p.R76I 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,prints_Alpha_amylase pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2A HGNC ANK3 288 genome.wustl.edu 37 10 61832013 61832013 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 61832013 61832013 G T SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.8626 p.H2876N 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ANKFY1 51479 genome.wustl.edu 37 17 4072504 4072504 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 4072504 4072504 C T SNP ANKFY1 ENST00000570535 human ensembl 70_37 -1 known missense c.3491 p.R1164H 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ANKHD1 54882 genome.wustl.edu 37 5 139892498 139892498 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 139892498 139892498 T G SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known missense c.4190 p.I1397S 1.000 NULL pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt - no_errors ANKHD1 HGNC ANKRD13C 81573 genome.wustl.edu 37 1 70801747 70801747 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 70801747 70801747 T G SNP ANKRD13C ENST00000370944 human ensembl 70_37 -1 known missense c.466 p.N156H 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD13C HGNC ANKRD18B 441459 genome.wustl.edu 37 9 33550477 33550477 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 33550477 33550477 T G SNP ANKRD18B ENST00000290943 human ensembl 70_37 +1 known missense c.1931 p.F644C 0.053 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD18B HGNC ANKRD18CP 100287922 genome.wustl.edu 37 9 99942941 99942941 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 99942941 99942941 A C SNP ANKRD18CP ENST00000354752 human ensembl 70_37 -1 known rna NULL NULL 0.997 - - - no_errors ANKRD18CP HGNC ANKRD20A5P 440482 genome.wustl.edu 37 18 14225642 14225642 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 14225642 14225642 A C SNP ANKRD20A5P ENST00000577614 human ensembl 70_37 +1 known rna NULL NULL 0.180 - - - no_errors ANKRD20A5P HGNC ANKRD20A8P 729171 genome.wustl.edu 37 2 95488761 95488761 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 95488761 95488761 C A SNP ANKRD20A8P ENST00000432432 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors ANKRD20A8P HGNC ANKRD26 22852 genome.wustl.edu 37 10 27335392 27335392 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 27335392 27335392 C T SNP ANKRD26 ENST00000436985 human ensembl 70_37 -1 known silent c.1923 p.S641 0.000 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ANKRD30B 374860 genome.wustl.edu 37 18 14828278 14828278 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 14828278 14828278 G T SNP ANKRD30B ENST00000358984 human ensembl 70_37 +1 known missense c.2388 p.E796D 0.002 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30B HGNC ANKRD30BL 554226 genome.wustl.edu 37 2 132914714 132914714 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 132914714 132914714 C T SNP ANKRD30BL ENST00000295181 human ensembl 70_37 -1 known silent c.339 p.L113 0.998 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD30BL HGNC ANKRD31 256006 genome.wustl.edu 37 5 74442211 74442211 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 74442211 74442211 A G SNP ANKRD31 ENST00000274361 human ensembl 70_37 -1 known missense c.3025 p.S1009P 0.044 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD31 HGNC ANKRD34B 340120 genome.wustl.edu 37 5 79854475 79854475 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 79854475 79854475 T C SNP ANKRD34B ENST00000338682 human ensembl 70_37 -1 known missense c.1364 p.N455S 0.945 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34B HGNC ANKRD36BP2 645784 genome.wustl.edu 37 2 89103871 89103871 + RNA DEL T T - TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 89103871 89103871 T - DEL ANKRD36BP2 ENST00000393525 human ensembl 70_37 +1 known rna NULL NULL 0.032 - - - no_errors ANKRD36BP2 HGNC ANKRD36C 400986 genome.wustl.edu 37 2 96525724 96525724 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 96525724 96525724 G A SNP ANKRD36C ENST00000456556 human ensembl 70_37 -1 known nonsense c.3781 p.R1261* 0.998 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ANKRD36C 400986 genome.wustl.edu 37 2 96583646 96583646 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 96583646 96583646 C T SNP ANKRD36C ENST00000456556 human ensembl 70_37 -1 known silent c.2304 p.S768 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ANKRD36C 400986 genome.wustl.edu 37 2 96652917 96652917 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 96652917 96652917 C T SNP ANKRD36C ENST00000456556 human ensembl 70_37 -1 known missense c.235 p.E79K 0.466 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36C HGNC ANO1 55107 genome.wustl.edu 37 11 69962588 69962588 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 69962588 69962588 G A SNP ANO1 ENST00000355303 human ensembl 70_37 +1 known missense c.880 p.E294K 0.988 NULL pfam_Anoctamin - no_errors ANO1 HGNC ANO5 203859 genome.wustl.edu 37 11 22294416 22294416 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 22294416 22294416 C T SNP ANO5 ENST00000324559 human ensembl 70_37 +1 known nonsense c.2116 p.R706* 0.989 pfam_Anoctamin pfam_Anoctamin - no_errors ANO5 HGNC ANO8 57719 genome.wustl.edu 37 19 17441687 17441687 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 17441687 17441687 T C SNP ANO8 ENST00000159087 human ensembl 70_37 -1 known missense c.943 p.T315A 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO8 HGNC ANXA13 312 genome.wustl.edu 37 8 124707747 124707747 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 124707747 124707747 G A SNP ANXA13 ENST00000262219 human ensembl 70_37 -1 known silent c.589 p.L197 0.994 superfamily_Annexin pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII - no_errors ANXA13 HGNC AOC4 90586 genome.wustl.edu 37 17 41019795 41019795 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 41019795 41019795 G A SNP AOC4 ENST00000562301 human ensembl 70_37 +1 known rna NULL NULL 0.427 - - - no_errors AOC4 Clone_based_vega_gene AOX1 316 genome.wustl.edu 37 2 201485959 201485959 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 201485959 201485959 C T SNP AOX1 ENST00000374700 human ensembl 70_37 +1 known missense c.1991 p.A664V 0.240 pfam_Ald_Oxase/Xan_DH_a/b,superfamily_Ald_Oxase/Xan_DH_a/b,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC AP1M1 8907 genome.wustl.edu 37 19 16314297 16314297 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 16314297 16314297 G A SNP AP1M1 ENST00000444449 human ensembl 70_37 +1 known missense c.70 p.D24N 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu,prints_Clathrin_mu pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M1 HGNC AP1M1 8907 genome.wustl.edu 37 19 16337342 16337342 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 16337342 16337342 C A SNP AP1M1 ENST00000444449 human ensembl 70_37 +1 known silent c.693 p.L231 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu - no_errors AP1M1 HGNC AP2B1 163 genome.wustl.edu 37 17 33968959 33968959 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 33968959 33968959 G A SNP AP2B1 ENST00000312678 human ensembl 70_37 +1 known missense c.1501 p.E501K 1.000 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,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP2B1 HGNC APBB1 322 genome.wustl.edu 37 11 6422892 6422892 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 6422892 6422892 T G SNP APBB1 ENST00000389906 human ensembl 70_37 -1 known missense c.1415 p.K472T 1.000 pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom pfam_PTyr_interaction_dom,pfam_WW_Rsp5_WWP,pfam_PTB,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_WW_Rsp5_WWP - no_errors APBB1 HGNC APC 324 genome.wustl.edu 37 5 112177389 112177389 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 112177389 112177389 A G SNP APC ENST00000257430 human ensembl 70_37 +1 known missense c.6098 p.D2033G 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC APC2 10297 genome.wustl.edu 37 19 1462028 1462028 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 1462028 1462028 G A SNP APC2 ENST00000233607 human ensembl 70_37 +1 known missense c.1705 p.A569T 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC APH1B 83464 genome.wustl.edu 37 15 63597826 63597826 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 63597826 63597826 C A SNP APH1B ENST00000261879 human ensembl 70_37 +1 known missense c.620 p.S207Y 0.983 pfam_Aph-1 pfam_Aph-1 - no_errors APH1B HGNC APLP1 333 genome.wustl.edu 37 19 36365650 36365650 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 36365650 36365650 G A SNP APLP1 ENST00000221891 human ensembl 70_37 +1 known missense c.1223 p.R408H 0.992 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 APLP2 334 genome.wustl.edu 37 11 129980540 129980540 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 129980540 129980540 A C SNP APLP2 ENST00000263574 human ensembl 70_37 +1 known silent c.387 p.T129 0.910 pfam_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_heparin-bd,smart_Amyloid_glyco_extra pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APLP2 HGNC APOB 338 genome.wustl.edu 37 2 21232739 21232739 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 21232739 21232739 A C SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.7001 p.I2334S 0.875 superfamily_ARM-type_fold pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC APOB 338 genome.wustl.edu 37 2 21233079 21233079 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 21233079 21233079 T G SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.6661 p.N2221H 0.000 superfamily_ARM-type_fold pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC APOBEC3D 140564 genome.wustl.edu 37 22 39421629 39421629 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 39421629 39421629 C T SNP APOBEC3D ENST00000216099 human ensembl 70_37 +1 known silent c.558 p.F186 0.000 pfam_APOBEC_C,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3D HGNC AQP10 89872 genome.wustl.edu 37 1 154296309 154296309 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 154296309 154296309 G A SNP AQP10 ENST00000484864 human ensembl 70_37 +1 known missense c.734 p.G245D 0.000 NULL pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_10,prints_Aquaporin_3 - no_errors AQP10 HGNC AQP2 359 genome.wustl.edu 37 12 50348075 50348075 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 50348075 50348075 C A SNP AQP2 ENST00000199280 human ensembl 70_37 +1 known missense c.498 p.F166L 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors AQP2 HGNC AQPEP 206338 genome.wustl.edu 37 5 115350168 115350168 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 115350168 115350168 C T SNP AQPEP ENST00000357872 human ensembl 70_37 +1 known silent c.2394 p.D798 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_genename AQR 9716 genome.wustl.edu 37 15 35176741 35176741 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 35176741 35176741 G T SNP AQR ENST00000156471 human ensembl 70_37 -1 known silent c.3012 p.I1004 1.000 NULL NULL - no_errors AQR HGNC ARAP1 116985 genome.wustl.edu 37 11 72408650 72408650 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 72408650 72408650 G A SNP ARAP1 ENST00000393609 human ensembl 70_37 -1 known nonsense c.2782 p.R928* 1.000 smart_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ARAP2 116984 genome.wustl.edu 37 4 36212106 36212106 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 36212106 36212106 C T SNP ARAP2 ENST00000303965 human ensembl 70_37 -1 known missense c.1393 p.V465I 0.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ARCN1 372 genome.wustl.edu 37 11 118473592 118473592 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 118473592 118473592 T G SNP ARCN1 ENST00000533452 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ARCN1 HGNC ARHGAP11A 9824 genome.wustl.edu 37 15 32929146 32929146 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 32929146 32929146 G T SNP ARHGAP11A ENST00000361627 human ensembl 70_37 +1 known missense c.2172 p.K724N 0.003 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP11A HGNC ARHGAP20 57569 genome.wustl.edu 37 11 110451001 110451001 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 110451001 110451001 G T SNP ARHGAP20 ENST00000260283 human ensembl 70_37 -1 known missense c.2669 p.S890Y 1.000 NULL pfam_RhoGAP_dom,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Ras-assoc,pfscan_RhoGAP_dom - no_errors ARHGAP20 HGNC ARHGAP25 9938 genome.wustl.edu 37 2 69040466 69040466 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 69040466 69040466 G A SNP ARHGAP25 ENST00000409202 human ensembl 70_37 +1 known missense c.722 p.R241Q 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP25 HGNC ARHGAP31 57514 genome.wustl.edu 37 3 119120696 119120696 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 119120696 119120696 G A SNP ARHGAP31 ENST00000264245 human ensembl 70_37 +1 known missense c.1097 p.R366Q 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ARHGAP32 9743 genome.wustl.edu 37 11 128936741 128936741 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 128936741 128936741 C A SNP ARHGAP32 ENST00000310343 human ensembl 70_37 -1 known missense c.512 p.R171I 1.000 pfam_Phox,superfamily_Phox pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP32 HGNC ARHGAP6 395 genome.wustl.edu 37 X 11204524 11204524 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 11204524 11204524 C T SNP ARHGAP6 ENST00000337414 human ensembl 70_37 -1 known missense c.1105 p.D369N 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ARHGEF12 23365 genome.wustl.edu 37 11 120327884 120327884 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 120327884 120327884 G A SNP ARHGEF12 ENST00000356641 human ensembl 70_37 +1 known missense c.2057 p.R686H 0.997 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ARHGEF28 64283 genome.wustl.edu 37 5 73183492 73183492 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 73183492 73183492 C A SNP ARHGEF28 ENST00000545377 human ensembl 70_37 +1 known silent c.3375 p.I1125 0.998 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF28 HGNC ARHGEF33 100271715 genome.wustl.edu 37 2 39156914 39156914 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 39156914 39156914 A C SNP ARHGEF33 ENST00000398800 human ensembl 70_37 +1 known missense c.305 p.Q102P 1.000 superfamily_Prefoldin pfam_DH-domain,superfamily_DH-domain,superfamily_Prefoldin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF33 HGNC ARID1A 8289 genome.wustl.edu 37 1 27106354 27106354 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 27106354 27106354 C T SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known nonsense c.5965 p.R1989* 1.000 pfam_DUF3518 pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ARID1A 8289 genome.wustl.edu 37 1 27106364 27106364 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 27106364 27106364 C A SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known nonsense c.5975 p.S1992* 1.000 pfam_DUF3518 pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ARID1B 57492 genome.wustl.edu 37 6 157519969 157519969 + Nonsense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 157519969 157519969 T G SNP ARID1B ENST00000367148 human ensembl 70_37 +1 known nonsense c.4158 p.Y1386* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ARID4A 5926 genome.wustl.edu 37 14 58817869 58817869 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 58817869 58817869 G T SNP ARID4A ENST00000355431 human ensembl 70_37 +1 known missense c.1483 p.D495Y 0.999 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ARID5B 84159 genome.wustl.edu 37 10 63845627 63845627 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 63845627 63845627 G T SNP ARID5B ENST00000279873 human ensembl 70_37 +1 known nonsense c.1366 p.E456* 1.000 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5B HGNC ARL5B 221079 genome.wustl.edu 37 10 18961608 18961608 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 18961608 18961608 G T SNP ARL5B ENST00000377275 human ensembl 70_37 +1 known nonsense c.313 p.E105* 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL5B HGNC ARMC4 55130 genome.wustl.edu 37 10 28283975 28283975 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 28283975 28283975 C A SNP ARMC4 ENST00000305242 human ensembl 70_37 -1 known nonsense c.97 p.E33* 0.967 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP/TIF31_domain,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ARMC5 79798 genome.wustl.edu 37 16 31474058 31474058 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 31474058 31474058 T G SNP ARMC5 ENST00000408912 human ensembl 70_37 +1 known missense c.1475 p.F492C 1.000 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,superfamily_BTB/POZ_fold,smart_Armadillo,pfscan_Armadillo,pfscan_BTB/POZ-like - no_errors ARMC5 HGNC ARMC8 25852 genome.wustl.edu 37 3 137960643 137960643 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 137960643 137960643 C T SNP ARMC8 ENST00000469044 human ensembl 70_37 +1 known nonsense c.856 p.R286* 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC8 HGNC ARMCX2 9823 genome.wustl.edu 37 X 100911003 100911003 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 100911003 100911003 G T SNP ARMCX2 ENST00000328766 human ensembl 70_37 -1 known silent c.1572 p.I524 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ARMCX2 9823 genome.wustl.edu 37 X 100912263 100912263 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 100912263 100912263 G A SNP ARMCX2 ENST00000328766 human ensembl 70_37 -1 known silent c.312 p.S104 0.002 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ARMCX4 100131755 genome.wustl.edu 37 X 100743067 100743067 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 100743067 100743067 A G SNP ARMCX4 ENST00000433011 human ensembl 70_37 +1 known silent c.147 p.E49 0.015 NULL NULL - no_errors ARMCX4 HGNC ARPP21 10777 genome.wustl.edu 37 3 35785388 35785388 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 35785388 35785388 C T SNP ARPP21 ENST00000417925 human ensembl 70_37 +1 known missense c.1966 p.R656W 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ARRB1 408 genome.wustl.edu 37 11 74977311 74977311 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 74977311 74977311 C T SNP ARRB1 ENST00000393505 human ensembl 70_37 -1 known missense c.1153 p.D385N 1.000 superfamily_Ig_E-set,prints_Arrestin pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors ARRB1 HGNC ART5 116969 genome.wustl.edu 37 11 3661163 3661163 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 3661163 3661163 G A SNP ART5 ENST00000359918 human ensembl 70_37 -1 known missense c.496 p.R166C 0.887 pfam_ART pfam_ART,prints_ART - no_errors ART5 HGNC ASAP3 55616 genome.wustl.edu 37 1 23765253 23765253 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 23765253 23765253 G A SNP ASAP3 ENST00000336689 human ensembl 70_37 -1 known silent c.1089 p.F363 0.995 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP3 HGNC ASB16 92591 genome.wustl.edu 37 17 42248408 42248408 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 42248408 42248408 A G SNP ASB16 ENST00000293414 human ensembl 70_37 +1 known missense c.251 p.N84S 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB16 HGNC ASCC3 10973 genome.wustl.edu 37 6 101248365 101248365 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 101248365 101248365 A T SNP ASCC3 ENST00000369162 human ensembl 70_37 -1 known missense c.938 p.I313N 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ASH1L 55870 genome.wustl.edu 37 1 155330125 155330125 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 155330125 155330125 A C SNP ASH1L ENST00000368346 human ensembl 70_37 -1 known missense c.6777 p.D2259E 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ASH1L 55870 genome.wustl.edu 37 1 155408777 155408777 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 155408777 155408777 T G SNP ASH1L ENST00000368346 human ensembl 70_37 -1 known missense c.5169 p.Q1723H 0.896 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ASH1L 55870 genome.wustl.edu 37 1 155491127 155491127 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 155491127 155491127 T C SNP ASH1L ENST00000368346 human ensembl 70_37 -1 known missense c.184 p.K62E 0.992 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ASPH 444 genome.wustl.edu 37 8 62546284 62546284 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 62546284 62546284 C A SNP ASPH ENST00000379454 human ensembl 70_37 -1 known missense c.892 p.V298L 0.036 pfam_Asp-B-hydro/Triadin_dom pfam_Asp-B-hydro/Triadin_dom,pfam_Asp_Arg_b-Hydrxlase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ASPH HGNC ASPHD2 57168 genome.wustl.edu 37 22 26829794 26829794 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 26829794 26829794 C T SNP ASPHD2 ENST00000215906 human ensembl 70_37 +1 known silent c.213 p.F71 0.982 NULL pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD2 HGNC ASXL2 55252 genome.wustl.edu 37 2 25965734 25965734 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 25965734 25965734 C T SNP ASXL2 ENST00000435504 human ensembl 70_37 -1 known missense c.3472 p.A1158T 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL2 HGNC ATM 472 genome.wustl.edu 37 11 108129735 108129735 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 108129735 108129735 C T SNP ATM ENST00000278616 human ensembl 70_37 +1 known missense c.2399 p.S800F 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ATP10A 57194 genome.wustl.edu 37 15 25924953 25924953 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 25924953 25924953 C A SNP ATP10A ENST00000356865 human ensembl 70_37 -1 known missense c.4035 p.K1345N 0.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10A HGNC ATP11A 23250 genome.wustl.edu 37 13 113536242 113536242 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 113536242 113536242 C T SNP ATP11A ENST00000375630 human ensembl 70_37 +1 known missense c.3440 p.S1147F 0.007 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11A HGNC ATP11B 23200 genome.wustl.edu 37 3 182575668 182575668 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 182575668 182575668 C A SNP ATP11B ENST00000323116 human ensembl 70_37 +1 known nonsense c.854 p.S285* 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11B HGNC ATP12A 479 genome.wustl.edu 37 13 25283926 25283926 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 25283926 25283926 A G SNP ATP12A ENST00000218548 human ensembl 70_37 +1 known missense c.2741 p.D914G 0.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_cation-ex_asu_euk 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,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP12A HGNC ATP13A4 84239 genome.wustl.edu 37 3 193171950 193171950 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 193171950 193171950 C T SNP ATP13A4 ENST00000342695 human ensembl 70_37 -1 known missense c.1967 p.R656Q 1.000 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A4 HGNC ATP13A5 344905 genome.wustl.edu 37 3 193081925 193081925 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 193081925 193081925 C A SNP ATP13A5 ENST00000342358 human ensembl 70_37 -1 known nonsense c.208 p.E70* 1.000 tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A5 HGNC ATP2B1 490 genome.wustl.edu 37 12 90005126 90005126 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 90005126 90005126 A C SNP ATP2B1 ENST00000261173 human ensembl 70_37 -1 known missense c.2091 p.C697W 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B1 HGNC ATP2B2 491 genome.wustl.edu 37 3 10443974 10443974 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 10443974 10443974 G A SNP ATP2B2 ENST00000352432 human ensembl 70_37 -1 known silent c.456 p.I152 0.998 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B2 HGNC ATP5G3 518 genome.wustl.edu 37 2 176043891 176043891 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 176043891 176043891 C A SNP ATP5G3 ENST00000284727 human ensembl 70_37 -1 known missense c.208 p.D70Y 1.000 superfamily_ATPase_F0/V0-cplx_csu pfam_ATPase_F0/V0-cplx_csu,superfamily_ATPase_F0/V0-cplx_csu,prints_ATPase_F0-cplx_csu - no_errors ATP5G3 HGNC ATP5H 10476 genome.wustl.edu 37 17 73035359 73035359 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 73035359 73035359 G T SNP ATP5H ENST00000301587 human ensembl 70_37 -1 known missense c.299 p.S100Y 0.001 pfam_ATPase_F0-cplx_dsu_mt,pirsf_ATPase_F0-cplx_dsu_mt pfam_ATPase_F0-cplx_dsu_mt,pirsf_ATPase_F0-cplx_dsu_mt - no_errors ATP5H HGNC ATP6AP2 10159 genome.wustl.edu 37 X 40464971 40464971 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 40464971 40464971 T G SNP ATP6AP2 ENST00000378438 human ensembl 70_37 +1 known missense c.1017 p.I339M 1.000 pfam_Renin_rcpt pfam_Renin_rcpt - no_errors ATP6AP2 HGNC ATP6V1B1 525 genome.wustl.edu 37 2 71187139 71187139 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 71187139 71187139 C T SNP ATP6V1B1 ENST00000234396 human ensembl 70_37 +1 known silent c.516 p.D172 0.726 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_a/bsu_N,superfamily_ATPase_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B1 HGNC ATP6V1B2 526 genome.wustl.edu 37 8 20070411 20070411 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 20070411 20070411 C T SNP ATP6V1B2 ENST00000276390 human ensembl 70_37 +1 known nonsense c.922 p.R308* 0.998 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_V1-cplx_bsu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,tigrfam_ATPase_V1-cplx_bsu - no_errors ATP6V1B2 HGNC ATP6V1C2 245973 genome.wustl.edu 37 2 10914999 10914999 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 10914999 10914999 G T SNP ATP6V1C2 ENST00000272238 human ensembl 70_37 +1 known nonsense c.724 p.E242* 1.000 pfam_ATPase_V1-cplx_csu pfam_ATPase_V1-cplx_csu - no_errors ATP6V1C2 HGNC ATP8B1 5205 genome.wustl.edu 37 18 55362544 55362544 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 55362544 55362544 C A SNP ATP8B1 ENST00000283684 human ensembl 70_37 -1 known nonsense c.799 p.E267* 1.000 pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B1 HGNC ATP8B2 57198 genome.wustl.edu 37 1 154319136 154319136 + Missense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 154319136 154319136 T A SNP ATP8B2 ENST00000368489 human ensembl 70_37 +1 known missense c.3164 p.F1055Y 1.000 tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP8B2 HGNC ATRNL1 26033 genome.wustl.edu 37 10 117228760 117228760 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 117228760 117228760 A C SNP ATRNL1 ENST00000355044 human ensembl 70_37 +1 known missense c.3575 p.E1192A 1.000 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB,smart_Plexin-like,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ATXN3L 92552 genome.wustl.edu 37 X 13337013 13337013 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 13337013 13337013 C A SNP ATXN3L ENST00000380622 human ensembl 70_37 -1 known missense c.1041 p.K347N 0.005 NULL pfam_Josephin,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Josephin,pfscan_Ubiquitin-int_motif,prints_Josephin - no_errors ATXN3L HGNC AUP1 550 genome.wustl.edu 37 2 74755126 74755126 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 74755126 74755126 G A SNP AUP1 ENST00000377526 human ensembl 70_37 -1 known missense c.679 p.R227C 0.764 NULL pfam_CUE,smart_CUE,pfscan_CUE - no_errors AUP1 HGNC AXL 558 genome.wustl.edu 37 19 41745213 41745213 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 41745213 41745213 C T SNP AXL ENST00000301178 human ensembl 70_37 +1 known missense c.1279 p.R427C 0.936 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC AXL 558 genome.wustl.edu 37 19 41765754 41765754 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 41765754 41765754 C A SNP AXL ENST00000301178 human ensembl 70_37 +1 known missense c.2630 p.A877D 0.001 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors AXL HGNC AZI2 64343 genome.wustl.edu 37 3 28378263 28378263 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 28378263 28378263 C T SNP AZI2 ENST00000479665 human ensembl 70_37 -1 known missense c.553 p.D185N 0.001 NULL NULL - no_errors AZI2 HGNC B3GALNT2 148789 genome.wustl.edu 37 1 235613545 235613545 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 235613545 235613545 A C SNP B3GALNT2 ENST00000366600 human ensembl 70_37 -1 known missense c.1479 p.D493E 0.953 NULL pfam_Glyco_trans_31 - no_errors B3GALNT2 HGNC B3GALTL 145173 genome.wustl.edu 37 13 31850910 31850910 + Splice_Site SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 31850910 31850910 T C SNP B3GALTL ENST00000343307 human ensembl 70_37 +1 known splice_site c.850+2 e10+2 1.000 - - - no_errors B3GALTL HGNC B3GNT3 10331 genome.wustl.edu 37 19 17919003 17919003 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 17919003 17919003 G A SNP B3GNT3 ENST00000318683 human ensembl 70_37 +1 known silent c.387 p.T129 0.870 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GNT3 HGNC B4GALNT3 283358 genome.wustl.edu 37 12 667745 667745 + Silent SNP G G C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 667745 667745 G C SNP B4GALNT3 ENST00000266383 human ensembl 70_37 +1 known silent c.2679 p.R893 1.000 pfam_Chond_GalNAc pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC B4GALT6 9331 genome.wustl.edu 37 18 29218714 29218714 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 29218714 29218714 G T SNP B4GALT6 ENST00000306851 human ensembl 70_37 -1 known missense c.481 p.L161I 1.000 pfam_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT6 HGNC BAI2 576 genome.wustl.edu 37 1 32207497 32207497 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 32207497 32207497 G A SNP BAI2 ENST00000373658 human ensembl 70_37 -1 known missense c.1489 p.R497C 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC BAI3 577 genome.wustl.edu 37 6 69348868 69348868 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 69348868 69348868 C A SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known missense c.301 p.L101I 1.000 pfscan_CUB pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC BANK1 55024 genome.wustl.edu 37 4 102839164 102839164 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 102839164 102839164 G T SNP BANK1 ENST00000322953 human ensembl 70_37 +1 known nonsense c.1024 p.E342* 0.964 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors BANK1 HGNC BAZ2A 11176 genome.wustl.edu 37 12 57005692 57005692 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 57005692 57005692 T C SNP BAZ2A ENST00000551812 human ensembl 70_37 -1 known missense c.1480 p.K494E 0.022 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,smart_Methyl_CpG_DNA-bd,smart_AT_hook_DNA-bd_motif,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2A HGNC BAZ2B 29994 genome.wustl.edu 37 2 160206467 160206467 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 160206467 160206467 A C SNP BAZ2B ENST00000392783 human ensembl 70_37 -1 known missense c.4615 p.F1539V 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC BBS10 79738 genome.wustl.edu 37 12 76740306 76740306 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 76740306 76740306 A C SNP BBS10 ENST00000393262 human ensembl 70_37 -1 known missense c.1459 p.L487V 0.044 superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS10 HGNC BBS10 79738 genome.wustl.edu 37 12 76740961 76740961 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 76740961 76740961 A C SNP BBS10 ENST00000393262 human ensembl 70_37 -1 known missense c.804 p.F268L 0.165 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS10 HGNC BBS12 166379 genome.wustl.edu 37 4 123664704 123664704 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 123664704 123664704 C A SNP BBS12 ENST00000314218 human ensembl 70_37 +1 known missense c.1657 p.L553I 0.041 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1 - no_errors BBS12 HGNC BCHE 590 genome.wustl.edu 37 3 165548614 165548614 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 165548614 165548614 G A SNP BCHE ENST00000264381 human ensembl 70_37 -1 known nonsense c.208 p.R70* 0.995 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC BCOR 54880 genome.wustl.edu 37 X 39913549 39913549 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 39913549 39913549 G A SNP BCOR ENST00000378444 human ensembl 70_37 -1 known silent c.4779 p.D1593 0.996 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC BEGAIN 57596 genome.wustl.edu 37 14 101010247 101010247 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 101010247 101010247 T G SNP BEGAIN ENST00000355173 human ensembl 70_37 -1 known missense c.299 p.N100T 1.000 NULL superfamily_Prefoldin - no_errors BEGAIN HGNC BEST2 54831 genome.wustl.edu 37 19 12865773 12865773 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 12865773 12865773 C A SNP BEST2 ENST00000042931 human ensembl 70_37 +1 known missense c.564 p.F188L 0.987 pfam_Bestrophin/UPF0187 pfam_Bestrophin/UPF0187 - no_errors BEST2 HGNC BIRC2 329 genome.wustl.edu 37 11 102220627 102220627 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 102220627 102220627 G A SNP BIRC2 ENST00000227758 human ensembl 70_37 +1 known silent c.42 p.S14 0.000 NULL 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 BIRC6 57448 genome.wustl.edu 37 2 32694554 32694554 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 32694554 32694554 G T SNP BIRC6 ENST00000421745 human ensembl 70_37 +1 known missense c.6219 p.K2073N 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC BLNK 29760 genome.wustl.edu 37 10 97956751 97956751 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 97956751 97956751 G T SNP BLNK ENST00000224337 human ensembl 70_37 -1 known missense c.1164 p.F388L 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,smart_SH2,pfscan_SH2 - no_errors BLNK HGNC BMP5 653 genome.wustl.edu 37 6 55739287 55739287 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 55739287 55739287 C T SNP BMP5 ENST00000370830 human ensembl 70_37 -1 known missense c.377 p.R126H 0.078 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors BMP5 HGNC BMPR2 659 genome.wustl.edu 37 2 203395585 203395585 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 203395585 203395585 A G SNP BMPR2 ENST00000374580 human ensembl 70_37 +1 known missense c.1036 p.T346A 0.998 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMPR2 HGNC BNC2 54796 genome.wustl.edu 37 9 16552656 16552656 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 16552656 16552656 C T SNP BNC2 ENST00000380672 human ensembl 70_37 -1 known missense c.541 p.A181T 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC2 HGNC BPTF 2186 genome.wustl.edu 37 17 65907913 65907913 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 65907913 65907913 G T SNP BPTF ENST00000321892 human ensembl 70_37 +1 known missense c.4291 p.D1431Y 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC BRCA2 675 genome.wustl.edu 37 13 32912309 32912309 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 32912309 32912309 T C SNP BRCA2 ENST00000380152 human ensembl 70_37 +1 known missense c.3817 p.F1273L 0.022 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC BRD3 8019 genome.wustl.edu 37 9 136916715 136916715 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 136916715 136916715 A G SNP BRD3 ENST00000303407 human ensembl 70_37 -1 known silent c.468 p.G156 0.999 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD3 HGNC BRD7 29117 genome.wustl.edu 37 16 50353864 50353864 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 50353864 50353864 G A SNP BRD7 ENST00000394689 human ensembl 70_37 -1 known nonsense c.1837 p.R613* 1.000 NULL pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD7 HGNC BRF1 2972 genome.wustl.edu 37 14 105693049 105693049 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 105693049 105693049 C A SNP BRF1 ENST00000546474 human ensembl 70_37 -1 known missense c.837 p.E279D 1.000 superfamily_Cyclin-like pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC BRIP1 83990 genome.wustl.edu 37 17 59934417 59934417 + Splice_Site SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 59934417 59934417 A C SNP BRIP1 ENST00000259008 human ensembl 70_37 -1 known splice_site c.379+2 e3+2 1.000 - - - no_errors BRIP1 HGNC BRSK2 9024 genome.wustl.edu 37 11 1459617 1459617 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 1459617 1459617 T G SNP BRSK2 ENST00000382179 human ensembl 70_37 +1 known missense c.406 p.Y136D 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BRSK2 HGNC BRWD3 254065 genome.wustl.edu 37 X 79991582 79991582 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 79991582 79991582 A G SNP BRWD3 ENST00000373275 human ensembl 70_37 -1 known silent c.819 p.C273 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 BSN 8927 genome.wustl.edu 37 3 49694005 49694005 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 49694005 49694005 A G SNP BSN ENST00000296452 human ensembl 70_37 +1 known missense c.7016 p.D2339G 0.610 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC BSND 7809 genome.wustl.edu 37 1 55465030 55465030 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 55465030 55465030 C A SNP BSND ENST00000371265 human ensembl 70_37 +1 known nonsense c.171 p.Y57* 1.000 NULL NULL - no_errors BSND HGNC BTBD18 643376 genome.wustl.edu 37 11 57511717 57511717 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 57511717 57511717 C A SNP BTBD18 ENST00000422652 human ensembl 70_37 -1 known missense c.2028 p.E676D 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD18 HGNC BTD 686 genome.wustl.edu 37 3 15672995 15672995 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 15672995 15672995 T G SNP BTD ENST00000437172 human ensembl 70_37 +1 putative missense c.43 p.L15V 0.137 NULL pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors BTD HGNC BTD 686 genome.wustl.edu 37 3 15686343 15686343 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 15686343 15686343 A C SNP BTD ENST00000303498 human ensembl 70_37 +1 known missense c.980 p.N327T 0.000 superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors BTD HGNC BTG4 54766 genome.wustl.edu 37 11 111367925 111367925 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 111367925 111367925 A G SNP BTG4 ENST00000525791 human ensembl 70_37 -1 putative missense c.521 p.V174A 0.001 NULL pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors BTG4 HGNC C10orf2 56652 genome.wustl.edu 37 10 102748733 102748733 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 102748733 102748733 C T SNP C10orf2 ENST00000311916 human ensembl 70_37 +1 known nonsense c.766 p.R256* 0.407 NULL pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C - no_errors C10orf2 HGNC C10orf71 118461 genome.wustl.edu 37 10 50531905 50531905 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 50531905 50531905 C T SNP C10orf71 ENST00000374144 human ensembl 70_37 +1 known missense c.1315 p.P439S 0.903 NULL NULL - no_errors C10orf71 HGNC C11orf35 256329 genome.wustl.edu 37 11 556271 556271 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 556271 556271 T G SNP C11orf35 ENST00000329451 human ensembl 70_37 -1 known missense c.1178 p.K393T 0.976 pfam_Lamin_tail_dom pfam_Lamin_tail_dom - no_errors C11orf35 HGNC MYRF 745 genome.wustl.edu 37 11 61546342 61546342 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 61546342 61546342 G A SNP C11orf9 ENST00000327797 human ensembl 70_37 +1 known missense c.958 p.A320T 0.000 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors C11orf9 HGNC C11orf93 120376 genome.wustl.edu 37 11 111179048 111179048 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 111179048 111179048 C T SNP C11orf93 ENST00000398035 human ensembl 70_37 +1 known silent c.351 p.L117 0.003 NULL NULL - no_errors C11orf93 HGNC C12orf36 283422 genome.wustl.edu 37 12 13526193 13526193 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 13526193 13526193 T G SNP C12orf36 ENST00000318426 human ensembl 70_37 -1 known missense c.362 p.K121T 0.003 NULL NULL - no_errors C12orf36 HGNC C12orf39 80763 genome.wustl.edu 37 12 21684079 21684079 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 21684079 21684079 A C SNP C12orf39 ENST00000256969 human ensembl 70_37 +1 known missense c.301 p.K101Q 0.837 NULL NULL - no_errors C12orf39 HGNC C12orf4 57102 genome.wustl.edu 37 12 4627253 4627253 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 4627253 4627253 C T SNP C12orf4 ENST00000261250 human ensembl 70_37 -1 known missense c.1004 p.R335Q 1.000 pfam_DUF2362 pfam_DUF2362 - no_errors C12orf4 HGNC C12orf45 121053 genome.wustl.edu 37 12 105382013 105382013 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 105382013 105382013 C T SNP C12orf45 ENST00000552951 human ensembl 70_37 +1 known missense c.184 p.R62W 0.996 NULL NULL - no_errors C12orf45 HGNC C12orf55 144535 genome.wustl.edu 37 12 97102431 97102431 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 97102431 97102431 A G SNP C12orf55 ENST00000342887 human ensembl 70_37 +1 known missense c.1849 p.T617A 0.003 NULL NULL - no_errors C12orf55 HGNC C12orf55 144535 genome.wustl.edu 37 12 97112265 97112265 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 97112265 97112265 A C SNP C12orf55 ENST00000342887 human ensembl 70_37 +1 known missense c.2044 p.K682Q 0.003 NULL NULL - no_errors C12orf55 HGNC C12orf55 144535 genome.wustl.edu 37 12 97180567 97180567 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 97180567 97180567 T G SNP C12orf55 ENST00000524981 human ensembl 70_37 +1 novel missense c.8570 p.F2857C 0.198 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC C12orf66 144577 genome.wustl.edu 37 12 64609553 64609553 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 64609553 64609553 G T SNP C12orf66 ENST00000398055 human ensembl 70_37 -1 known missense c.426 p.F142L 1.000 pfam_DUF2003 pfam_DUF2003 - no_errors C12orf66 HGNC C14orf37 145407 genome.wustl.edu 37 14 58605625 58605625 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 58605625 58605625 G A SNP C14orf37 ENST00000267485 human ensembl 70_37 -1 known missense c.452 p.A151V 0.000 NULL NULL - no_errors C14orf37 HGNC C15orf52 388115 genome.wustl.edu 37 15 40633048 40633048 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 40633048 40633048 A G SNP C15orf52 ENST00000559313 human ensembl 70_37 -1 known silent c.105 p.S35 1.000 NULL NULL - no_errors C15orf52 HGNC C15orf52 388115 genome.wustl.edu 37 15 40633088 40633088 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 40633088 40633088 G A SNP C15orf52 ENST00000559313 human ensembl 70_37 -1 known missense c.65 p.A22V 0.927 NULL NULL - no_errors C15orf52 HGNC C17orf99 100141515 genome.wustl.edu 37 17 76160781 76160781 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 76160781 76160781 C A SNP C17orf99 ENST00000451352 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors C17orf99 HGNC C19orf57 79173 genome.wustl.edu 37 19 14000075 14000075 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 14000075 14000075 C T SNP C19orf57 ENST00000454313 human ensembl 70_37 -1 known missense c.1594 p.E532K 0.623 NULL NULL - no_errors C19orf57 HGNC C1GALT1C1 29071 genome.wustl.edu 37 X 119760958 119760958 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 119760958 119760958 T C SNP C1GALT1C1 ENST00000304661 human ensembl 70_37 -1 known missense c.64 p.I22V 1.000 NULL NULL - no_errors C1GALT1C1 HGNC C1QTNF1 114897 genome.wustl.edu 37 17 77040139 77040139 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 77040139 77040139 T C SNP C1QTNF1 ENST00000354124 human ensembl 70_37 +1 known missense c.119 p.V40A 0.000 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF1 HGNC C1QTNF5 114902 genome.wustl.edu 37 11 119209810 119209810 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 119209810 119209810 G T SNP C1QTNF5 ENST00000525657 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1QTNF5 HGNC C1QTNF9-AS1 100874232 genome.wustl.edu 37 13 24890012 24890012 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 24890012 24890012 T C SNP C1QTNF9-AS1 ENST00000449656 human ensembl 70_37 -1 putative rna NULL NULL 0.003 - - - no_errors C1QTNF9-AS1 HGNC C1orf101 257044 genome.wustl.edu 37 1 244643083 244643083 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 244643083 244643083 T G SNP C1orf101 ENST00000366534 human ensembl 70_37 +1 known missense c.323 p.V108G 0.001 NULL NULL - no_errors C1orf101 HGNC C1orf101 257044 genome.wustl.edu 37 1 244736009 244736009 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 244736009 244736009 A C SNP C1orf101 ENST00000366534 human ensembl 70_37 +1 known missense c.1885 p.K629Q 0.279 NULL NULL - no_errors C1orf101 HGNC CCDC181 57821 genome.wustl.edu 37 1 169394090 169394090 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 169394090 169394090 A C SNP C1orf114 ENST00000367806 human ensembl 70_37 -1 known missense c.76 p.L26V 0.991 NULL NULL - no_errors C1orf114 HGNC C1orf131 128061 genome.wustl.edu 37 1 231374579 231374579 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 231374579 231374579 T C SNP C1orf131 ENST00000471936 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf131 HGNC OSER1 51526 genome.wustl.edu 37 20 42825852 42825852 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 42825852 42825852 G A SNP C20orf111 ENST00000255174 human ensembl 70_37 -1 known missense c.719 p.S240L 0.998 NULL pfam_DUF776 - no_errors C20orf111 HGNC C20orf112 140688 genome.wustl.edu 37 20 31108723 31108723 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 31108723 31108723 G A SNP C20orf112 ENST00000201961 human ensembl 70_37 -1 known silent c.198 p.I66 0.996 NULL NULL - no_errors C20orf112 HGNC C20orf195 79025 genome.wustl.edu 37 20 62187146 62187146 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 62187146 62187146 C T SNP C20orf195 ENST00000370097 human ensembl 70_37 +1 known missense c.130 p.R44C 0.217 NULL superfamily_Fibronectin_type3 - no_errors C20orf195 HGNC C20orf96 140680 genome.wustl.edu 37 20 257718 257718 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 257718 257718 C A SNP C20orf96 ENST00000360321 human ensembl 70_37 -1 known missense c.792 p.K264N 0.016 NULL NULL - no_errors C20orf96 HGNC MAP3K7CL 56911 genome.wustl.edu 37 21 30547123 30547123 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 30547123 30547123 G T SNP C21orf7 ENST00000341618 human ensembl 70_37 +1 known missense c.639 p.E213D 1.000 NULL NULL - no_errors C21orf7 HGNC C2orf15 150590 genome.wustl.edu 37 2 99804685 99804685 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 99804685 99804685 C T SNP C2orf15 ENST00000424491 human ensembl 70_37 +1 known missense c.187 p.R63C 1.000 NULL pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like - no_errors C2orf15 HGNC C2orf43 60526 genome.wustl.edu 37 2 20901338 20901338 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 20901338 20901338 A C SNP C2orf43 ENST00000237822 human ensembl 70_37 -1 known missense c.778 p.L260V 0.063 pfam_DUF2305 pfam_DUF2305 - no_errors C2orf43 HGNC C2orf73 129852 genome.wustl.edu 37 2 54587518 54587518 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 54587518 54587518 C A SNP C2orf73 ENST00000398634 human ensembl 70_37 +1 known missense c.683 p.S228Y 0.999 NULL NULL - no_errors C2orf73 HGNC C3orf14 57415 genome.wustl.edu 37 3 62306187 62306187 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 62306187 62306187 G T SNP C3orf14 ENST00000232519 human ensembl 70_37 +1 known missense c.41 p.R14I 1.000 NULL NULL - no_errors C3orf14 HGNC C3orf20 84077 genome.wustl.edu 37 3 14770064 14770064 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 14770064 14770064 T C SNP C3orf20 ENST00000253697 human ensembl 70_37 +1 known silent c.1809 p.S603 0.000 NULL NULL - no_errors C3orf20 HGNC C4A 720 genome.wustl.edu 37 6 31963801 31963801 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 31963801 31963801 G T SNP C4A ENST00000428956 human ensembl 70_37 +1 known silent c.3300 p.L1100 1.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A2M_N,pfam_Netrin_module_non-TIMP,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,superfamily_TIMP-like_OB-fold,superfamily_Anaphylatoxin_,superfamily_Invasin/intimin_cell_adhesion,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C4A HGNC C4orf21 55345 genome.wustl.edu 37 4 113462071 113462071 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 113462071 113462071 G A SNP C4orf21 ENST00000505019 human ensembl 70_37 -1 known missense c.5816 p.T1939M 0.225 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC C4orf21 55345 genome.wustl.edu 37 4 113510989 113510989 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 113510989 113510989 A C SNP C4orf21 ENST00000505019 human ensembl 70_37 -1 known silent c.3018 p.V1006 0.178 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC C4orf29 80167 genome.wustl.edu 37 4 128949726 128949726 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 128949726 128949726 T G SNP C4orf29 ENST00000398965 human ensembl 70_37 +1 known missense c.796 p.L266V 0.491 pfam_DUF2048 pfam_DUF2048 - no_errors C4orf29 HGNC C4orf36 132989 genome.wustl.edu 37 4 87809014 87809014 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 87809014 87809014 G A SNP C4orf36 ENST00000295898 human ensembl 70_37 -1 known missense c.253 p.R85C 1.000 NULL NULL - no_errors C4orf36 HGNC C4orf51 646603 genome.wustl.edu 37 4 146617722 146617722 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 146617722 146617722 C A SNP C4orf51 ENST00000438731 human ensembl 70_37 +1 known missense c.245 p.T82K 0.001 NULL NULL - no_errors C4orf51 HGNC C5orf38 153571 genome.wustl.edu 37 5 2755148 2755148 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 2755148 2755148 G T SNP C5orf38 ENST00000334000 human ensembl 70_37 +1 known missense c.410 p.R137I 0.005 NULL NULL - no_errors C5orf38 HGNC C6orf10 10665 genome.wustl.edu 37 6 32261158 32261158 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 32261158 32261158 G T SNP C6orf10 ENST00000447241 human ensembl 70_37 -1 known missense c.1292 p.T431N 0.018 NULL NULL - no_errors C6orf10 HGNC C6orf118 168090 genome.wustl.edu 37 6 165703536 165703536 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 165703536 165703536 T G SNP C6orf118 ENST00000230301 human ensembl 70_37 -1 known missense c.1141 p.I381L 0.000 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC C6orf201 404220 genome.wustl.edu 37 6 4087923 4087923 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 4087923 4087923 G A SNP C6orf201 ENST00000380175 human ensembl 70_37 +1 known silent c.48 p.T16 0.001 NULL NULL - no_errors C6orf201 HGNC C6orf57 135154 genome.wustl.edu 37 6 71298317 71298317 + Splice_Site SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 71298317 71298317 G T SNP C6orf57 ENST00000370474 human ensembl 70_37 +1 known splice_site c.218-1 e3-1 1.000 - - - no_errors C6orf57 HGNC LSMEM1 286006 genome.wustl.edu 37 7 112127090 112127090 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 112127090 112127090 C T SNP C7orf53 ENST00000312849 human ensembl 70_37 +1 known silent c.240 p.F80 0.680 NULL NULL - no_errors C7orf53 HGNC C7orf57 136288 genome.wustl.edu 37 7 48081074 48081074 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 48081074 48081074 G T SNP C7orf57 ENST00000348904 human ensembl 70_37 +1 known missense c.199 p.D67Y 0.993 NULL NULL - no_errors C7orf57 HGNC C7orf62 219557 genome.wustl.edu 37 7 88423783 88423783 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 88423783 88423783 G A SNP C7orf62 ENST00000297203 human ensembl 70_37 -1 known silent c.474 p.L158 0.018 NULL NULL - no_errors C7orf62 HGNC C7orf63 79846 genome.wustl.edu 37 7 89909023 89909023 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 89909023 89909023 G A SNP C7orf63 ENST00000389297 human ensembl 70_37 +1 known silent c.1188 p.L396 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C7orf63 HGNC C7orf63 79846 genome.wustl.edu 37 7 89933282 89933282 + Splice_Site SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 89933282 89933282 G T SNP C7orf63 ENST00000389297 human ensembl 70_37 +1 known splice_site c.2051-1 e18-1 1.000 - - - no_errors C7orf63 HGNC C7orf63 79846 genome.wustl.edu 37 7 89934126 89934126 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 89934126 89934126 G T SNP C7orf63 ENST00000389297 human ensembl 70_37 +1 known missense c.2257 p.D753Y 1.000 NULL superfamily_ARM-type_fold - no_errors C7orf63 HGNC C7orf72 100130988 genome.wustl.edu 37 7 50135973 50135973 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 50135973 50135973 C T SNP C7orf72 ENST00000297001 human ensembl 70_37 +1 known missense c.292 p.R98W 0.708 NULL NULL - no_errors C7orf72 HGNC C8orf34 116328 genome.wustl.edu 37 8 69633640 69633640 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 69633640 69633640 G A SNP C8orf34 ENST00000518698 human ensembl 70_37 +1 known missense c.1372 p.E458K 0.997 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C8orf34 HGNC C8orf49 606553 genome.wustl.edu 37 8 11619398 11619398 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 11619398 11619398 T C SNP C8orf49 ENST00000525043 human ensembl 70_37 +1 known missense c.476 p.V159A 0.000 NULL NULL - no_errors C8orf49 HGNC C9orf131 138724 genome.wustl.edu 37 9 35043198 35043199 + Frame_Shift_Ins INS - - A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 35043198 35043199 - A INS C9orf131 ENST00000312292 human ensembl 70_37 +1 known frame_shift_ins c.572_573 p.S193fs 0.066:0.093 NULL NULL - no_errors C9orf131 HGNC C9orf43 257169 genome.wustl.edu 37 9 116175787 116175787 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 116175787 116175787 A C SNP C9orf43 ENST00000288462 human ensembl 70_37 +1 known missense c.14 p.D5A 0.954 NULL NULL - no_errors C9orf43 HGNC CA4 762 genome.wustl.edu 37 17 58234005 58234005 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 58234005 58234005 A C SNP CA4 ENST00000300900 human ensembl 70_37 +1 known missense c.197 p.K66T 0.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA4 HGNC CACHD1 57685 genome.wustl.edu 37 1 65068492 65068492 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 65068492 65068492 C T SNP CACHD1 ENST00000371073 human ensembl 70_37 +1 known silent c.414 p.F138 0.695 pfam_VWA_N pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC CACHD1 57685 genome.wustl.edu 37 1 65129402 65129402 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 65129402 65129402 C T SNP CACHD1 ENST00000371073 human ensembl 70_37 +1 known missense c.1976 p.A659V 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC CACHD1 57685 genome.wustl.edu 37 1 65139113 65139113 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 65139113 65139113 T C SNP CACHD1 ENST00000371073 human ensembl 70_37 +1 known missense c.2693 p.V898A 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC CACNA1B 774 genome.wustl.edu 37 9 140972693 140972693 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 140972693 140972693 T G SNP CACNA1B ENST00000371355 human ensembl 70_37 +1 known missense c.5080 p.F1694V 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_PKD_2 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 CACNA1C 775 genome.wustl.edu 37 12 2614095 2614095 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 2614095 2614095 C A SNP CACNA1C ENST00000347598 human ensembl 70_37 +1 known missense c.1201 p.L401I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC CACNA1D 776 genome.wustl.edu 37 3 53835295 53835295 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 53835295 53835295 C T SNP CACNA1D ENST00000288139 human ensembl 70_37 +1 known missense c.5311 p.P1771S 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC CACNA1S 779 genome.wustl.edu 37 1 201058460 201058460 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 201058460 201058460 C T SNP CACNA1S ENST00000362061 human ensembl 70_37 -1 known missense c.826 p.D276N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC CACNA2D1 781 genome.wustl.edu 37 7 81642812 81642812 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 81642812 81642812 T G SNP CACNA2D1 ENST00000356253 human ensembl 70_37 -1 known missense c.1237 p.I413L 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC CACNB1 782 genome.wustl.edu 37 17 37343683 37343683 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 37343683 37343683 C T SNP CACNB1 ENST00000577582 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors CACNB1 HGNC CADPS 8618 genome.wustl.edu 37 3 62467447 62467447 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 62467447 62467447 T G SNP CADPS ENST00000383710 human ensembl 70_37 -1 known missense c.3124 p.M1042L 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC CALML4 91860 genome.wustl.edu 37 15 68497641 68497641 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 68497641 68497641 C T SNP CALML4 ENST00000467889 human ensembl 70_37 -1 known missense c.74 p.G25E 0.001 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CALML4 HGNC CAMK1D 57118 genome.wustl.edu 37 10 12811675 12811675 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 12811675 12811675 G A SNP CAMK1D ENST00000378847 human ensembl 70_37 +1 known missense c.442 p.E148K 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK1D HGNC CAMK4 814 genome.wustl.edu 37 5 110818492 110818492 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 110818492 110818492 T G SNP CAMK4 ENST00000282356 human ensembl 70_37 +1 known missense c.838 p.L280V 0.999 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CAMK4 HGNC CAMSAP1 157922 genome.wustl.edu 37 9 138774900 138774900 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 138774900 138774900 T G SNP CAMSAP1 ENST00000409386 human ensembl 70_37 -1 known missense c.185 p.D62A 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC CAND1 55832 genome.wustl.edu 37 12 67698430 67698430 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 67698430 67698430 A C SNP CAND1 ENST00000299218 human ensembl 70_37 +1 known missense c.1339 p.S447R 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND1 HGNC CANX 821 genome.wustl.edu 37 5 179134136 179134136 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 179134136 179134136 G A SNP CANX ENST00000415618 human ensembl 70_37 +1 known nonsense c.354 p.W118* 1.000 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P,prints_Calret/calnex - no_errors CANX HGNC CAPN12 147968 genome.wustl.edu 37 19 39230811 39230811 + Silent SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 39230811 39230811 A T SNP CAPN12 ENST00000328867 human ensembl 70_37 -1 known silent c.609 p.A203 0.809 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN12 HGNC CAPN2 824 genome.wustl.edu 37 1 223957629 223957629 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 223957629 223957629 C T SNP CAPN2 ENST00000474026 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CAPN2 HGNC CAPZA2 830 genome.wustl.edu 37 7 116528223 116528223 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 116528223 116528223 G T SNP CAPZA2 ENST00000361183 human ensembl 70_37 +1 known nonsense c.82 p.E28* 1.000 pfam_WASH_F-actin_cap_alpha pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha - no_errors CAPZA2 HGNC CARD11 84433 genome.wustl.edu 37 7 2974166 2974166 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 2974166 2974166 G A SNP CARD11 ENST00000396946 human ensembl 70_37 -1 known missense c.1439 p.S480L 0.991 NULL pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC CASD1 64921 genome.wustl.edu 37 7 94174995 94174995 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 94174995 94174995 A C SNP CASD1 ENST00000297273 human ensembl 70_37 +1 known missense c.1615 p.I539L 1.000 pfam_Cas1_AcylTrans_dom pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC CASKIN2 57513 genome.wustl.edu 37 17 73498214 73498214 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 73498214 73498214 C T SNP CASKIN2 ENST00000321617 human ensembl 70_37 -1 known missense c.2941 p.D981N 0.752 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC CASP14 23581 genome.wustl.edu 37 19 15164574 15164574 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 15164574 15164574 C A SNP CASP14 ENST00000221740 human ensembl 70_37 +1 known missense c.208 p.Q70K 0.585 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP14 HGNC CASP6 839 genome.wustl.edu 37 4 110617577 110617577 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 110617577 110617577 T G SNP CASP6 ENST00000265164 human ensembl 70_37 -1 known missense c.296 p.K99T 0.091 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,prints_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,prints_Pept_C14_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20 - no_errors CASP6 HGNC CASP8AP2 9994 genome.wustl.edu 37 6 90572018 90572018 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 90572018 90572018 A C SNP CASP8AP2 ENST00000237177 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors CASP8AP2 HGNC CATSPER4 378807 genome.wustl.edu 37 1 26526467 26526467 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 26526467 26526467 T C SNP CATSPER4 ENST00000456354 human ensembl 70_37 +1 known missense c.905 p.F302S 0.995 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER4 HGNC CBX3 11335 genome.wustl.edu 37 7 26248030 26248030 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 26248030 26248030 A C SNP CBX3 ENST00000337620 human ensembl 70_37 +1 known missense c.185 p.E62A 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr pfam_Chromo_shadow_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Chromo_shadow_dom,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX3 HGNC CBX6 23466 genome.wustl.edu 37 22 39262280 39262280 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 39262280 39262280 G A SNP CBX6 ENST00000407418 human ensembl 70_37 -1 known silent c.1173 p.F391 1.000 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX6 HGNC CCDC116 164592 genome.wustl.edu 37 22 21989060 21989060 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 21989060 21989060 G T SNP CCDC116 ENST00000292779 human ensembl 70_37 +1 known missense c.708 p.E236D 0.062 NULL NULL - no_errors CCDC116 HGNC CCDC142 84865 genome.wustl.edu 37 2 74709300 74709300 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 74709300 74709300 T G SNP CCDC142 ENST00000393965 human ensembl 70_37 -1 known missense c.665 p.H222P 0.000 NULL NULL - no_errors CCDC142 HGNC CCDC144CP 348254 genome.wustl.edu 37 17 20241384 20241384 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 20241384 20241384 A C SNP CCDC144C ENST00000340196 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CCDC144C HGNC CCDC158 339965 genome.wustl.edu 37 4 77296769 77296769 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 77296769 77296769 C T SNP CCDC158 ENST00000434846 human ensembl 70_37 -1 putative missense c.1118 p.R373H 0.998 NULL NULL - no_errors CCDC158 HGNC CCDC160 347475 genome.wustl.edu 37 X 133379429 133379429 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 133379429 133379429 A G SNP CCDC160 ENST00000370809 human ensembl 70_37 +1 known missense c.599 p.D200G 0.008 NULL NULL - no_errors CCDC160 HGNC DRC1 92749 genome.wustl.edu 37 2 26677530 26677530 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 26677530 26677530 G A SNP CCDC164 ENST00000288710 human ensembl 70_37 +1 known silent c.1935 p.P645 0.000 NULL NULL - no_errors CCDC164 HGNC CCDC168 643677 genome.wustl.edu 37 13 103385004 103385004 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 103385004 103385004 C A SNP CCDC168 ENST00000322527 human ensembl 70_37 -1 known missense c.4156 p.A1386S 0.007 NULL NULL - no_errors CCDC168 HGNC CCDC168 643677 genome.wustl.edu 37 13 103386961 103386961 + Missense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 103386961 103386961 T A SNP CCDC168 ENST00000322527 human ensembl 70_37 -1 known missense c.2199 p.Q733H 0.000 NULL NULL - no_errors CCDC168 HGNC CCDC168 643677 genome.wustl.edu 37 13 103387185 103387185 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 103387185 103387185 C T SNP CCDC168 ENST00000322527 human ensembl 70_37 -1 known missense c.1975 p.E659K 0.147 NULL NULL - no_errors CCDC168 HGNC CCDC170 80129 genome.wustl.edu 37 6 151936779 151936779 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 151936779 151936779 A C SNP CCDC170 ENST00000367290 human ensembl 70_37 +1 known missense c.1933 p.K645Q 0.001 NULL superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC CCDC171 203238 genome.wustl.edu 37 9 15728012 15728012 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 15728012 15728012 A G SNP CCDC171 ENST00000380701 human ensembl 70_37 +1 known missense c.1838 p.D613G 1.000 superfamily_STAT_TF_coiled-coil superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC CCDC174 51244 genome.wustl.edu 37 3 14693368 14693368 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 14693368 14693368 G A SNP CCDC174 ENST00000383794 human ensembl 70_37 +1 known missense c.25 p.D9N 1.000 NULL NULL - no_errors CCDC174 HGNC CCDC175 729665 genome.wustl.edu 37 14 59992110 59992110 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 59992110 59992110 T G SNP CCDC175 ENST00000281581 human ensembl 70_37 -1 known missense c.1885 p.S629R 0.713 NULL superfamily_Prefoldin - no_errors CCDC175 HGNC CCDC38 120935 genome.wustl.edu 37 12 96300199 96300199 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 96300199 96300199 A C SNP CCDC38 ENST00000344280 human ensembl 70_37 -1 known missense c.335 p.F112C 1.000 NULL NULL - no_errors CCDC38 HGNC CCDC47 57003 genome.wustl.edu 37 17 61843464 61843464 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 61843464 61843464 A C SNP CCDC47 ENST00000225726 human ensembl 70_37 -1 known missense c.72 p.D24E 0.998 NULL pfam_DUF1682 - no_errors CCDC47 HGNC CCDC53 51019 genome.wustl.edu 37 12 102439876 102439876 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 102439876 102439876 G A SNP CCDC53 ENST00000240079 human ensembl 70_37 -1 known missense c.172 p.R58C 1.000 pfam_WASH_CCDC53 pfam_WASH_CCDC53 - no_errors CCDC53 HGNC CCDC62 84660 genome.wustl.edu 37 12 123265839 123265839 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 123265839 123265839 A C SNP CCDC62 ENST00000253079 human ensembl 70_37 +1 known missense c.358 p.K120Q 0.802 NULL superfamily_Prefoldin - no_errors CCDC62 HGNC CCDC81 60494 genome.wustl.edu 37 11 86123534 86123534 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 86123534 86123534 A C SNP CCDC81 ENST00000445632 human ensembl 70_37 +1 known missense c.1324 p.N442H 0.960 NULL superfamily_IHF-like_DNA-bd - no_errors CCDC81 HGNC CCDC83 220047 genome.wustl.edu 37 11 85627172 85627172 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 85627172 85627172 G A SNP CCDC83 ENST00000280245 human ensembl 70_37 +1 known missense c.1069 p.E357K 0.000 NULL NULL - no_errors CCDC83 HGNC CCDC88B 283234 genome.wustl.edu 37 11 64124660 64124660 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 64124660 64124660 A G SNP CCDC88B ENST00000359902 human ensembl 70_37 +1 known silent c.1839 p.G613 0.000 NULL NULL - no_errors CCDC88B HGNC CCL17 6361 genome.wustl.edu 37 16 57448995 57448995 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 57448995 57448995 C T SNP CCL17 ENST00000219244 human ensembl 70_37 +1 known nonsense c.73 p.R25* 0.969 superfamily_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL17 HGNC CCL2 6347 genome.wustl.edu 37 17 32582377 32582377 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 32582377 32582377 C A SNP CCL2 ENST00000225831 human ensembl 70_37 +1 known silent c.9 p.V3 0.974 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL2 HGNC CCNA1 8900 genome.wustl.edu 37 13 37007341 37007341 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 37007341 37007341 A T SNP CCNA1 ENST00000255465 human ensembl 70_37 +1 known missense c.280 p.R94W 0.979 pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA1 HGNC CCNA2 890 genome.wustl.edu 37 4 122739207 122739207 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 122739207 122739207 T G SNP CCNA2 ENST00000274026 human ensembl 70_37 -1 known missense c.1242 p.K414N 0.664 pfam_Cyclin_C,superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA2 HGNC CCNF 899 genome.wustl.edu 37 16 2499869 2499869 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 2499869 2499869 C A SNP CCNF ENST00000397066 human ensembl 70_37 +1 known missense c.1440 p.F480L 1.000 pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like pfam_Cyclin_N,pfam_Cyclin_C,pfam_F-box_dom_cyclin-like,superfamily_Cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors CCNF HGNC CCNJ 54619 genome.wustl.edu 37 10 97820184 97820184 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 97820184 97820184 A C SNP CCNJ ENST00000471424 human ensembl 70_37 +1 known rna NULL NULL 0.811 - - - no_errors CCNJ HGNC CCNO 10309 genome.wustl.edu 37 5 54527209 54527209 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 54527209 54527209 C T SNP CCNO ENST00000282572 human ensembl 70_37 -1 known silent c.1047 p.S349 0.098 pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNO HGNC CCSAP 126731 genome.wustl.edu 37 1 229462799 229462799 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 229462799 229462799 T G SNP CCSAP ENST00000483092 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CCSAP HGNC CCT6P3 643180 genome.wustl.edu 37 7 64526724 64526724 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 64526724 64526724 G A SNP CCT6P3 ENST00000426828 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CCT6P3 HGNC CD109 135228 genome.wustl.edu 37 6 74492449 74492449 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 74492449 74492449 G T SNP CD109 ENST00000287097 human ensembl 70_37 +1 known missense c.2076 p.E692D 1.000 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC CD14 929 genome.wustl.edu 37 5 140012163 140012163 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140012163 140012163 G A SNP CD14 ENST00000302014 human ensembl 70_37 -1 known missense c.406 p.P136S 0.098 pirsf_Monocyte_diff_Ag_CD14 pfam_Leu-rich_rpt,pirsf_Monocyte_diff_Ag_CD14 - no_errors CD14 HGNC CD180 4064 genome.wustl.edu 37 5 66478749 66478749 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 66478749 66478749 A G SNP CD180 ENST00000256447 human ensembl 70_37 -1 known missense c.1922 p.L641S 0.010 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CD180 HGNC CD200R1L 344807 genome.wustl.edu 37 3 112534815 112534815 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 112534815 112534815 G T SNP CD200R1L ENST00000398214 human ensembl 70_37 -1 known missense c.811 p.L271I 0.001 NULL pfam_CD80_C2-set,pfscan_Ig-like - no_errors CD200R1L HGNC CD22 933 genome.wustl.edu 37 19 35823807 35823807 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 35823807 35823807 G A SNP CD22 ENST00000085219 human ensembl 70_37 +1 known missense c.392 p.R131Q 0.000 smart_Ig_sub pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CD22 HGNC CD274 29126 genome.wustl.edu 37 9 5466819 5466819 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 5466819 5466819 G T SNP CD274 ENST00000381577 human ensembl 70_37 +1 known missense c.840 p.K280N 0.492 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD274 HGNC CD300A 11314 genome.wustl.edu 37 17 72469814 72469814 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 72469814 72469814 G T SNP CD300A ENST00000360141 human ensembl 70_37 +1 known missense c.180 p.K60N 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300A HGNC CD40LG 959 genome.wustl.edu 37 X 135741263 135741263 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 135741263 135741263 A G SNP CD40LG ENST00000370629 human ensembl 70_37 +1 known missense c.475 p.K159E 1.000 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_5,pfscan_TNF pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_5,pfscan_TNF,prints_TNF_ligand_5 - no_errors CD40LG HGNC CD46 4179 genome.wustl.edu 37 1 207934772 207934772 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 207934772 207934772 T C SNP CD46 ENST00000322875 human ensembl 70_37 +1 known silent c.654 p.R218 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pirsf_M_CF_CD46,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pirsf_M_CF_CD46,pfscan_Sushi_SCR_CCP - no_errors CD46 HGNC CD46 4179 genome.wustl.edu 37 1 207940686 207940686 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 207940686 207940686 C A SNP CD46 ENST00000469535 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CD46 HGNC CD47 961 genome.wustl.edu 37 3 107763025 107763025 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 107763025 107763025 T G SNP CD47 ENST00000471694 human ensembl 70_37 -1 known rna NULL NULL 0.172 - - - no_errors CD47 HGNC CD5 921 genome.wustl.edu 37 11 60885650 60885650 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 60885650 60885650 T C SNP CD5 ENST00000347785 human ensembl 70_37 +1 known missense c.98 p.F33S 0.002 superfamily_Srcr_rcpt-rel pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Tcell_CD5,prints_Srcr_rcpt - no_errors CD5 HGNC CD63 967 genome.wustl.edu 37 12 56119986 56119986 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 56119986 56119986 C A SNP CD63 ENST00000257857 human ensembl 70_37 -1 known missense c.486 p.K162N 0.004 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD63 HGNC CDC16 8881 genome.wustl.edu 37 13 115011474 115011474 + Splice_Site SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 115011474 115011474 G T SNP CDC16 ENST00000356221 human ensembl 70_37 +1 known splice_site c.848-1 e10-1 1.000 - - - no_errors CDC16 HGNC CDC42BPA 8476 genome.wustl.edu 37 1 227198659 227198659 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 227198659 227198659 G T SNP CDC42BPA ENST00000334218 human ensembl 70_37 -1 known missense c.4858 p.L1620I 1.000 smart_PAK_box_Rho-bd pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPA HGNC CDC42BPA 8476 genome.wustl.edu 37 1 227213836 227213836 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 227213836 227213836 G T SNP CDC42BPA ENST00000334218 human ensembl 70_37 -1 known missense c.4345 p.L1449I 1.000 pfam_Citron,superfamily_WD40_repeat_dom,smart_Citron pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPA HGNC CDC42BPA 8476 genome.wustl.edu 37 1 227333339 227333339 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 227333339 227333339 T G SNP CDC42BPA ENST00000334218 human ensembl 70_37 -1 known missense c.994 p.N332H 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPA HGNC CDC45 8318 genome.wustl.edu 37 22 19486625 19486625 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 19486625 19486625 T C SNP CDC45 ENST00000437685 human ensembl 70_37 +1 known missense c.751 p.W251R 1.000 pfam_CDC45 pfam_CDC45 - no_errors CDC45 HGNC CDCA7L 55536 genome.wustl.edu 37 7 21945150 21945150 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 21945150 21945150 G A SNP CDCA7L ENST00000406877 human ensembl 70_37 -1 known nonsense c.1021 p.R341* 0.970 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7L HGNC CDCP1 64866 genome.wustl.edu 37 3 45134979 45134979 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 45134979 45134979 C T SNP CDCP1 ENST00000296129 human ensembl 70_37 -1 known missense c.1417 p.E473K 0.844 NULL superfamily_CUB - no_errors CDCP1 HGNC CDH10 1008 genome.wustl.edu 37 5 24487975 24487975 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 24487975 24487975 C A SNP CDH10 ENST00000264463 human ensembl 70_37 -1 known missense c.2164 p.D722Y 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC CDH10 1008 genome.wustl.edu 37 5 24491741 24491741 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 24491741 24491741 G A SNP CDH10 ENST00000264463 human ensembl 70_37 -1 known missense c.1820 p.A607V 0.987 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH10 HGNC CDH12 1010 genome.wustl.edu 37 5 21975495 21975495 + Splice_Site SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 21975495 21975495 C T SNP CDH12 ENST00000382254 human ensembl 70_37 -1 known splice_site c.232-1 e2-1 1.000 - - - no_errors CDH12 HGNC CDH19 28513 genome.wustl.edu 37 18 64218334 64218334 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 64218334 64218334 C A SNP CDH19 ENST00000262150 human ensembl 70_37 -1 known nonsense c.772 p.E258* 0.989 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH19 HGNC CDH23 64072 genome.wustl.edu 37 10 73442211 73442211 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 73442211 73442211 T G SNP CDH23 ENST00000224721 human ensembl 70_37 +1 known missense c.1877 p.V626G 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC CDH26 60437 genome.wustl.edu 37 20 58559720 58559720 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 58559720 58559720 G T SNP CDH26 ENST00000244047 human ensembl 70_37 +1 known missense c.568 p.V190F 0.105 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC CDH8 1006 genome.wustl.edu 37 16 61747890 61747890 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 61747890 61747890 T G SNP CDH8 ENST00000583483 human ensembl 70_37 -1 putative rna NULL NULL 0.818 - - - no_errors CDH8 HGNC CDK17 5128 genome.wustl.edu 37 12 96676323 96676323 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 96676323 96676323 G A SNP CDK17 ENST00000261211 human ensembl 70_37 -1 known nonsense c.1420 p.R474* 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 CDK17 HGNC CDK5RAP2 55755 genome.wustl.edu 37 9 123216113 123216113 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 123216113 123216113 C T SNP CDK5RAP2 ENST00000349780 human ensembl 70_37 -1 known missense c.2414 p.G805E 0.282 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC CDKL2 8999 genome.wustl.edu 37 4 76523295 76523295 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 76523295 76523295 G A SNP CDKL2 ENST00000429927 human ensembl 70_37 -1 known missense c.986 p.S329F 0.998 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 CDON 50937 genome.wustl.edu 37 11 125850955 125850955 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 125850955 125850955 G T SNP CDON ENST00000392693 human ensembl 70_37 -1 known missense c.3265 p.H1089N 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CDON HGNC CECR2 27443 genome.wustl.edu 37 22 18022113 18022113 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 18022113 18022113 C T SNP CECR2 ENST00000400573 human ensembl 70_37 +1 novel nonsense c.2215 p.R739* 0.952 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors CECR2 HGNC CENPC 1060 genome.wustl.edu 37 4 68384053 68384053 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 68384053 68384053 T G SNP CENPC1 ENST00000273853 human ensembl 70_37 -1 known missense c.651 p.K217N 0.000 NULL pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin - no_errors CENPC1 HGNC CENPF 1063 genome.wustl.edu 37 1 214792495 214792495 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 214792495 214792495 G T SNP CENPF ENST00000366955 human ensembl 70_37 +1 known nonsense c.505 p.E169* 1.000 pfam_Centromere_CenpF_N pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC CENPF 1063 genome.wustl.edu 37 1 214830323 214830323 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 214830323 214830323 G T SNP CENPF ENST00000366955 human ensembl 70_37 +1 known nonsense c.8533 p.E2845* 1.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC CENPO 79172 genome.wustl.edu 37 2 25022592 25022592 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 25022592 25022592 G A SNP CENPO ENST00000260662 human ensembl 70_37 +1 known missense c.95 p.R32H 0.000 NULL pfam_Centromere_CenpO - no_errors CENPO HGNC CEP192 55125 genome.wustl.edu 37 18 13068385 13068385 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 13068385 13068385 C A SNP CEP192 ENST00000506447 human ensembl 70_37 +1 known missense c.4786 p.L1596I 1.000 NULL NULL - no_errors CEP192 HGNC CEP290 80184 genome.wustl.edu 37 12 88534775 88534775 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 88534775 88534775 T G SNP CEP290 ENST00000309041 human ensembl 70_37 -1 known missense c.138 p.E46D 1.000 NULL NULL - no_errors CEP290 HGNC CEP76 79959 genome.wustl.edu 37 18 12678430 12678430 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 12678430 12678430 T G SNP CEP76 ENST00000262127 human ensembl 70_37 -1 known missense c.1301 p.K434T 0.977 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CEP76 HGNC CEP97 79598 genome.wustl.edu 37 3 101476538 101476538 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 101476538 101476538 C T SNP CEP97 ENST00000327230 human ensembl 70_37 +1 known missense c.1088 p.A363V 1.000 NULL pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors CEP97 HGNC CES5AP1 649264 genome.wustl.edu 37 22 23708516 23708516 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 23708516 23708516 A C SNP CES5AP1 ENST00000422151 human ensembl 70_37 -1 known rna NULL NULL 0.841 - - - no_errors CES5AP1 HGNC CES5AP1 649264 genome.wustl.edu 37 22 23708532 23708532 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 23708532 23708532 T G SNP CES5AP1 ENST00000422151 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors CES5AP1 HGNC CFB 629 genome.wustl.edu 37 6 31918952 31918952 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 31918952 31918952 A C SNP CFB ENST00000556679 human ensembl 70_37 +1 known missense c.3393 p.K1131N 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1_S6,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CFB HGNC CFHR4 10877 genome.wustl.edu 37 1 196876118 196876118 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 196876118 196876118 T G SNP CFHR4 ENST00000367416 human ensembl 70_37 +1 known missense c.564 p.D188E 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR4 HGNC CFTR 1080 genome.wustl.edu 37 7 117251805 117251805 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 117251805 117251805 G T SNP CFTR ENST00000003084 human ensembl 70_37 +1 known nonsense c.3310 p.E1104* 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC CHAF1A 10036 genome.wustl.edu 37 19 4405955 4405955 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 4405955 4405955 A G SNP CHAF1A ENST00000301280 human ensembl 70_37 +1 known missense c.99 p.I33M 1.000 NULL pfam_CAF1A,pfam_CAF-1_p150 - no_errors CHAF1A HGNC CHD1L 9557 genome.wustl.edu 37 1 146756159 146756159 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 146756159 146756159 G A SNP CHD1L ENST00000369258 human ensembl 70_37 +1 known missense c.1841 p.R614Q 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_A1pp,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors CHD1L HGNC CHD3 1107 genome.wustl.edu 37 17 7807175 7807175 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 7807175 7807175 C A SNP CHD3 ENST00000330494 human ensembl 70_37 +1 known missense c.3760 p.H1254N 1.000 NULL pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD3 HGNC CHI3L1 1116 genome.wustl.edu 37 1 203154457 203154457 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 203154457 203154457 C T SNP CHI3L1 ENST00000255409 human ensembl 70_37 -1 known missense c.112 p.D38N 0.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L1 HGNC CHID1 66005 genome.wustl.edu 37 11 899391 899391 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 899391 899391 A G SNP CHID1 ENST00000323541 human ensembl 70_37 -1 known missense c.647 p.F216S 1.000 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHID1 HGNC CHM 1121 genome.wustl.edu 37 X 85218695 85218695 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 85218695 85218695 C A SNP CHM ENST00000357749 human ensembl 70_37 -1 known missense c.677 p.R226I 1.000 pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC CHN1 1123 genome.wustl.edu 37 2 175689189 175689189 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 175689189 175689189 G T SNP CHN1 ENST00000409900 human ensembl 70_37 -1 known missense c.685 p.L229I 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_N-chimaerin,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SH2,superfamily_Rho_GTPase_activation_prot,smart_SH2,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pirsf_N-chimaerin,pfscan_SH2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_DAG/PE-bd - no_errors CHN1 HGNC CHORDC1 26973 genome.wustl.edu 37 11 89944496 89944496 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 89944496 89944496 T G SNP CHORDC1 ENST00000533772 human ensembl 70_37 -1 known missense c.337 p.N113H 0.998 NULL pfam_CHORD - no_errors CHORDC1 HGNC CHRM2 1129 genome.wustl.edu 37 7 136700256 136700256 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 136700256 136700256 G A SNP CHRM2 ENST00000320658 human ensembl 70_37 +1 known missense c.644 p.S215N 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC CIB4 130106 genome.wustl.edu 37 2 26863416 26863416 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 26863416 26863416 C A SNP CIB4 ENST00000288861 human ensembl 70_37 -1 known missense c.74 p.R25I 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CIB4 HGNC CILP 8483 genome.wustl.edu 37 15 65495702 65495702 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 65495702 65495702 A C SNP CILP ENST00000261883 human ensembl 70_37 -1 known missense c.1026 p.F342L 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors CILP HGNC CIT 11113 genome.wustl.edu 37 12 120142196 120142196 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 120142196 120142196 T G SNP CIT ENST00000261833 human ensembl 70_37 -1 known missense c.5150 p.E1717A 1.000 pfam_Citron,smart_Citron,pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CIT HGNC CLCA4 22802 genome.wustl.edu 37 1 87036839 87036839 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 87036839 87036839 C A SNP CLCA4 ENST00000370563 human ensembl 70_37 +1 known missense c.1262 p.S421Y 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA4 HGNC CLCN6 1185 genome.wustl.edu 37 1 11867239 11867239 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 11867239 11867239 G T SNP CLCN6 ENST00000346436 human ensembl 70_37 +1 known missense c.139 p.D47Y 1.000 NULL pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-6 - no_errors CLCN6 HGNC CLDN18 51208 genome.wustl.edu 37 3 137729205 137729205 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 137729205 137729205 C T SNP CLDN18 ENST00000183605 human ensembl 70_37 +1 known silent c.138 p.Y46 0.990 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin - no_errors CLDN18 HGNC CLDN25 644672 genome.wustl.edu 37 11 113651087 113651087 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 113651087 113651087 A G SNP CLDN25 ENST00000453129 human ensembl 70_37 +1 known silent c.570 p.G190 0.606 NULL pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN25 HGNC CLEC18B 497190 genome.wustl.edu 37 16 74444526 74444526 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 74444526 74444526 G T SNP CLEC18B ENST00000339953 human ensembl 70_37 -1 known silent c.1119 p.L373 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_CAP_domain,pfam_C-type_lectin,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EG-like_dom,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1 - no_errors CLEC18B HGNC CLEC9A 283420 genome.wustl.edu 37 12 10194129 10194129 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 10194129 10194129 C A SNP CLEC9A ENST00000544751 human ensembl 70_37 +1 known rna NULL NULL 0.986 - - - no_errors CLEC9A HGNC CLHC1 130162 genome.wustl.edu 37 2 55403113 55403113 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 55403113 55403113 T C SNP CLHC1 ENST00000401408 human ensembl 70_37 -1 known missense c.1574 p.E525G 0.154 pirsf_Clathrin_heavy-chain-rel superfamily_ARM-type_fold,pirsf_Clathrin_heavy-chain-rel - no_errors CLHC1 HGNC CLIC5 53405 genome.wustl.edu 37 6 46047901 46047901 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 46047901 46047901 C A SNP CLIC5 ENST00000185206 human ensembl 70_37 -1 known nonsense c.79 p.E27* 0.028 NULL superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC5 HGNC CLIP2 7461 genome.wustl.edu 37 7 73753046 73753046 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 73753046 73753046 C T SNP CLIP2 ENST00000223398 human ensembl 70_37 +1 known silent c.390 p.F130 0.999 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC CLIP3 25999 genome.wustl.edu 37 19 36508779 36508779 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 36508779 36508779 C T SNP CLIP3 ENST00000360535 human ensembl 70_37 -1 known missense c.1298 p.R433H 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC CLK1 1195 genome.wustl.edu 37 2 201721630 201721630 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 201721630 201721630 G A SNP CLK1 ENST00000321356 human ensembl 70_37 -1 known missense c.911 p.A304V 0.001 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CLK1 HGNC CLK4 57396 genome.wustl.edu 37 5 178043942 178043942 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 178043942 178043942 G A SNP CLK4 ENST00000522136 human ensembl 70_37 -1 known missense c.392 p.S131L 1.000 NULL NULL - no_errors CLK4 HGNC CLMN 79789 genome.wustl.edu 37 14 95669685 95669685 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 95669685 95669685 A G SNP CLMN ENST00000298912 human ensembl 70_37 -1 known silent c.2001 p.R667 0.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC CLSTN2 64084 genome.wustl.edu 37 3 140122483 140122483 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 140122483 140122483 C T SNP CLSTN2 ENST00000458420 human ensembl 70_37 +1 known missense c.245 p.A82V 0.981 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC CLTC 1213 genome.wustl.edu 37 17 57759153 57759153 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 57759153 57759153 A G SNP CLTC ENST00000269122 human ensembl 70_37 +1 known missense c.3395 p.D1132G 1.000 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTC HGNC CLUL1 27098 genome.wustl.edu 37 18 641528 641528 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 641528 641528 T G SNP CLUL1 ENST00000338387 human ensembl 70_37 +1 known missense c.1196 p.F399C 0.965 pfam_Clusterin-like,smart_Clusterin_C pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLUL1 HGNC CMTM2 146225 genome.wustl.edu 37 16 66620928 66620928 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 66620928 66620928 C T SNP CMTM2 ENST00000268595 human ensembl 70_37 +1 known missense c.473 p.A158V 0.000 NULL NULL - no_errors CMTM2 HGNC CMYA5 202333 genome.wustl.edu 37 5 79029421 79029421 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 79029421 79029421 A T SNP CMYA5 ENST00000446378 human ensembl 70_37 +1 known missense c.4833 p.Q1611H 0.001 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC CNBD2 140894 genome.wustl.edu 37 20 34572030 34572030 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 34572030 34572030 G A SNP CNBD2 ENST00000373973 human ensembl 70_37 +1 known silent c.534 p.P178 0.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNBD2 HGNC CNGA2 1260 genome.wustl.edu 37 X 150912703 150912703 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 150912703 150912703 G T SNP CNGA2 ENST00000329903 human ensembl 70_37 +1 known missense c.1728 p.E576D 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA2 HGNC CNIH3 149111 genome.wustl.edu 37 1 224918219 224918219 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 224918219 224918219 C T SNP CNIH3 ENST00000272133 human ensembl 70_37 +1 known missense c.254 p.A85V 1.000 pfam_Cornichon pfam_Cornichon - no_errors CNIH3 HGNC CNKSR2 22866 genome.wustl.edu 37 X 21613112 21613112 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 21613112 21613112 C A SNP CNKSR2 ENST00000379510 human ensembl 70_37 +1 known missense c.1851 p.F617L 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC CNOT10 25904 genome.wustl.edu 37 3 32801030 32801030 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 32801030 32801030 T G SNP CNOT10 ENST00000454516 human ensembl 70_37 +1 known missense c.1856 p.L619R 1.000 NULL pfam_TPR-1,smart_TPR_repeat - no_errors CNOT10 HGNC CNOT6 57472 genome.wustl.edu 37 5 179996326 179996326 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 179996326 179996326 C A SNP CNOT6 ENST00000261951 human ensembl 70_37 +1 known missense c.1244 p.S415Y 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,pfam_Leu-rich_rpt,superfamily_Endo/exonuclease/phosphatase,smart_Leu-rich_rpt_typical-subtyp - no_errors CNOT6 HGNC CNTF 1270 genome.wustl.edu 37 11 58391931 58391931 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 58391931 58391931 C A SNP CNTF ENST00000361987 human ensembl 70_37 +1 known missense c.539 p.S180Y 0.575 pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core - no_errors CNTF HGNC CNTNAP3B 728577 genome.wustl.edu 37 9 43815872 43815872 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 43815872 43815872 C A SNP CNTNAP3B ENST00000377564 human ensembl 70_37 +1 known missense c.626 p.S209Y 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3B HGNC CNTNAP4 85445 genome.wustl.edu 37 16 76481986 76481986 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 76481986 76481986 G T SNP CNTNAP4 ENST00000307431 human ensembl 70_37 +1 known missense c.613 p.D205Y 1.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC CNTNAP5 129684 genome.wustl.edu 37 2 124999880 124999880 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 124999880 124999880 C T SNP CNTNAP5 ENST00000431078 human ensembl 70_37 +1 known silent c.291 p.Y97 0.874 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_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC COCH 1690 genome.wustl.edu 37 14 31358935 31358935 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 31358935 31358935 G T SNP COCH ENST00000216361 human ensembl 70_37 +1 known nonsense c.1591 p.E531* 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors COCH HGNC COG1 9382 genome.wustl.edu 37 17 71192823 71192823 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 71192823 71192823 C T SNP COG1 ENST00000299886 human ensembl 70_37 +1 known nonsense c.493 p.R165* 0.000 NULL pfam_Vps51 - no_errors COG1 HGNC COL11A1 1301 genome.wustl.edu 37 1 103352442 103352442 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 103352442 103352442 C A SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known missense c.4815 p.M1605I 1.000 pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC COL13A1 1305 genome.wustl.edu 37 10 71562411 71562411 + Missense_Mutation SNP G G C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 71562411 71562411 G C SNP COL13A1 ENST00000356340 human ensembl 70_37 +1 known missense c.232 p.E78Q 0.982 NULL pfam_Collagen - no_errors COL13A1 HGNC COL19A1 1310 genome.wustl.edu 37 6 70856566 70856566 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 70856566 70856566 C T SNP COL19A1 ENST00000322773 human ensembl 70_37 +1 known missense c.1786 p.P596S 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC COL22A1 169044 genome.wustl.edu 37 8 139629177 139629177 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 139629177 139629177 A C SNP COL22A1 ENST00000303045 human ensembl 70_37 -1 known missense c.3850 p.S1284A 0.003 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC COL24A1 255631 genome.wustl.edu 37 1 86487947 86487947 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 86487947 86487947 C T SNP COL24A1 ENST00000370571 human ensembl 70_37 -1 known silent c.2232 p.G744 0.968 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC COL24A1 255631 genome.wustl.edu 37 1 86488648 86488648 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 86488648 86488648 G T SNP COL24A1 ENST00000370571 human ensembl 70_37 -1 known missense c.2092 p.P698T 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC COL25A1 84570 genome.wustl.edu 37 4 109767295 109767295 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 109767295 109767295 C T SNP COL25A1 ENST00000399132 human ensembl 70_37 -1 known silent c.1515 p.P505 1.000 NULL pfam_Collagen - no_errors COL25A1 HGNC COL2A1 1280 genome.wustl.edu 37 12 48369798 48369798 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 48369798 48369798 C T SNP COL2A1 ENST00000380518 human ensembl 70_37 -1 known missense c.3545 p.G1182D 1.000 pfam_Collagen 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 COL2A1 HGNC COL4A2 1284 genome.wustl.edu 37 13 111155804 111155804 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 111155804 111155804 C T SNP COL4A2 ENST00000360467 human ensembl 70_37 +1 known missense c.4114 p.P1372S 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A2 HGNC COL4A2 1284 genome.wustl.edu 37 13 111160572 111160572 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 111160572 111160572 T G SNP COL4A2 ENST00000480609 human ensembl 70_37 +1 putative rna NULL NULL 0.321 - - - no_errors COL4A2 HGNC COL4A6 1288 genome.wustl.edu 37 X 107431200 107431200 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 107431200 107431200 G T SNP COL4A6 ENST00000372216 human ensembl 70_37 -1 known missense c.1648 p.L550I 0.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A6 HGNC COL6A3 1293 genome.wustl.edu 37 2 238285451 238285451 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 238285451 238285451 G T SNP COL6A3 ENST00000295550 human ensembl 70_37 -1 known missense c.3034 p.L1012I 0.954 NULL pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC COL6A5 256076 genome.wustl.edu 37 3 130190558 130190558 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 130190558 130190558 A G SNP COL6A5 ENST00000265379 human ensembl 70_37 +1 known missense c.7607 p.E2536G 0.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC COL6A6 131873 genome.wustl.edu 37 3 130287239 130287239 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 130287239 130287239 A G SNP COL6A6 ENST00000358511 human ensembl 70_37 +1 known missense c.2192 p.D731G 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC COMMD3 23412 genome.wustl.edu 37 10 22607675 22607675 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 22607675 22607675 T G SNP COMMD3 ENST00000463688 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors COMMD3 HGNC COQ6 51004 genome.wustl.edu 37 14 74422517 74422517 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 74422517 74422517 G A SNP COQ6 ENST00000334571 human ensembl 70_37 +1 known missense c.367 p.A123T 1.000 tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases pfam_mOase_FAD-bd,prints_Rng_hydrolase-like,tigrfam_UbQ_biosynth_mOase,tigrfam_Ubi_Hdrxlases - no_errors COQ6 HGNC CORIN 10699 genome.wustl.edu 37 4 47625621 47625621 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 47625621 47625621 T G SNP CORIN ENST00000273857 human ensembl 70_37 -1 known missense c.2507 p.K836T 0.998 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_corin,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CORIN HGNC CORIN 10699 genome.wustl.edu 37 4 47667068 47667068 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 47667068 47667068 C T SNP CORIN ENST00000273857 human ensembl 70_37 -1 known missense c.1570 p.E524K 0.896 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom pfam_Peptidase_S1_S6,pfam_LDrepeatLR_classA_rpt,pfam_Frizzled_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_Frizzled_dom,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pirsf_Peptidase_S1A_corin,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CORIN HGNC CPLX4 339302 genome.wustl.edu 37 18 56985653 56985653 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 56985653 56985653 C A SNP CPLX4 ENST00000299721 human ensembl 70_37 -1 known missense c.42 p.K14N 1.000 pfam_Synaphin pfam_Synaphin - no_errors CPLX4 HGNC CPNE7 27132 genome.wustl.edu 37 16 89645291 89645291 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 89645291 89645291 C T SNP CPNE7 ENST00000268720 human ensembl 70_37 +1 known silent c.384 p.V128 0.001 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A - no_errors CPNE7 HGNC CPO 130749 genome.wustl.edu 37 2 207823079 207823079 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 207823079 207823079 C A SNP CPO ENST00000272852 human ensembl 70_37 +1 known missense c.322 p.H108N 1.000 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 pfam_Peptidase_M14,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPO HGNC CPQ 10404 genome.wustl.edu 37 8 97797327 97797327 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 97797327 97797327 G A SNP CPQ ENST00000220763 human ensembl 70_37 +1 known missense c.202 p.A68T 1.000 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC CPS1 1373 genome.wustl.edu 37 2 211447406 211447406 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 211447406 211447406 G A SNP CPS1 ENST00000430249 human ensembl 70_37 +1 known silent c.612 p.Q204 1.000 superfamily_CarbamoylP_synth_ssu_N,tigrfam_CarbamoylP_synth_ssu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE_1,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC CPSF4 10898 genome.wustl.edu 37 7 99036754 99036754 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 99036754 99036754 A G SNP CPSF4 ENST00000292476 human ensembl 70_37 +1 known missense c.49 p.I17V 1.000 NULL pfam_Znf_CCCH,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors CPSF4 HGNC CPXCR1 53336 genome.wustl.edu 37 X 88009171 88009171 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 88009171 88009171 T G SNP CPXCR1 ENST00000276127 human ensembl 70_37 +1 known silent c.756 p.G252 0.057 NULL pfscan_Znf_C2H2 - no_errors CPXCR1 HGNC CR1 1378 genome.wustl.edu 37 1 207780600 207780600 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 207780600 207780600 C T SNP CR1 ENST00000367049 human ensembl 70_37 +1 known nonsense c.5815 p.R1939* 0.771 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC CR1L 1379 genome.wustl.edu 37 1 207884022 207884022 + RNA SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 207884022 207884022 T A SNP CR1L ENST00000530905 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CR1L HGNC CREBBP 1387 genome.wustl.edu 37 16 3900884 3900884 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 3900884 3900884 G A SNP CREBBP ENST00000262367 human ensembl 70_37 -1 known missense c.212 p.S71L 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC CRISP2 7180 genome.wustl.edu 37 6 49663612 49663612 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 49663612 49663612 T C SNP CRISP2 ENST00000339139 human ensembl 70_37 -1 known missense c.541 p.T181A 0.096 superfamily_CAP_domain pfam_Cysteine_rich_secretory,pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors CRISP2 HGNC CROT 54677 genome.wustl.edu 37 7 87011272 87011272 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 87011272 87011272 T C SNP CROT ENST00000331536 human ensembl 70_37 +1 known missense c.1025 p.V342A 0.995 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC CRYBG3 131544 genome.wustl.edu 37 3 97596184 97596184 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 97596184 97596184 T C SNP CRYBG3 ENST00000182096 human ensembl 70_37 +1 known missense c.302 p.V101A 0.697 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC CSF3R 1441 genome.wustl.edu 37 1 36937198 36937198 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 36937198 36937198 G T SNP CSF3R ENST00000373103 human ensembl 70_37 -1 known missense c.1121 p.S374Y 0.807 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC CSH1 1442 genome.wustl.edu 37 17 61972703 61972703 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 61972703 61972703 G A SNP CSH1 ENST00000329882 human ensembl 70_37 -1 putative missense c.586 p.R196C 0.003 NULL pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSH1 HGNC CSMD1 64478 genome.wustl.edu 37 8 3000164 3000164 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 3000164 3000164 C T SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.6067 p.E2023K 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC CSMD1 64478 genome.wustl.edu 37 8 3611469 3611469 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 3611469 3611469 A C SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.914 p.F305C 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC CSMD1 64478 genome.wustl.edu 37 8 3611473 3611473 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 3611473 3611473 C A SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known nonsense c.910 p.G304* 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC CSMD1 64478 genome.wustl.edu 37 8 4494910 4494910 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 4494910 4494910 A C SNP CSMD1 ENST00000520002 human ensembl 70_37 -1 known missense c.256 p.L86V 0.998 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC CSMD3 114788 genome.wustl.edu 37 8 113662424 113662424 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 113662424 113662424 G T SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.3159 p.N1053K 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC CSPG4 1464 genome.wustl.edu 37 15 75969500 75969500 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 75969500 75969500 G A SNP CSPG4 ENST00000308508 human ensembl 70_37 -1 known missense c.5360 p.A1787V 0.992 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC CSPG4 1464 genome.wustl.edu 37 15 75982483 75982483 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 75982483 75982483 G T SNP CSPG4 ENST00000308508 human ensembl 70_37 -1 known nonsense c.923 p.S308* 0.976 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC CSPP1 79848 genome.wustl.edu 37 8 68007717 68007717 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 68007717 68007717 G A SNP CSPP1 ENST00000262210 human ensembl 70_37 +1 known missense c.700 p.E234K 1.000 NULL NULL - no_errors CSPP1 HGNC CSRP2BP 57325 genome.wustl.edu 37 20 18123370 18123370 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 18123370 18123370 G A SNP CSRP2BP ENST00000278816 human ensembl 70_37 +1 known silent c.66 p.S22 0.098 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC CTAGE1 64693 genome.wustl.edu 37 18 19996268 19996268 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 19996268 19996268 A G SNP CTAGE1 ENST00000391403 human ensembl 70_37 -1 known missense c.1507 p.S503P 0.007 NULL NULL - no_errors CTAGE1 HGNC CTAGE5 4253 genome.wustl.edu 37 14 39777662 39777662 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 39777662 39777662 A C SNP CTAGE5 ENST00000396158 human ensembl 70_37 +1 known missense c.1079 p.K360T 0.709 NULL NULL - no_errors CTAGE5 HGNC CTAGE9 643854 genome.wustl.edu 37 6 132031684 132031684 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 132031684 132031684 A C SNP CTAGE9 ENST00000314099 human ensembl 70_37 -1 known silent c.474 p.S158 0.000 NULL NULL - no_errors CTAGE9 HGNC CTCF 10664 genome.wustl.edu 37 16 67670646 67670646 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 67670646 67670646 G T SNP CTCF ENST00000264010 human ensembl 70_37 +1 known nonsense c.1891 p.E631* 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC CTDP1 9150 genome.wustl.edu 37 18 77513768 77513768 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 77513768 77513768 C T SNP CTDP1 ENST00000299543 human ensembl 70_37 +1 known missense c.2864 p.A955V 0.998 pfam_FCP1_C pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC CTNNB1 1499 genome.wustl.edu 37 3 41266098 41266098 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 41266098 41266098 A G SNP CTNNB1 ENST00000349496 human ensembl 70_37 +1 known missense c.95 p.D32G 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC CTNNBL1 56259 genome.wustl.edu 37 20 36470726 36470726 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 36470726 36470726 A G SNP CTNNBL1 ENST00000472237 human ensembl 70_37 +1 putative rna NULL NULL 0.046 - - - no_errors CTNNBL1 HGNC CTNND2 1501 genome.wustl.edu 37 5 10972957 10972957 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 10972957 10972957 A C SNP CTNND2 ENST00000495388 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors CTNND2 HGNC CTR9 9646 genome.wustl.edu 37 11 10795559 10795559 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 10795559 10795559 C T SNP CTR9 ENST00000361367 human ensembl 70_37 +1 known missense c.2728 p.R910C 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC CTXN2 399697 genome.wustl.edu 37 15 48493683 48493683 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 48493683 48493683 T G SNP CTXN2 ENST00000417307 human ensembl 70_37 +1 known silent c.186 p.S62 1.000 pfam_Cortexin pfam_Cortexin - no_errors CTXN2 HGNC CUBN 8029 genome.wustl.edu 37 10 16957842 16957842 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 16957842 16957842 C A SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.7188 p.E2396D 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors CUBN HGNC CUZD1 50624 genome.wustl.edu 37 10 124593209 124593209 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 124593209 124593209 G A SNP CUZD1 ENST00000368904 human ensembl 70_37 -1 known nonsense c.1630 p.R544* 0.008 NULL pfam_ZP_dom,pfam_CUB,superfamily_CUB,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_ZP_dom,prints_ZP_dom - no_errors CUZD1 HGNC CWC25 54883 genome.wustl.edu 37 17 36971289 36971289 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 36971289 36971289 C T SNP CWC25 ENST00000225428 human ensembl 70_37 -1 known missense c.253 p.E85K 1.000 pfam_CWC25 pfam_CWC25,pfam_CIR_N_dom - no_errors CWC25 HGNC CWH43 80157 genome.wustl.edu 37 4 48988465 48988465 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 48988465 48988465 G T SNP CWH43 ENST00000226432 human ensembl 70_37 +1 known nonsense c.19 p.E7* 0.833 NULL superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC CX3CR1 1524 genome.wustl.edu 37 3 39323113 39323113 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 39323113 39323113 C A SNP CX3CR1 ENST00000358309 human ensembl 70_37 -1 known missense c.74 p.R25I 0.090 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_fractalkine_CX3CR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Duffy_chemokine_rcpt,prints_Chemokine_CXCR4 - no_errors CX3CR1 HGNC CXorf30 645090 genome.wustl.edu 37 X 36366394 36366394 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 36366394 36366394 A C SNP CXorf30 ENST00000378657 human ensembl 70_37 +1 known missense c.932 p.K311T 0.000 NULL NULL - no_errors CXorf30 HGNC CXorf30 645090 genome.wustl.edu 37 X 36379467 36379467 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 36379467 36379467 C T SNP CXorf30 ENST00000378657 human ensembl 70_37 +1 known silent c.1212 p.F404 0.152 NULL NULL - no_errors CXorf30 HGNC CXorf40B 541578 genome.wustl.edu 37 X 149102009 149102009 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 149102009 149102009 A G SNP CXorf40B ENST00000355203 human ensembl 70_37 -1 known silent c.84 p.R28 0.887 superfamily_PUA-like_domain superfamily_PUA-like_domain - no_errors CXorf40B HGNC CHDC2 286464 genome.wustl.edu 37 X 36090079 36090079 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 36090079 36090079 T G SNP CXorf59 ENST00000313548 human ensembl 70_37 +1 known missense c.181 p.L61V 0.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors CXorf59 HGNC CHDC2 286464 genome.wustl.edu 37 X 36117987 36117987 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 36117987 36117987 G T SNP CXorf59 ENST00000313548 human ensembl 70_37 +1 known missense c.843 p.Q281H 0.963 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors CXorf59 HGNC CXorf61 203413 genome.wustl.edu 37 X 115593002 115593002 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 115593002 115593002 T G SNP CXorf61 ENST00000371894 human ensembl 70_37 -1 known missense c.248 p.N83T 0.096 NULL NULL - no_errors CXorf61 HGNC CYB5R2 51700 genome.wustl.edu 37 11 7686582 7686582 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 7686582 7686582 A C SNP CYB5R2 ENST00000528585 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CYB5R2 HGNC CYP26A1 1592 genome.wustl.edu 37 10 94835604 94835604 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 94835604 94835604 G A SNP CYP26A1 ENST00000224356 human ensembl 70_37 +1 known missense c.886 p.E296K 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP26A1 HGNC CYP27A1 1593 genome.wustl.edu 37 2 219674429 219674429 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 219674429 219674429 G A SNP CYP27A1 ENST00000258415 human ensembl 70_37 +1 known missense c.385 p.D129N 0.090 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP27A1 HGNC CYP4F43P 646802 genome.wustl.edu 37 2 130798022 130798022 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 130798022 130798022 A G SNP CYP4F43P ENST00000325390 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC018865.8 Clone_based_vega_gene CYP4X1 260293 genome.wustl.edu 37 1 47489649 47489649 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 47489649 47489649 T C SNP CYP4X1 ENST00000371901 human ensembl 70_37 +1 known missense c.160 p.F54L 0.290 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4X1 HGNC DACH1 1602 genome.wustl.edu 37 13 72134009 72134009 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 72134009 72134009 G A SNP DACH1 ENST00000359684 human ensembl 70_37 -1 known missense c.1540 p.R514C 0.999 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH1 HGNC DAOA 267012 genome.wustl.edu 37 13 106142333 106142333 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 106142333 106142333 G A SNP DAOA ENST00000375936 human ensembl 70_37 +1 known missense c.365 p.R122H 0.000 NULL NULL - no_errors DAOA HGNC DBF4 10926 genome.wustl.edu 37 7 87537139 87537139 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 87537139 87537139 C T SNP DBF4 ENST00000265728 human ensembl 70_37 +1 known silent c.1686 p.D562 0.001 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4 HGNC DCAF12L2 340578 genome.wustl.edu 37 X 125298619 125298619 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 125298619 125298619 G A SNP DCAF12L2 ENST00000360028 human ensembl 70_37 -1 known missense c.1289 p.A430V 0.996 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC DCAF7 10238 genome.wustl.edu 37 17 61671187 61671187 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 61671187 61671187 T G SNP DCAF7 ENST00000577702 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors DCAF7 HGNC DCAF8L2 347442 genome.wustl.edu 37 X 27766685 27766685 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 27766685 27766685 A C SNP DCAF8L2 ENST00000451261 human ensembl 70_37 +1 known missense c.1673 p.K558T 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC DCC 1630 genome.wustl.edu 37 18 50832091 50832091 + Splice_Site SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 50832091 50832091 T G SNP DCC ENST00000442544 human ensembl 70_37 +1 known splice_site c.2053+2 e13+2 1.000 - - - no_errors DCC HGNC DCC 1630 genome.wustl.edu 37 18 51056749 51056749 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 51056749 51056749 C A SNP DCC ENST00000581580 human ensembl 70_37 +1 putative silent c.3186 p.I1062 0.000 NULL pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors DCC HGNC DCHS1 8642 genome.wustl.edu 37 11 6645079 6645079 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 6645079 6645079 T C SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known missense c.7828 p.T2610A 0.907 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC DCHS1 8642 genome.wustl.edu 37 11 6651105 6651105 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 6651105 6651105 T C SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known silent c.4833 p.Q1611 0.988 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC DCST1 149095 genome.wustl.edu 37 1 155019788 155019788 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 155019788 155019788 C T SNP DCST1 ENST00000295542 human ensembl 70_37 +1 known missense c.1612 p.P538S 1.000 pfam_DC_STAMP-like pfam_DC_STAMP-like,pfscan_Znf_RING - no_errors DCST1 HGNC DCST2 127579 genome.wustl.edu 37 1 154996951 154996951 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 154996951 154996951 C T SNP DCST2 ENST00000368424 human ensembl 70_37 -1 known missense c.1739 p.S580N 0.001 NULL pfam_DC_STAMP-like - no_errors DCST2 HGNC DCTN6 10671 genome.wustl.edu 37 8 30038070 30038070 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 30038070 30038070 C T SNP DCTN6 ENST00000221114 human ensembl 70_37 +1 known missense c.398 p.T133I 0.998 superfamily_Trimer_LpxA-like superfamily_Trimer_LpxA-like - no_errors DCTN6 HGNC DCUN1D3 123879 genome.wustl.edu 37 16 20871284 20871284 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 20871284 20871284 C T SNP DCUN1D3 ENST00000324344 human ensembl 70_37 -1 known missense c.839 p.R280Q 1.000 NULL pfam_PONY_dom - no_errors DCUN1D3 HGNC DDB2 1643 genome.wustl.edu 37 11 47256412 47256412 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 47256412 47256412 T G SNP DDB2 ENST00000256996 human ensembl 70_37 +1 known missense c.807 p.I269M 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DDB2 HGNC DDX28 55794 genome.wustl.edu 37 16 68055763 68055763 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 68055763 68055763 C T SNP DDX28 ENST00000332395 human ensembl 70_37 -1 known missense c.1343 p.R448Q 0.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX28 HGNC DDX60 55601 genome.wustl.edu 37 4 169158512 169158512 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 169158512 169158512 C A SNP DDX60 ENST00000393743 human ensembl 70_37 -1 known nonsense c.4336 p.E1446* 0.991 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC DDX60 55601 genome.wustl.edu 37 4 169208334 169208334 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 169208334 169208334 C A SNP DDX60 ENST00000393743 human ensembl 70_37 -1 known missense c.1204 p.D402Y 0.005 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX60 HGNC DENND2A 27147 genome.wustl.edu 37 7 140301317 140301317 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 140301317 140301317 C A SNP DENND2A ENST00000275884 human ensembl 70_37 -1 known missense c.881 p.R294I 0.996 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 DENND2A HGNC DENND2A 27147 genome.wustl.edu 37 7 140302122 140302122 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 140302122 140302122 T G SNP DENND2A ENST00000275884 human ensembl 70_37 -1 known silent c.76 p.R26 0.000 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 DENND2A HGNC DENND4C 55667 genome.wustl.edu 37 9 19316628 19316628 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 19316628 19316628 A C SNP DENND4C ENST00000380437 human ensembl 70_37 +1 known missense c.890 p.K297T 0.999 NULL pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC DEPDC5 9681 genome.wustl.edu 37 22 32289577 32289577 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 32289577 32289577 T C SNP DEPDC5 ENST00000266091 human ensembl 70_37 +1 known missense c.3977 p.V1326A 1.000 NULL pfam_DUF3608,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors DEPDC5 HGNC DET1 55070 genome.wustl.edu 37 15 89060067 89060067 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 89060067 89060067 T C SNP DET1 ENST00000444300 human ensembl 70_37 -1 known missense c.1442 p.D481G 1.000 pfam_De-etiolated_protein_1_Det1 pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC DGKD 8527 genome.wustl.edu 37 2 234294805 234294806 + RNA INS - - T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 234294805 234294806 - T INS DGKD ENST00000489613 human ensembl 70_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors DGKD HGNC DGKK 139189 genome.wustl.edu 37 X 50111812 50111812 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 50111812 50111812 G T SNP DGKK ENST00000376025 human ensembl 70_37 -1 known rna NULL NULL 0.557 - - - no_errors DGKK HGNC DGKK 139189 genome.wustl.edu 37 X 50213188 50213188 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 50213188 50213188 C A SNP DGKK ENST00000376025 human ensembl 70_37 -1 known rna NULL NULL 0.020 - - - no_errors DGKK HGNC DHDH 27294 genome.wustl.edu 37 19 49438278 49438278 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 49438278 49438278 G A SNP DHDH ENST00000221403 human ensembl 70_37 +1 known missense c.112 p.D38N 0.584 pfam_Oxidoreductase_N pfam_Oxidoreductase_N - no_errors DHDH HGNC DHRS7B 25979 genome.wustl.edu 37 17 21094389 21094389 + Missense_Mutation SNP C C G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 21094389 21094389 C G SNP DHRS7B ENST00000395511 human ensembl 70_37 +1 known missense c.901 p.R301G 0.917 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_DUF1776_fun,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7B HGNC DHX9 1660 genome.wustl.edu 37 1 182827939 182827939 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 182827939 182827939 A C SNP DHX9 ENST00000367549 human ensembl 70_37 +1 known missense c.972 p.Q324H 1.000 NULL pfam_Ds-RNA-bd,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Ds-RNA-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd - no_errors DHX9 HGNC DICER1 23405 genome.wustl.edu 37 14 95596528 95596528 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 95596528 95596528 A G SNP DICER1 ENST00000343455 human ensembl 70_37 -1 known missense c.440 p.V147A 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DICER1 HGNC DKK1 22943 genome.wustl.edu 37 10 54076460 54076460 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 54076460 54076460 G T SNP DKK1 ENST00000373970 human ensembl 70_37 +1 known nonsense c.694 p.E232* 1.000 NULL pfam_Dickkopf_N - no_errors DKK1 HGNC DLAT 1737 genome.wustl.edu 37 11 111916683 111916683 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 111916683 111916683 G T SNP DLAT ENST00000280346 human ensembl 70_37 +1 known nonsense c.1387 p.E463* 1.000 pfam_2-oxoacid_DH_actylTfrase,tigrfam_AcTrfase_Pyrv_DH_cplx_L pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_AcTrfase_Pyrv_DH_cplx_L - no_errors DLAT HGNC DLG2 1740 genome.wustl.edu 37 11 83874521 83874521 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 83874521 83874521 C A SNP DLG2 ENST00000376104 human ensembl 70_37 -1 known nonsense c.607 p.E203* 1.000 pfam_PDZ,superfamily_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_PDZ,pfam_Guanylate_kin,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG2 HGNC DMD 1756 genome.wustl.edu 37 X 31196837 31196837 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 31196837 31196837 C T SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.10172 p.R3391Q 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC DMD 1756 genome.wustl.edu 37 X 31496411 31496411 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 31496411 31496411 T G SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.8749 p.K2917Q 0.839 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 DMD 1756 genome.wustl.edu 37 X 31950329 31950329 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 31950329 31950329 C A SNP DMD ENST00000357033 human ensembl 70_37 -1 known missense c.6630 p.K2210N 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC DMPK 1760 genome.wustl.edu 37 19 46285499 46285499 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 46285499 46285499 C T SNP DMPK ENST00000291270 human ensembl 70_37 -1 known missense c.112 p.A38T 0.020 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors DMPK HGNC DMXL1 1657 genome.wustl.edu 37 5 118433713 118433713 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 118433713 118433713 G A SNP DMXL1 ENST00000539542 human ensembl 70_37 +1 known missense c.127 p.D43N 1.000 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC DNA2 1763 genome.wustl.edu 37 10 70209937 70209937 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 70209937 70209937 C A SNP DNA2 ENST00000399180 human ensembl 70_37 -1 known nonsense c.1045 p.E349* 1.000 pfam_DNA_replication_fac_Dna2_N pfam_DNA_replication_fac_Dna2_N - no_errors DNA2 HGNC DNAH10 196385 genome.wustl.edu 37 12 124382351 124382351 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 124382351 124382351 A G SNP DNAH10 ENST00000409039 human ensembl 70_37 +1 known silent c.8961 p.E2987 0.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC DNAH11 8701 genome.wustl.edu 37 7 21675628 21675628 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 21675628 21675628 A G SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.4655 p.E1552G 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC DNAH11 8701 genome.wustl.edu 37 7 21677310 21677310 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 21677310 21677310 T G SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.4822 p.L1608V 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC DNAH11 8701 genome.wustl.edu 37 7 21904205 21904205 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 21904205 21904205 G T SNP DNAH11 ENST00000328843 human ensembl 70_37 +1 known missense c.11447 p.R3816L 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC DNAH2 146754 genome.wustl.edu 37 17 7678138 7678138 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 7678138 7678138 T G SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.4563 p.D1521E 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC DNAH3 55567 genome.wustl.edu 37 16 20981115 20981115 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 20981115 20981115 G A SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known silent c.8457 p.S2819 0.110 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC DNAH3 55567 genome.wustl.edu 37 16 21086767 21086767 + Splice_Site SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 21086767 21086767 C T SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known splice_site c.3084+1 e21+1 1.000 - - - no_errors DNAH3 HGNC DNAH6 1768 genome.wustl.edu 37 2 84800608 84800608 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 84800608 84800608 A G SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known silent c.1821 p.A607 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC DNAH6 1768 genome.wustl.edu 37 2 85023530 85023530 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 85023530 85023530 T G SNP DNAH6 ENST00000237449 human ensembl 70_37 +1 known missense c.11340 p.D3780E 0.763 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC DNAH7 56171 genome.wustl.edu 37 2 196636535 196636535 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 196636535 196636535 G T SNP DNAH7 ENST00000312428 human ensembl 70_37 -1 known missense c.11282 p.P3761Q 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC DNAH8 1769 genome.wustl.edu 37 6 38738332 38738332 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 38738332 38738332 G T SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known missense c.1110 p.E370D 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC DNAH8 1769 genome.wustl.edu 37 6 38820563 38820564 + Frame_Shift_Ins INS - - A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 38820563 38820564 - A INS DNAH8 ENST00000359357 human ensembl 70_37 +1 known frame_shift_ins c.4909_4910 p.I1639fs 1.000:1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC DNAH8 1769 genome.wustl.edu 37 6 38834409 38834409 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 38834409 38834409 A C SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known missense c.5890 p.K1964Q 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 DNAH8 HGNC DNAH8 1769 genome.wustl.edu 37 6 38881726 38881726 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 38881726 38881726 G A SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known missense c.9310 p.E3104K 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC DNAH8 1769 genome.wustl.edu 37 6 38893972 38893972 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 38893972 38893972 G T SNP DNAH8 ENST00000359357 human ensembl 70_37 +1 known nonsense c.10453 p.E3485* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC DNAH9 1770 genome.wustl.edu 37 17 11700923 11700923 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 11700923 11700923 G T SNP DNAH9 ENST00000262442 human ensembl 70_37 +1 known missense c.8233 p.D2745Y 0.998 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC DNAI2 64446 genome.wustl.edu 37 17 72283153 72283153 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 72283153 72283153 A C SNP DNAI2 ENST00000311014 human ensembl 70_37 +1 known missense c.383 p.D128A 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC DNAI2 64446 genome.wustl.edu 37 17 72301440 72301440 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 72301440 72301440 T G SNP DNAI2 ENST00000311014 human ensembl 70_37 +1 known missense c.1070 p.V357G 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_dom - no_errors DNAI2 HGNC DNAJC11 55735 genome.wustl.edu 37 1 6695696 6695696 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 6695696 6695696 G T SNP DNAJC11 ENST00000465508 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors DNAJC11 HGNC DNAJC21 134218 genome.wustl.edu 37 5 34945078 34945078 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 34945078 34945078 A C SNP DNAJC21 ENST00000382021 human ensembl 70_37 +1 known missense c.1090 p.N364H 0.985 NULL pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC21 HGNC DNAJC6 9829 genome.wustl.edu 37 1 65831606 65831606 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 65831606 65831606 C A SNP DNAJC6 ENST00000371069 human ensembl 70_37 +1 known missense c.383 p.S128Y 1.000 pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors DNAJC6 HGNC DNAJC6 9829 genome.wustl.edu 37 1 65878639 65878639 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 65878639 65878639 G T SNP DNAJC6 ENST00000371069 human ensembl 70_37 +1 known missense c.2844 p.K948N 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DnaJ_N,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors DNAJC6 HGNC DNMT1 1786 genome.wustl.edu 37 19 10265036 10265036 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 10265036 10265036 T G SNP DNMT1 ENST00000359526 human ensembl 70_37 -1 known missense c.1952 p.Q651P 1.000 pirsf_DNA_C5-MeTrfase_1_euk pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC DOC2B 8447 genome.wustl.edu 37 17 6018 6018 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 6018 6018 C T SNP DOC2B ENST00000343572 human ensembl 70_37 -1 known missense c.916 p.V306M 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom - no_errors DOC2B HGNC DOCK1 1793 genome.wustl.edu 37 10 128788832 128788832 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 128788832 128788832 G T SNP DOCK1 ENST00000280333 human ensembl 70_37 +1 known missense c.438 p.K146N 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC DOCK10 55619 genome.wustl.edu 37 2 225670166 225670166 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 225670166 225670166 T C SNP DOCK10 ENST00000258390 human ensembl 70_37 -1 known missense c.3895 p.T1299A 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC DOCK11 139818 genome.wustl.edu 37 X 117809942 117809942 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 117809942 117809942 A C SNP DOCK11 ENST00000276202 human ensembl 70_37 +1 known missense c.5243 p.K1748T 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC DOCK2 1794 genome.wustl.edu 37 5 169461438 169461438 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 169461438 169461438 C T SNP DOCK2 ENST00000256935 human ensembl 70_37 +1 known missense c.3503 p.A1168V 0.944 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC DOCK2 1794 genome.wustl.edu 37 5 169472857 169472857 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 169472857 169472857 C T SNP DOCK2 ENST00000256935 human ensembl 70_37 +1 known missense c.3914 p.A1305V 0.999 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RNR-like,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC DOCK3 1795 genome.wustl.edu 37 3 51251661 51251661 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 51251661 51251661 C A SNP DOCK3 ENST00000266037 human ensembl 70_37 +1 known missense c.1235 p.P412H 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC DOCK5 80005 genome.wustl.edu 37 8 25156598 25156598 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 25156598 25156598 G T SNP DOCK5 ENST00000276440 human ensembl 70_37 +1 known missense c.745 p.D249Y 1.000 NULL pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC DOCK5 80005 genome.wustl.edu 37 8 25226173 25226173 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 25226173 25226173 A G SNP DOCK5 ENST00000276440 human ensembl 70_37 +1 known missense c.3370 p.T1124A 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC DOCK5 80005 genome.wustl.edu 37 8 25227100 25227100 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 25227100 25227100 A G SNP DOCK5 ENST00000276440 human ensembl 70_37 +1 known missense c.3467 p.D1156G 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC DOCK8 81704 genome.wustl.edu 37 9 414881 414881 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 414881 414881 A C SNP DOCK8 ENST00000453981 human ensembl 70_37 +1 known missense c.3630 p.K1210N 0.981 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC DOCK8 81704 genome.wustl.edu 37 9 465199 465199 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 465199 465199 T G SNP DOCK8 ENST00000462618 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors DOCK8 HGNC DOCK9 23348 genome.wustl.edu 37 13 99446896 99446896 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 99446896 99446896 G A SNP DOCK9 ENST00000339416 human ensembl 70_37 -1 known missense c.6266 p.S2089L 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK9 HGNC DOPEY1 23033 genome.wustl.edu 37 6 83829520 83829520 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 83829520 83829520 C T SNP DOPEY1 ENST00000349129 human ensembl 70_37 +1 known missense c.934 p.P312S 1.000 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC DOPEY2 9980 genome.wustl.edu 37 21 37635876 37635876 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 37635876 37635876 C A SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.5348 p.S1783Y 0.001 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC DOPEY2 9980 genome.wustl.edu 37 21 37665628 37665628 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 37665628 37665628 G A SNP DOPEY2 ENST00000399151 human ensembl 70_37 +1 known missense c.6656 p.S2219N 0.000 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC DPP4 1803 genome.wustl.edu 37 2 162929996 162929996 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 162929996 162929996 T C SNP DPP4 ENST00000360534 human ensembl 70_37 -1 known missense c.7 p.T3A 0.995 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC DPPA3P2 400206 genome.wustl.edu 37 14 36841205 36841205 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 36841205 36841205 C A SNP DPPA3P2 ENST00000557188 human ensembl 70_37 +1 known rna NULL NULL 0.050 - - - no_errors DPPA3P2 HGNC DPRX 503834 genome.wustl.edu 37 19 54137881 54137881 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 54137881 54137881 A C SNP DPRX ENST00000376650 human ensembl 70_37 +1 known missense c.125 p.N42T 0.005 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors DPRX HGNC DPY19L2 283417 genome.wustl.edu 37 12 64061950 64061950 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 64061950 64061950 T G SNP DPY19L2 ENST00000324472 human ensembl 70_37 -1 known missense c.224 p.K75T 0.000 NULL pfam_Dpy-19 - no_errors DPY19L2 HGNC DPYS 1807 genome.wustl.edu 37 8 105456635 105456635 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 105456635 105456635 T C SNP DPYS ENST00000351513 human ensembl 70_37 -1 known missense c.634 p.T212A 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYS HGNC DRP2 1821 genome.wustl.edu 37 X 100510235 100510235 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 100510235 100510235 G T SNP DRP2 ENST00000395209 human ensembl 70_37 +1 known missense c.2243 p.S748I 1.000 pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DRP2 HGNC DSC2 1824 genome.wustl.edu 37 18 28669412 28669412 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 28669412 28669412 T G SNP DSC2 ENST00000280904 human ensembl 70_37 -1 known missense c.620 p.E207A 0.012 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin,prints_Desmo_cadherin - no_errors DSC2 HGNC DSEL 92126 genome.wustl.edu 37 18 65178949 65178949 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 65178949 65178949 G T SNP DSEL ENST00000310045 human ensembl 70_37 -1 known missense c.2927 p.S976Y 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC DSEL 92126 genome.wustl.edu 37 18 65179459 65179459 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 65179459 65179459 G T SNP DSEL ENST00000310045 human ensembl 70_37 -1 known missense c.2417 p.S806Y 1.000 NULL pfam_Sulfotransferase_dom,superfamily_Chondroitin_lyas - no_errors DSEL HGNC DSG1 1828 genome.wustl.edu 37 18 28911707 28911707 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 28911707 28911707 G A SNP DSG1 ENST00000257192 human ensembl 70_37 +1 known silent c.561 p.P187 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_Desmoglein,prints_Cadherin,prints_Desmo_cadherin - no_errors DSG1 HGNC DSG3 1830 genome.wustl.edu 37 18 29040886 29040886 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 29040886 29040886 G T SNP DSG3 ENST00000257189 human ensembl 70_37 +1 known missense c.775 p.D259Y 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin - no_errors DSG3 HGNC DSPP 1834 genome.wustl.edu 37 4 88534422 88534422 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 88534422 88534422 G T SNP DSPP ENST00000282478 human ensembl 70_37 +1 known nonsense c.1084 p.E362* 0.000 NULL NULL - no_errors DSPP HGNC DST 667 genome.wustl.edu 37 6 56366458 56366458 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 56366458 56366458 C A SNP DST ENST00000370754 human ensembl 70_37 -1 known nonsense c.19507 p.E6503* 1.000 pfam_Spectrin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin 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 DST 667 genome.wustl.edu 37 6 56483273 56483273 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 56483273 56483273 G T SNP DST ENST00000370765 human ensembl 70_37 -1 known silent c.5559 p.I1853 0.999 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC DTWD1 56986 genome.wustl.edu 37 15 49917417 49917417 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 49917417 49917417 A C SNP DTWD1 ENST00000251250 human ensembl 70_37 +1 known missense c.53 p.K18T 0.188 NULL pfam_DTW - no_errors DTWD1 HGNC DTX4 23220 genome.wustl.edu 37 11 58962710 58962710 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 58962710 58962710 G T SNP DTX4 ENST00000227451 human ensembl 70_37 +1 known missense c.1404 p.K468N 1.000 pfscan_Znf_RING pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX4 HGNC DUOX1 53905 genome.wustl.edu 37 15 45426095 45426095 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 45426095 45426095 G A SNP DUOX1 ENST00000321429 human ensembl 70_37 +1 known missense c.92 p.R31Q 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC DUSP12 11266 genome.wustl.edu 37 1 161721742 161721742 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 161721742 161721742 A G SNP DUSP12 ENST00000367943 human ensembl 70_37 +1 known missense c.545 p.Y182C 1.000 pirsf_DUSP12 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Znf_C2H2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP12 HGNC DUSP4 1846 genome.wustl.edu 37 8 29194615 29194615 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 29194615 29194615 G A SNP DUSP4 ENST00000240100 human ensembl 70_37 -1 known silent c.1113 p.S371 0.107 pirsf_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP4 HGNC DYNC1H1 1778 genome.wustl.edu 37 14 102477085 102477085 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 102477085 102477085 A G SNP DYNC1H1 ENST00000360184 human ensembl 70_37 +1 known missense c.6414 p.I2138M 0.827 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC DYNC1I1 1780 genome.wustl.edu 37 7 95442584 95442584 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 95442584 95442584 G T SNP DYNC1I1 ENST00000324972 human ensembl 70_37 +1 known silent c.300 p.S100 1.000 NULL pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I1 HGNC DYNC2H1 79659 genome.wustl.edu 37 11 102993571 102993571 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 102993571 102993571 G T SNP DYNC2H1 ENST00000398093 human ensembl 70_37 +1 known missense c.1503 p.K501N 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC DYSF 8291 genome.wustl.edu 37 2 71829914 71829914 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 71829914 71829914 G T SNP DYSF ENST00000413539 human ensembl 70_37 +1 known missense c.3975 p.E1325D 0.000 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors DYSF HGNC DZIP3 9666 genome.wustl.edu 37 3 108355553 108355553 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 108355553 108355553 T G SNP DZIP3 ENST00000361582 human ensembl 70_37 +1 known missense c.1009 p.L337V 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC DZIP3 9666 genome.wustl.edu 37 3 108403096 108403096 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 108403096 108403096 G T SNP DZIP3 ENST00000361582 human ensembl 70_37 +1 known nonsense c.2917 p.E973* 0.941 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC E2F1 1869 genome.wustl.edu 37 20 32264972 32264972 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 32264972 32264972 T C SNP E2F1 ENST00000343380 human ensembl 70_37 -1 known silent c.1005 p.P335 0.562 NULL pfam_E2F_TDP - no_errors E2F1 HGNC E2F6 1876 genome.wustl.edu 37 2 11598468 11598468 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 11598468 11598468 G T SNP E2F6 ENST00000444832 human ensembl 70_37 -1 known missense c.118 p.Q40K 0.000 NULL NULL - no_errors E2F6 HGNC EBF3 253738 genome.wustl.edu 37 10 131646736 131646736 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 131646736 131646736 C A SNP EBF3 ENST00000355311 human ensembl 70_37 -1 known nonsense c.1048 p.E350* 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF3 HGNC ECI2 10455 genome.wustl.edu 37 6 4130835 4130835 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 4130835 4130835 G T SNP ECI2 ENST00000380120 human ensembl 70_37 -1 known missense c.354 p.F118L 0.000 NULL pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ECI2 HGNC ECT2 1894 genome.wustl.edu 37 3 172472404 172472404 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 172472404 172472404 G T SNP ECT2 ENST00000427830 human ensembl 70_37 +1 known missense c.84 p.E28D 0.991 NULL pfam_DH-domain,pfam_BRCT_dom,superfamily_DH-domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DH-domain,pfscan_BRCT_dom,pfscan_DH-domain - no_errors ECT2 HGNC EDAR 10913 genome.wustl.edu 37 2 109529190 109529190 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 109529190 109529190 T G SNP EDAR ENST00000376651 human ensembl 70_37 -1 known missense c.473 p.N158T 0.524 NULL pfam_Death,superfamily_DEATH-like - no_errors EDAR HGNC EFCAB5 374786 genome.wustl.edu 37 17 28320319 28320319 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 28320319 28320319 G T SNP EFCAB5 ENST00000394835 human ensembl 70_37 +1 known nonsense c.904 p.G302* 1.000 NULL pfscan_EF_HAND_2 - no_errors EFCAB5 HGNC MICU3 286097 genome.wustl.edu 37 8 16944530 16944530 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 16944530 16944530 A G SNP EFHA2 ENST00000318063 human ensembl 70_37 +1 known missense c.835 p.K279E 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHA2 HGNC EFHB 151651 genome.wustl.edu 37 3 19925929 19925929 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 19925929 19925929 C A SNP EFHB ENST00000295824 human ensembl 70_37 -1 known missense c.2112 p.E704D 1.000 NULL pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors EFHB HGNC EFTUD2 9343 genome.wustl.edu 37 17 42928702 42928702 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 42928702 42928702 G A SNP EFTUD2 ENST00000426333 human ensembl 70_37 -1 known silent c.2859 p.F953 1.000 NULL pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD2 HGNC EI24 9538 genome.wustl.edu 37 11 125447446 125447446 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 125447446 125447446 C T SNP EI24 ENST00000278903 human ensembl 70_37 +1 known missense c.296 p.S99L 1.000 NULL NULL - no_errors EI24 HGNC EIF3A 8661 genome.wustl.edu 37 10 120810137 120810137 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 120810137 120810137 C T SNP EIF3A ENST00000369144 human ensembl 70_37 -1 known missense c.2369 p.R790Q 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC EIF4G1 1981 genome.wustl.edu 37 3 184043121 184043121 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 184043121 184043121 G A SNP EIF4G1 ENST00000352767 human ensembl 70_37 +1 known missense c.2942 p.R981H 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC EIF4G3 8672 genome.wustl.edu 37 1 21296060 21296060 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 21296060 21296060 A G SNP EIF4G3 ENST00000374937 human ensembl 70_37 -1 known silent c.474 p.G158 1.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G3 HGNC ELAVL2 1993 genome.wustl.edu 37 9 23701536 23701536 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 23701536 23701536 C T SNP ELAVL2 ENST00000359598 human ensembl 70_37 -1 known missense c.638 p.G213D 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL2 HGNC ELF1 1997 genome.wustl.edu 37 13 41508024 41508024 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 41508024 41508024 A C SNP ELF1 ENST00000239882 human ensembl 70_37 -1 known missense c.1397 p.F466C 1.000 NULL pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELF1 HGNC ELF4 2000 genome.wustl.edu 37 X 129200915 129200915 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 129200915 129200915 C T SNP ELF4 ENST00000308167 human ensembl 70_37 -1 known silent c.1773 p.P591 0.652 NULL pfam_TF_Elf_N,pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELF4 HGNC ELOVL4 6785 genome.wustl.edu 37 6 80631439 80631439 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 80631439 80631439 T C SNP ELOVL4 ENST00000369816 human ensembl 70_37 -1 known silent c.444 p.R148 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL4 HGNC EMILIN2 84034 genome.wustl.edu 37 18 2891551 2891551 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 2891551 2891551 C T SNP EMILIN2 ENST00000254528 human ensembl 70_37 +1 known missense c.1426 p.R476W 0.235 NULL pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENOSF1 55556 genome.wustl.edu 37 18 697270 697270 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 697270 697270 C T SNP ENOSF1 ENST00000340116 human ensembl 70_37 -1 known silent c.342 p.R114 1.000 pfam_Mandelate_racemase_N pfam_Mandelate_racemase_C,pfam_Mandelate_racemase_N,smart_Mandelate_racemase_C - no_errors ENOSF1 HGNC ENOX1 55068 genome.wustl.edu 37 13 43934081 43934081 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 43934081 43934081 G A SNP ENOX1 ENST00000261488 human ensembl 70_37 -1 known silent c.495 p.C165 0.930 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENPP2 5168 genome.wustl.edu 37 8 120569809 120569809 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 120569809 120569809 T G SNP ENPP2 ENST00000259486 human ensembl 70_37 -1 known missense c.2700 p.E900D 1.000 NULL pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENPP2 5168 genome.wustl.edu 37 8 120596257 120596257 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 120596257 120596257 C T SNP ENPP2 ENST00000259486 human ensembl 70_37 -1 known missense c.1556 p.G519E 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP2 HGNC ENSG00000166104 0 genome.wustl.edu 37 15 62537946 62537946 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 62537946 62537946 T G SNP ENSG00000166104 ENST00000570077 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-299H22.3 Clone_based_vega_gene ENSG00000167807 0 genome.wustl.edu 37 19 10426678 10426678 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 10426678 10426678 G T SNP ENSG00000167807 ENST00000541276 human ensembl 70_37 -1 known missense c.4 p.H2N 0.938 NULL pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type - no_errors FDX1L Uniprot_genename ENSG00000176515 0 genome.wustl.edu 37 6 1102063 1102063 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 1102063 1102063 A C SNP ENSG00000176515 ENST00000314040 human ensembl 70_37 +1 known missense c.47 p.E16A 0.001 NULL NULL - no_errors AL033381.1 Clone_based_ensembl_gene ENSG00000176584 0 genome.wustl.edu 37 10 124489008 124489008 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 124489008 124489008 T G SNP ENSG00000176584 ENST00000435147 human ensembl 70_37 +1 known rna NULL NULL 0.033 - - - no_errors RP11-107C16.2 Clone_based_vega_gene ENSG00000180909 0 genome.wustl.edu 37 11 6173776 6173776 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 6173776 6173776 A C SNP ENSG00000180909 ENST00000316506 human ensembl 70_37 -1 known missense c.43 p.F15V 0.257 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors AC022762.1 Clone_based_ensembl_gene ENSG00000187812 0 genome.wustl.edu 37 15 76074681 76074681 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 76074681 76074681 G T SNP ENSG00000187812 ENST00000395215 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors RP11-24M17.5 Clone_based_vega_gene ENSG00000188474 0 genome.wustl.edu 37 19 12222913 12222913 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 12222913 12222913 G A SNP ENSG00000188474 ENST00000339302 human ensembl 70_37 +1 known missense c.551 p.R184Q 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF788 Uniprot_genename ENSG00000188474 0 genome.wustl.edu 37 19 12223607 12223607 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 12223607 12223607 G T SNP ENSG00000188474 ENST00000339302 human ensembl 70_37 +1 known missense c.1245 p.E415D 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF788 Uniprot_genename ENSG00000205500 0 genome.wustl.edu 37 2 27235801 27235801 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 27235801 27235801 A C SNP ENSG00000205500 ENST00000380387 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC013472.3 Clone_based_vega_gene ENSG00000205740 0 genome.wustl.edu 37 10 1018611 1018611 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 1018611 1018611 A G SNP ENSG00000205740 ENST00000381466 human ensembl 70_37 -1 known silent c.261 p.H87 0.000 NULL NULL - no_errors AL359878.1 Clone_based_ensembl_gene ENSG00000212084 0 genome.wustl.edu 37 20 55035354 55035354 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 55035354 55035354 C T SNP ENSG00000212084 ENST00000390795 human ensembl 70_37 -1 novel rna NULL NULL 0.004 - - - no_errors AL121914.1 Clone_based_ensembl_gene ENSG00000214581 0 genome.wustl.edu 37 16 34681520 34681520 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 34681520 34681520 C A SNP ENSG00000214581 ENST00000568619 human ensembl 70_37 -1 known rna NULL NULL 0.050 - - - no_errors RP11-80F22.10 Clone_based_vega_gene ENSG00000215452 0 genome.wustl.edu 37 20 45085177 45085177 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 45085177 45085177 G T SNP ENSG00000215452 ENST00000400371 human ensembl 70_37 -1 known rna NULL NULL 0.054 - - - no_errors RP5-981L23.1 Clone_based_vega_gene ENSG00000216125 0 genome.wustl.edu 37 5 83269617 83269617 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 83269617 83269617 A G SNP ENSG00000216125 ENST00000401306 human ensembl 70_37 -1 novel rna NULL NULL 0.007 - - - no_errors AC109496.1 Clone_based_ensembl_gene ENSG00000221301 0 genome.wustl.edu 37 4 4086170 4086170 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 4086170 4086170 C A SNP ENSG00000221301 ENST00000408374 human ensembl 70_37 +1 novel rna NULL NULL 0.030 - - - no_errors AC116562.1 Clone_based_ensembl_gene ENSG00000221559 0 genome.wustl.edu 37 6 114026116 114026117 + RNA INS - - A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 114026116 114026117 - A INS ENSG00000221559 ENST00000408632 human ensembl 70_37 +1 novel rna NULL NULL 0.000:0.000 - - - no_errors AL357519.1 Clone_based_ensembl_gene ENSG00000222602 0 genome.wustl.edu 37 13 37302763 37302763 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 37302763 37302763 G T SNP ENSG00000222602 ENST00000410670 human ensembl 70_37 -1 novel rna NULL NULL 0.047 - - - no_errors AL136160.1 Clone_based_ensembl_gene ENSG00000225488 0 genome.wustl.edu 37 7 56550040 56550040 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 56550040 56550040 G A SNP ENSG00000225488 ENST00000436042 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-760D2.1 Clone_based_vega_gene ENSG00000225782 0 genome.wustl.edu 37 1 220836011 220836011 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 220836011 220836011 T G SNP ENSG00000225782 ENST00000446040 human ensembl 70_37 -1 known rna NULL NULL 0.088 - - - no_errors RP11-322F10.2 Clone_based_vega_gene ENSG00000228368 0 genome.wustl.edu 37 7 116607365 116607365 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 116607365 116607365 A C SNP ENSG00000228368 ENST00000420664 human ensembl 70_37 -1 putative missense c.111 p.I37M 0.002 NULL NULL - no_errors AC106873.4 Clone_based_vega_gene ENSG00000230850 0 genome.wustl.edu 37 1 143232870 143232870 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 143232870 143232870 T G SNP ENSG00000230850 ENST00000438000 human ensembl 70_37 +1 known rna NULL NULL 0.004 - - - no_errors BX571672.1 Clone_based_vega_gene ENSG00000231183 0 genome.wustl.edu 37 7 76532277 76532277 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 76532277 76532277 T G SNP ENSG00000231183 ENST00000472463 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors AC007003.1 Clone_based_vega_gene ENSG00000232018 0 genome.wustl.edu 37 14 101433370 101433370 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 101433370 101433370 A C SNP ENSG00000232018 ENST00000442197 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AL132709.8 Clone_based_vega_gene ENSG00000232274 0 genome.wustl.edu 37 1 143207812 143207812 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 143207812 143207812 G T SNP ENSG00000232274 ENST00000412204 human ensembl 70_37 -1 known rna NULL NULL 0.803 - - - no_errors BX571672.2 Clone_based_vega_gene ENSG00000232336 0 genome.wustl.edu 37 1 143189660 143189660 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 143189660 143189660 C A SNP ENSG00000232336 ENST00000425124 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors BX571672.3 Clone_based_vega_gene ENSG00000233513 0 genome.wustl.edu 37 6 85398365 85398365 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 85398365 85398365 C A SNP ENSG00000233513 ENST00000330469 human ensembl 70_37 -1 putative rna NULL NULL 0.006 - - - no_errors RP11-132M7.1 Clone_based_vega_gene ENSG00000234814 0 genome.wustl.edu 37 10 30986417 30986417 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 30986417 30986417 C T SNP ENSG00000234814 ENST00000435645 human ensembl 70_37 +1 known rna NULL NULL 0.989 - - - no_errors RP11-14C22.4 Clone_based_vega_gene ENSG00000238261 0 genome.wustl.edu 37 1 143391835 143391835 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 143391835 143391835 G T SNP ENSG00000238261 ENST00000412492 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000238261 0 genome.wustl.edu 37 1 143392513 143392513 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 143392513 143392513 G T SNP ENSG00000238261 ENST00000415543 human ensembl 70_37 +1 known rna NULL NULL 0.429 - - - no_errors BX004987.5 Clone_based_vega_gene ENSG00000240401 0 genome.wustl.edu 37 2 55566942 55566942 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 55566942 55566942 G T SNP ENSG00000240401 ENST00000599475 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC012358.8 Clone_based_vega_gene ENSG00000247121 0 genome.wustl.edu 37 5 96271297 96271297 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 96271297 96271297 G A SNP ENSG00000247121 ENST00000501338 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors CTD-2260A17.2 Clone_based_vega_gene ENSG00000249237 0 genome.wustl.edu 37 1 84810492 84810492 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 84810492 84810492 G T SNP ENSG00000249237 ENST00000505585 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-376N17.4 Clone_based_vega_gene ENSG00000249710 0 genome.wustl.edu 37 4 101111198 101111198 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 101111198 101111198 A C SNP ENSG00000249710 ENST00000515782 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors RP11-588P8.1 Clone_based_vega_gene ENSG00000250610 0 genome.wustl.edu 37 4 57898509 57898509 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 57898509 57898509 T C SNP ENSG00000250610 ENST00000514062 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-738E22.2 Clone_based_vega_gene ENSG00000252196 0 genome.wustl.edu 37 6 166355808 166355808 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 166355808 166355808 G A SNP ENSG00000252196 ENST00000516387 human ensembl 70_37 -1 novel rna NULL NULL 0.001 - - - no_errors AL590482.1 Clone_based_ensembl_gene ENSG00000253711 0 genome.wustl.edu 37 8 62212931 62212931 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 62212931 62212931 G A SNP ENSG00000253711 ENST00000518064 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-787D18.1 Clone_based_vega_gene ENSG00000254035 0 genome.wustl.edu 37 5 178396617 178396617 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 178396617 178396617 A C SNP ENSG00000254035 ENST00000519491 human ensembl 70_37 +1 putative rna NULL NULL 0.002 - - - no_errors RP11-281O15.4 Clone_based_vega_gene ENSG00000254553 0 genome.wustl.edu 37 1 32946572 32946572 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 32946572 32946572 C T SNP ENSG00000254553 ENST00000480336 human ensembl 70_37 +1 known missense c.1072 p.R358W 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors RP1-27O5.3 Clone_based_vega_gene ENSG00000254693 0 genome.wustl.edu 37 11 44626589 44626589 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 44626589 44626589 T C SNP ENSG00000254693 ENST00000533814 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-58K22.5 Clone_based_vega_gene ENSG00000254971 0 genome.wustl.edu 37 11 89487150 89487150 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 89487150 89487150 T C SNP ENSG00000254971 ENST00000527332 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-313I2.11 Clone_based_vega_gene ENSG00000255351 0 genome.wustl.edu 37 11 11374294 11374294 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 11374294 11374294 A C SNP ENSG00000255351 ENST00000526867 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-567I13.1 Clone_based_vega_gene ENSG00000257495 0 genome.wustl.edu 37 12 53005146 53005146 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 53005146 53005146 A G SNP ENSG00000257495 ENST00000549180 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-641A6.2 Clone_based_vega_gene ENSG00000258856 0 genome.wustl.edu 37 14 58096891 58096891 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 58096891 58096891 G T SNP ENSG00000258856 ENST00000600311 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CTD-2325K12.1 Clone_based_vega_gene ENSG00000259176 0 genome.wustl.edu 37 15 22413492 22413492 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 22413492 22413492 G T SNP ENSG00000259176 ENST00000559392 human ensembl 70_37 +1 known rna NULL NULL 0.568 - - - no_errors RP11-69H14.6 Clone_based_vega_gene ENSG00000259198 0 genome.wustl.edu 37 15 40605391 40605391 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 40605391 40605391 A C SNP ENSG00000259198 ENST00000559030 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-133K1.6 Clone_based_vega_gene ENSG00000259660 0 genome.wustl.edu 37 15 102313382 102313382 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 102313382 102313382 T G SNP ENSG00000259660 ENST00000561463 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2611K5.6 Clone_based_vega_gene ENSG00000259783 0 genome.wustl.edu 37 15 72900847 72900847 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 72900847 72900847 C A SNP ENSG00000259783 ENST00000565305 human ensembl 70_37 -1 known rna NULL NULL 0.009 - - - no_errors RP11-1006G14.2 Clone_based_vega_gene ENSG00000260078 0 genome.wustl.edu 37 16 53403659 53403659 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 53403659 53403659 G T SNP ENSG00000260078 ENST00000565421 human ensembl 70_37 -1 known rna NULL NULL 0.045 - - - no_errors RP11-44F14.1 Clone_based_vega_gene ENSG00000260091 0 genome.wustl.edu 37 4 120331369 120331369 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 120331369 120331369 A C SNP ENSG00000260091 ENST00000567343 human ensembl 70_37 +1 known rna NULL NULL 0.054 - - - no_errors RP11-33B1.4 Clone_based_vega_gene ENSG00000261448 0 genome.wustl.edu 37 16 17232486 17232486 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 17232486 17232486 G T SNP ENSG00000261448 ENST00000567344 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CTD-2576D5.4 Clone_based_vega_gene ENSG00000262557 0 genome.wustl.edu 37 16 53526459 53526460 + RNA INS - - A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 53526459 53526460 - A INS ENSG00000262557 ENST00000571523 human ensembl 70_37 -1 known rna NULL NULL 0.196:0.340 - - - no_errors RP11-44F14.11 Clone_based_vega_gene ENSG00000262580 0 genome.wustl.edu 37 17 78175388 78175388 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 78175388 78175388 T C SNP ENSG00000262580 ENST00000570309 human ensembl 70_37 -1 known rna NULL NULL 0.238 - - - no_errors RP11-334C17.5 Clone_based_vega_gene ENSG00000263606 0 genome.wustl.edu 37 18 2945673 2945673 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 2945673 2945673 C T SNP ENSG00000263606 ENST00000581139 human ensembl 70_37 -1 known rna NULL NULL 0.295 - - - no_errors RP11-737O24.3 Clone_based_vega_gene ENSG00000263826 0 genome.wustl.edu 37 3 186501340 186501340 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 186501340 186501340 A C SNP ENSG00000263826 ENST00000577781 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-573D15.9 Clone_based_vega_gene ENSG00000264184 0 genome.wustl.edu 37 X 24304668 24304668 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 24304668 24304668 G T SNP ENSG00000264184 ENST00000577723 human ensembl 70_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC096509.1 Clone_based_ensembl_gene ENSG00000264215 0 genome.wustl.edu 37 17 20692783 20692783 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 20692783 20692783 T G SNP ENSG00000264215 ENST00000578585 human ensembl 70_37 +1 known rna NULL NULL 0.019 - - - no_errors RP11-283C24.1 Clone_based_vega_gene ENSG00000264446 0 genome.wustl.edu 37 12 34180241 34180241 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 34180241 34180241 T G SNP ENSG00000264446 ENST00000401300 human ensembl 70_37 -1 novel rna NULL NULL 0.036 - - - no_errors AC046130.1 Clone_based_ensembl_gene ENSG00000266302 0 genome.wustl.edu 37 17 16676937 16676937 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 16676937 16676937 A G SNP ENSG00000266302 ENST00000448331 human ensembl 70_37 +1 known missense c.4268 p.Y1423C 0.297 NULL pfam_DUF3496 - no_errors CCDC144A Uniprot_genename ENSG00000268467 0 genome.wustl.edu 37 11 107463118 107463118 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 107463118 107463118 A C SNP ENSG00000268467 ENST00000600612 human ensembl 70_37 +1 known missense c.316 p.N106H 0.006 NULL NULL - no_errors AP000889.3 Clone_based_ensembl_gene ENSG00000268739 0 genome.wustl.edu 37 19 51517985 51517985 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 51517985 51517985 A G SNP ENSG00000268739 ENST00000596286 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors CTC-518B2.12 Clone_based_vega_gene ENTPD3 956 genome.wustl.edu 37 3 40456324 40456324 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 40456324 40456324 T G SNP ENTPD3 ENST00000301825 human ensembl 70_37 +1 known missense c.590 p.F197C 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD3 HGNC EP300 2033 genome.wustl.edu 37 22 41527552 41527552 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 41527552 41527552 G A SNP EP300 ENST00000263253 human ensembl 70_37 +1 known silent c.1443 p.P481 0.124 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC EP400 57634 genome.wustl.edu 37 12 132466942 132466942 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 132466942 132466942 G A SNP EP400 ENST00000333577 human ensembl 70_37 +1 known silent c.1956 p.S652 0.003 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC EPB41L1 2036 genome.wustl.edu 37 20 34810275 34810275 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 34810275 34810275 G T SNP EPB41L1 ENST00000338074 human ensembl 70_37 +1 known nonsense c.2596 p.E866* 1.000 pfam_Band_4.1_C,pirsf_Band_41_protein pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L1 HGNC EPHA6 285220 genome.wustl.edu 37 3 97202827 97202827 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 97202827 97202827 C T SNP EPHA6 ENST00000389672 human ensembl 70_37 +1 known silent c.2124 p.D708 1.000 superfamily_Kinase-like_dom 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_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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHA6 HGNC EPPIN 57119 genome.wustl.edu 37 20 44175982 44175982 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 44175982 44175982 T C SNP EPPIN ENST00000555685 human ensembl 70_37 -1 known silent c.15 p.G5 0.008 NULL pfam_Prot_inh_Kunz-m,pfam_Whey_acidic_protein_4-diS_core,superfamily_Prot_inh_Kunz-m,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors EPPIN HGNC EPS8L3 79574 genome.wustl.edu 37 1 110295775 110295775 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 110295775 110295775 G T SNP EPS8L3 ENST00000369805 human ensembl 70_37 -1 known missense c.1167 p.F389L 0.733 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC EPYC 1833 genome.wustl.edu 37 12 91366698 91366698 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 91366698 91366698 C A SNP EPYC ENST00000261172 human ensembl 70_37 -1 known nonsense c.400 p.E134* 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors EPYC HGNC ERBB4 2066 genome.wustl.edu 37 2 212495258 212495258 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 212495258 212495258 T C SNP ERBB4 ENST00000342788 human ensembl 70_37 -1 known missense c.2008 p.T670A 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ERBB4 HGNC ERCC5 2073 genome.wustl.edu 37 13 103515335 103515335 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 103515335 103515335 G T SNP ERCC5 ENST00000355739 human ensembl 70_37 +1 known missense c.1836 p.E612D 0.004 tigrfam_XPGC_DNA_repair pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_DNA_repair,prints_XPGC_Rad_DNA_repair,tigrfam_XPGC_DNA_repair - no_errors ERCC5 HGNC ERCC6 2074 genome.wustl.edu 37 10 50732662 50732662 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 50732662 50732662 C T SNP ERCC6 ENST00000355832 human ensembl 70_37 -1 known missense c.814 p.E272K 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ERCC6L 54821 genome.wustl.edu 37 X 71426082 71426082 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 71426082 71426082 T G SNP ERCC6L ENST00000334463 human ensembl 70_37 -1 known missense c.2535 p.K845N 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ERCC6L 54821 genome.wustl.edu 37 X 71427103 71427103 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 71427103 71427103 C T SNP ERCC6L ENST00000334463 human ensembl 70_37 -1 known missense c.1514 p.R505Q 0.989 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ERG 2078 genome.wustl.edu 37 21 39772513 39772513 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 39772513 39772513 C A SNP ERG ENST00000398919 human ensembl 70_37 -1 known missense c.749 p.R250I 1.000 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors ERG HGNC ERGIC1 57222 genome.wustl.edu 37 5 172359474 172359474 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 172359474 172359474 C T SNP ERGIC1 ENST00000393784 human ensembl 70_37 +1 known missense c.577 p.P193S 1.000 pfam_DUF1692 pfam_DUF1692 - no_errors ERGIC1 HGNC ERRFI1 54206 genome.wustl.edu 37 1 8073301 8073301 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 8073301 8073301 C T SNP ERRFI1 ENST00000377482 human ensembl 70_37 -1 known missense c.1358 p.R453H 0.999 NULL pfam_GTPase_binding,pfam_Inhibitor_Mig-6 - no_errors ERRFI1 HGNC ERVV-1 147664 genome.wustl.edu 37 19 53517721 53517721 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 53517721 53517721 T C SNP ERVV-1 ENST00000602168 human ensembl 70_37 +1 known silent c.378 p.C126 0.038 NULL pfam_TLV/ENV_coat_polyprotein - no_errors ERVV-1 HGNC ESCO2 157570 genome.wustl.edu 37 8 27633950 27633950 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 27633950 27633950 A C SNP ESCO2 ENST00000305188 human ensembl 70_37 +1 known missense c.125 p.K42T 0.344 NULL NULL - no_errors ESCO2 HGNC EVC2 132884 genome.wustl.edu 37 4 5633691 5633691 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 5633691 5633691 A C SNP EVC2 ENST00000509670 human ensembl 70_37 -1 known missense c.1291 p.S431A 0.000 NULL pfam_Limbin - no_errors EVC2 HGNC EXOC4 60412 genome.wustl.edu 37 7 133692523 133692523 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 133692523 133692523 T G SNP EXOC4 ENST00000253861 human ensembl 70_37 +1 known missense c.2622 p.I874M 0.988 NULL pfam_Sec8_exocyst - no_errors EXOC4 HGNC EYA1 2138 genome.wustl.edu 37 8 72123465 72123465 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 72123465 72123465 T G SNP EYA1 ENST00000340726 human ensembl 70_37 -1 known missense c.1624 p.I542L 1.000 pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC EYA3 2140 genome.wustl.edu 37 1 28362124 28362124 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 28362124 28362124 T G SNP EYA3 ENST00000373871 human ensembl 70_37 -1 known missense c.292 p.T98P 1.000 NULL pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA3 HGNC EYS 346007 genome.wustl.edu 37 6 65301416 65301416 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 65301416 65301416 G A SNP EYS ENST00000370616 human ensembl 70_37 -1 known silent c.4344 p.F1448 0.468 NULL pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors EYS HGNC EZR 7430 genome.wustl.edu 37 6 159190421 159190421 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 159190421 159190421 C A SNP EZR ENST00000337147 human ensembl 70_37 -1 known missense c.1281 p.K427N 1.000 pirsf_ERM,pfam_ERM_C pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam - no_errors EZR HGNC F13A1 2162 genome.wustl.edu 37 6 6174837 6174837 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 6174837 6174837 C T SNP F13A1 ENST00000264870 human ensembl 70_37 -1 known missense c.1723 p.D575N 0.000 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC F13B 2165 genome.wustl.edu 37 1 197031009 197031009 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 197031009 197031009 G A SNP F13B ENST00000367412 human ensembl 70_37 -1 known missense c.356 p.A119V 0.001 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC F5 2153 genome.wustl.edu 37 1 169484809 169484809 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 169484809 169484809 G A SNP F5 ENST00000367796 human ensembl 70_37 -1 known missense c.6416 p.T2139M 0.999 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,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC F5 2153 genome.wustl.edu 37 1 169511810 169511810 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 169511810 169511810 G T SNP F5 ENST00000367796 human ensembl 70_37 -1 known missense c.2533 p.L845I 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC F5 2153 genome.wustl.edu 37 1 169512260 169512260 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 169512260 169512260 C A SNP F5 ENST00000367796 human ensembl 70_37 -1 known nonsense c.2083 p.E695* 0.213 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC F8 2157 genome.wustl.edu 37 X 154156997 154156997 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 154156997 154156997 C A SNP F8 ENST00000360256 human ensembl 70_37 -1 known nonsense c.5068 p.E1690* 0.807 NULL 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 FABP4 2167 genome.wustl.edu 37 8 82395402 82395402 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 82395402 82395402 T C SNP FABP4 ENST00000256104 human ensembl 70_37 -1 known missense c.1 p.M1V 1.000 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP4 HGNC FADS6 283985 genome.wustl.edu 37 17 72889601 72889601 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 72889601 72889601 C A SNP FADS6 ENST00000310226 human ensembl 70_37 -1 known missense c.93 p.E31D 0.869 NULL pfam_Fatty_acid_desaturase-1 - no_errors FADS6 HGNC FAH 2184 genome.wustl.edu 37 15 80452212 80452212 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 80452212 80452212 C T SNP FAH ENST00000261755 human ensembl 70_37 +1 known missense c.307 p.R103W 0.998 pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase pfam_Fumarylacetoacetase_C,pfam_Fumarylacetoacetase_N,superfamily_Fumarylacetoacetase_C-rel,superfamily_Fumarylacetoacetase_N,tigrfam_Fumarylacetoacetase - no_errors FAH HGNC FAM105A 54491 genome.wustl.edu 37 5 14602325 14602325 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 14602325 14602325 A G SNP FAM105A ENST00000274217 human ensembl 70_37 +1 known missense c.382 p.K128E 0.997 NULL prints_FAM105,prints_FAM105A - no_errors FAM105A HGNC AMER1 139285 genome.wustl.edu 37 X 63412951 63412951 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 63412951 63412951 G T SNP FAM123B ENST00000330258 human ensembl 70_37 -1 known missense c.216 p.F72L 0.997 NULL pfam_Uncharacterised_FAM123 - no_errors FAM123B HGNC FAM131A 131408 genome.wustl.edu 37 3 184055357 184055357 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 184055357 184055357 G T SNP FAM131A ENST00000497070 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors FAM131A HGNC FAM133A 286499 genome.wustl.edu 37 X 92964553 92964553 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 92964553 92964553 G T SNP FAM133A ENST00000322139 human ensembl 70_37 +1 known missense c.135 p.K45N 1.000 NULL NULL - no_errors FAM133A HGNC FAM135B 51059 genome.wustl.edu 37 8 139163664 139163664 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 139163664 139163664 C T SNP FAM135B ENST00000395297 human ensembl 70_37 -1 known silent c.3054 p.E1018 0.681 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC FAM135B 51059 genome.wustl.edu 37 8 139380195 139380195 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 139380195 139380195 G A SNP FAM135B ENST00000395297 human ensembl 70_37 -1 known missense c.32 p.S11L 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC FAM157C 100996541 genome.wustl.edu 37 16 90244211 90244211 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 90244211 90244211 A C SNP FAM157C ENST00000570230 human ensembl 70_37 +1 known rna NULL NULL 0.970 - - - no_errors FAM157C HGNC FAM193B 54540 genome.wustl.edu 37 5 176959530 176959530 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 176959530 176959530 G A SNP FAM193B ENST00000443375 human ensembl 70_37 -1 known nonsense c.850 p.R284* 1.000 NULL NULL - no_errors FAM193B HGNC FAM19A1 407738 genome.wustl.edu 37 3 68466528 68466528 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 68466528 68466528 A G SNP FAM19A1 ENST00000478136 human ensembl 70_37 +1 known missense c.217 p.K73E 1.000 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A1 HGNC FAM205A 259308 genome.wustl.edu 37 9 34726806 34726806 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 34726806 34726806 G A SNP FAM205A ENST00000378788 human ensembl 70_37 -1 novel missense c.431 p.T144M 0.000 NULL NULL - no_errors FAM205A HGNC FAM208B 54906 genome.wustl.edu 37 10 5768852 5768852 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 5768852 5768852 T G SNP FAM208B ENST00000328090 human ensembl 70_37 +1 known missense c.356 p.I119S 1.000 pfam_DUF3699 pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC FAM214A 56204 genome.wustl.edu 37 15 52902315 52902315 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 52902315 52902315 G A SNP FAM214A ENST00000261844 human ensembl 70_37 -1 known missense c.796 p.R266C 1.000 NULL NULL - no_errors FAM214A HGNC FAM221B 392307 genome.wustl.edu 37 9 35821622 35821622 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 35821622 35821622 C A SNP FAM221B ENST00000388950 human ensembl 70_37 -1 known missense c.746 p.R249I 0.002 NULL NULL - no_errors FAM221B HGNC FAM228B 375190 genome.wustl.edu 37 2 24369682 24369682 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 24369682 24369682 G T SNP FAM228B ENST00000420135 human ensembl 70_37 +1 known missense c.506 p.R169I 1.000 NULL NULL - no_errors FAM228B HGNC NUTM2B 729262 genome.wustl.edu 37 10 81465963 81465963 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 81465963 81465963 G T SNP FAM22B ENST00000429828 human ensembl 70_37 +1 known missense c.548 p.S183I 0.001 NULL NULL - no_errors FAM22B HGNC FAM26E 254228 genome.wustl.edu 37 6 116832890 116832890 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 116832890 116832890 T G SNP FAM26E ENST00000368599 human ensembl 70_37 +1 known missense c.31 p.F11V 0.942 NULL NULL - no_errors FAM26E HGNC FAM35A 54537 genome.wustl.edu 37 10 88911902 88911902 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 88911902 88911902 C A SNP FAM35A ENST00000298786 human ensembl 70_37 +1 known missense c.791 p.P264H 0.000 NULL NULL - no_errors FAM35A HGNC FAM45B 55855 genome.wustl.edu 37 X 129630139 129630139 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 129630139 129630139 G A SNP FAM45B ENST00000592932 human ensembl 70_37 +1 known rna NULL NULL 0.256 - - - no_errors FAM45B HGNC FAM50A 9130 genome.wustl.edu 37 X 153678638 153678638 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 153678638 153678638 G A SNP FAM50A ENST00000393600 human ensembl 70_37 +1 known missense c.982 p.D328N 0.994 pfam_XAP5 pfam_XAP5 - no_errors FAM50A HGNC FAM83B 222584 genome.wustl.edu 37 6 54804695 54804695 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 54804695 54804695 C T SNP FAM83B ENST00000306858 human ensembl 70_37 +1 known missense c.926 p.S309L 0.045 NULL pfam_DUF1669 - no_errors FAM83B HGNC FAM86JP 100125556 genome.wustl.edu 37 3 125647651 125647651 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 125647651 125647651 A C SNP FAM86JP ENST00000467239 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors FAM86JP HGNC FAN1 22909 genome.wustl.edu 37 15 31197563 31197563 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 31197563 31197563 G T SNP FAN1 ENST00000362065 human ensembl 70_37 +1 known nonsense c.697 p.G233* 0.000 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC FASTKD1 79675 genome.wustl.edu 37 2 170411698 170411698 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 170411698 170411698 C A SNP FASTKD1 ENST00000453153 human ensembl 70_37 -1 known nonsense c.1150 p.E384* 0.391 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC FASTKD3 79072 genome.wustl.edu 37 5 7867647 7867647 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 7867647 7867647 C T SNP FASTKD3 ENST00000264669 human ensembl 70_37 -1 known missense c.550 p.A184T 0.993 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD3 HGNC FAT2 2196 genome.wustl.edu 37 5 150923212 150923212 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 150923212 150923212 C T SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known silent c.7476 p.E2492 0.996 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC FAT3 120114 genome.wustl.edu 37 11 92539659 92539659 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 92539659 92539659 A C SNP FAT3 ENST00000298047 human ensembl 70_37 +1 known missense c.9225 p.E3075D 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC FAT4 79633 genome.wustl.edu 37 4 126373266 126373266 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 126373266 126373266 G A SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known missense c.11095 p.V3699I 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC FAT4 79633 genome.wustl.edu 37 4 126373322 126373322 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 126373322 126373322 C T SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known silent c.11151 p.L3717 0.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC FAT4 79633 genome.wustl.edu 37 4 126408558 126408558 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 126408558 126408558 G A SNP FAT4 ENST00000394329 human ensembl 70_37 +1 known missense c.12875 p.R4292K 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC FBXO34 55030 genome.wustl.edu 37 14 55817284 55817284 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 55817284 55817284 G A SNP FBXO34 ENST00000313833 human ensembl 70_37 +1 known missense c.176 p.R59Q 0.779 NULL superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO34 HGNC FBXO34 55030 genome.wustl.edu 37 14 55817886 55817886 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 55817886 55817886 G T SNP FBXO34 ENST00000313833 human ensembl 70_37 +1 known nonsense c.778 p.E260* 0.797 NULL superfamily_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO34 HGNC FBXO39 162517 genome.wustl.edu 37 17 6684086 6684086 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 6684086 6684086 G A SNP FBXO39 ENST00000321535 human ensembl 70_37 +1 known missense c.899 p.R300Q 1.000 NULL NULL - no_errors FBXO39 HGNC FBXO45 200933 genome.wustl.edu 37 3 196311048 196311048 + Silent SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 196311048 196311048 T A SNP FBXO45 ENST00000311630 human ensembl 70_37 +1 known silent c.720 p.T240 0.998 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_F-box_dom_cyclin-like,superfamily_ConA-like_lec_gl_sf,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_F-box_dom_cyclin-like - no_errors FBXO45 HGNC FBXO46 23403 genome.wustl.edu 37 19 46216665 46216665 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 46216665 46216665 G A SNP FBXO46 ENST00000317683 human ensembl 70_37 -1 known missense c.89 p.A30V 0.000 NULL superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like - no_errors FBXO46 HGNC FBXO5 26271 genome.wustl.edu 37 6 153293413 153293413 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 153293413 153293413 G T SNP FBXO5 ENST00000229758 human ensembl 70_37 -1 known missense c.1086 p.F362L 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like - no_errors FBXO5 HGNC FBXO5 26271 genome.wustl.edu 37 6 153296192 153296192 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 153296192 153296192 A C SNP FBXO5 ENST00000229758 human ensembl 70_37 -1 known missense c.668 p.I223S 0.031 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like - no_errors FBXO5 HGNC FBXW11 23291 genome.wustl.edu 37 5 171305107 171305107 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 171305107 171305107 A C SNP FBXW11 ENST00000265094 human ensembl 70_37 -1 known missense c.816 p.C272W 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW11 HGNC FCGBP 8857 genome.wustl.edu 37 19 40433110 40433110 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 40433110 40433110 G T SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known missense c.1159 p.P387T 0.798 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC FCGR2A 2212 genome.wustl.edu 37 1 161487972 161487972 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 161487972 161487972 G T SNP FCGR2A ENST00000471026 human ensembl 70_37 +1 known rna NULL NULL 0.162 - - - no_errors FCGR2A HGNC FCHSD1 89848 genome.wustl.edu 37 5 141021033 141021033 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 141021033 141021033 A C SNP FCHSD1 ENST00000518160 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FCHSD1 HGNC FCHSD1 89848 genome.wustl.edu 37 5 141024239 141024239 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 141024239 141024239 C T SNP FCHSD1 ENST00000435817 human ensembl 70_37 -1 known missense c.1543 p.E515K 0.965 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_FCH,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors FCHSD1 HGNC FEM1B 10116 genome.wustl.edu 37 15 68583077 68583077 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 68583077 68583077 G A SNP FEM1B ENST00000306917 human ensembl 70_37 +1 known missense c.1381 p.E461K 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 FEM1B HGNC FER 2241 genome.wustl.edu 37 5 108281858 108281858 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 108281858 108281858 G T SNP FER ENST00000281092 human ensembl 70_37 +1 known nonsense c.1264 p.E422* 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 FERD3L 222894 genome.wustl.edu 37 7 19184566 19184566 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 19184566 19184566 G A SNP FERD3L ENST00000275461 human ensembl 70_37 -1 known silent c.420 p.I140 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors FERD3L HGNC FERMT2 10979 genome.wustl.edu 37 14 53341944 53341944 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 53341944 53341944 A C SNP FERMT2 ENST00000343279 human ensembl 70_37 -1 known missense c.1095 p.I365M 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT2 HGNC FES 2242 genome.wustl.edu 37 15 91428562 91428562 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 91428562 91428562 G A SNP FES ENST00000470152 human ensembl 70_37 +1 known missense c.287 p.G96D 0.001 NULL pfam_FCH,smart_FCH,pfscan_FCH - no_errors FES HGNC FHAD1 114827 genome.wustl.edu 37 1 15687066 15687066 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 15687066 15687066 G T SNP FHAD1 ENST00000375999 human ensembl 70_37 +1 known missense c.2763 p.E921D 0.007 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors FHAD1 HGNC FHOD1 29109 genome.wustl.edu 37 16 67268080 67268080 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 67268080 67268080 C T SNP FHOD1 ENST00000258201 human ensembl 70_37 -1 known missense c.1526 p.R509Q 0.001 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD1 HGNC FILIP1L 11259 genome.wustl.edu 37 3 99567248 99567248 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 99567248 99567248 C T SNP FILIP1L ENST00000354552 human ensembl 70_37 -1 known missense c.3272 p.R1091Q 1.000 NULL pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC FKBP15 23307 genome.wustl.edu 37 9 115950806 115950806 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 115950806 115950806 C T SNP FKBP15 ENST00000489645 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors FKBP15 HGNC FKBP1A 2280 genome.wustl.edu 37 20 1350326 1350326 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 1350326 1350326 A C SNP FKBP1A ENST00000460490 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors FKBP1A HGNC FLG2 388698 genome.wustl.edu 37 1 152326402 152326402 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 152326402 152326402 C T SNP FLG2 ENST00000388718 human ensembl 70_37 -1 known missense c.3860 p.R1287K 0.003 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC FLG2 388698 genome.wustl.edu 37 1 152328935 152328935 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 152328935 152328935 C T SNP FLG2 ENST00000388718 human ensembl 70_37 -1 known missense c.1327 p.E443K 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC FLJ35946 0 genome.wustl.edu 37 5 98106447 98106447 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 98106447 98106447 C A SNP FLJ35946 ENST00000498871 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors CTC-463N11.3 Clone_based_vega_gene FLJ36000 284124 genome.wustl.edu 37 17 21911084 21911084 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 21911084 21911084 C T SNP FLJ36000 ENST00000581223 human ensembl 70_37 +1 known rna NULL NULL 0.145 - - - no_errors RP11-744K17.9 Clone_based_vega_gene FLJ40448 0 genome.wustl.edu 37 16 88809355 88809355 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 88809355 88809355 G T SNP FLJ40448 ENST00000333666 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP5-1142A6.8 Clone_based_vega_gene LINC00951 401260 genome.wustl.edu 37 6 40312275 40312275 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 40312275 40312275 G A SNP FLJ41649 ENST00000373171 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-552E20.3 Clone_based_vega_gene LINC00982 440556 genome.wustl.edu 37 1 2979414 2979414 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 2979414 2979414 C A SNP FLJ42875 ENST00000321399 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP1-163G9.1 Clone_based_vega_gene FLJ45256 0 genome.wustl.edu 37 16 24675235 24675235 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 24675235 24675235 C T SNP FLJ45256 ENST00000414816 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AC012317.1 Clone_based_vega_gene FLNA 2316 genome.wustl.edu 37 X 153580009 153580009 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 153580009 153580009 G A SNP FLNA ENST00000369850 human ensembl 70_37 -1 known silent c.6963 p.F2321 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like 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 FLRT2 23768 genome.wustl.edu 37 14 86092305 86092305 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 86092305 86092305 G T SNP FLRT2 ENST00000553650 human ensembl 70_37 +1 putative rna NULL NULL 0.027 - - - no_errors FLRT2 HGNC FLT4 2324 genome.wustl.edu 37 5 180056320 180056320 + Nonsense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 180056320 180056320 A C SNP FLT4 ENST00000261937 human ensembl 70_37 -1 known nonsense c.924 p.Y308* 0.044 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC FMN1 342184 genome.wustl.edu 37 15 33445566 33445566 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 33445566 33445566 G A SNP FMN1 ENST00000320930 human ensembl 70_37 -1 known missense c.1550 p.T517M 0.007 NULL NULL - no_errors FMN1 HGNC FMO5 2330 genome.wustl.edu 37 1 146680530 146680530 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 146680530 146680530 A G SNP FMO5 ENST00000254090 human ensembl 70_37 -1 known silent c.714 p.S238 0.013 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_5 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC FMR1 2332 genome.wustl.edu 37 X 147027159 147027159 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 147027159 147027159 C A SNP FMR1 ENST00000478848 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors FMR1 HGNC FN1 2335 genome.wustl.edu 37 2 216235148 216235148 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 216235148 216235148 A G SNP FN1 ENST00000354785 human ensembl 70_37 -1 known missense c.6722 p.V2241A 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC FOCAD 54914 genome.wustl.edu 37 9 20740313 20740313 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 20740313 20740313 G T SNP FOCAD ENST00000338382 human ensembl 70_37 +1 known missense c.366 p.K122N 0.444 pfam_DUF3730,superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC FOLH1B 219595 genome.wustl.edu 37 11 89392702 89392702 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 89392702 89392702 C A SNP FOLH1B ENST00000525540 human ensembl 70_37 +1 known rna NULL NULL 0.338 - - - no_errors FOLH1B HGNC FOXJ2 55810 genome.wustl.edu 37 12 8192701 8192701 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 8192701 8192701 G T SNP FOXJ2 ENST00000162391 human ensembl 70_37 +1 known missense c.273 p.E91D 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ2 HGNC FOXQ1 94234 genome.wustl.edu 37 6 1313312 1313312 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 1313312 1313312 A C SNP FOXQ1 ENST00000296839 human ensembl 70_37 +1 known missense c.373 p.I125L 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXQ1 HGNC FRAT1 10023 genome.wustl.edu 37 10 99080045 99080045 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 99080045 99080045 A C SNP FRAT1 ENST00000371021 human ensembl 70_37 +1 known missense c.835 p.S279R 0.999 NULL pfam_GSK3-bd - no_errors FRAT1 HGNC FREM2 341640 genome.wustl.edu 37 13 39264464 39264464 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 39264464 39264464 T G SNP FREM2 ENST00000280481 human ensembl 70_37 +1 known missense c.2983 p.L995V 0.997 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC FRK 2444 genome.wustl.edu 37 6 116263652 116263652 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 116263652 116263652 C A SNP FRK ENST00000368626 human ensembl 70_37 -1 known missense c.1443 p.E481D 0.998 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FRK HGNC FRK 2444 genome.wustl.edu 37 6 116325055 116325055 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 116325055 116325055 C A SNP FRK ENST00000368626 human ensembl 70_37 -1 known nonsense c.451 p.E151* 0.976 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors FRK HGNC FRMD4A 55691 genome.wustl.edu 37 10 13852888 13852888 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 13852888 13852888 C T SNP FRMD4A ENST00000357447 human ensembl 70_37 -1 known silent c.132 p.E44 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC FRMPD3 84443 genome.wustl.edu 37 X 106840934 106840934 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 106840934 106840934 A C SNP FRMPD3 ENST00000276185 human ensembl 70_37 +1 known missense c.1924 p.N642H 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC FRZB 2487 genome.wustl.edu 37 2 183699692 183699692 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 183699692 183699692 G A SNP FRZB ENST00000295113 human ensembl 70_37 -1 known missense c.862 p.R288C 1.000 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors FRZB HGNC FSHR 2492 genome.wustl.edu 37 2 49210085 49210085 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 49210085 49210085 C A SNP FSHR ENST00000406846 human ensembl 70_37 -1 known missense c.634 p.D212Y 1.000 pfam_Leu-rich_rpt,prints_TSH_rcpt pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors FSHR HGNC FSIP2 401024 genome.wustl.edu 37 2 186669523 186669523 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 186669523 186669523 G T SNP FSIP2 ENST00000343098 human ensembl 70_37 +1 known nonsense c.15757 p.E5253* 0.998 NULL NULL - no_errors FSIP2 HGNC FTL 2512 genome.wustl.edu 37 19 49468795 49468795 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 49468795 49468795 A G SNP FTL ENST00000331825 human ensembl 70_37 +1 known missense c.31 p.T11A 0.985 superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron pfam_Ferritin_DPS_dom,superfamily_Ferritin/RNR-like,pfscan_Ferritin-like_diiron - no_errors FTL HGNC CMTR1 23070 genome.wustl.edu 37 6 37426574 37426574 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 37426574 37426574 G A SNP FTSJD2 ENST00000373451 human ensembl 70_37 +1 known missense c.964 p.E322K 1.000 pfam_rRNA_MeTrfase_FtsJ_dom pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_Rsp5_WWP,pfscan_G_patch_dom - no_errors FTSJD2 HGNC CMTR1 23070 genome.wustl.edu 37 6 37443917 37443917 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 37443917 37443917 G T SNP FTSJD2 ENST00000373451 human ensembl 70_37 +1 known missense c.2052 p.E684D 1.000 NULL pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_Rsp5_WWP,pfscan_G_patch_dom - no_errors FTSJD2 HGNC FUBP1 8880 genome.wustl.edu 37 1 78428511 78428511 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 78428511 78428511 G A SNP FUBP1 ENST00000436586 human ensembl 70_37 -1 known missense c.1351 p.R451C 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP1 HGNC FUT1 2523 genome.wustl.edu 37 19 49254472 49254472 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 49254472 49254472 A C SNP FUT1 ENST00000310160 human ensembl 70_37 -1 known missense c.67 p.F23V 0.006 NULL pfam_Glyco_trans_11 - no_errors FUT1 HGNC FUT8 2530 genome.wustl.edu 37 14 66208817 66208817 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 66208817 66208817 C T SNP FUT8 ENST00000360689 human ensembl 70_37 +1 known nonsense c.1417 p.R473* 1.000 pirsf_Alpha1_6FUT_euk superfamily_SH3_domain,smart_SH3_domain,pirsf_Alpha1_6FUT_euk - no_errors FUT8 HGNC FZD6 8323 genome.wustl.edu 37 8 104337581 104337581 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 104337581 104337581 G A SNP FZD6 ENST00000358755 human ensembl 70_37 +1 known missense c.1247 p.R416Q 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD6 HGNC G6PC2 57818 genome.wustl.edu 37 2 169764214 169764214 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 169764214 169764214 C A SNP G6PC2 ENST00000375363 human ensembl 70_37 +1 known missense c.693 p.D231E 0.998 pirsf_Glucose-6-phosphatase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase - no_errors G6PC2 HGNC GAA 2548 genome.wustl.edu 37 17 78078694 78078694 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 78078694 78078694 C T SNP GAA ENST00000302262 human ensembl 70_37 +1 known silent c.309 p.C103 0.985 pfam_P_trefoil,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors GAA HGNC GABBR1 2550 genome.wustl.edu 37 6 29589055 29589055 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 29589055 29589055 A G SNP GABBR1 ENST00000377034 human ensembl 70_37 -1 known silent c.1146 p.R382 0.996 pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC GABRA4 2557 genome.wustl.edu 37 4 46973127 46973127 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 46973127 46973127 C A SNP GABRA4 ENST00000264318 human ensembl 70_37 -1 known nonsense c.847 p.E283* 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC GABRB3 2562 genome.wustl.edu 37 15 26812812 26812812 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 26812812 26812812 A C SNP GABRB3 ENST00000299267 human ensembl 70_37 -1 known missense c.751 p.Y251D 0.999 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC GABRD 2563 genome.wustl.edu 37 1 1956825 1956825 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 1956825 1956825 C A SNP GABRD ENST00000378585 human ensembl 70_37 +1 known silent c.234 p.I78 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAd_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRD HGNC GABRG3 2567 genome.wustl.edu 37 15 27572007 27572007 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 27572007 27572007 C T SNP GABRG3 ENST00000333743 human ensembl 70_37 +1 known nonsense c.322 p.R108* 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC GABRR1 2569 genome.wustl.edu 37 6 89888707 89888707 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 89888707 89888707 C A SNP GABRR1 ENST00000454853 human ensembl 70_37 -1 known missense c.1222 p.D408Y 1.000 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_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel - no_errors GABRR1 HGNC GALNT3 2591 genome.wustl.edu 37 2 166621549 166621549 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 166621549 166621549 A C SNP GALNT3 ENST00000392701 human ensembl 70_37 -1 known missense c.533 p.F178C 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT3 HGNC GALNTL6 442117 genome.wustl.edu 37 4 173150836 173150836 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 173150836 173150836 A G SNP GALNTL6 ENST00000506823 human ensembl 70_37 +1 known silent c.168 p.Q56 1.000 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNTL6 HGNC GALR2 8811 genome.wustl.edu 37 17 74073164 74073164 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 74073164 74073164 G A SNP GALR2 ENST00000329003 human ensembl 70_37 +1 known silent c.816 p.A272 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Galanin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_Galnin_2_rcpt - no_errors GALR2 HGNC GATA1 2623 genome.wustl.edu 37 X 48649666 48649666 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 48649666 48649666 G A SNP GATA1 ENST00000376670 human ensembl 70_37 +1 known silent c.150 p.P50 0.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA1 HGNC GATC 283459 genome.wustl.edu 37 12 120894916 120894916 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 120894916 120894916 A G SNP GATC ENST00000551765 human ensembl 70_37 +1 known missense c.292 p.N98D 1.000 pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu pfam_Asp/Glu-ADT_csu,tigrfam_Asp/Glu-ADT_csu - no_errors GATC HGNC GBF1 8729 genome.wustl.edu 37 10 104018760 104018760 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 104018760 104018760 G A SNP GBF1 ENST00000369983 human ensembl 70_37 +1 known missense c.65 p.R22Q 1.000 NULL pfam_Sec7,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors GBF1 HGNC GBP1 2633 genome.wustl.edu 37 1 89520802 89520802 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 89520802 89520802 T C SNP GBP1 ENST00000370473 human ensembl 70_37 -1 known missense c.1465 p.I489V 0.989 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP1 HGNC GBP1 2633 genome.wustl.edu 37 1 89524907 89524907 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 89524907 89524907 G T SNP GBP1 ENST00000493139 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GBP1 HGNC PAXBP1 94104 genome.wustl.edu 37 21 34134460 34134460 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 34134460 34134460 A G SNP GCFC1 ENST00000331923 human ensembl 70_37 -1 known missense c.818 p.I273T 1.000 NULL pfam_GCFC_dom - no_errors GCFC1 HGNC GCM2 9247 genome.wustl.edu 37 6 10874955 10874955 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 10874955 10874955 C A SNP GCM2 ENST00000379491 human ensembl 70_37 -1 known missense c.794 p.R265I 0.998 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC GDPD2 54857 genome.wustl.edu 37 X 69649620 69649620 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 69649620 69649620 A C SNP GDPD2 ENST00000472623 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors GDPD2 HGNC GGCX 2677 genome.wustl.edu 37 2 85777676 85777676 + Splice_Site SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 85777676 85777676 A G SNP GGCX ENST00000233838 human ensembl 70_37 -1 known splice_site c.2084+2 e14+2 0.997 - - - no_errors GGCX HGNC GHR 2690 genome.wustl.edu 37 5 42719201 42719201 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 42719201 42719201 A G SNP GHR ENST00000230882 human ensembl 70_37 +1 known missense c.1592 p.D531G 1.000 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC GK2 2712 genome.wustl.edu 37 4 80328137 80328137 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 80328137 80328137 C A SNP GK2 ENST00000358842 human ensembl 70_37 -1 known missense c.1218 p.E406D 1.000 pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK2 HGNC GLB1 2720 genome.wustl.edu 37 3 33109756 33109756 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 33109756 33109756 C A SNP GLB1 ENST00000445488 human ensembl 70_37 -1 known missense c.567 p.E189D 0.562 pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC GLDC 2731 genome.wustl.edu 37 9 6588650 6588650 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 6588650 6588650 C A SNP GLDC ENST00000321612 human ensembl 70_37 -1 known missense c.1633 p.D545Y 1.000 pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo - no_errors GLDC HGNC GLDN 342035 genome.wustl.edu 37 15 51689777 51689777 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 51689777 51689777 T C SNP GLDN ENST00000335449 human ensembl 70_37 +1 known missense c.799 p.F267L 1.000 NULL pfam_Olfac-like,pfam_Collagen,smart_Olfac-like,pfscan_Olfac-like - no_errors GLDN HGNC GLI2 2736 genome.wustl.edu 37 2 121708959 121708959 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 121708959 121708959 C A SNP GLI2 ENST00000361492 human ensembl 70_37 +1 known missense c.395 p.S132Y 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC GLI2 2736 genome.wustl.edu 37 2 121740398 121740398 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 121740398 121740398 A C SNP GLI2 ENST00000361492 human ensembl 70_37 +1 known missense c.1625 p.K542T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC GLP1R 2740 genome.wustl.edu 37 6 39053697 39053697 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 39053697 39053697 C T SNP GLP1R ENST00000373256 human ensembl 70_37 +1 known missense c.1240 p.R414W 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_GLP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_GLP1/glucagon_rcpt,prints_GPCR_2_GIP_rcpt - no_errors GLP1R HGNC GLRA1 2741 genome.wustl.edu 37 5 151208606 151208606 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 151208606 151208606 T C SNP GLRA1 ENST00000455880 human ensembl 70_37 -1 known missense c.935 p.D312G 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A1,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA1 HGNC GLRA3 8001 genome.wustl.edu 37 4 175636664 175636664 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 175636664 175636664 T G SNP GLRA3 ENST00000274093 human ensembl 70_37 -1 known missense c.549 p.Q183H 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A3,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA3 HGNC GLT1D1 144423 genome.wustl.edu 37 12 129373190 129373190 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 129373190 129373190 G A SNP GLT1D1 ENST00000442111 human ensembl 70_37 +1 known missense c.224 p.R75Q 0.000 NULL pfam_Glyco_trans_1 - no_errors GLT1D1 HGNC GLT8D2 83468 genome.wustl.edu 37 12 104397061 104397061 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 104397061 104397061 C A SNP GLT8D2 ENST00000360814 human ensembl 70_37 -1 known nonsense c.136 p.E46* 1.000 NULL pfam_Glyco_trans_8 - no_errors GLT8D2 HGNC GLUD2 2747 genome.wustl.edu 37 X 120182121 120182121 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 120182121 120182121 G A SNP GLUD2 ENST00000328078 human ensembl 70_37 +1 known missense c.583 p.E195K 0.986 pfam_Glu/Leu/Phe/Val_DH_dimer_dom pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH - no_errors GLUD2 HGNC GLYATL1 92292 genome.wustl.edu 37 11 58723127 58723127 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 58723127 58723127 C T SNP GLYATL1 ENST00000300079 human ensembl 70_37 +1 known missense c.629 p.S210F 0.001 pfam_Glycine_N-acyltransferase_N,superfamily_Acyl_CoA_acyltransferase pfam_Glycine_N-acyltransferase_N,pfam_Glycine_N-acyltransferase_C,superfamily_Acyl_CoA_acyltransferase - no_errors GLYATL1 HGNC GLYR1 84656 genome.wustl.edu 37 16 4861208 4861208 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 4861208 4861208 A C SNP GLYR1 ENST00000321919 human ensembl 70_37 -1 known missense c.1550 p.V517G 1.000 superfamily_6-PGluconate_DH_C-like pfam_6PGDH_NADP-bd,pfam_PWWP,pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,smart_PWWP,pfscan_PWWP - no_errors GLYR1 HGNC GMEB1 10691 genome.wustl.edu 37 1 29018110 29018110 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 29018110 29018110 A C SNP GMEB1 ENST00000294409 human ensembl 70_37 +1 known silent c.255 p.I85 0.997 pfscan_SAND_dom pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB1 HGNC GMIP 51291 genome.wustl.edu 37 19 19745468 19745468 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 19745468 19745468 G T SNP GMIP ENST00000203556 human ensembl 70_37 -1 known silent c.1932 p.I644 0.998 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC GMNN 51053 genome.wustl.edu 37 6 24777516 24777516 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 24777516 24777516 G T SNP GMNN ENST00000230056 human ensembl 70_37 +1 known missense c.42 p.E14D 0.474 pfam_Geminin_fam pfam_Geminin_fam - no_errors GMNN HGNC GNAL 2774 genome.wustl.edu 37 18 11876657 11876657 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 11876657 11876657 A C SNP GNAL ENST00000334049 human ensembl 70_37 +1 known missense c.1200 p.R400S 1.000 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_S - no_errors GNAL HGNC GNAT1 2779 genome.wustl.edu 37 3 50232331 50232331 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 50232331 50232331 C T SNP GNAT1 ENST00000232461 human ensembl 70_37 +1 known silent c.996 p.F332 0.999 pfam_Gprotein_alpha_su,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT1 HGNC GNB2 2783 genome.wustl.edu 37 7 100276365 100276365 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 100276365 100276365 G A SNP GNB2 ENST00000303210 human ensembl 70_37 +1 known missense c.964 p.D322N 0.972 pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GNB2 HGNC GNGT1 2792 genome.wustl.edu 37 7 93540184 93540184 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 93540184 93540184 A G SNP GNGT1 ENST00000248572 human ensembl 70_37 +1 known missense c.179 p.D60G 1.000 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNGT1 HGNC GNPTAB 79158 genome.wustl.edu 37 12 102164324 102164324 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 102164324 102164324 C A SNP GNPTAB ENST00000299314 human ensembl 70_37 -1 known missense c.973 p.D325Y 1.000 pfam_DUF3184 pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom - no_errors GNPTAB HGNC GOLGA3 2802 genome.wustl.edu 37 12 133372579 133372579 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 133372579 133372579 G T SNP GOLGA3 ENST00000204726 human ensembl 70_37 -1 known silent c.2328 p.I776 0.176 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC GOLGA4 2803 genome.wustl.edu 37 3 37367213 37367213 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 37367213 37367213 G A SNP GOLGA4 ENST00000361924 human ensembl 70_37 +1 known missense c.3836 p.R1279K 0.036 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC GOLGA6L6 727832 genome.wustl.edu 37 15 20739623 20739623 + Missense_Mutation SNP C C G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 20739623 20739623 C G SNP GOLGA6L6 ENST00000427390 human ensembl 70_37 -1 known missense c.2127 p.E709D 0.984 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L6 HGNC GOLGA8EP 390535 genome.wustl.edu 37 15 23445307 23445307 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 23445307 23445307 G A SNP GOLGA8EP ENST00000526079 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors GOLGA8EP HGNC GOLGA8J 653073 genome.wustl.edu 37 15 30376974 30376974 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 30376974 30376974 T C SNP GOLGA8J ENST00000567927 human ensembl 70_37 +1 novel silent c.49 p.L17 0.007 NULL NULL - no_errors GOLGA8J HGNC GOLGA8J 653073 genome.wustl.edu 37 15 30381186 30381186 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 30381186 30381186 A G SNP GOLGA8J ENST00000341650 human ensembl 70_37 +1 known silent c.168 p.E56 0.000 NULL NULL - no_errors GOLGA8J HGNC GOLGB1 2804 genome.wustl.edu 37 3 121409629 121409629 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 121409629 121409629 C T SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known missense c.8567 p.R2856Q 0.998 superfamily_STAT_TF_coiled-coil superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC GOLGB1 2804 genome.wustl.edu 37 3 121413301 121413301 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 121413301 121413301 T C SNP GOLGB1 ENST00000340645 human ensembl 70_37 -1 known silent c.6054 p.Q2018 0.821 superfamily_Prefoldin superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC GPAM 57678 genome.wustl.edu 37 10 113928264 113928264 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 113928264 113928264 G A SNP GPAM ENST00000348367 human ensembl 70_37 -1 known nonsense c.913 p.R305* 1.000 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GPAM HGNC GPAT2 150763 genome.wustl.edu 37 2 96698050 96698050 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 96698050 96698050 G A SNP GPAT2 ENST00000359548 human ensembl 70_37 -1 known nonsense c.58 p.R20* 0.012 NULL smart_Plipid/glycerol_acylTrfase - no_errors GPAT2 HGNC GPATCH1 55094 genome.wustl.edu 37 19 33617532 33617532 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 33617532 33617532 A C SNP GPATCH1 ENST00000170564 human ensembl 70_37 +1 known missense c.2658 p.Q886H 0.975 NULL pfam_DUF1604,pfam_G_patch_dom,superfamily_C-type_lectin_fold,pfscan_G_patch_dom - no_errors GPATCH1 HGNC GPBP1 65056 genome.wustl.edu 37 5 56542249 56542249 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 56542249 56542249 A C SNP GPBP1 ENST00000424459 human ensembl 70_37 +1 known missense c.661 p.N221H 1.000 NULL NULL - no_errors GPBP1 HGNC GPC5 2262 genome.wustl.edu 37 13 92101146 92101146 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 92101146 92101146 C A SNP GPC5 ENST00000377067 human ensembl 70_37 +1 known missense c.295 p.L99I 1.000 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC GPC5 2262 genome.wustl.edu 37 13 93518569 93518569 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 93518569 93518569 G A SNP GPC5 ENST00000377067 human ensembl 70_37 +1 known silent c.1596 p.K532 1.000 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC GPD1L 23171 genome.wustl.edu 37 3 32207342 32207342 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 32207342 32207342 C T SNP GPD1L ENST00000282541 human ensembl 70_37 +1 known silent c.996 p.Y332 0.463 pfam_G3P_DH_NAD-dep_C,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk pfam_G3P_DH_NAD-dep_C,pfam_G3P_DH_NAD-dep_N,superfamily_6-PGluconate_DH_C-like,pirsf_G3P_DH_NAD-dep,prints_G3P_DH_NAD-dep,tigrfam_G3P_DH_NAD-dep_euk - no_errors GPD1L HGNC GPER 2852 genome.wustl.edu 37 7 1131452 1131452 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 1131452 1131452 G A SNP GPER ENST00000297469 human ensembl 70_37 +1 known missense c.88 p.E30K 0.074 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPER HGNC GPR111 222611 genome.wustl.edu 37 6 47649621 47649621 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 47649621 47649621 G A SNP GPR111 ENST00000296862 human ensembl 70_37 +1 known silent c.1326 p.E442 0.006 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC GPR111 222611 genome.wustl.edu 37 6 47650411 47650411 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 47650411 47650411 G T SNP GPR111 ENST00000296862 human ensembl 70_37 +1 known missense c.2116 p.D706Y 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR111 HGNC GPR112 139378 genome.wustl.edu 37 X 135405383 135405383 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 135405383 135405383 A C SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.517 p.S173R 0.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC GPR112 139378 genome.wustl.edu 37 X 135435503 135435503 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 135435503 135435503 C A SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.6830 p.S2277Y 0.653 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC GPR123 84435 genome.wustl.edu 37 10 134916234 134916234 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 134916234 134916234 A G SNP GPR123 ENST00000392607 human ensembl 70_37 +1 novel missense c.289 p.T97A 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like - no_errors GPR123 HGNC GPR132 29933 genome.wustl.edu 37 14 105518019 105518019 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 105518019 105518019 C T SNP GPR132 ENST00000329797 human ensembl 70_37 -1 known missense c.455 p.G152D 0.230 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G2A_lysphc_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G2A_lysphc_rcpt,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR132 HGNC GPR156 165829 genome.wustl.edu 37 3 119900017 119900017 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 119900017 119900017 G T SNP GPR156 ENST00000315843 human ensembl 70_37 -1 known silent c.888 p.I296 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC GPR158 57512 genome.wustl.edu 37 10 25883238 25883238 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 25883238 25883238 G T SNP GPR158 ENST00000376351 human ensembl 70_37 +1 known missense c.1910 p.R637I 0.027 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC GPR158 57512 genome.wustl.edu 37 10 25887399 25887399 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 25887399 25887399 T G SNP GPR158 ENST00000376351 human ensembl 70_37 +1 known silent c.2844 p.S948 0.001 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC GPR179 440435 genome.wustl.edu 37 17 36482659 36482659 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 36482659 36482659 C A SNP GPR179 ENST00000342292 human ensembl 70_37 -1 known nonsense c.6793 p.E2265* 0.064 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt,pfscan_GPCR_3_C - no_errors GPR179 HGNC GPR21 2844 genome.wustl.edu 37 9 125796960 125796960 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 125796960 125796960 A C SNP GPR21 ENST00000373642 human ensembl 70_37 +1 known missense c.115 p.T39P 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR21 HGNC GPR26 2849 genome.wustl.edu 37 10 125426344 125426344 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 125426344 125426344 G A SNP GPR26 ENST00000284674 human ensembl 70_37 +1 known missense c.421 p.A141T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR26 HGNC GPR34 2857 genome.wustl.edu 37 X 41555200 41555200 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 41555200 41555200 T G SNP GPR34 ENST00000378138 human ensembl 70_37 +1 known missense c.314 p.F105C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR34 HGNC GPR64 10149 genome.wustl.edu 37 X 19017237 19017237 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 19017237 19017237 C A SNP GPR64 ENST00000379869 human ensembl 70_37 -1 known missense c.2491 p.D831Y 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC GPR75 10936 genome.wustl.edu 37 2 54080632 54080632 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 54080632 54080632 T C SNP GPR75 ENST00000394705 human ensembl 70_37 -1 known missense c.1262 p.K421R 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR75 HGNC GPR83 10888 genome.wustl.edu 37 11 94129687 94129687 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 94129687 94129687 G A SNP GPR83 ENST00000243673 human ensembl 70_37 -1 known missense c.391 p.R131C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GPR83 HGNC GPR98 84059 genome.wustl.edu 37 5 90041539 90041539 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 90041539 90041539 T G SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.10901 p.I3634S 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GPR98 84059 genome.wustl.edu 37 5 90072290 90072290 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 90072290 90072290 C T SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.12424 p.R4142W 0.052 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC GPRASP1 9737 genome.wustl.edu 37 X 101911364 101911364 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 101911364 101911364 C A SNP GPRASP1 ENST00000361600 human ensembl 70_37 +1 known silent c.2523 p.V841 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC GPRC5D 55507 genome.wustl.edu 37 12 13095230 13095230 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 13095230 13095230 C T SNP GPRC5D ENST00000228887 human ensembl 70_37 -1 known missense c.928 p.A310T 1.000 NULL pfam_GPCR_3_C - no_errors GPRC5D HGNC GPRC6A 222545 genome.wustl.edu 37 6 117113737 117113737 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 117113737 117113737 G T SNP GPRC6A ENST00000310357 human ensembl 70_37 -1 known missense c.2349 p.F783L 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC GRAMD1B 57476 genome.wustl.edu 37 11 123464850 123464850 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 123464850 123464850 C T SNP GRAMD1B ENST00000322282 human ensembl 70_37 +1 known missense c.316 p.P106S 1.000 pfam_GRAM,smart_GRAM pfam_GRAM,smart_GRAM - no_errors GRAMD1B HGNC GRAMD1C 54762 genome.wustl.edu 37 3 113655209 113655209 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 113655209 113655209 G A SNP GRAMD1C ENST00000358160 human ensembl 70_37 +1 known missense c.1553 p.R518Q 0.995 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1C HGNC GRAMD1C 54762 genome.wustl.edu 37 3 113658832 113658832 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 113658832 113658832 G T SNP GRAMD1C ENST00000358160 human ensembl 70_37 +1 known missense c.1791 p.E597D 0.996 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1C HGNC GRAMD2 196996 genome.wustl.edu 37 15 72460141 72460141 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 72460141 72460141 C T SNP GRAMD2 ENST00000309731 human ensembl 70_37 -1 known missense c.308 p.G103D 1.000 pfam_GRAM,smart_GRAM pfam_GRAM,smart_GRAM - no_errors GRAMD2 HGNC GRHL1 29841 genome.wustl.edu 37 2 10105420 10105420 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 10105420 10105420 C A SNP GRHL1 ENST00000324907 human ensembl 70_37 +1 known missense c.1020 p.D340E 1.000 pfam_CP2 pfam_CP2 - no_errors GRHL1 HGNC GRID1 2894 genome.wustl.edu 37 10 87628911 87628911 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 87628911 87628911 A C SNP GRID1 ENST00000327946 human ensembl 70_37 -1 known missense c.807 p.D269E 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC GRIK4 2900 genome.wustl.edu 37 11 120769288 120769288 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 120769288 120769288 C A SNP GRIK4 ENST00000527524 human ensembl 70_37 +1 known silent c.1212 p.L404 0.737 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 GRIK4 HGNC GRIN2A 2903 genome.wustl.edu 37 16 9858082 9858082 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 9858082 9858082 T C SNP GRIN2A ENST00000330684 human ensembl 70_37 -1 known missense c.3319 p.K1107E 1.000 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC GRIP1 23426 genome.wustl.edu 37 12 66856842 66856842 + Missense_Mutation SNP G G C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 66856842 66856842 G C SNP GRIP1 ENST00000359742 human ensembl 70_37 -1 known missense c.904 p.L302V 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC GRIP2 80852 genome.wustl.edu 37 3 14558622 14558622 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 14558622 14558622 C T SNP GRIP2 ENST00000273083 human ensembl 70_37 -1 known rna NULL NULL 0.984 - - - no_errors GRIP2 HGNC GRIPAP1 56850 genome.wustl.edu 37 X 48841726 48841726 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 48841726 48841726 G A SNP GRIPAP1 ENST00000376441 human ensembl 70_37 -1 known silent c.1131 p.Y377 0.200 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC GRIPAP1 56850 genome.wustl.edu 37 X 48841800 48841800 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 48841800 48841800 T G SNP GRIPAP1 ENST00000376441 human ensembl 70_37 -1 known missense c.1057 p.T353P 1.000 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC GRM5 2915 genome.wustl.edu 37 11 88241884 88241884 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 88241884 88241884 G A SNP GRM5 ENST00000305447 human ensembl 70_37 -1 known missense c.3515 p.S1172L 1.000 pfam_Metabotropic_Glu_rcpt_Homer-bd,prints_GPCR_3_mtglu_rcpt_1 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Metabotropic_Glu_rcpt_Homer-bd,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3_mtglu_rcpt_5,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_1,pfscan_GPCR_3_C - no_errors GRM5 HGNC GRM6 2916 genome.wustl.edu 37 5 178416330 178416330 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 178416330 178416330 C A SNP GRM6 ENST00000231188 human ensembl 70_37 -1 known missense c.1089 p.E363D 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC GRM8 2918 genome.wustl.edu 37 7 126883055 126883055 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 126883055 126883055 C A SNP GRM8 ENST00000339582 human ensembl 70_37 -1 known missense c.204 p.K68N 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM8 HGNC GRPEL2 134266 genome.wustl.edu 37 5 148732527 148732527 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 148732527 148732527 T G SNP GRPEL2 ENST00000507562 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors GRPEL2 HGNC GRPR 2925 genome.wustl.edu 37 X 16142145 16142145 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 16142145 16142145 T G SNP GRPR ENST00000380289 human ensembl 70_37 +1 known missense c.69 p.S23R 0.953 prints_Gastrin_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC GRPR 2925 genome.wustl.edu 37 X 16170617 16170617 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 16170617 16170617 C T SNP GRPR ENST00000380289 human ensembl 70_37 +1 known missense c.1004 p.T335I 1.000 pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,prints_Bombsn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC GTF2H3 2967 genome.wustl.edu 37 12 124132555 124132555 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 124132555 124132555 C T SNP GTF2H3 ENST00000543341 human ensembl 70_37 +1 known silent c.246 p.F82 0.890 pfam_TF_Tfb4,tigrfam_TF_Tfb4 pfam_TF_Tfb4,tigrfam_TF_Tfb4 - no_errors GTF2H3 HGNC GTF3C4 9329 genome.wustl.edu 37 9 135553957 135553957 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 135553957 135553957 T C SNP GTF3C4 ENST00000372146 human ensembl 70_37 +1 known silent c.951 p.F317 0.948 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC GTF3C6 112495 genome.wustl.edu 37 6 111283616 111283616 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 111283616 111283616 A C SNP GTF3C6 ENST00000329970 human ensembl 70_37 +1 known missense c.269 p.K90T 1.000 NULL pfam_TFIIIC_tau55-rel - no_errors GTF3C6 HGNC GTPBP8 29083 genome.wustl.edu 37 3 112714067 112714067 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 112714067 112714067 A G SNP GTPBP8 ENST00000383678 human ensembl 70_37 +1 known missense c.521 p.E174G 1.000 pfam_GTP_binding_domain,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,tigrfam_GTP-bd_ribosome_bio_YsxC pfam_GTP_binding_domain,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,pfam_SRP_receptor_beta_su,tigrfam_GTP-bd_ribosome_bio_YsxC - no_errors GTPBP8 HGNC GUCY1B2 2974 genome.wustl.edu 37 13 51568837 51568837 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 51568837 51568837 C A SNP GUCY1B2 ENST00000493639 human ensembl 70_37 -1 known rna NULL NULL 0.016 - - - no_errors GUCY1B2 HGNC GUCY2EP 390226 genome.wustl.edu 37 11 76415304 76415304 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 76415304 76415304 T G SNP GUCY2EP ENST00000526984 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors GUCY2EP HGNC GUCY2F 2986 genome.wustl.edu 37 X 108652353 108652353 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 108652353 108652353 G T SNP GUCY2F ENST00000218006 human ensembl 70_37 -1 known missense c.1836 p.F612L 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_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 GVINP1 387751 genome.wustl.edu 37 11 6741666 6741666 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 6741666 6741666 A C SNP GVINP1 ENST00000526769 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors GVINP1 HGNC HABP2 3026 genome.wustl.edu 37 10 115343959 115343959 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 115343959 115343959 C T SNP HABP2 ENST00000351270 human ensembl 70_37 +1 known silent c.1290 p.Y430 0.994 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Kringle,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HABP2 HGNC HADH 3033 genome.wustl.edu 37 4 108948797 108948797 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 108948797 108948797 T C SNP HADH ENST00000510728 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors HADH HGNC HARS 3035 genome.wustl.edu 37 5 140062703 140062703 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140062703 140062703 T G SNP HARS ENST00000504156 human ensembl 70_37 -1 known silent c.282 p.T94 0.798 pfam_aa-tRNA-synt_IIb_cons-dom,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,tigrfam_His-tRNA-ligase pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_HisRS/HisZ,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-ligase - no_errors HARS HGNC HAUS1 115106 genome.wustl.edu 37 18 43704826 43704826 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 43704826 43704826 G T SNP HAUS1 ENST00000585518 human ensembl 70_37 +1 putative nonsense c.310 p.E104* 1.000 NULL NULL - no_errors HAUS1 HGNC HAUS3 79441 genome.wustl.edu 37 4 2240337 2240337 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 2240337 2240337 G T SNP HAUS3 ENST00000243706 human ensembl 70_37 -1 known missense c.1343 p.T448N 0.999 NULL NULL - no_errors HAUS3 HGNC HAUS3 79441 genome.wustl.edu 37 4 2240753 2240753 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 2240753 2240753 A C SNP HAUS3 ENST00000243706 human ensembl 70_37 -1 known missense c.927 p.N309K 1.000 NULL NULL - no_errors HAUS3 HGNC HAUS6 54801 genome.wustl.edu 37 9 19086756 19086756 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 19086756 19086756 A G SNP HAUS6 ENST00000380502 human ensembl 70_37 -1 known silent c.675 p.S225 0.075 NULL NULL - no_errors HAUS6 HGNC HAUS6 54801 genome.wustl.edu 37 9 19096727 19096727 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 19096727 19096727 T G SNP HAUS6 ENST00000380502 human ensembl 70_37 -1 known missense c.169 p.I57L 1.000 NULL NULL - no_errors HAUS6 HGNC HBS1L 10767 genome.wustl.edu 37 6 135358048 135358048 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 135358048 135358048 C T SNP HBS1L ENST00000367822 human ensembl 70_37 -1 known missense c.1547 p.R516Q 0.604 NULL pfam_DUF1916 - no_errors HBS1L HGNC HCN1 348980 genome.wustl.edu 37 5 45262042 45262042 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 45262042 45262042 C T SNP HCN1 ENST00000303230 human ensembl 70_37 -1 known missense c.2654 p.R885Q 1.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC HCN1 348980 genome.wustl.edu 37 5 45303915 45303915 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 45303915 45303915 T G SNP HCN1 ENST00000303230 human ensembl 70_37 -1 known missense c.1404 p.K468N 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC HCN1 348980 genome.wustl.edu 37 5 45645494 45645494 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 45645494 45645494 C A SNP HCN1 ENST00000303230 human ensembl 70_37 -1 known missense c.642 p.K214N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC HCRTR2 3062 genome.wustl.edu 37 6 55128539 55128539 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 55128539 55128539 C A SNP HCRTR2 ENST00000370862 human ensembl 70_37 +1 known missense c.681 p.F227L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn 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 HDAC3 8841 genome.wustl.edu 37 5 141007487 141007487 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 141007487 141007487 C T SNP HDAC3 ENST00000305264 human ensembl 70_37 -1 known missense c.803 p.C268Y 1.000 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC3 HGNC HDAC5 10014 genome.wustl.edu 37 17 42160003 42160003 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 42160003 42160003 T C SNP HDAC5 ENST00000225983 human ensembl 70_37 -1 known missense c.2560 p.K854E 1.000 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC HDAC5 10014 genome.wustl.edu 37 17 42171013 42171013 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 42171013 42171013 A G SNP HDAC5 ENST00000225983 human ensembl 70_37 -1 known missense c.287 p.F96S 1.000 pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC HDAC8 55869 genome.wustl.edu 37 X 71788729 71788729 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 71788729 71788729 A C SNP HDAC8 ENST00000373573 human ensembl 70_37 -1 known missense c.170 p.V57G 1.000 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC8 HGNC HDAC9 9734 genome.wustl.edu 37 7 18669010 18669010 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 18669010 18669010 A C SNP HDAC9 ENST00000441542 human ensembl 70_37 +1 known missense c.702 p.K234N 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC9 HGNC HDLBP 3069 genome.wustl.edu 37 2 242174571 242174571 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 242174571 242174571 G A SNP HDLBP ENST00000310931 human ensembl 70_37 -1 known missense c.3109 p.R1037C 0.994 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC MROH2B 133558 genome.wustl.edu 37 5 41048537 41048537 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 41048537 41048537 A C SNP HEATR7B2 ENST00000399564 human ensembl 70_37 -1 known missense c.1573 p.L525V 0.083 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B2 HGNC HEPACAM 220296 genome.wustl.edu 37 11 124793851 124793851 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 124793851 124793851 G A SNP HEPACAM ENST00000298251 human ensembl 70_37 -1 known silent c.483 p.S161 0.857 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors HEPACAM HGNC HERC1 8925 genome.wustl.edu 37 15 63964722 63964722 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 63964722 63964722 G A SNP HERC1 ENST00000443617 human ensembl 70_37 -1 known missense c.8018 p.P2673L 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC HERC2 8924 genome.wustl.edu 37 15 28436121 28436121 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 28436121 28436121 T C SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known missense c.8639 p.D2880G 1.000 superfamily_Galactose-bd-like pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5,superfamily_UBA-like,superfamily_CUB,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5,prints_Reg_chr_condens - no_errors HERC2 HGNC HERC2P4 100289574 genome.wustl.edu 37 16 32164214 32164214 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 32164214 32164214 G T SNP HERC2P4 ENST00000563904 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P4 HGNC HERC4 26091 genome.wustl.edu 37 10 69748552 69748552 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 69748552 69748552 C A SNP HERC4 ENST00000395198 human ensembl 70_37 -1 known missense c.1674 p.K558N 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC HERC6 55008 genome.wustl.edu 37 4 89304372 89304372 + Splice_Site SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 89304372 89304372 G T SNP HERC6 ENST00000264346 human ensembl 70_37 +1 known splice_site c.200-1 e2-1 1.000 - - - no_errors HERC6 HGNC HEXDC 284004 genome.wustl.edu 37 17 80377706 80377706 + Missense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 80377706 80377706 T A SNP HEXDC ENST00000337014 human ensembl 70_37 +1 known missense c.31 p.L11I 0.000 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC HEY2 23493 genome.wustl.edu 37 6 126080948 126080948 + Nonstop_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 126080948 126080948 A C SNP HEY2 ENST00000368364 human ensembl 70_37 +1 known nonstop c.1014 p.*338Y 0.919 NULL pfam_HLH_dom,pfam_Orange,superfamily_HLH_dom,smart_HLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_HLH_dom,prints_Antifreeze_1 - no_errors HEY2 HGNC HFE 3077 genome.wustl.edu 37 6 26091204 26091204 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 26091204 26091204 G A SNP HFE ENST00000357618 human ensembl 70_37 +1 known missense c.212 p.R71Q 0.001 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HFE HGNC HHIPL2 79802 genome.wustl.edu 37 1 222712003 222712003 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 222712003 222712003 C A SNP HHIPL2 ENST00000343410 human ensembl 70_37 -1 known missense c.1564 p.D522Y 1.000 pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,pfam_Glc/Sorbosone_DH,superfamily_Quinoprot_gluc/sorb_DH,superfamily_Saposin-like - no_errors HHIPL2 HGNC HIF1A 3091 genome.wustl.edu 37 14 62193397 62193397 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 62193397 62193397 T C SNP HIF1A ENST00000556237 human ensembl 70_37 +1 putative rna NULL NULL 0.003 - - - no_errors HIF1A HGNC HIF1A 3091 genome.wustl.edu 37 14 62193399 62193399 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 62193399 62193399 A C SNP HIF1A ENST00000556237 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors HIF1A HGNC HIF1AN 55662 genome.wustl.edu 37 10 102296254 102296254 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 102296254 102296254 A C SNP HIF1AN ENST00000299163 human ensembl 70_37 +1 known silent c.264 p.G88 0.978 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HIF1AN HGNC HIVEP1 3096 genome.wustl.edu 37 6 12015869 12015869 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 12015869 12015869 G A SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known missense c.8 p.R3Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC HIVEP1 3096 genome.wustl.edu 37 6 12120152 12120152 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 12120152 12120152 T G SNP HIVEP1 ENST00000379388 human ensembl 70_37 +1 known missense c.124 p.S42A 0.875 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC HK1 3098 genome.wustl.edu 37 10 71158511 71158511 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 71158511 71158511 C T SNP HK1 ENST00000448642 human ensembl 70_37 +1 known missense c.2641 p.R881C 0.995 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC HLA-A 3105 genome.wustl.edu 37 6 29911919 29911919 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 29911919 29911919 A C SNP HLA-A ENST00000376806 human ensembl 70_37 +1 known missense c.640 p.T214P 0.033 pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-A HGNC HLA-F 3134 genome.wustl.edu 37 6 29692208 29692208 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 29692208 29692208 A G SNP HLA-F ENST00000259951 human ensembl 70_37 +1 known missense c.593 p.E198G 0.988 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-F HGNC HLF 3131 genome.wustl.edu 37 17 53392589 53392589 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 53392589 53392589 T G SNP HLF ENST00000226067 human ensembl 70_37 +1 known silent c.453 p.G151 0.990 NULL pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors HLF HGNC HMCN1 83872 genome.wustl.edu 37 1 185939558 185939558 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 185939558 185939558 C T SNP HMCN1 ENST00000271588 human ensembl 70_37 +1 known silent c.2304 p.G768 0.888 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC HMCN2 256158 genome.wustl.edu 37 9 133270717 133270717 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 133270717 133270717 G T SNP HMCN2 ENST00000487727 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HMCN2 HGNC HMGB1P5 10354 genome.wustl.edu 37 3 22423690 22423690 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 22423690 22423690 G T SNP HMGB1P5 ENST00000451497 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC HMGXB3 22993 genome.wustl.edu 37 5 149412102 149412102 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 149412102 149412102 G A SNP HMGXB3 ENST00000502717 human ensembl 70_37 +1 known missense c.1919 p.R640Q 0.997 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors HMGXB3 HGNC HMMR 3161 genome.wustl.edu 37 5 162900249 162900249 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 162900249 162900249 G A SNP HMMR ENST00000393915 human ensembl 70_37 +1 known missense c.715 p.E239K 0.067 NULL NULL - no_errors HMMR HGNC HMX3 340784 genome.wustl.edu 37 10 124897036 124897036 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 124897036 124897036 C T SNP HMX3 ENST00000357878 human ensembl 70_37 +1 known missense c.863 p.A288V 1.000 superfamily_Homeodomain-like,smart_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HMX3 HGNC HNF4A 3172 genome.wustl.edu 37 20 43057043 43057043 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 43057043 43057043 A G SNP HNF4A ENST00000316099 human ensembl 70_37 +1 known missense c.1198 p.T400A 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC HNRNPH3 3189 genome.wustl.edu 37 10 70101490 70101491 + RNA INS - - T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 70101490 70101491 - T INS HNRNPH3 ENST00000478698 human ensembl 70_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors HNRNPH3 HGNC HNRNPU 3192 genome.wustl.edu 37 1 245022598 245022598 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 245022598 245022598 T G SNP HNRNPU ENST00000283179 human ensembl 70_37 -1 known missense c.1096 p.T366P 0.995 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl_sf,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd - no_errors HNRNPU HGNC HNRNPLL 92906 genome.wustl.edu 37 2 38800559 38800559 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 38800559 38800559 A G SNP HNRPLL ENST00000449105 human ensembl 70_37 -1 known silent c.885 p.G295 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRPLL HGNC HOXA11 3207 genome.wustl.edu 37 7 27224337 27224337 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 27224337 27224337 A T SNP HOXA11 ENST00000006015 human ensembl 70_37 -1 known missense c.427 p.F143I 1.000 pfam_DUF3528 pfam_DUF3528,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXA11 HGNC HPGD 3248 genome.wustl.edu 37 4 175439155 175439155 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 175439155 175439155 C A SNP HPGD ENST00000296522 human ensembl 70_37 -1 known missense c.291 p.E97D 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_ADH_insect,prints_DHB_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_ADH_insect,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HPGD HGNC HPS5 11234 genome.wustl.edu 37 11 18303547 18303547 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 18303547 18303547 C A SNP HPS5 ENST00000349215 human ensembl 70_37 -1 known missense c.3279 p.E1093D 1.000 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC HPS5 11234 genome.wustl.edu 37 11 18306950 18306950 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 18306950 18306950 T G SNP HPS5 ENST00000349215 human ensembl 70_37 -1 known missense c.2894 p.K965T 1.000 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC HPS5 11234 genome.wustl.edu 37 11 18317559 18317559 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 18317559 18317559 C A SNP HPS5 ENST00000349215 human ensembl 70_37 -1 known missense c.1621 p.A541S 1.000 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC HPS5 11234 genome.wustl.edu 37 11 18327893 18327893 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 18327893 18327893 C A SNP HPS5 ENST00000349215 human ensembl 70_37 -1 known nonsense c.613 p.E205* 1.000 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC HPSE2 60495 genome.wustl.edu 37 10 100995386 100995386 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 100995386 100995386 C A SNP HPSE2 ENST00000370552 human ensembl 70_37 -1 known missense c.174 p.K58N 1.000 NULL pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE2 HGNC HRH4 59340 genome.wustl.edu 37 18 22056721 22056721 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 22056721 22056721 G T SNP HRH4 ENST00000256906 human ensembl 70_37 +1 known missense c.368 p.R123I 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H4_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors HRH4 HGNC HS1BP3 64342 genome.wustl.edu 37 2 20838179 20838179 + Nonstop_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 20838179 20838179 A G SNP HS1BP3 ENST00000402541 human ensembl 70_37 -1 putative nonstop c.640 p.*214R 0.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors HS1BP3 HGNC HS6ST2 90161 genome.wustl.edu 37 X 131842589 131842589 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 131842589 131842589 A C SNP HS6ST2 ENST00000406696 human ensembl 70_37 -1 known missense c.26 p.L9R 0.005 NULL pfam_Sulfotransferase - no_errors HS6ST2 HGNC HSD17B4 3295 genome.wustl.edu 37 5 118814621 118814621 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 118814621 118814621 A C SNP HSD17B4 ENST00000256216 human ensembl 70_37 +1 known missense c.527 p.N176T 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_MaoC_deHydtase,pfam_DH_sc/Rdtase_SDR,pfam_SCP2_sterol-bd_dom,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,smart_PKS/FAS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors HSD17B4 HGNC HSF4 3299 genome.wustl.edu 37 16 67201667 67201667 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 67201667 67201667 G A SNP HSF4 ENST00000264009 human ensembl 70_37 +1 known missense c.899 p.G300E 1.000 NULL pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF4 HGNC HSP90AA6P 441051 genome.wustl.edu 37 4 171526097 171526097 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 171526097 171526097 C A SNP HSP90AA6P ENST00000325407 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HSP90AA6P HGNC HSPA13 6782 genome.wustl.edu 37 21 15755429 15755429 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 15755429 15755429 C A SNP HSPA13 ENST00000285667 human ensembl 70_37 -1 known missense c.12 p.E4D 1.000 NULL pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA13 HGNC HSPA8 3312 genome.wustl.edu 37 11 122929020 122929020 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 122929020 122929020 C A SNP HSPA8 ENST00000534624 human ensembl 70_37 -1 known missense c.1695 p.E565D 0.190 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC HTR1A 3350 genome.wustl.edu 37 5 63256888 63256888 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 63256888 63256888 C T SNP HTR1A ENST00000323865 human ensembl 70_37 -1 known missense c.659 p.R220Q 0.995 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC HTR1A 3350 genome.wustl.edu 37 5 63257163 63257163 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 63257163 63257163 G A SNP HTR1A ENST00000323865 human ensembl 70_37 -1 known silent c.384 p.C128 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC HTR2A 3356 genome.wustl.edu 37 13 47466697 47466697 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 47466697 47466697 A G SNP HTR2A ENST00000378688 human ensembl 70_37 -1 known silent c.441 p.L147 0.985 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2A HGNC HTR2B 3357 genome.wustl.edu 37 2 231973376 231973376 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 231973376 231973376 C T SNP HTR2B ENST00000258400 human ensembl 70_37 -1 known missense c.1301 p.R434Q 1.000 prints_5HT2B_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2B_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2B HGNC HTR3B 9177 genome.wustl.edu 37 11 113803663 113803663 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 113803663 113803663 G T SNP HTR3B ENST00000260191 human ensembl 70_37 +1 known missense c.544 p.D182Y 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_5HT3_rcpt_A,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel - no_errors HTR3B HGNC HTR3C 170572 genome.wustl.edu 37 3 183772526 183772526 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 183772526 183772526 A C SNP HTR3C ENST00000318351 human ensembl 70_37 +1 known missense c.85 p.T29P 0.588 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Neur_channel - no_errors HTR3C HGNC HTR7P1 93164 genome.wustl.edu 37 12 13157406 13157406 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 13157406 13157406 G T SNP HTR7P1 ENST00000535469 human ensembl 70_37 +1 known rna NULL NULL 0.256 - - - no_errors HTR7P1 HGNC HUWE1 10075 genome.wustl.edu 37 X 53675225 53675225 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 53675225 53675225 T G SNP HUWE1 ENST00000262854 human ensembl 70_37 -1 known missense c.74 p.K25T 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC HYAL4 23553 genome.wustl.edu 37 7 123508682 123508682 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 123508682 123508682 C T SNP HYAL4 ENST00000223026 human ensembl 70_37 +1 known nonsense c.355 p.Q119* 0.975 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase,prints_Glyco_hydro_56_PH20 - no_errors HYAL4 HGNC HYDIN 54768 genome.wustl.edu 37 16 70866947 70866947 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 70866947 70866947 A C SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.13700 p.F4567C 0.003 NULL superfamily_PapD-like - no_errors HYDIN HGNC HYDIN 54768 genome.wustl.edu 37 16 71127751 71127751 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 71127751 71127751 T G SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.1415 p.K472T 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC HYPK 25764 genome.wustl.edu 37 15 44094050 44094050 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 44094050 44094050 A C SNP HYPK ENST00000497142 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors HYPK HGNC ICA1 3382 genome.wustl.edu 37 7 8268265 8268265 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 8268265 8268265 C T SNP ICA1 ENST00000422063 human ensembl 70_37 -1 known silent c.222 p.S74 1.000 pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom pfam_Arfaptin_homology_dom,pfam_Islet_autoAg_Ica1_C,pfscan_Arfaptin_homology_dom - no_errors ICA1 HGNC ICAM3 3385 genome.wustl.edu 37 19 10445073 10445073 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 10445073 10445073 T G SNP ICAM3 ENST00000160262 human ensembl 70_37 -1 known missense c.1204 p.I402L 0.784 NULL pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM3 HGNC ICAM4 3386 genome.wustl.edu 37 19 10398021 10398021 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 10398021 10398021 G A SNP ICAM4 ENST00000340992 human ensembl 70_37 +1 known silent c.333 p.A111 0.001 pfam_ICAM_N pfam_ICAM_N - no_errors ICAM4 HGNC IDE 3416 genome.wustl.edu 37 10 94234652 94234652 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 94234652 94234652 A C SNP IDE ENST00000265986 human ensembl 70_37 -1 known missense c.2062 p.L688V 0.996 superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors IDE HGNC IDE 3416 genome.wustl.edu 37 10 94264579 94264579 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 94264579 94264579 G T SNP IDE ENST00000265986 human ensembl 70_37 -1 known missense c.1402 p.L468I 1.000 superfamily_Metalloenz_metal-bd pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd - no_errors IDE HGNC IDS 3423 genome.wustl.edu 37 X 148577936 148577936 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 148577936 148577936 C T SNP IDS ENST00000340855 human ensembl 70_37 -1 known missense c.820 p.E274K 1.000 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors IDS HGNC IFI16 3428 genome.wustl.edu 37 1 159021793 159021793 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 159021793 159021793 G T SNP IFI16 ENST00000295809 human ensembl 70_37 +1 known nonsense c.1990 p.G664* 0.000 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC IFIH1 64135 genome.wustl.edu 37 2 163124713 163124713 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 163124713 163124713 C A SNP IFIH1 ENST00000263642 human ensembl 70_37 -1 known missense c.2691 p.K897N 0.010 NULL pfam_RIG-I_C-RD,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_CARD,superfamily_DEATH-like,superfamily_ARM-type_fold,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors IFIH1 HGNC IFIT1B 439996 genome.wustl.edu 37 10 91143778 91143778 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 91143778 91143778 A G SNP IFIT1B ENST00000371809 human ensembl 70_37 +1 known silent c.708 p.G236 0.989 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1B HGNC IFIT2 3433 genome.wustl.edu 37 10 91066926 91066926 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 91066926 91066926 T G SNP IFIT2 ENST00000371826 human ensembl 70_37 +1 known missense c.1213 p.S405A 0.011 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT2 HGNC IFNA6 3443 genome.wustl.edu 37 9 21350317 21350317 + Nonstop_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 21350317 21350317 T G SNP IFNA6 ENST00000380210 human ensembl 70_37 -1 known nonstop c.570 p.*190Y 0.019 NULL pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA6 HGNC IFNGR1 3459 genome.wustl.edu 37 6 137519179 137519179 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 137519179 137519179 C A SNP IFNGR1 ENST00000367739 human ensembl 70_37 -1 known nonsense c.1459 p.E487* 0.020 NULL pfam_Interferon_gamma_pox/mammal,pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,prints_Interferon_gamma_rcpt_asu - no_errors IFNGR1 HGNC IFT122 55764 genome.wustl.edu 37 3 129234393 129234393 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 129234393 129234393 C T SNP IFT122 ENST00000296266 human ensembl 70_37 +1 known silent c.3369 p.N1123 0.566 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC IGF2BP1 10642 genome.wustl.edu 37 17 47103856 47103856 + Missense_Mutation SNP G G C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 47103856 47103856 G C SNP IGF2BP1 ENST00000290341 human ensembl 70_37 +1 known missense c.314 p.G105A 0.993 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC IGF2BP3 10643 genome.wustl.edu 37 7 23353262 23353262 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 23353262 23353262 C A SNP IGF2BP3 ENST00000258729 human ensembl 70_37 -1 known missense c.1406 p.R469I 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP3 HGNC IGSF10 285313 genome.wustl.edu 37 3 151154914 151154914 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 151154914 151154914 T G SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known missense c.7435 p.I2479L 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC IGSF10 285313 genome.wustl.edu 37 3 151155421 151155421 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 151155421 151155421 C T SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known missense c.6928 p.D2310N 0.973 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC IGSF10 285313 genome.wustl.edu 37 3 151158441 151158441 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 151158441 151158441 A C SNP IGSF10 ENST00000495443 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors IGSF10 HGNC IGSF10 285313 genome.wustl.edu 37 3 151165248 151165248 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 151165248 151165248 C A SNP IGSF10 ENST00000282466 human ensembl 70_37 -1 known nonsense c.2521 p.E841* 0.004 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF10 HGNC IHH 3549 genome.wustl.edu 37 2 219920323 219920323 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 219920323 219920323 T C SNP IHH ENST00000295731 human ensembl 70_37 -1 known missense c.842 p.D281G 0.960 pfam_Hint_dom,smart_Hint_dom_N,pirsf_Hedgehog,prints_Hedgehog pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,pfscan_Intein_splice_site,prints_Hedgehog - no_errors IHH HGNC IKZF1 10320 genome.wustl.edu 37 7 50467665 50467665 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 50467665 50467665 G A SNP IKZF1 ENST00000331340 human ensembl 70_37 +1 known silent c.900 p.E300 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC IKZF5 64376 genome.wustl.edu 37 10 124758126 124758127 + Frame_Shift_Ins INS - - T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 124758126 124758127 - T INS IKZF5 ENST00000368886 human ensembl 70_37 -1 known frame_shift_ins c.16_15 p.P5fs 1.000:0.996 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF5 HGNC IL12RB1 3594 genome.wustl.edu 37 19 18184372 18184372 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 18184372 18184372 C T SNP IL12RB1 ENST00000430026 human ensembl 70_37 -1 known silent c.738 p.E246 0.002 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB1 HGNC IL17RD 54756 genome.wustl.edu 37 3 57135379 57135379 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 57135379 57135379 G T SNP IL17RD ENST00000296318 human ensembl 70_37 -1 known nonsense c.992 p.S331* 1.000 NULL pfam_SEFIR,superfamily_TIR_dom - no_errors IL17RD HGNC IL1R1 3554 genome.wustl.edu 37 2 102792863 102792863 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 102792863 102792863 A C SNP IL1R1 ENST00000233946 human ensembl 70_37 +1 known missense c.1354 p.I452L 0.726 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1 pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1R_rcpt,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1R1 HGNC IL1RAPL1 11141 genome.wustl.edu 37 X 29301120 29301120 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 29301120 29301120 C T SNP IL1RAPL1 ENST00000302196 human ensembl 70_37 +1 known nonsense c.148 p.R50* 1.000 smart_Ig_sub,pfscan_Ig-like pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1 - no_errors IL1RAPL1 HGNC IL1RAPL2 26280 genome.wustl.edu 37 X 105011023 105011023 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 105011023 105011023 A G SNP IL1RAPL2 ENST00000344799 human ensembl 70_37 +1 known missense c.1430 p.D477G 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_Interleukin-1_rcpt_II - no_errors IL1RAPL2 HGNC IL1RL1 9173 genome.wustl.edu 37 2 102956678 102956678 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 102956678 102956678 T G SNP IL1RL1 ENST00000233954 human ensembl 70_37 +1 known missense c.393 p.I131M 0.034 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_IL1_rcpt_I/II pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1RL1 HGNC IFNLR1 163702 genome.wustl.edu 37 1 24495963 24495963 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 24495963 24495963 G A SNP IL28RA ENST00000327535 human ensembl 70_37 -1 known missense c.311 p.S104F 0.002 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3 - no_errors IL28RA HGNC IL4R 3566 genome.wustl.edu 37 16 27373632 27373632 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 27373632 27373632 G T SNP IL4R ENST00000170630 human ensembl 70_37 +1 known missense c.959 p.R320M 0.000 NULL pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC IL6ST 3572 genome.wustl.edu 37 5 55237196 55237196 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 55237196 55237196 G A SNP IL6ST ENST00000336909 human ensembl 70_37 -1 known missense c.2471 p.S824F 0.001 NULL pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ILDR1 286676 genome.wustl.edu 37 3 121720196 121720196 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 121720196 121720196 C T SNP ILDR1 ENST00000344209 human ensembl 70_37 -1 known missense c.605 p.R202H 1.000 pfam_LISCH7 pfam_LISCH7,smart_Ig_sub - no_errors ILDR1 HGNC INA 9118 genome.wustl.edu 37 10 105048397 105048397 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 105048397 105048397 G A SNP INA ENST00000369849 human ensembl 70_37 +1 known missense c.1471 p.E491K 1.000 NULL pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin - no_errors INA HGNC INPP4B 8821 genome.wustl.edu 37 4 143129638 143129638 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 143129638 143129638 C A SNP INPP4B ENST00000509777 human ensembl 70_37 -1 known nonsense c.1012 p.E338* 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4B HGNC INSR 3643 genome.wustl.edu 37 19 7128913 7128913 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 7128913 7128913 G T SNP INSR ENST00000302850 human ensembl 70_37 -1 known silent c.2895 p.V965 1.000 pirsf_Tyr_kinase_insulin-like_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_insulin-like_rcpt,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSR HGNC INTS3 65123 genome.wustl.edu 37 1 153737475 153737475 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 153737475 153737475 C A SNP INTS3 ENST00000318967 human ensembl 70_37 +1 known missense c.2026 p.L676I 1.000 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC INTS6 26512 genome.wustl.edu 37 13 51997186 51997186 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 51997186 51997186 T C SNP INTS6 ENST00000461515 human ensembl 70_37 -1 known rna NULL NULL 0.102 - - - no_errors INTS6 HGNC IQCG 84223 genome.wustl.edu 37 3 197618337 197618337 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 197618337 197618337 C A SNP IQCG ENST00000265239 human ensembl 70_37 -1 known nonsense c.1177 p.E393* 0.992 pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC IQGAP2 10788 genome.wustl.edu 37 5 75967719 75967719 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 75967719 75967719 C T SNP IQGAP2 ENST00000274364 human ensembl 70_37 +1 known silent c.2979 p.I993 0.029 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP2 HGNC IQSEC1 9922 genome.wustl.edu 37 3 12950878 12950878 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 12950878 12950878 A C SNP IQSEC1 ENST00000273221 human ensembl 70_37 -1 known missense c.2515 p.L839V 1.000 smart_Pleckstrin_homology pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC1 HGNC IRX4 50805 genome.wustl.edu 37 5 1879762 1879762 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 1879762 1879762 G A SNP IRX4 ENST00000231357 human ensembl 70_37 -1 known missense c.592 p.R198W 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX4 HGNC IRX4 50805 genome.wustl.edu 37 5 1881980 1881980 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 1881980 1881980 G A SNP IRX4 ENST00000231357 human ensembl 70_37 -1 known missense c.239 p.S80L 0.996 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain - no_errors IRX4 HGNC ISL1 3670 genome.wustl.edu 37 5 50683411 50683411 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 50683411 50683411 C T SNP ISL1 ENST00000230658 human ensembl 70_37 +1 known silent c.306 p.I102 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors ISL1 HGNC ISLR2 57611 genome.wustl.edu 37 15 74426936 74426936 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 74426936 74426936 G T SNP ISLR2 ENST00000361742 human ensembl 70_37 +1 known missense c.1841 p.C614F 1.000 NULL pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like - no_errors ISLR2 HGNC ITGA1 3672 genome.wustl.edu 37 5 52206101 52206101 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 52206101 52206101 G A SNP ITGA1 ENST00000282588 human ensembl 70_37 +1 known missense c.1709 p.R570H 1.000 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ITGA8 8516 genome.wustl.edu 37 10 15590565 15590565 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 15590565 15590565 A G SNP ITGA8 ENST00000378076 human ensembl 70_37 -1 known silent c.2769 p.N923 0.687 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ITGAE 3682 genome.wustl.edu 37 17 3643106 3643106 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 3643106 3643106 C T SNP ITGAE ENST00000263087 human ensembl 70_37 -1 known missense c.2515 p.V839I 0.006 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_VWF_A,smart_Int_alpha_beta-p,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAE HGNC ITGAL 3683 genome.wustl.edu 37 16 30495257 30495257 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 30495257 30495257 G T SNP ITGAL ENST00000356798 human ensembl 70_37 +1 known missense c.832 p.D278Y 0.988 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAL HGNC ITGB2 3689 genome.wustl.edu 37 21 46320235 46320235 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 46320235 46320235 G A SNP ITGB2 ENST00000302347 human ensembl 70_37 -1 known silent c.897 p.F299 0.785 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ITGB3BP 23421 genome.wustl.edu 37 1 63906588 63906588 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 63906588 63906588 A C SNP ITGB3BP ENST00000461681 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ITGB3BP HGNC ITGB5 3693 genome.wustl.edu 37 3 124482543 124482543 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 124482543 124482543 T G SNP ITGB5 ENST00000296181 human ensembl 70_37 -1 known missense c.2327 p.K776T 1.000 pfam_Integrin_bsu_cyt,pirsf_Integrin_bsu,prints_Integrin_bsu pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,smart_VWF_A,pirsf_Integrin_bsu,prints_Integrin_bsu - no_errors ITGB5 HGNC ITIH3 3699 genome.wustl.edu 37 3 52835148 52835148 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 52835148 52835148 G A SNP ITIH3 ENST00000449956 human ensembl 70_37 +1 known missense c.1369 p.D457N 0.003 smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH3 HGNC ITIH4 3700 genome.wustl.edu 37 3 52860028 52860028 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 52860028 52860028 A C SNP ITIH4 ENST00000266041 human ensembl 70_37 -1 known silent c.633 p.A211 0.998 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH4 HGNC ITM2C 81618 genome.wustl.edu 37 2 231741620 231741620 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 231741620 231741620 G A SNP ITM2C ENST00000326427 human ensembl 70_37 +1 known missense c.499 p.E167K 0.999 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors ITM2C HGNC ITPK1-AS1 319085 genome.wustl.edu 37 14 93534259 93534259 + RNA SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 93534259 93534259 A T SNP ITPK1-AS1 ENST00000553639 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors ITPK1-AS1 HGNC ITSN2 50618 genome.wustl.edu 37 2 24509100 24509100 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 24509100 24509100 G T SNP ITSN2 ENST00000355123 human ensembl 70_37 -1 known missense c.1844 p.S615Y 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC IVL 3713 genome.wustl.edu 37 1 152882447 152882447 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 152882447 152882447 G T SNP IVL ENST00000368764 human ensembl 70_37 +1 known missense c.174 p.K58N 0.000 pfam_Involucrin_N pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC IWS1 55677 genome.wustl.edu 37 2 128263003 128263003 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 128263003 128263003 G T SNP IWS1 ENST00000295321 human ensembl 70_37 -1 known missense c.476 p.S159Y 0.962 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC JAG1 182 genome.wustl.edu 37 20 10639163 10639163 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 10639163 10639163 C T SNP JAG1 ENST00000254958 human ensembl 70_37 -1 known missense c.647 p.G216D 1.000 pfam_DSL,smart_DSL,pfscan_DSL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC JAK2 3717 genome.wustl.edu 37 9 5050791 5050791 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 5050791 5050791 G T SNP JAK2 ENST00000381652 human ensembl 70_37 +1 known nonsense c.574 p.E192* 1.000 superfamily_FERM_central,smart_Band_41_domain,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC JAK2 3717 genome.wustl.edu 37 9 5090886 5090886 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 5090886 5090886 G T SNP JAK2 ENST00000381652 human ensembl 70_37 +1 known nonsense c.3034 p.E1012* 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC JARID2 3720 genome.wustl.edu 37 6 15511553 15511553 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 15511553 15511553 A G SNP JARID2 ENST00000341776 human ensembl 70_37 +1 known missense c.2873 p.N958S 0.983 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC JARID2 3720 genome.wustl.edu 37 6 15517424 15517424 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 15517424 15517424 T C SNP JARID2 ENST00000341776 human ensembl 70_37 +1 known silent c.3483 p.C1161 1.000 pfam_Znf_C5HC2 pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC KANSL2 54934 genome.wustl.edu 37 12 49075215 49075215 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 49075215 49075215 C A SNP KANSL2 ENST00000420613 human ensembl 70_37 -1 known missense c.201 p.K67N 1.000 NULL NULL - no_errors KANSL2 HGNC KCNA1 3736 genome.wustl.edu 37 12 5027214 5027214 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 5027214 5027214 G T SNP KCNA1 ENST00000543874 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors KCNA1 HGNC KCNA10 3744 genome.wustl.edu 37 1 111060775 111060775 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 111060775 111060775 G A SNP KCNA10 ENST00000369771 human ensembl 70_37 -1 known missense c.635 p.S212F 1.000 prints_K_chnl,prints_K_chnl_volt-dep_Kv1 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,prints_K_chnl_volt-dep_Kv - no_errors KCNA10 HGNC KCNA4 3739 genome.wustl.edu 37 11 30032823 30032823 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 30032823 30032823 C A SNP KCNA4 ENST00000328224 human ensembl 70_37 -1 known missense c.1403 p.G468V 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC KCNA4 3739 genome.wustl.edu 37 11 30034018 30034018 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 30034018 30034018 C T SNP KCNA4 ENST00000328224 human ensembl 70_37 -1 known missense c.208 p.A70T 0.992 pfam_K_chnl_volt-dep_Kv1.4_TID pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC KCNA5 3741 genome.wustl.edu 37 12 5153773 5153773 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 5153773 5153773 C T SNP KCNA5 ENST00000252321 human ensembl 70_37 +1 known missense c.460 p.R154C 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv1 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 KCNC2 3747 genome.wustl.edu 37 12 75601247 75601247 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 75601247 75601247 C T SNP KCNC2 ENST00000549446 human ensembl 70_37 -1 known missense c.517 p.D173N 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC KCNG1 3755 genome.wustl.edu 37 20 49620923 49620923 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 49620923 49620923 C T SNP KCNG1 ENST00000371571 human ensembl 70_37 -1 known missense c.1195 p.E399K 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC KCNH4 23415 genome.wustl.edu 37 17 40330366 40330366 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 40330366 40330366 C T SNP KCNH4 ENST00000264661 human ensembl 70_37 -1 known missense c.440 p.R147H 0.029 NULL pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC KCNJ16 3773 genome.wustl.edu 37 17 68128346 68128346 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 68128346 68128346 G T SNP KCNJ16 ENST00000283936 human ensembl 70_37 +1 known missense c.118 p.D40Y 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir5,prints_K_chnl_inward-rec_Kir - no_errors KCNJ16 HGNC KCNJ2 3759 genome.wustl.edu 37 17 68172113 68172113 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 68172113 68172113 C T SNP KCNJ2 ENST00000243457 human ensembl 70_37 +1 known silent c.933 p.C311 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 KCNK10 54207 genome.wustl.edu 37 14 88652276 88652276 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 88652276 88652276 C T SNP KCNK10 ENST00000312350 human ensembl 70_37 -1 known missense c.1235 p.R412H 1.000 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC KCNK10 54207 genome.wustl.edu 37 14 88729708 88729708 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 88729708 88729708 G T SNP KCNK10 ENST00000312350 human ensembl 70_37 -1 known silent c.240 p.I80 1.000 prints_2pore_dom_K_chnl_TASK pfam_Ion_trans_2,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC KCNK16 83795 genome.wustl.edu 37 6 39290160 39290160 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 39290160 39290160 G A SNP KCNK16 ENST00000425054 human ensembl 70_37 -1 known missense c.157 p.R53C 0.999 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl - no_errors KCNK16 HGNC KCNK5 8645 genome.wustl.edu 37 6 39158729 39158729 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 39158729 39158729 G T SNP KCNK5 ENST00000359534 human ensembl 70_37 -1 known silent c.1437 p.L479 0.825 NULL pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC KCNN2 3781 genome.wustl.edu 37 5 113740463 113740463 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 113740463 113740463 C A SNP KCNN2 ENST00000264773 human ensembl 70_37 +1 known missense c.911 p.T304N 1.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN2 HGNC KCNQ2 3785 genome.wustl.edu 37 20 62071029 62071029 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 62071029 62071029 C A SNP KCNQ2 ENST00000354587 human ensembl 70_37 -1 known missense c.849 p.K283N 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC KCNQ5 56479 genome.wustl.edu 37 6 73751728 73751728 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 73751728 73751728 C T SNP KCNQ5 ENST00000402622 human ensembl 70_37 +1 known nonsense c.559 p.R187* 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC KCNS1 3787 genome.wustl.edu 37 20 43726587 43726587 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 43726587 43726587 C T SNP KCNS1 ENST00000306117 human ensembl 70_37 -1 known missense c.826 p.E276K 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6 - no_errors KCNS1 HGNC KCNT1 57582 genome.wustl.edu 37 9 138657518 138657518 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 138657518 138657518 C T SNP KCNT1 ENST00000298480 human ensembl 70_37 +1 known missense c.1249 p.R417C 0.998 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT1 HGNC KCTD16 57528 genome.wustl.edu 37 5 143586723 143586723 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 143586723 143586723 G T SNP KCTD16 ENST00000507359 human ensembl 70_37 +1 known missense c.446 p.R149I 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD16 HGNC KCTD18 130535 genome.wustl.edu 37 2 201362513 201362513 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 201362513 201362513 C A SNP KCTD18 ENST00000359878 human ensembl 70_37 -1 known missense c.624 p.K208N 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD18 HGNC KCTD7 154881 genome.wustl.edu 37 7 66098334 66098334 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 66098334 66098334 G A SNP KCTD7 ENST00000275532 human ensembl 70_37 +1 known missense c.217 p.E73K 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD7 HGNC KERA 11081 genome.wustl.edu 37 12 91449677 91449677 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 91449677 91449677 G T SNP KERA ENST00000266719 human ensembl 70_37 -1 known missense c.382 p.L128M 1.000 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 KERA HGNC KHDC1 80759 genome.wustl.edu 37 6 74019283 74019283 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 74019283 74019283 C A SNP KHDC1 ENST00000370384 human ensembl 70_37 -1 putative missense c.155 p.R52I 0.007 NULL NULL - no_errors KHDC1 HGNC KHDC1 80759 genome.wustl.edu 37 6 74019363 74019363 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 74019363 74019363 G T SNP KHDC1 ENST00000370384 human ensembl 70_37 -1 putative silent c.75 p.I25 0.000 NULL NULL - no_errors KHDC1 HGNC KIAA0020 9933 genome.wustl.edu 37 9 2830977 2830977 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 2830977 2830977 T C SNP KIAA0020 ENST00000397885 human ensembl 70_37 -1 known missense c.662 p.K221R 1.000 superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt pfam_CPL,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors KIAA0020 HGNC KIAA0232 9778 genome.wustl.edu 37 4 6862712 6862712 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 6862712 6862712 T C SNP KIAA0232 ENST00000307659 human ensembl 70_37 +1 known silent c.603 p.C201 0.945 NULL NULL - no_errors KIAA0232 HGNC KIAA0408 9729 genome.wustl.edu 37 6 127767741 127767741 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 127767741 127767741 C T SNP KIAA0408 ENST00000483725 human ensembl 70_37 -1 novel missense c.1723 p.E575K 0.001 NULL NULL - no_errors KIAA0408 HGNC C2CD5 9847 genome.wustl.edu 37 12 22677465 22677465 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 22677465 22677465 C T SNP KIAA0528 ENST00000333957 human ensembl 70_37 -1 known missense c.542 p.R181Q 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors KIAA0528 HGNC KIAA0754 643314 genome.wustl.edu 37 1 39876975 39876975 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 39876975 39876975 G T SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known missense c.630 p.K210N 0.791 NULL NULL - no_errors KIAA0754 HGNC KIAA0922 23240 genome.wustl.edu 37 4 154523328 154523328 + Nonsense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 154523328 154523328 T G SNP KIAA0922 ENST00000409959 human ensembl 70_37 +1 known nonsense c.2291 p.L764* 1.000 NULL pfam_DUF3651_TMEM131 - no_errors KIAA0922 HGNC KIAA0947 23379 genome.wustl.edu 37 5 5466580 5466580 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 5466580 5466580 G T SNP KIAA0947 ENST00000296564 human ensembl 70_37 +1 known missense c.6026 p.R2009I 1.000 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC KIAA1009 22832 genome.wustl.edu 37 6 84836151 84836151 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 84836151 84836151 C A SNP KIAA1009 ENST00000403245 human ensembl 70_37 -1 known missense c.3951 p.K1317N 1.000 NULL NULL - no_errors KIAA1009 HGNC KIAA1024 23251 genome.wustl.edu 37 15 79748540 79748540 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 79748540 79748540 A C SNP KIAA1024 ENST00000305428 human ensembl 70_37 +1 known missense c.51 p.E17D 0.173 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC KIAA1033 23325 genome.wustl.edu 37 12 105504914 105504914 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 105504914 105504914 G A SNP KIAA1033 ENST00000332180 human ensembl 70_37 +1 known missense c.73 p.E25K 1.000 NULL NULL - no_errors KIAA1033 HGNC KIAA1033 23325 genome.wustl.edu 37 12 105538215 105538215 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 105538215 105538215 C T SNP KIAA1033 ENST00000332180 human ensembl 70_37 +1 known missense c.2161 p.R721C 1.000 NULL NULL - no_errors KIAA1033 HGNC KIAA1109 84162 genome.wustl.edu 37 4 123165053 123165053 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 123165053 123165053 A C SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known missense c.4787 p.D1596A 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC KIAA1109 84162 genome.wustl.edu 37 4 123267858 123267858 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 123267858 123267858 T C SNP KIAA1109 ENST00000264501 human ensembl 70_37 +1 known missense c.12814 p.Y4272H 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC KIAA1210 57481 genome.wustl.edu 37 X 118227698 118227698 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 118227698 118227698 G T SNP KIAA1210 ENST00000402510 human ensembl 70_37 -1 known missense c.1415 p.S472Y 0.025 NULL NULL - no_errors KIAA1210 HGNC KIAA1211 57482 genome.wustl.edu 37 4 57193851 57193851 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 57193851 57193851 G T SNP KIAA1211 ENST00000504228 human ensembl 70_37 +1 known nonsense c.3583 p.E1195* 1.000 NULL NULL - no_errors KIAA1211 HGNC KIAA1239 57495 genome.wustl.edu 37 4 37446088 37446088 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 37446088 37446088 C A SNP KIAA1239 ENST00000309447 human ensembl 70_37 +1 known silent c.2478 p.I826 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC KIAA1239 57495 genome.wustl.edu 37 4 37447402 37447402 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 37447402 37447402 A G SNP KIAA1239 ENST00000309447 human ensembl 70_37 +1 known silent c.3792 p.G1264 0.573 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIAA1239 HGNC KIAA1244 57221 genome.wustl.edu 37 6 138640859 138640859 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 138640859 138640859 T C SNP KIAA1244 ENST00000251691 human ensembl 70_37 +1 known silent c.4494 p.Y1498 1.000 superfamily_ARM-type_fold pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7 - no_errors KIAA1244 HGNC MAP10 54627 genome.wustl.edu 37 1 232941134 232941134 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 232941134 232941134 G T SNP KIAA1383 ENST00000418460 human ensembl 70_37 +1 known missense c.365 p.R122I 1.000 NULL NULL - no_errors KIAA1383 HGNC KIAA1430 57587 genome.wustl.edu 37 4 186112193 186112193 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 186112193 186112193 G A SNP KIAA1430 ENST00000296775 human ensembl 70_37 -1 known missense c.158 p.S53L 0.089 NULL NULL - no_errors KIAA1430 HGNC KIAA1432 57589 genome.wustl.edu 37 9 5765691 5765691 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 5765691 5765691 C A SNP KIAA1432 ENST00000418622 human ensembl 70_37 +1 known missense c.2793 p.F931L 1.000 NULL pfam_Ribosome_control_1,superfamily_WD40_repeat_dom - no_errors KIAA1432 HGNC KIAA1467 57613 genome.wustl.edu 37 12 13233558 13233558 + Splice_Site SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 13233558 13233558 G T SNP KIAA1467 ENST00000197268 human ensembl 70_37 +1 known splice_site c.1864-1 e13-1 0.022 - - - no_errors KIAA1467 HGNC KIAA1549 57670 genome.wustl.edu 37 7 138588463 138588463 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 138588463 138588463 C A SNP KIAA1549 ENST00000422774 human ensembl 70_37 -1 known missense c.3540 p.E1180D 1.000 NULL NULL - no_errors KIAA1549 HGNC KIAA1549L 25758 genome.wustl.edu 37 11 33631415 33631415 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 33631415 33631415 G A SNP KIAA1549L ENST00000389726 human ensembl 70_37 +1 known missense c.4309 p.E1437K 0.993 NULL NULL - no_errors KIAA1549L HGNC KIAA1551 55196 genome.wustl.edu 37 12 32137827 32137827 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 32137827 32137827 C A SNP KIAA1551 ENST00000312561 human ensembl 70_37 +1 known missense c.3938 p.S1313Y 0.000 NULL NULL - no_errors KIAA1551 HGNC KIAA1586 57691 genome.wustl.edu 37 6 56918562 56918562 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 56918562 56918562 G A SNP KIAA1586 ENST00000370733 human ensembl 70_37 +1 known missense c.1265 p.R422Q 0.989 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors KIAA1586 HGNC KIAA1683 80726 genome.wustl.edu 37 19 18380275 18380275 + Splice_Site SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 18380275 18380275 C T SNP KIAA1683 ENST00000392413 human ensembl 70_37 -1 known splice_site c.13+1 e1+1 1.000 - - - no_errors KIAA1683 HGNC KIAA1715 80856 genome.wustl.edu 37 2 176794800 176794800 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 176794800 176794800 C A SNP KIAA1715 ENST00000544803 human ensembl 70_37 -1 known missense c.1275 p.E425D 0.659 NULL pfam_DUF2296 - no_errors KIAA1715 HGNC KIAA1731 85459 genome.wustl.edu 37 11 93399888 93399888 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 93399888 93399888 C T SNP KIAA1731 ENST00000411936 human ensembl 70_37 +1 known silent c.15 p.V5 0.001 NULL NULL - no_errors KIAA1731 HGNC KIAA1731 85459 genome.wustl.edu 37 11 93431732 93431732 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 93431732 93431732 G T SNP KIAA1731 ENST00000411936 human ensembl 70_37 +1 known missense c.3654 p.Q1218H 0.067 NULL NULL - no_errors KIAA1731 HGNC KIAA1841 84542 genome.wustl.edu 37 2 61310442 61310442 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 61310442 61310442 T G SNP KIAA1841 ENST00000356719 human ensembl 70_37 +1 known missense c.883 p.F295V 0.998 pfam_DUF3342 pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like - no_errors KIAA1841 HGNC KIAA2022 340533 genome.wustl.edu 37 X 73962043 73962043 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 73962043 73962043 C A SNP KIAA2022 ENST00000055682 human ensembl 70_37 -1 known missense c.2349 p.K783N 1.000 NULL NULL - no_errors KIAA2022 HGNC KIAA2022 340533 genome.wustl.edu 37 X 73965413 73965413 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 73965413 73965413 C A SNP KIAA2022 ENST00000055682 human ensembl 70_37 -1 known nonsense c.73 p.E25* 1.000 NULL NULL - no_errors KIAA2022 HGNC KIAA2026 158358 genome.wustl.edu 37 9 5921108 5921108 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 5921108 5921108 T G SNP KIAA2026 ENST00000399933 human ensembl 70_37 -1 novel missense c.4888 p.N1630H 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC KIF1A 547 genome.wustl.edu 37 2 241664796 241664796 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 241664796 241664796 A C SNP KIF1A ENST00000498729 human ensembl 70_37 -1 known missense c.4148 p.V1383G 0.998 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC KIF1B 23095 genome.wustl.edu 37 1 10327452 10327452 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 10327452 10327452 A C SNP KIF1B ENST00000263934 human ensembl 70_37 +1 known missense c.444 p.E148D 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC KIF24 347240 genome.wustl.edu 37 9 34257873 34257873 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 34257873 34257873 A G SNP KIF24 ENST00000379166 human ensembl 70_37 -1 known silent c.1732 p.L578 0.420 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC KIF4A 24137 genome.wustl.edu 37 X 69595079 69595079 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 69595079 69595079 C A SNP KIF4A ENST00000374403 human ensembl 70_37 +1 known missense c.1804 p.L602I 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC KIF4B 285643 genome.wustl.edu 37 5 154395747 154395747 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 154395747 154395747 G T SNP KIF4B ENST00000435029 human ensembl 70_37 +1 known missense c.2328 p.Q776H 0.998 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4B HGNC KIFAP3 22920 genome.wustl.edu 37 1 169951900 169951900 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 169951900 169951900 C T SNP KIFAP3 ENST00000361580 human ensembl 70_37 -1 known missense c.1615 p.E539K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC KIFAP3 22920 genome.wustl.edu 37 1 169993693 169993693 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 169993693 169993693 C T SNP KIFAP3 ENST00000361580 human ensembl 70_37 -1 known missense c.886 p.E296K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC KIN 22944 genome.wustl.edu 37 10 7798011 7798011 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 7798011 7798011 G T SNP KIN ENST00000463666 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors KIN HGNC KL 9365 genome.wustl.edu 37 13 33628404 33628404 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 33628404 33628404 A C SNP KL ENST00000380099 human ensembl 70_37 +1 known missense c.1320 p.E440D 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors KL HGNC KLF3 51274 genome.wustl.edu 37 4 38698705 38698705 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 38698705 38698705 G T SNP KLF3 ENST00000261438 human ensembl 70_37 +1 known nonsense c.859 p.E287* 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC KLHL4 56062 genome.wustl.edu 37 X 86869044 86869044 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 86869044 86869044 A G SNP KLHL4 ENST00000373114 human ensembl 70_37 +1 known missense c.587 p.H196R 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC KLK8 11202 genome.wustl.edu 37 19 51501139 51501139 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 51501139 51501139 C A SNP KLK8 ENST00000391806 human ensembl 70_37 -1 known missense c.630 p.E210D 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK8 HGNC KNTC1 9735 genome.wustl.edu 37 12 123057714 123057714 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 123057714 123057714 G A SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known missense c.2165 p.R722Q 1.000 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC KNTC1 9735 genome.wustl.edu 37 12 123062327 123062327 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 123062327 123062327 C A SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known missense c.2830 p.H944N 0.000 superfamily_PAH pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC KPNA3 3839 genome.wustl.edu 37 13 50366632 50366632 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 50366632 50366632 T G SNP KPNA3 ENST00000261667 human ensembl 70_37 -1 known missense c.11 p.N4T 1.000 pfam_Importin-a_IBB,pfscan_Importin-a_IBB pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA3 HGNC KRBA2 124751 genome.wustl.edu 37 17 8272985 8272985 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 8272985 8272985 G T SNP KRBA2 ENST00000331336 human ensembl 70_37 -1 known missense c.946 p.L316I 0.998 superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core pfam_Krueppel-associated_box,superfamily_RNaseH-like_dom,superfamily_Krueppel-associated_box,pfscan_Integrase_cat-core - no_errors KRBA2 HGNC KRT1 3848 genome.wustl.edu 37 12 53070101 53070101 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 53070101 53070101 T C SNP KRT1 ENST00000252244 human ensembl 70_37 -1 known missense c.1433 p.E478G 1.000 pfam_F,superfamily_Prefoldin pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC KRT16P2 400578 genome.wustl.edu 37 17 16734875 16734875 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 16734875 16734875 G A SNP KRT16P2 ENST00000579062 human ensembl 70_37 -1 known rna NULL NULL 0.990 - - - no_errors KRT16P2 HGNC KRT24 192666 genome.wustl.edu 37 17 38859538 38859538 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 38859538 38859538 G T SNP KRT24 ENST00000264651 human ensembl 70_37 -1 known missense c.408 p.F136L 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT24 HGNC KRT25 147183 genome.wustl.edu 37 17 38904606 38904606 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 38904606 38904606 G T SNP KRT25 ENST00000312150 human ensembl 70_37 -1 known missense c.1276 p.L426I 0.980 NULL pfam_F,prints_Keratin_I - no_errors KRT25 HGNC KRT35 3886 genome.wustl.edu 37 17 39636896 39636896 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 39636896 39636896 C T SNP KRT35 ENST00000393989 human ensembl 70_37 -1 known missense c.454 p.E152K 0.949 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT35 HGNC KRTAP11-1 337880 genome.wustl.edu 37 21 32253821 32253821 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 32253821 32253821 C A SNP KRTAP11-1 ENST00000332378 human ensembl 70_37 -1 known missense c.23 p.R8I 0.759 pfam_PMG pfam_PMG - no_errors KRTAP11-1 HGNC L1CAM 3897 genome.wustl.edu 37 X 153137669 153137669 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 153137669 153137669 C T SNP L1CAM ENST00000543994 human ensembl 70_37 -1 known missense c.344 p.R115H 1.000 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 L1CAM HGNC L3MBTL1 26013 genome.wustl.edu 37 20 42159421 42159421 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 42159421 42159421 C T SNP L3MBTL1 ENST00000497347 human ensembl 70_37 +1 known rna NULL NULL 0.968 - - - no_errors L3MBTL1 HGNC LACC1 144811 genome.wustl.edu 37 13 44462906 44462906 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 44462906 44462906 T G SNP LACC1 ENST00000325686 human ensembl 70_37 +1 known silent c.921 p.T307 0.919 pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat - no_errors LACC1 HGNC LAMA1 284217 genome.wustl.edu 37 18 6980553 6980553 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 6980553 6980553 C A SNP LAMA1 ENST00000389658 human ensembl 70_37 -1 known nonsense c.5974 p.E1992* 0.779 NULL pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC LAMA2 3908 genome.wustl.edu 37 6 129571353 129571353 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 129571353 129571353 T G SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known missense c.1879 p.L627V 0.994 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC LAMA2 3908 genome.wustl.edu 37 6 129573365 129573365 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 129573365 129573365 T G SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known missense c.2021 p.F674C 1.000 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC LAMA2 3908 genome.wustl.edu 37 6 129785560 129785560 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 129785560 129785560 C T SNP LAMA2 ENST00000421865 human ensembl 70_37 +1 known missense c.7118 p.S2373L 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC LAMC3 10319 genome.wustl.edu 37 9 133911651 133911651 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 133911651 133911651 G A SNP LAMC3 ENST00000361069 human ensembl 70_37 +1 known missense c.908 p.R303H 0.175 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC LAMTOR4 389541 genome.wustl.edu 37 7 99751273 99751273 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 99751273 99751273 G A SNP LAMTOR4 ENST00000441173 human ensembl 70_37 +1 putative missense c.335 p.G112E 0.028 NULL NULL - no_errors LAMTOR4 HGNC LAP3 51056 genome.wustl.edu 37 4 17583415 17583415 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 17583415 17583415 G A SNP LAP3 ENST00000226299 human ensembl 70_37 +1 known missense c.251 p.R84Q 1.000 pfam_Peptidase_M17_N pfam_Peptidase_M17_C,pfam_Peptidase_M17_N,prints_Peptidase_M17 - no_errors LAP3 HGNC LARP1 23367 genome.wustl.edu 37 5 154173553 154173553 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 154173553 154173553 C T SNP LARP1 ENST00000336314 human ensembl 70_37 +1 known silent c.831 p.G277 0.994 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC LARP4 113251 genome.wustl.edu 37 12 50869372 50869372 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 50869372 50869372 C A SNP LARP4 ENST00000429001 human ensembl 70_37 +1 known missense c.1918 p.L640I 0.999 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4 HGNC LARS 51520 genome.wustl.edu 37 5 145537109 145537109 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 145537109 145537109 G A SNP LARS ENST00000394434 human ensembl 70_37 -1 known missense c.922 p.R308C 0.999 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk - no_errors LARS HGNC LCE1D 353134 genome.wustl.edu 37 1 152770355 152770355 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 152770355 152770355 T C SNP LCE1D ENST00000326233 human ensembl 70_37 +1 known missense c.85 p.C29R 0.236 NULL NULL - no_errors LCE1D HGNC LCMT1 51451 genome.wustl.edu 37 16 25162906 25162906 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 25162906 25162906 G T SNP LCMT1 ENST00000399069 human ensembl 70_37 +1 known nonsense c.436 p.E146* 0.073 pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1 pfam_LCM_MeTrfase,pirsf_Leu_CO_MeTrfase_LCTM1 - no_errors LCMT1 HGNC LDHAL6CP 121498 genome.wustl.edu 37 12 63398299 63398299 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 63398299 63398299 T C SNP LDHAL6CP ENST00000550738 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors LDHAL6CP HGNC LDHD 197257 genome.wustl.edu 37 16 75150535 75150535 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 75150535 75150535 C A SNP LDHD ENST00000569876 human ensembl 70_37 -1 known missense c.84 p.E28D 0.000 NULL NULL - no_errors LDHD HGNC LECT1 11061 genome.wustl.edu 37 13 53277901 53277901 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 53277901 53277901 G A SNP LECT1 ENST00000377962 human ensembl 70_37 -1 known silent c.834 p.H278 0.988 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors LECT1 HGNC LEPR 3953 genome.wustl.edu 37 1 66036405 66036405 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 66036405 66036405 G T SNP LEPR ENST00000349533 human ensembl 70_37 +1 known missense c.290 p.R97I 0.969 NULL pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LEPR HGNC LEPR 3953 genome.wustl.edu 37 1 66088677 66088677 + RNA SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 66088677 66088677 A T SNP LEPR ENST00000471762 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LEPR HGNC LEPREL1 55214 genome.wustl.edu 37 3 189706770 189706770 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 189706770 189706770 C T SNP LEPREL1 ENST00000319332 human ensembl 70_37 -1 known missense c.881 p.R294H 0.999 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC LEPROTL1 23484 genome.wustl.edu 37 8 29961916 29961916 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 29961916 29961916 G A SNP LEPROTL1 ENST00000523116 human ensembl 70_37 +1 known missense c.193 p.A65T 1.000 pfam_VPS55 pfam_VPS55 - no_errors LEPROTL1 HGNC LGI2 55203 genome.wustl.edu 37 4 25005856 25005856 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 25005856 25005856 G A SNP LGI2 ENST00000382114 human ensembl 70_37 -1 known silent c.855 p.I285 0.998 pfam_EPTP pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI2 HGNC LHCGR 3973 genome.wustl.edu 37 2 48915735 48915735 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 48915735 48915735 G T SNP LHCGR ENST00000294954 human ensembl 70_37 -1 known missense c.1201 p.L401I 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LSH_rcpt,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors LHCGR HGNC LIFR 3977 genome.wustl.edu 37 5 38506637 38506637 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 38506637 38506637 G A SNP LIFR ENST00000263409 human ensembl 70_37 -1 known silent c.1089 p.G363 0.998 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC LILRA2 11027 genome.wustl.edu 37 19 55085931 55085931 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 55085931 55085931 G T SNP LILRA2 ENST00000251377 human ensembl 70_37 +1 known missense c.234 p.K78N 0.001 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA2 HGNC LILRB2 10288 genome.wustl.edu 37 19 54783268 54783268 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 54783268 54783268 T C SNP LILRB2 ENST00000391749 human ensembl 70_37 -1 known missense c.590 p.Y197C 0.127 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LILRB2 HGNC LILRB4 11006 genome.wustl.edu 37 19 55175910 55175910 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 55175910 55175910 G A SNP LILRB4 ENST00000270452 human ensembl 70_37 +1 known missense c.629 p.S210N 0.376 pfscan_Ig-like pfam_Immunoglobulin,pfscan_Ig-like - no_errors LILRB4 HGNC LIMS1 3987 genome.wustl.edu 37 2 109237831 109237831 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 109237831 109237831 A C SNP LIMS1 ENST00000409441 human ensembl 70_37 +1 known missense c.21 p.K7N 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM - no_errors LIMS1 HGNC LINC00417 100874164 genome.wustl.edu 37 13 19315143 19315143 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 19315143 19315143 C A SNP LINC00417 ENST00000453176 human ensembl 70_37 -1 known rna NULL NULL 0.176 - - - no_errors LINC00417 HGNC LINC00521 256369 genome.wustl.edu 37 14 94464410 94464410 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 94464410 94464410 C T SNP LINC00521 ENST00000314629 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00521 HGNC LINC00574 80069 genome.wustl.edu 37 6 170201333 170201333 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 170201333 170201333 G T SNP LINC00574 ENST00000420557 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors LINC00574 HGNC LINC00634 339674 genome.wustl.edu 37 22 42354487 42354488 + RNA INS - - GAGA TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 42354487 42354488 - GAGA INS LINC00634 ENST00000381348 human ensembl 70_37 +1 known rna NULL NULL 0.030:0.088 - - - no_errors LINC00634 HGNC LINC00643 646113 genome.wustl.edu 37 14 62584910 62584910 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 62584910 62584910 G A SNP LINC00643 ENST00000555518 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors LINC00643 HGNC LINGO2 158038 genome.wustl.edu 37 9 27949151 27949151 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 27949151 27949151 G A SNP LINGO2 ENST00000308675 human ensembl 70_37 -1 known missense c.1519 p.R507C 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO2 HGNC LINS 55180 genome.wustl.edu 37 15 101120525 101120525 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 101120525 101120525 T G SNP LINS ENST00000314742 human ensembl 70_37 -1 known missense c.432 p.L144F 0.997 NULL NULL - no_errors LINS HGNC LINS 55180 genome.wustl.edu 37 15 101121044 101121044 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 101121044 101121044 T G SNP LINS ENST00000314742 human ensembl 70_37 -1 known missense c.4 p.K2Q 0.476 NULL NULL - no_errors LINS HGNC LIPE 3991 genome.wustl.edu 37 19 42930555 42930555 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 42930555 42930555 C T SNP LIPE ENST00000244289 human ensembl 70_37 -1 known silent c.747 p.T249 0.000 NULL pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC LIPH 200879 genome.wustl.edu 37 3 185232243 185232243 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 185232243 185232243 T G SNP LIPH ENST00000296252 human ensembl 70_37 -1 known missense c.1049 p.K350T 0.983 superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPH HGNC LMOD1 25802 genome.wustl.edu 37 1 201869359 201869359 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 201869359 201869359 T C SNP LMOD1 ENST00000367288 human ensembl 70_37 -1 known missense c.782 p.N261S 0.000 NULL pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC LMTK2 22853 genome.wustl.edu 37 7 97821550 97821550 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 97821550 97821550 G A SNP LMTK2 ENST00000297293 human ensembl 70_37 +1 known silent c.1773 p.A591 0.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC LMX1B 4010 genome.wustl.edu 37 9 129453255 129453255 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 129453255 129453255 T G SNP LMX1B ENST00000355497 human ensembl 70_37 +1 known missense c.467 p.F156C 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain - no_errors LMX1B HGNC LOC100131096 100131096 genome.wustl.edu 37 17 76105446 76105446 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 76105446 76105446 C T SNP LOC100131096 ENST00000374976 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-153A23.6 Clone_based_vega_gene LOC100132891 100132891 genome.wustl.edu 37 8 72967862 72967862 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 72967862 72967862 T C SNP LOC100132891 ENST00000457356 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-383H13.1 Clone_based_vega_gene LOC100289388 100289388 genome.wustl.edu 37 11 77884746 77884746 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 77884746 77884746 C T SNP LOC100289388 ENST00000530261 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-705O3.1 Clone_based_vega_gene LOC100506060 100506060 genome.wustl.edu 37 16 70253659 70253659 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 70253659 70253659 G T SNP LOC100506060 ENST00000573141 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-296I10.6 Clone_based_vega_gene LOC100507244 100507244 genome.wustl.edu 37 9 72785288 72785288 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 72785288 72785288 C T SNP LOC100507244 ENST00000448377 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-195E11.2 Clone_based_vega_gene LOC100507377 100507377 genome.wustl.edu 37 12 74686398 74686398 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 74686398 74686398 C A SNP LOC100507377 ENST00000515416 human ensembl 70_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-81H3.2 Clone_based_vega_gene LOC100507546 100507546 genome.wustl.edu 37 5 180625263 180625263 + RNA SNP G G C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 180625263 180625263 G C SNP LOC100507546 ENST00000502812 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors CTC-338M12.6 Clone_based_vega_gene LOC100653515 100653515 genome.wustl.edu 37 17 76886990 76886990 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 76886990 76886990 G T SNP LOC100653515 ENST00000322630 human ensembl 70_37 -1 putative silent c.1596 p.I532 0.000 NULL NULL - no_errors CTD-2373H9.6 Clone_based_vega_gene LOC100996331 100996331 genome.wustl.edu 37 15 21071460 21071460 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 21071460 21071460 C T SNP LOC100996331 ENST00000454856 human ensembl 70_37 -1 known missense c.151 p.D51N 0.034 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 POTEB Uniprot_genename LOC154761 154761 genome.wustl.edu 37 7 143510107 143510107 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 143510107 143510107 T G SNP LOC154761 ENST00000481651 human ensembl 70_37 -1 putative rna NULL NULL 0.333 - - - no_errors RP11-61L23.2 Clone_based_vega_gene LOC201651 201651 genome.wustl.edu 37 3 151491248 151491248 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 151491248 151491248 C A SNP LOC201651 ENST00000471766 human ensembl 70_37 +1 known rna NULL NULL 0.113 - - - no_errors RP11-64D22.2 Clone_based_vega_gene LOC645752 645752 genome.wustl.edu 37 15 78213884 78213884 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 78213884 78213884 C T SNP LOC645752 ENST00000567226 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-114H24.2 Clone_based_vega_gene LOC645752 645752 genome.wustl.edu 37 15 78213936 78213936 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 78213936 78213936 C A SNP LOC645752 ENST00000567226 human ensembl 70_37 -1 known rna NULL NULL 0.961 - - - no_errors RP11-114H24.2 Clone_based_vega_gene LOC646543 646543 genome.wustl.edu 37 11 133781791 133781791 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 133781791 133781791 C A SNP LOC646543 ENST00000564347 human ensembl 70_37 -1 putative missense c.141 p.K47N 1.000 NULL NULL - no_errors RP11-259P6.1 Clone_based_vega_gene LOC728741 728741 genome.wustl.edu 37 16 28354389 28354389 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 28354389 28354389 A G SNP LOC728741 ENST00000532254 human ensembl 70_37 -1 novel missense c.817 p.S273P 0.033 pfam_NPIP pfam_NPIP - no_errors A-575C2.4 Uniprot_genename LOC730441 730441 genome.wustl.edu 37 7 141969373 141969373 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 141969373 141969373 G A SNP LOC730441 ENST00000334288 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors U66059.29 Clone_based_vega_gene LPCAT2 54947 genome.wustl.edu 37 16 55562474 55562474 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 55562474 55562474 G A SNP LPCAT2 ENST00000262134 human ensembl 70_37 +1 known missense c.497 p.R166Q 0.670 pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase pfam_EF-hand,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors LPCAT2 HGNC LPCAT4 254531 genome.wustl.edu 37 15 34654791 34654791 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 34654791 34654791 A C SNP LPCAT4 ENST00000314891 human ensembl 70_37 -1 known silent c.867 p.V289 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors LPCAT4 HGNC LPHN2 23266 genome.wustl.edu 37 1 82302631 82302631 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 82302631 82302631 C A SNP LPHN2 ENST00000469377 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors LPHN2 HGNC LRCH2 57631 genome.wustl.edu 37 X 114391210 114391210 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 114391210 114391210 G T SNP LRCH2 ENST00000317135 human ensembl 70_37 -1 known missense c.1484 p.S495Y 0.986 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,superfamily_NA-bd_OB-fold-like,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH2 HGNC LRCH3 84859 genome.wustl.edu 37 3 197602611 197602611 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 197602611 197602611 T G SNP LRCH3 ENST00000438796 human ensembl 70_37 +1 known missense c.2173 p.F725V 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH3 HGNC LRFN2 57497 genome.wustl.edu 37 6 40359788 40359788 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 40359788 40359788 C T SNP LRFN2 ENST00000338305 human ensembl 70_37 -1 known missense c.2264 p.R755H 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN2 HGNC LRFN5 145581 genome.wustl.edu 37 14 42355841 42355841 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 42355841 42355841 C A SNP LRFN5 ENST00000298119 human ensembl 70_37 +1 known missense c.13 p.L5I 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRFN5 HGNC LRGUK 136332 genome.wustl.edu 37 7 133943057 133943057 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 133943057 133943057 T C SNP LRGUK ENST00000285928 human ensembl 70_37 +1 known silent c.2247 p.C749 0.000 NULL pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin - no_errors LRGUK HGNC LRIG2 9860 genome.wustl.edu 37 1 113667099 113667099 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 113667099 113667099 C T SNP LRIG2 ENST00000466161 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors LRIG2 HGNC LRP12 29967 genome.wustl.edu 37 8 105502517 105502517 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 105502517 105502517 G T SNP LRP12 ENST00000518375 human ensembl 70_37 -1 putative rna NULL NULL 1.000 - - - no_errors LRP12 HGNC LRP12 29967 genome.wustl.edu 37 8 105521183 105521183 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 105521183 105521183 C T SNP LRP12 ENST00000424843 human ensembl 70_37 -1 known missense c.199 p.E67K 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC LRP1B 53353 genome.wustl.edu 37 2 141625357 141625357 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 141625357 141625357 C A SNP LRP1B ENST00000389484 human ensembl 70_37 -1 known nonsense c.4381 p.E1461* 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP1B HGNC LRP2 4036 genome.wustl.edu 37 2 170063682 170063682 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 170063682 170063682 A G SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.6548 p.V2183A 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC LRP2 4036 genome.wustl.edu 37 2 170082995 170082995 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 170082995 170082995 T C SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.5331 p.I1777M 0.005 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC LRPAP1 4043 genome.wustl.edu 37 4 3516584 3516584 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 3516584 3516584 G A SNP LRPAP1 ENST00000500728 human ensembl 70_37 -1 known silent c.906 p.H302 0.947 pfam_Alpha_2_MRAP_C,superfamily_MG_RAP_rcpt_1 pfam_Alpha_2_MRAP_C,pfam_MG_RAP_rcpt_1,superfamily_MG_RAP_rcpt_1 - no_errors LRPAP1 HGNC LRPPRC 10128 genome.wustl.edu 37 2 44176759 44176759 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 44176759 44176759 C T SNP LRPPRC ENST00000260665 human ensembl 70_37 -1 known missense c.1717 p.E573K 0.925 NULL pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat - no_errors LRPPRC HGNC LRRC16A 55604 genome.wustl.edu 37 6 25620363 25620363 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 25620363 25620363 C A SNP LRRC16A ENST00000476458 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors LRRC16A HGNC LRRC16B 90668 genome.wustl.edu 37 14 24524340 24524340 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 24524340 24524340 C A SNP LRRC16B ENST00000342740 human ensembl 70_37 +1 known missense c.526 p.Q176K 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC LRRC29 26231 genome.wustl.edu 37 16 67260935 67260935 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 67260935 67260935 G T SNP LRRC29 ENST00000485549 human ensembl 70_37 -1 putative rna NULL NULL 0.051 - - - no_errors LRRC29 HGNC LRRC37A11P 342666 genome.wustl.edu 37 17 37186498 37186498 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 37186498 37186498 C T SNP LRRC37A11P ENST00000425901 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors LRRC37A11P HGNC LRRC37A3 374819 genome.wustl.edu 37 17 62892841 62892841 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 62892841 62892841 T C SNP LRRC37A3 ENST00000319651 human ensembl 70_37 -1 known missense c.535 p.T179A 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC LRRC37A6P 387646 genome.wustl.edu 37 10 27539436 27539436 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 27539436 27539436 G T SNP LRRC37A6P ENST00000284414 human ensembl 70_37 -1 known rna NULL NULL 0.668 - - - no_errors LRRC37A6P HGNC LRRC37A6P 387646 genome.wustl.edu 37 10 27540637 27540637 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 27540637 27540637 G T SNP LRRC37A6P ENST00000574795 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors LRRC37A6P HGNC LRRC39 127495 genome.wustl.edu 37 1 100626100 100626100 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 100626100 100626100 T C SNP LRRC39 ENST00000370138 human ensembl 70_37 -1 known silent c.141 p.V47 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC39 HGNC LRRC48 83450 genome.wustl.edu 37 17 17919381 17919381 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 17919381 17919381 T C SNP LRRC48 ENST00000313838 human ensembl 70_37 +1 known missense c.1330 p.F444L 0.997 NULL NULL - no_errors LRRC48 HGNC LRRC53 100144878 genome.wustl.edu 37 1 74945841 74945841 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 74945841 74945841 G A SNP LRRC53 ENST00000294635 human ensembl 70_37 -1 known silent c.900 p.F300 0.998 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC53 HGNC LRRC69 100130742 genome.wustl.edu 37 8 92213000 92213000 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 92213000 92213000 C T SNP LRRC69 ENST00000343709 human ensembl 70_37 +1 known nonsense c.445 p.R149* 0.029 NULL NULL - no_errors LRRC69 HGNC LRRIQ3 127255 genome.wustl.edu 37 1 74492633 74492633 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 74492633 74492633 C A SNP LRRIQ3 ENST00000354431 human ensembl 70_37 -1 known missense c.1739 p.R580I 0.685 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC LRRN1 57633 genome.wustl.edu 37 3 3888399 3888399 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 3888399 3888399 A C SNP LRRN1 ENST00000319331 human ensembl 70_37 +1 known missense c.2074 p.S692R 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRRN1 HGNC LRRN4 164312 genome.wustl.edu 37 20 6025204 6025204 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 6025204 6025204 C A SNP LRRN4 ENST00000378858 human ensembl 70_37 -1 known missense c.983 p.R328I 0.014 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC LRRTM3 347731 genome.wustl.edu 37 10 68687033 68687033 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 68687033 68687033 G T SNP LRRTM3 ENST00000361320 human ensembl 70_37 +1 known missense c.359 p.R120I 1.000 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 LRRTM3 HGNC LRTM2 654429 genome.wustl.edu 37 12 1944744 1944744 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 1944744 1944744 A G SNP LRTM2 ENST00000543730 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors LRTM2 HGNC LSS 4047 genome.wustl.edu 37 21 47647571 47647571 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 47647571 47647571 T G SNP LSS ENST00000356396 human ensembl 70_37 -1 known missense c.214 p.T72P 0.993 NULL pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC LTBP1 4052 genome.wustl.edu 37 2 33335744 33335744 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 33335744 33335744 T G SNP LTBP1 ENST00000354476 human ensembl 70_37 +1 known missense c.959 p.I320S 0.312 NULL pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors LTBP1 HGNC LTN1 26046 genome.wustl.edu 37 21 30358482 30358482 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 30358482 30358482 C A SNP LTN1 ENST00000361371 human ensembl 70_37 -1 known missense c.323 p.R108I 1.000 superfamily_ARM-type_fold pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC LUZP2 338645 genome.wustl.edu 37 11 24759791 24759791 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 24759791 24759791 G A SNP LUZP2 ENST00000336930 human ensembl 70_37 +1 known silent c.276 p.E92 0.999 NULL NULL - no_errors LUZP2 HGNC LY6K 54742 genome.wustl.edu 37 8 143784515 143784515 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 143784515 143784515 T G SNP LY6K ENST00000561179 human ensembl 70_37 +1 known missense c.398 p.F133C 0.009 NULL NULL - no_errors LY6K HGNC LY75 4065 genome.wustl.edu 37 2 160728989 160728989 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 160728989 160728989 A C SNP LY75 ENST00000554112 human ensembl 70_37 -1 known missense c.2090 p.F697C 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC LY75 4065 genome.wustl.edu 37 2 160735169 160735169 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 160735169 160735169 T G SNP LY75 ENST00000554112 human ensembl 70_37 -1 known missense c.1579 p.N527H 0.964 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC LYG1 129530 genome.wustl.edu 37 2 99907879 99907879 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 99907879 99907879 G A SNP LYG1 ENST00000308528 human ensembl 70_37 -1 known missense c.154 p.R52C 0.912 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 - no_errors LYG1 HGNC MAATS1 89876 genome.wustl.edu 37 3 119449158 119449158 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 119449158 119449158 C T SNP MAATS1 ENST00000273390 human ensembl 70_37 +1 known missense c.952 p.R318W 0.959 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC MACC1 346389 genome.wustl.edu 37 7 20198624 20198624 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 20198624 20198624 C A SNP MACC1 ENST00000332878 human ensembl 70_37 -1 known nonsense c.1360 p.E454* 1.000 NULL pfam_SH3_2,superfamily_DEATH-like - no_errors MACC1 HGNC MACF1 23499 genome.wustl.edu 37 1 39934326 39934326 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 39934326 39934326 C T SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known missense c.15616 p.R5206C 1.000 pfam_GAS2_dom,superfamily_GAS2_dom,smart_GAS2_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC MAGEB1 4112 genome.wustl.edu 37 X 30268673 30268673 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 30268673 30268673 G T SNP MAGEB1 ENST00000378981 human ensembl 70_37 +1 known missense c.63 p.E21D 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC MAGEC1 9947 genome.wustl.edu 37 X 140993495 140993495 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 140993495 140993495 C A SNP MAGEC1 ENST00000285879 human ensembl 70_37 +1 known missense c.305 p.S102Y 0.961 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC MAGEC1 9947 genome.wustl.edu 37 X 140994167 140994167 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 140994167 140994167 C T SNP MAGEC1 ENST00000285879 human ensembl 70_37 +1 known missense c.977 p.T326I 0.016 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC MAGEE1 57692 genome.wustl.edu 37 X 75648352 75648352 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 75648352 75648352 G A SNP MAGEE1 ENST00000361470 human ensembl 70_37 +1 known missense c.29 p.R10H 0.988 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC MAGEE2 139599 genome.wustl.edu 37 X 75004134 75004134 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 75004134 75004134 G T SNP MAGEE2 ENST00000373359 human ensembl 70_37 -1 known missense c.753 p.F251L 0.428 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEE2 HGNC MAGI3 260425 genome.wustl.edu 37 1 114128120 114128120 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 114128120 114128120 G A SNP MAGI3 ENST00000369611 human ensembl 70_37 +1 known missense c.665 p.R222Q 1.000 smart_Guanylate_kin/L-typ_Ca_channel 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 MAGI3 HGNC MAGOHB 55110 genome.wustl.edu 37 12 10762486 10762486 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 10762486 10762486 C A SNP MAGOHB ENST00000320756 human ensembl 70_37 -1 known nonsense c.208 p.E70* 1.000 pfam_Mago_nashi,superfamily_Mago_nashi pfam_Mago_nashi,superfamily_Mago_nashi - no_errors MAGOHB HGNC MAN2A1 4124 genome.wustl.edu 37 5 109110644 109110644 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 109110644 109110644 C A SNP MAN2A1 ENST00000261483 human ensembl 70_37 +1 known missense c.1352 p.S451Y 1.000 pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl 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 MAN2A1 HGNC MAP1B 4131 genome.wustl.edu 37 5 71493364 71493364 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 71493364 71493364 T G SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known silent c.4182 p.V1394 0.021 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC MAP1B 4131 genome.wustl.edu 37 5 71495218 71495218 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 71495218 71495218 G T SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known missense c.6036 p.E2012D 1.000 pfam_MAP1B_neuraxin pfam_MAP1B_neuraxin - no_errors MAP1B HGNC MAP2 4133 genome.wustl.edu 37 2 210559578 210559578 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 210559578 210559578 C T SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known missense c.2684 p.T895I 0.984 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC MAP2 4133 genome.wustl.edu 37 2 210594630 210594630 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 210594630 210594630 G T SNP MAP2 ENST00000360351 human ensembl 70_37 +1 known missense c.5212 p.A1738S 1.000 pfam_Tau/MAP_tubulin-bd_rpt pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC MAP3K14 9020 genome.wustl.edu 37 17 43340693 43340693 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 43340693 43340693 T C SNP MAP3K14 ENST00000344686 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MAP3K14 HGNC MAP3K15 389840 genome.wustl.edu 37 X 19418734 19418734 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 19418734 19418734 G A SNP MAP3K15 ENST00000338883 human ensembl 70_37 -1 known missense c.1892 p.T631M 0.060 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K15 HGNC MAP3K19 80122 genome.wustl.edu 37 2 135743751 135743751 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 135743751 135743751 T C SNP MAP3K19 ENST00000375845 human ensembl 70_37 -1 known silent c.2691 p.S897 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K19 HGNC MAP3K19 80122 genome.wustl.edu 37 2 135756394 135756394 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 135756394 135756394 C A SNP MAP3K19 ENST00000375845 human ensembl 70_37 -1 known missense c.488 p.R163I 0.835 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 MAP3K19 HGNC MAP3K4 4216 genome.wustl.edu 37 6 161470031 161470031 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 161470031 161470031 G T SNP MAP3K4 ENST00000392142 human ensembl 70_37 +1 known missense c.727 p.D243Y 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K4 HGNC MAP3K5 4217 genome.wustl.edu 37 6 137041623 137041623 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 137041623 137041623 A C SNP MAP3K5 ENST00000359015 human ensembl 70_37 -1 known missense c.553 p.C185G 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,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 MAP3K5 HGNC MAP4K4 9448 genome.wustl.edu 37 2 102501684 102501684 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 102501684 102501684 T G SNP MAP4K4 ENST00000324219 human ensembl 70_37 +1 known missense c.3364 p.L1122V 0.996 pfam_Citron,smart_Citron pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors MAP4K4 HGNC MAP7 9053 genome.wustl.edu 37 6 136683707 136683707 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 136683707 136683707 A C SNP MAP7 ENST00000454590 human ensembl 70_37 -1 known silent c.1473 p.T491 0.992 pfam_E-MAP-115 pfam_E-MAP-115 - no_errors MAP7 HGNC MAP7D3 79649 genome.wustl.edu 37 X 135323432 135323432 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 135323432 135323432 T G SNP MAP7D3 ENST00000370663 human ensembl 70_37 -1 known missense c.368 p.K123T 0.000 NULL pfam_E-MAP-115 - no_errors MAP7D3 HGNC MAP9 79884 genome.wustl.edu 37 4 156296145 156296145 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 156296145 156296145 C T SNP MAP9 ENST00000311277 human ensembl 70_37 -1 known missense c.104 p.R35H 0.987 NULL NULL - no_errors MAP9 HGNC MAPK6 5597 genome.wustl.edu 37 15 52338060 52338060 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 52338060 52338060 T G SNP MAPK6 ENST00000558063 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors MAPK6 HGNC MBD4 8930 genome.wustl.edu 37 3 129155555 129155555 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 129155555 129155555 T G SNP MBD4 ENST00000249910 human ensembl 70_37 -1 known missense c.932 p.K311T 0.005 pirsf_Me_CpG-bd_MBD4 pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_integrase-typ,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd - no_errors MBD4 HGNC MBD5 55777 genome.wustl.edu 37 2 149226300 149226300 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 149226300 149226300 C A SNP MBD5 ENST00000407073 human ensembl 70_37 +1 known missense c.788 p.S263Y 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP - no_errors MBD5 HGNC MC5R 4161 genome.wustl.edu 37 18 13825791 13825791 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 13825791 13825791 C A SNP MC5R ENST00000324750 human ensembl 70_37 +1 known missense c.27 p.F9L 0.806 prints_Melancort_rcpt_5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melancort_rcpt_5,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC5R HGNC MCF2L2 23101 genome.wustl.edu 37 3 182933869 182933869 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 182933869 182933869 C A SNP MCF2L2 ENST00000328913 human ensembl 70_37 -1 known missense c.2384 p.R795I 0.858 superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain 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 MCF2L2 HGNC MCM8 84515 genome.wustl.edu 37 20 5965590 5965590 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 5965590 5965590 T C SNP MCM8 ENST00000378886 human ensembl 70_37 +1 known missense c.2017 p.S673P 0.991 pfam_MCM_DNA-dep_ATPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM8 HGNC MCM9 254394 genome.wustl.edu 37 6 119136036 119136036 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 119136036 119136036 T C SNP MCM9 ENST00000316316 human ensembl 70_37 -1 known missense c.3383 p.D1128G 1.000 NULL pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold-like,smart_MCM_DNA-dep_ATPase,smart_AAA+_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase - no_errors MCM9 HGNC MDGA2 161357 genome.wustl.edu 37 14 47601038 47601038 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 47601038 47601038 C A SNP MDGA2 ENST00000399232 human ensembl 70_37 -1 known missense c.804 p.K268N 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like - no_errors MDGA2 HGNC MDH1B 130752 genome.wustl.edu 37 2 207622051 207622051 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 207622051 207622051 C A SNP MDH1B ENST00000374412 human ensembl 70_37 -1 known missense c.180 p.K60N 0.002 NULL pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C - no_errors MDH1B HGNC MDM2 4193 genome.wustl.edu 37 12 69210688 69210688 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 69210688 69210688 T G SNP MDM2 ENST00000462284 human ensembl 70_37 +1 known missense c.271 p.L91V 0.996 pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4 pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM2 HGNC MDN1 23195 genome.wustl.edu 37 6 90394655 90394655 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 90394655 90394655 G T SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.11769 p.F3923L 1.000 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 ME1 4199 genome.wustl.edu 37 6 83933564 83933564 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 83933564 83933564 G T SNP ME1 ENST00000369705 human ensembl 70_37 -1 known missense c.1364 p.S455Y 1.000 pfam_Malic_NAD-bd,smart_Malic_NAD-bd pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME1 HGNC ME2 4200 genome.wustl.edu 37 18 48446854 48446854 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 48446854 48446854 G A SNP ME2 ENST00000321341 human ensembl 70_37 +1 known missense c.763 p.E255K 1.000 pfam_Malic_N,prints_Malic_OxRdtase pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME2 HGNC MECR 51102 genome.wustl.edu 37 1 29533354 29533354 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 29533354 29533354 G A SNP MECR ENST00000263702 human ensembl 70_37 -1 known missense c.470 p.P157L 1.000 superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors MECR HGNC MED11 400569 genome.wustl.edu 37 17 4634813 4634813 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 4634813 4634813 G T SNP MED11 ENST00000293777 human ensembl 70_37 +1 known missense c.29 p.R10I 1.000 pfam_Mediator_Med11 pfam_Mediator_Med11 - no_errors MED11 HGNC MED12 9968 genome.wustl.edu 37 X 70357069 70357069 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 70357069 70357069 C T SNP MED12 ENST00000333646 human ensembl 70_37 +1 known missense c.5584 p.R1862C 0.993 pfam_Mediator_Med12_catenin-bd pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC MED14 9282 genome.wustl.edu 37 X 40518558 40518558 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 40518558 40518558 G A SNP MED14 ENST00000324817 human ensembl 70_37 -1 known missense c.3893 p.T1298M 1.000 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC MED14 9282 genome.wustl.edu 37 X 40539379 40539379 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 40539379 40539379 A G SNP MED14 ENST00000324817 human ensembl 70_37 -1 known missense c.2617 p.F873L 0.990 NULL pfam_Mediator_Med14 - no_errors MED14 HGNC MED22 6837 genome.wustl.edu 37 9 136208531 136208531 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 136208531 136208531 C T SNP MED22 ENST00000343730 human ensembl 70_37 -1 known missense c.427 p.E143K 1.000 NULL pfam_Mediator_Med22 - no_errors MED22 HGNC MEF2C 4208 genome.wustl.edu 37 5 88100485 88100485 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 88100485 88100485 T C SNP MEF2C ENST00000437473 human ensembl 70_37 -1 known missense c.188 p.D63G 1.000 superfamily_TF_MADSbox pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2C HGNC MEFV 4210 genome.wustl.edu 37 16 3304167 3304167 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 3304167 3304167 A C SNP MEFV ENST00000219596 human ensembl 70_37 -1 known missense c.901 p.S301A 0.001 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC MEGF8 1954 genome.wustl.edu 37 19 42873722 42873722 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 42873722 42873722 C T SNP MEGF8 ENST00000251268 human ensembl 70_37 +1 known silent c.6681 p.C2227 0.823 smart_EG-like_dom pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EG-like_dom,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC MEIG1 644890 genome.wustl.edu 37 10 15028921 15028921 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 15028921 15028921 C T SNP MEIG1 ENST00000467536 human ensembl 70_37 +1 known rna NULL NULL 0.873 - - - no_errors MEIG1 HGNC MEIS2 4212 genome.wustl.edu 37 15 37388629 37388629 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 37388629 37388629 T G SNP MEIS2 ENST00000561208 human ensembl 70_37 -1 known missense c.248 p.H83P 1.000 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors MEIS2 HGNC MEP1A 4224 genome.wustl.edu 37 6 46803277 46803277 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 46803277 46803277 C T SNP MEP1A ENST00000230588 human ensembl 70_37 +1 known missense c.2075 p.A692V 0.982 pfam_EG-like_dom,pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC MEP1B 4225 genome.wustl.edu 37 18 29793309 29793309 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 29793309 29793309 T G SNP MEP1B ENST00000269202 human ensembl 70_37 +1 known missense c.1366 p.S456A 0.707 pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_Pept_M12A_Meprin,pfscan_MATH pfam_Peptidase_M12A,pfam_MAM_dom,pfam_MATH,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,pirsf_Pept_M12A_Meprin,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom,prints_Peptidase_M12A,prints_MAM_dom - no_errors MEP1B HGNC METTL20 254013 genome.wustl.edu 37 12 31815034 31815034 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 31815034 31815034 T C SNP METTL20 ENST00000357721 human ensembl 70_37 +1 known silent c.147 p.A49 0.829 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL20 HGNC MFGE8 4240 genome.wustl.edu 37 15 89449895 89449895 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 89449895 89449895 C T SNP MFGE8 ENST00000268150 human ensembl 70_37 -1 known missense c.502 p.E168K 0.000 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_EG-like_dom,superfamily_Galactose-bd-like,smart_EG-like_dom,smart_Coagulation_fac_5/8-C_type_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors MFGE8 HGNC MFSD11 79157 genome.wustl.edu 37 17 74735047 74735047 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 74735047 74735047 A G SNP MFSD11 ENST00000336509 human ensembl 70_37 +1 known missense c.124 p.T42A 1.000 pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD11 HGNC MGA 23269 genome.wustl.edu 37 15 42042106 42042106 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 42042106 42042106 T G SNP MGA ENST00000219905 human ensembl 70_37 +1 known missense c.6301 p.L2101V 0.000 NULL pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC MGA 23269 genome.wustl.edu 37 15 42058580 42058580 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 42058580 42058580 G T SNP MGA ENST00000219905 human ensembl 70_37 +1 known missense c.8300 p.R2767I 1.000 NULL pfam_TF_T-box,pfam_HLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_dom,smart_TF_T-box,smart_HLH_dom,pfscan_HLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC MGAT5 4249 genome.wustl.edu 37 2 135160633 135160633 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 135160633 135160633 G T SNP MGAT5 ENST00000281923 human ensembl 70_37 +1 known missense c.1455 p.K485N 0.996 NULL NULL - no_errors MGAT5 HGNC MICAL2 9645 genome.wustl.edu 37 11 12183914 12183914 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 12183914 12183914 A C SNP MICAL2 ENST00000256194 human ensembl 70_37 +1 known missense c.212 p.K71T 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC MICAL2 9645 genome.wustl.edu 37 11 12281400 12281400 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 12281400 12281400 C A SNP MICAL2 ENST00000256194 human ensembl 70_37 +1 known missense c.3290 p.S1097Y 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC MIR124-3 406909 genome.wustl.edu 37 20 61809894 61809894 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 61809894 61809894 T C SNP MIR124-3 ENST00000384866 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR124-3 HGNC MIR1302-3 100302128 genome.wustl.edu 37 2 114340638 114340638 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 114340638 114340638 C T SNP MIR1302-3 ENST00000408128 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR1302-3 HGNC MIR137HG 400765 genome.wustl.edu 37 1 98515117 98515117 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 98515117 98515117 C T SNP MIR137HG ENST00000424528 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR137HG HGNC MIR1468 100302115 genome.wustl.edu 37 X 63005939 63005939 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 63005939 63005939 G A SNP MIR1468 ENST00000410600 human ensembl 70_37 -1 known rna NULL NULL 0.094 - - - no_errors MIR1468 HGNC MIR369 442914 genome.wustl.edu 37 14 101531976 101531976 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 101531976 101531976 C T SNP MIR369 ENST00000362155 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR369 HGNC MIR4325 100422883 genome.wustl.edu 37 20 55896644 55896644 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 55896644 55896644 C T SNP MIR4325 ENST00000583049 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors MIR4325 HGNC MIR539 664612 genome.wustl.edu 37 14 101513678 101513678 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 101513678 101513678 C T SNP MIR539 ENST00000365690 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR539 HGNC MIR570 693155 genome.wustl.edu 37 3 195426281 195426281 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 195426281 195426281 T G SNP MIR570 ENST00000384917 human ensembl 70_37 +1 known rna NULL NULL 0.012 - - - no_errors MIR570 HGNC MIR676 100500887 genome.wustl.edu 37 X 69242715 69242715 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 69242715 69242715 C A SNP MIR676 ENST00000390702 human ensembl 70_37 +1 known rna NULL NULL 0.966 - - - no_errors MIR676 HGNC MIR7-2 407044 genome.wustl.edu 37 15 89155061 89155061 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 89155061 89155061 T C SNP MIR7-2 ENST00000384970 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR7-2 HGNC MIR892B 100126307 genome.wustl.edu 37 X 145078734 145078734 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 145078734 145078734 G T SNP MIR892B ENST00000401279 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR892B HGNC MIR9-2 407047 genome.wustl.edu 37 5 87962739 87962739 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 87962739 87962739 A C SNP MIR9-2 ENST00000384838 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR9-2 HGNC MIS18A 54069 genome.wustl.edu 37 21 33642063 33642063 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 33642063 33642063 A C SNP MIS18A ENST00000290130 human ensembl 70_37 -1 known silent c.576 p.L192 1.000 NULL NULL - no_errors MIS18A HGNC MKI67 4288 genome.wustl.edu 37 10 129904435 129904435 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 129904435 129904435 A C SNP MKI67 ENST00000368654 human ensembl 70_37 -1 known missense c.5669 p.F1890C 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC MKI67 4288 genome.wustl.edu 37 10 129909845 129909845 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 129909845 129909845 A C SNP MKI67 ENST00000484853 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MKI67 HGNC MLF1IP 79682 genome.wustl.edu 37 4 185622015 185622015 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 185622015 185622015 C A SNP MLF1IP ENST00000281453 human ensembl 70_37 -1 known missense c.945 p.K315N 1.000 NULL NULL - no_errors MLF1IP HGNC MLH3 27030 genome.wustl.edu 37 14 75513429 75513429 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 75513429 75513429 G T SNP MLH3 ENST00000355774 human ensembl 70_37 -1 known missense c.2930 p.S977Y 0.000 NULL pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C - no_errors MLH3 HGNC MLH3 27030 genome.wustl.edu 37 14 75515647 75515647 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 75515647 75515647 A C SNP MLH3 ENST00000355774 human ensembl 70_37 -1 known missense c.712 p.Y238D 1.000 pfam_DNA_mismatch_repair_C,superfamily_Ribosomal_S5_D2-typ_fold pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C - no_errors MLH3 HGNC MLKL 197259 genome.wustl.edu 37 16 74729369 74729369 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 74729369 74729369 A G SNP MLKL ENST00000308807 human ensembl 70_37 -1 known missense c.287 p.I96T 0.101 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLKL HGNC KMT2D 8085 genome.wustl.edu 37 12 49447074 49447074 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 49447074 49447074 A C SNP MLL2 ENST00000301067 human ensembl 70_37 -1 known silent c.870 p.V290 0.896 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL2 HGNC MLX 6945 genome.wustl.edu 37 17 40721303 40721303 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 40721303 40721303 G A SNP MLX ENST00000246912 human ensembl 70_37 +1 known missense c.520 p.A174T 1.000 pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MLX HGNC MMAA 166785 genome.wustl.edu 37 4 146560411 146560411 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 146560411 146560411 T C SNP MMAA ENST00000281317 human ensembl 70_37 +1 known silent c.120 p.C40 0.004 NULL pfam_ArgK,pfam_CobW/HypB/UreG_dom,tigrfam_ArgK - no_errors MMAA HGNC MMD2 221938 genome.wustl.edu 37 7 4959852 4959852 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 4959852 4959852 G A SNP MMD2 ENST00000404774 human ensembl 70_37 -1 known silent c.240 p.F80 0.966 pfam_HlyIII-related pfam_HlyIII-related - no_errors MMD2 HGNC MME 4311 genome.wustl.edu 37 3 154866381 154866381 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 154866381 154866381 A C SNP MME ENST00000360490 human ensembl 70_37 +1 known missense c.1540 p.N514H 1.000 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MME HGNC MMP10 4319 genome.wustl.edu 37 11 102649479 102649479 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 102649479 102649479 T C SNP MMP10 ENST00000279441 human ensembl 70_37 -1 known silent c.498 p.E166 0.984 pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin pirsf_Pept_M10A_matrix_strom,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP10 HGNC MMP16 4325 genome.wustl.edu 37 8 89180150 89180150 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 89180150 89180150 G A SNP MMP16 ENST00000286614 human ensembl 70_37 -1 known missense c.457 p.R153C 1.000 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin - no_errors MMP16 HGNC MMP7 4316 genome.wustl.edu 37 11 102398628 102398628 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 102398628 102398628 G T SNP MMP7 ENST00000260227 human ensembl 70_37 -1 known missense c.195 p.F65L 1.000 pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pfam_Pept_M10_metallopeptidase,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,prints_Pept_M10A_matrixin - no_errors MMP7 HGNC MNS1 55329 genome.wustl.edu 37 15 56748670 56748670 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 56748670 56748670 T G SNP MNS1 ENST00000260453 human ensembl 70_37 -1 known missense c.275 p.K92T 0.973 NULL NULL - no_errors MNS1 HGNC MOAP1 64112 genome.wustl.edu 37 14 93649544 93649544 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 93649544 93649544 A C SNP MOAP1 ENST00000298894 human ensembl 70_37 -1 known silent c.1044 p.G348 0.000 NULL NULL - no_errors MOAP1 HGNC MON2 23041 genome.wustl.edu 37 12 62860941 62860941 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 62860941 62860941 A C SNP MON2 ENST00000549378 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MON2 HGNC MORC2 22880 genome.wustl.edu 37 22 31354670 31354670 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 31354670 31354670 C T SNP MORC2 ENST00000397641 human ensembl 70_37 -1 known missense c.79 p.E27K 1.000 superfamily_ATPase-like_ATP-bd pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW - no_errors MORC2 HGNC MORC3 23515 genome.wustl.edu 37 21 37717218 37717218 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 37717218 37717218 A C SNP MORC3 ENST00000400485 human ensembl 70_37 +1 known silent c.894 p.T298 0.156 NULL pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC MORC4 79710 genome.wustl.edu 37 X 106186381 106186381 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 106186381 106186381 C A SNP MORC4 ENST00000355610 human ensembl 70_37 -1 known missense c.1740 p.Q580H 0.978 NULL pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW - no_errors MORC4 HGNC MORC4 79710 genome.wustl.edu 37 X 106199763 106199763 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 106199763 106199763 C A SNP MORC4 ENST00000355610 human ensembl 70_37 -1 known nonsense c.1456 p.E486* 1.000 NULL pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Prefoldin,pfscan_Znf_CW - no_errors MORC4 HGNC MOV10 4343 genome.wustl.edu 37 1 113217660 113217660 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 113217660 113217660 C A SNP MOV10 ENST00000357443 human ensembl 70_37 +1 known missense c.126 p.D42E 0.989 NULL NULL - no_errors MOV10 HGNC MPHOSPH9 10198 genome.wustl.edu 37 12 123706423 123706423 + Missense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 123706423 123706423 T A SNP MPHOSPH9 ENST00000538169 human ensembl 70_37 -1 novel missense c.285 p.K95N 0.868 NULL NULL - no_errors MPHOSPH9 HGNC MPPED2 744 genome.wustl.edu 37 11 30516990 30516990 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 30516990 30516990 A G SNP MPPED2 ENST00000358117 human ensembl 70_37 -1 known missense c.389 p.L130P 1.000 pfam_Metallo_PEstase_dom pfam_Metallo_PEstase_dom - no_errors MPPED2 HGNC MRPL22 29093 genome.wustl.edu 37 5 154330435 154330435 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 154330435 154330435 A C SNP MRPL22 ENST00000523037 human ensembl 70_37 +1 known missense c.132 p.K44N 0.797 NULL pfam_Ribosomal_L22,superfamily_Ribosomal_L22 - no_errors MRPL22 HGNC MRPS15 64960 genome.wustl.edu 37 1 36926863 36926863 + Splice_Site SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 36926863 36926863 A C SNP MRPS15 ENST00000373116 human ensembl 70_37 -1 known splice_site c.300+2 e4+2 1.000 - - - no_errors MRPS15 HGNC MSH6 2956 genome.wustl.edu 37 2 48032840 48032840 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 48032840 48032840 G T SNP MSH6 ENST00000234420 human ensembl 70_37 +1 known nonsense c.3640 p.E1214* 1.000 pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mismatch_repair_MutS_connt,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mismatch_repair_MutS_connt,smart_PWWP,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP - no_errors MSH6 HGNC MSL3P1 151507 genome.wustl.edu 37 2 234775110 234775110 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 234775110 234775110 A G SNP MSL3P1 ENST00000438684 human ensembl 70_37 -1 known rna NULL NULL 0.041 - - - no_errors MSL3P1 HGNC MSLN 10232 genome.wustl.edu 37 16 815696 815696 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 815696 815696 C T SNP MSLN ENST00000382862 human ensembl 70_37 +1 known silent c.801 p.I267 0.001 pfam_Mesothelin pfam_Mesothelin - no_errors MSLN HGNC MSR1 4481 genome.wustl.edu 37 8 16007814 16007814 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 16007814 16007814 G A SNP MSR1 ENST00000262101 human ensembl 70_37 -1 known missense c.905 p.P302L 1.000 pfam_Collagen pfam_Srcr_rcpt,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors MSR1 HGNC MSR1 4481 genome.wustl.edu 37 8 16032763 16032763 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 16032763 16032763 T G SNP MSR1 ENST00000262101 human ensembl 70_37 -1 known missense c.150 p.K50N 0.148 prints_Macro_scav_rcpt pfam_Srcr_rcpt,pfam_Macro_scav_rcpt,pfam_Collagen,superfamily_Srcr_rcpt-rel,superfamily_STAT_TF_coiled-coil,smart_Srcr_rcpt-rel,prints_Macro_scav_rcpt,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors MSR1 HGNC MST4 51765 genome.wustl.edu 37 X 131202297 131202297 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 131202297 131202297 T G SNP MST4 ENST00000394334 human ensembl 70_37 +1 known missense c.385 p.L129V 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST4 Uniprot_genename MT1H 4496 genome.wustl.edu 37 16 56704827 56704827 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 56704827 56704827 C A SNP MT1H ENST00000332374 human ensembl 70_37 +1 known missense c.112 p.P38T 0.967 pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert pfam_Metalthion_sfam_euk,superfamily_Metalthion_dom,prints_Metalthion_vert - no_errors MT1H HGNC MTERF 7978 genome.wustl.edu 37 7 91504019 91504019 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 91504019 91504019 C A SNP MTERF ENST00000351870 human ensembl 70_37 -1 known missense c.89 p.R30I 0.996 NULL pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERF HGNC MTF2 22823 genome.wustl.edu 37 1 93583965 93583965 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 93583965 93583965 A G SNP MTF2 ENST00000370298 human ensembl 70_37 +1 known silent c.696 p.Q232 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MTF2 HGNC MTIF2 4528 genome.wustl.edu 37 2 55479767 55479767 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 55479767 55479767 C A SNP MTIF2 ENST00000263629 human ensembl 70_37 -1 known missense c.687 p.K229N 1.000 pfam_EF_GTP-bd_dom,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,tigrfam_Small_GTP-bd_dom pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_TIF_IF2_dom3,superfamily_Transl_elong_init/rib_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC MTM1 4534 genome.wustl.edu 37 X 149767133 149767133 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 149767133 149767133 T G SNP MTM1 ENST00000370396 human ensembl 70_37 +1 known missense c.214 p.L72V 1.000 pfam_GRAM,smart_GRAM pfam_Myotub-related,pfam_GRAM,smart_GRAM,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase - no_errors MTM1 HGNC MTNR1A 4543 genome.wustl.edu 37 4 187455702 187455702 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 187455702 187455702 A G SNP MTNR1A ENST00000307161 human ensembl 70_37 -1 known missense c.194 p.F65S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C - no_errors MTNR1A HGNC MTOR 2475 genome.wustl.edu 37 1 11184573 11184573 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 11184573 11184573 G T SNP MTOR ENST00000361445 human ensembl 70_37 -1 known missense c.6644 p.S2215Y 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC MTPAP 55149 genome.wustl.edu 37 10 30654113 30654113 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 30654113 30654113 C T SNP MTPAP ENST00000358107 human ensembl 70_37 -1 known silent c.150 p.S50 1.000 NULL pfam_PAP_assoc - no_errors MTPAP HGNC MTPAP 55149 genome.wustl.edu 37 10 30657359 30657359 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 30657359 30657359 C A SNP MTPAP ENST00000471055 human ensembl 70_37 -1 known rna NULL NULL 0.061 - - - no_errors MTPAP HGNC MTUS2-AS1 100874107 genome.wustl.edu 37 13 30059412 30059412 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 30059412 30059412 C A SNP MTUS2-AS1 ENST00000323380 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors MTUS2-AS1 HGNC MUC12 10071 genome.wustl.edu 37 7 100634053 100634053 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 100634053 100634053 A G SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known missense c.638 p.D213G 0.012 NULL pfam_SEA - no_errors MUC12 HGNC MUC12 10071 genome.wustl.edu 37 7 100648305 100648305 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 100648305 100648305 G T SNP MUC12 ENST00000379442 human ensembl 70_37 +1 known nonsense c.14890 p.E4964* 0.005 NULL pfam_SEA - no_errors MUC12 HGNC MUC16 94025 genome.wustl.edu 37 19 9064235 9064235 + Missense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 9064235 9064235 T A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.23211 p.E7737D 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9070320 9070320 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 9070320 9070320 G T SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.17126 p.A5709D 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC19 283463 genome.wustl.edu 37 12 40925803 40925803 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 40925803 40925803 G A SNP MUC19 ENST00000474954 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MUC19 HGNC MUC4 4585 genome.wustl.edu 37 3 195515052 195515052 + Missense_Mutation SNP G G C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 195515052 195515052 G C SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known missense c.3399 p.H1133Q 0.001 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC4 4585 genome.wustl.edu 37 3 195517019 195517019 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 195517019 195517019 C A SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known nonsense c.1432 p.E478* 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC MUC5B 727897 genome.wustl.edu 37 11 1253309 1253309 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 1253309 1253309 G A SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.1771 p.A591T 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MUC5B 727897 genome.wustl.edu 37 11 1273616 1273616 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 1273616 1273616 C A SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.14916 p.F4972L 0.304 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC MUM1L1 139221 genome.wustl.edu 37 X 105449951 105449951 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 105449951 105449951 G A SNP MUM1L1 ENST00000337685 human ensembl 70_37 +1 known missense c.526 p.D176N 0.000 NULL superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MUM1L1 HGNC MUM1L1 139221 genome.wustl.edu 37 X 105451316 105451316 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 105451316 105451316 G T SNP MUM1L1 ENST00000337685 human ensembl 70_37 +1 known missense c.1891 p.D631Y 0.982 superfamily_PyrdxlP-dep_Trfase_major_dom superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MUM1L1 HGNC MVK 4598 genome.wustl.edu 37 12 110032988 110032988 + Splice_Site SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 110032988 110032988 T C SNP MVK ENST00000228510 human ensembl 70_37 +1 known splice_site c.1039+2 e9+2 1.000 - - - no_errors MVK HGNC MX2 4600 genome.wustl.edu 37 21 42774012 42774012 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 42774012 42774012 G A SNP MX2 ENST00000330714 human ensembl 70_37 +1 known silent c.1530 p.Q510 0.000 pfam_Dynamin_central,superfamily_CH-domain pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_CH-domain,smart_Dynamin_GTPase,smart_GED,prints_Dynamin - no_errors MX2 HGNC MYCBP2 23077 genome.wustl.edu 37 13 77695487 77695487 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 77695487 77695487 G T SNP MYCBP2 ENST00000466564 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MYCBP2 HGNC MYCBPAP 84073 genome.wustl.edu 37 17 48594666 48594666 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 48594666 48594666 C T SNP MYCBPAP ENST00000323776 human ensembl 70_37 +1 known missense c.346 p.R116C 0.902 NULL NULL - no_errors MYCBPAP HGNC MYF6 4618 genome.wustl.edu 37 12 81101643 81101643 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 81101643 81101643 C T SNP MYF6 ENST00000228641 human ensembl 70_37 +1 known missense c.145 p.P49S 1.000 pfam_Basic,smart_Basic pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom - no_errors MYF6 HGNC MYH13 8735 genome.wustl.edu 37 17 10210289 10210289 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 10210289 10210289 G A SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known silent c.5262 p.N1754 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC MYH15 22989 genome.wustl.edu 37 3 108172877 108172877 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 108172877 108172877 T G SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.2435 p.K812T 0.998 NULL pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC MYH15 22989 genome.wustl.edu 37 3 108205277 108205277 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 108205277 108205277 G A SNP MYH15 ENST00000273353 human ensembl 70_37 -1 known missense c.1028 p.A343V 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC MYH3 4621 genome.wustl.edu 37 17 10537357 10537357 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 10537357 10537357 T G SNP MYH3 ENST00000226209 human ensembl 70_37 -1 known missense c.4499 p.K1500T 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC MYH4 4622 genome.wustl.edu 37 17 10356223 10356223 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 10356223 10356223 C A SNP MYH4 ENST00000255381 human ensembl 70_37 -1 known missense c.3138 p.K1046N 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC MYH6 4624 genome.wustl.edu 37 14 23862233 23862233 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 23862233 23862233 G A SNP MYH6 ENST00000356287 human ensembl 70_37 -1 known missense c.3139 p.R1047C 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC MYH8 4626 genome.wustl.edu 37 17 10317799 10317799 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 10317799 10317799 G T SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known missense c.808 p.L270I 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC MYL1 4632 genome.wustl.edu 37 2 211167231 211167231 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 211167231 211167231 G T SNP MYL1 ENST00000352451 human ensembl 70_37 -1 known missense c.141 p.F47L 1.000 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL1 HGNC MYLK3 91807 genome.wustl.edu 37 16 46766398 46766398 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 46766398 46766398 T G SNP MYLK3 ENST00000394809 human ensembl 70_37 -1 known missense c.1184 p.E395A 0.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MYLK3 HGNC MYO15B 80022 genome.wustl.edu 37 17 73620961 73620961 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 73620961 73620961 G A SNP MYO15B ENST00000293201 human ensembl 70_37 +1 known missense c.826 p.D276N 0.040 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom - no_errors MYO15B HGNC MYO18B 84700 genome.wustl.edu 37 22 26164885 26164885 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 26164885 26164885 G T SNP MYO18B ENST00000335473 human ensembl 70_37 +1 known missense c.1002 p.K334N 0.003 NULL pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC MYO1A 4640 genome.wustl.edu 37 12 57430602 57430602 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 57430602 57430602 A C SNP MYO1A ENST00000300119 human ensembl 70_37 -1 known missense c.2228 p.I743R 0.996 smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1A HGNC MYO1A 4640 genome.wustl.edu 37 12 57436875 57436875 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 57436875 57436875 C T SNP MYO1A ENST00000300119 human ensembl 70_37 -1 known missense c.1079 p.R360Q 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1A HGNC MYO3B 140469 genome.wustl.edu 37 2 171071299 171071299 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 171071299 171071299 C A SNP MYO3B ENST00000334231 human ensembl 70_37 +1 known missense c.514 p.L172I 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC MYOCD 93649 genome.wustl.edu 37 17 12666899 12666899 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 12666899 12666899 T G SNP MYOCD ENST00000425538 human ensembl 70_37 +1 known missense c.2899 p.F967V 1.000 NULL pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd - no_errors MYOCD HGNC MYOF 26509 genome.wustl.edu 37 10 95082920 95082920 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 95082920 95082920 G A SNP MYOF ENST00000359263 human ensembl 70_37 -1 known missense c.5371 p.R1791C 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors MYOF HGNC MYOM2 9172 genome.wustl.edu 37 8 2044137 2044137 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 2044137 2044137 T C SNP MYOM2 ENST00000262113 human ensembl 70_37 +1 known missense c.2176 p.S726P 0.980 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM2 HGNC MYRIP 25924 genome.wustl.edu 37 3 40299697 40299697 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 40299697 40299697 C T SNP MYRIP ENST00000459828 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors MYRIP HGNC NAA16 79612 genome.wustl.edu 37 13 41932524 41932524 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 41932524 41932524 C A SNP NAA16 ENST00000379406 human ensembl 70_37 +1 known missense c.1172 p.S391Y 0.431 smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR-contain_dom pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR-1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA16 HGNC NAALADL2 254827 genome.wustl.edu 37 3 174577206 174577206 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 174577206 174577206 G T SNP NAALADL2 ENST00000454872 human ensembl 70_37 +1 known missense c.9 p.E3D 1.000 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC NACA2 342538 genome.wustl.edu 37 17 59668212 59668212 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 59668212 59668212 G A SNP NACA2 ENST00000521764 human ensembl 70_37 -1 known silent c.330 p.D110 1.000 pfam_Nas_poly-pep-assoc_cplx,pirsf_Nas_poly-pep-assoc_cplx_asu,pfscan_Nas_poly-pep-assoc_cplx pfam_Nas_poly-pep-assoc_cplx,superfamily_UBA-like,pirsf_Nas_poly-pep-assoc_cplx_asu,pfscan_Nas_poly-pep-assoc_cplx - no_errors NACA2 HGNC NANOG 79923 genome.wustl.edu 37 12 7947426 7947426 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 7947426 7947426 A G SNP NANOG ENST00000229307 human ensembl 70_37 +1 known missense c.653 p.N218S 0.004 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors NANOG HGNC NAT16 375607 genome.wustl.edu 37 7 100816802 100816802 + Splice_Site SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 100816802 100816802 C A SNP NAT16 ENST00000300303 human ensembl 70_37 -1 known splice_site c.313-1 e2-1 1.000 - - - no_errors NAT16 HGNC NAV3 89795 genome.wustl.edu 37 12 78444581 78444581 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 78444581 78444581 G T SNP NAV3 ENST00000397909 human ensembl 70_37 +1 known nonsense c.2170 p.E724* 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC NBEAL1 65065 genome.wustl.edu 37 2 204016230 204016230 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 204016230 204016230 T G SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known missense c.5418 p.N1806K 1.000 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 NBEAL2 23218 genome.wustl.edu 37 3 47047475 47047475 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 47047475 47047475 G A SNP NBEAL2 ENST00000450053 human ensembl 70_37 +1 known missense c.6841 p.D2281N 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom 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 NBEAL2 HGNC NBPF1 55672 genome.wustl.edu 37 1 16935096 16935096 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 16935096 16935096 G T SNP NBPF1 ENST00000420513 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors NBPF1 HGNC NCAM1 4684 genome.wustl.edu 37 11 113147597 113147597 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 113147597 113147597 T G SNP NCAM1 ENST00000397957 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors NCAM1 HGNC NCAM2 4685 genome.wustl.edu 37 21 22790877 22790877 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 22790877 22790877 C A SNP NCAM2 ENST00000400546 human ensembl 70_37 +1 known missense c.1468 p.L490I 1.000 superfamily_Fibronectin_type3,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM2 HGNC NCAPH2 29781 genome.wustl.edu 37 22 50954903 50954903 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 50954903 50954903 G A SNP NCAPH2 ENST00000299821 human ensembl 70_37 +1 known missense c.136 p.E46K 0.999 NULL pfam_Condensin_II_H2-like - no_errors NCAPH2 HGNC NCAPH2 29781 genome.wustl.edu 37 22 50956613 50956613 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 50956613 50956613 C T SNP NCAPH2 ENST00000299821 human ensembl 70_37 +1 known silent c.552 p.C184 0.855 pfam_Condensin_II_H2-like pfam_Condensin_II_H2-like - no_errors NCAPH2 HGNC NCOR1P1 149934 genome.wustl.edu 37 20 26084087 26084087 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 26084087 26084087 A C SNP NCOR1P1 ENST00000478176 human ensembl 70_37 -1 known rna NULL NULL 0.010 - - - no_errors NCOR1P1 HGNC NCOR2 9612 genome.wustl.edu 37 12 124812015 124812015 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 124812015 124812015 G A SNP NCOR2 ENST00000356219 human ensembl 70_37 -1 known missense c.7144 p.P2382S 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC NDE1 54820 genome.wustl.edu 37 16 15788036 15788036 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 15788036 15788036 A G SNP NDE1 ENST00000396353 human ensembl 70_37 +1 known missense c.718 p.T240A 0.000 pfam_NUDE_C pfam_NUDE_C - no_errors NDE1 HGNC NDNF 79625 genome.wustl.edu 37 4 121958454 121958454 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 121958454 121958454 G T SNP NDNF ENST00000379692 human ensembl 70_37 -1 known silent c.672 p.L224 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC NDUFS2 4720 genome.wustl.edu 37 1 161180448 161180448 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 161180448 161180448 G A SNP NDUFS2 ENST00000367993 human ensembl 70_37 +1 known missense c.934 p.D312N 0.999 pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H pfam_NADH_Q_OxRdtase_suD,tigrfam_NDH1_su_D/H - no_errors NDUFS2 HGNC NDUFS6 4726 genome.wustl.edu 37 5 1802490 1802490 + Splice_Site SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 1802490 1802490 T C SNP NDUFS6 ENST00000274137 human ensembl 70_37 +1 known splice_site c.186+2 e2+2 0.998 - - - no_errors NDUFS6 HGNC NEB 4703 genome.wustl.edu 37 2 152348657 152348657 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 152348657 152348657 C A SNP NEB ENST00000397345 human ensembl 70_37 -1 known nonsense c.25012 p.E8338* 1.000 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC NEB 4703 genome.wustl.edu 37 2 152518712 152518712 + Nonsense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 152518712 152518712 A C SNP NEB ENST00000397345 human ensembl 70_37 -1 known nonsense c.5907 p.Y1969* 1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC NEDD4 4734 genome.wustl.edu 37 15 56130719 56130719 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 56130719 56130719 T G SNP NEDD4 ENST00000508342 human ensembl 70_37 -1 known missense c.3372 p.E1124D 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors NEDD4 HGNC NEFL 4747 genome.wustl.edu 37 8 24809849 24809849 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 24809849 24809849 T G SNP NEFL ENST00000221169 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors NEFL HGNC NEFM 4741 genome.wustl.edu 37 8 24775212 24775212 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 24775212 24775212 C A SNP NEFM ENST00000221166 human ensembl 70_37 +1 known missense c.1844 p.S615Y 0.497 NULL pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC NEK10 152110 genome.wustl.edu 37 3 27297822 27297822 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 27297822 27297822 T G SNP NEK10 ENST00000341435 human ensembl 70_37 -1 known missense c.2055 p.K685N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors NEK10 HGNC NELL2 4753 genome.wustl.edu 37 12 45000955 45000955 + Missense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 45000955 45000955 T A SNP NELL2 ENST00000437801 human ensembl 70_37 -1 known missense c.1810 p.T604S 1.000 NULL pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC NF1 4763 genome.wustl.edu 37 17 29556485 29556485 + Splice_Site SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 29556485 29556485 T G SNP NF1 ENST00000358273 human ensembl 70_37 +1 known splice_site c.2850+2 e21+2 1.000 - - - no_errors NF1 HGNC NF1 4763 genome.wustl.edu 37 17 29677227 29677227 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 29677227 29677227 C T SNP NF1 ENST00000358273 human ensembl 70_37 +1 known nonsense c.7348 p.R2450* 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC NFASC 23114 genome.wustl.edu 37 1 204937953 204937953 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 204937953 204937953 G T SNP NFASC ENST00000367172 human ensembl 70_37 +1 known missense c.846 p.K282N 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NFASC HGNC NFASC 23114 genome.wustl.edu 37 1 204985648 204985648 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 204985648 204985648 C A SNP NFASC ENST00000367172 human ensembl 70_37 +1 known missense c.4025 p.A1342D 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NFASC HGNC NFASC 23114 genome.wustl.edu 37 1 204987179 204987179 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 204987179 204987179 T G SNP NFASC ENST00000495396 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NFASC HGNC NFASC 23114 genome.wustl.edu 37 1 204991893 204991893 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 204991893 204991893 A C SNP NFASC ENST00000495396 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors NFASC HGNC NFATC2 4773 genome.wustl.edu 37 20 50092153 50092153 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 50092153 50092153 G T SNP NFATC2 ENST00000396009 human ensembl 70_37 -1 known missense c.1377 p.F459L 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC NHLRC3 387921 genome.wustl.edu 37 13 39613372 39613372 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 39613372 39613372 A C SNP NHLRC3 ENST00000379600 human ensembl 70_37 +1 known missense c.184 p.T62P 0.002 NULL pfam_NHL_repeat,pfscan_NHL_repeat_subgr - no_errors NHLRC3 HGNC NID2 22795 genome.wustl.edu 37 14 52520402 52520402 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 52520402 52520402 C A SNP NID2 ENST00000216286 human ensembl 70_37 -1 known nonsense c.1324 p.E442* 0.046 NULL pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC NIPAL1 152519 genome.wustl.edu 37 4 48038114 48038114 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 48038114 48038114 T G SNP NIPAL1 ENST00000295461 human ensembl 70_37 +1 known silent c.1158 p.V386 0.161 NULL pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL1 HGNC NIPBL 25836 genome.wustl.edu 37 5 37044825 37044825 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 37044825 37044825 T G SNP NIPBL ENST00000282516 human ensembl 70_37 +1 known missense c.6337 p.Y2113D 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors NIPBL HGNC NKAPL 222698 genome.wustl.edu 37 6 28228147 28228147 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 28228147 28228147 C A SNP NKAPL ENST00000343684 human ensembl 70_37 +1 known missense c.998 p.S333Y 0.949 pfam_DUF926 pfam_DUF926 - no_errors NKAPL HGNC NKX2-1 7080 genome.wustl.edu 37 14 36988394 36988394 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 36988394 36988394 C T SNP NKX2-1 ENST00000354822 human ensembl 70_37 -1 known missense c.259 p.A87T 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX2-1 HGNC NLRC4 58484 genome.wustl.edu 37 2 32463229 32463229 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 32463229 32463229 G T SNP NLRC4 ENST00000360906 human ensembl 70_37 -1 known nonsense c.2493 p.C831* 0.989 NULL pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC NLRC5 84166 genome.wustl.edu 37 16 57063770 57063770 + Splice_Site SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 57063770 57063770 T G SNP NLRC5 ENST00000262510 human ensembl 70_37 +1 known splice_site c.2327+2 e7+2 1.000 - - - no_errors NLRC5 HGNC NLRP10 338322 genome.wustl.edu 37 11 7982618 7982618 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 7982618 7982618 T C SNP NLRP10 ENST00000328600 human ensembl 70_37 -1 known missense c.541 p.T181A 0.831 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP10 HGNC NLRP4 147945 genome.wustl.edu 37 19 56382215 56382215 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 56382215 56382215 G A SNP NLRP4 ENST00000301295 human ensembl 70_37 +1 known missense c.2377 p.E793K 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC NLRP4 147945 genome.wustl.edu 37 19 56382313 56382313 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 56382313 56382313 A C SNP NLRP4 ENST00000301295 human ensembl 70_37 +1 known missense c.2475 p.K825N 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC NLRP5 126206 genome.wustl.edu 37 19 56538691 56538691 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 56538691 56538691 C T SNP NLRP5 ENST00000390649 human ensembl 70_37 +1 known silent c.1092 p.F364 0.002 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC NLRP9 338321 genome.wustl.edu 37 19 56220385 56220385 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 56220385 56220385 C A SNP NLRP9 ENST00000332836 human ensembl 70_37 -1 known nonsense c.2869 p.E957* 0.005 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC NLRP9 338321 genome.wustl.edu 37 19 56235489 56235489 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 56235489 56235489 T C SNP NLRP9 ENST00000332836 human ensembl 70_37 -1 known silent c.2016 p.G672 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC NME8 51314 genome.wustl.edu 37 7 37936561 37936561 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 37936561 37936561 A C SNP NME8 ENST00000199447 human ensembl 70_37 +1 known missense c.1634 p.K545T 0.060 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC NOL6 65083 genome.wustl.edu 37 9 33469506 33469506 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 33469506 33469506 G A SNP NOL6 ENST00000297990 human ensembl 70_37 -1 known missense c.718 p.R240W 0.998 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC NOLC1 9221 genome.wustl.edu 37 10 103920264 103920264 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 103920264 103920264 G T SNP NOLC1 ENST00000405356 human ensembl 70_37 +1 known missense c.1185 p.K395N 0.627 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC NONO 4841 genome.wustl.edu 37 X 70521007 70521007 + RNA SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 70521007 70521007 T A SNP NONO ENST00000490044 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors NONO HGNC NOP58 51602 genome.wustl.edu 37 2 203160408 203160408 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 203160408 203160408 A C SNP NOP58 ENST00000264279 human ensembl 70_37 +1 known missense c.919 p.N307H 1.000 pfam_SnoRNA-bd_dom pfam_SnoRNA-bd_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP58 HGNC NOS1 4842 genome.wustl.edu 37 12 117710211 117710211 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 117710211 117710211 G A SNP NOS1 ENST00000317775 human ensembl 70_37 -1 known silent c.1818 p.N606 0.991 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_met,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC NOS3 4846 genome.wustl.edu 37 7 150698430 150698430 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 150698430 150698430 G A SNP NOS3 ENST00000297494 human ensembl 70_37 +1 known missense c.1345 p.V449M 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_met pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_met,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC NOX1 27035 genome.wustl.edu 37 X 100105261 100105261 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 100105261 100105261 G A SNP NOX1 ENST00000372966 human ensembl 70_37 -1 known missense c.1012 p.H338Y 1.000 pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX1 HGNC NOX3 50508 genome.wustl.edu 37 6 155761194 155761194 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 155761194 155761194 C A SNP NOX3 ENST00000159060 human ensembl 70_37 -1 known missense c.564 p.M188I 1.000 pfam_Fe3_Rdtase_TM_dom,prints_Cyt_b245_heavy_chain pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC NPAP1 23742 genome.wustl.edu 37 15 24923533 24923533 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 24923533 24923533 T C SNP NPAP1 ENST00000329468 human ensembl 70_37 +1 known missense c.2519 p.F840S 0.000 NULL NULL - no_errors NPAP1 HGNC NPAS3 64067 genome.wustl.edu 37 14 33836443 33836443 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 33836443 33836443 T G SNP NPAS3 ENST00000356141 human ensembl 70_37 +1 known missense c.437 p.F146C 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom - no_errors NPAS3 HGNC NPAS4 266743 genome.wustl.edu 37 11 66191114 66191114 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 66191114 66191114 G A SNP NPAS4 ENST00000311034 human ensembl 70_37 +1 known missense c.874 p.A292T 1.000 pfam_PAS_fold_3 pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC NPC1L1 29881 genome.wustl.edu 37 7 44560680 44560680 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 44560680 44560680 C T SNP NPC1L1 ENST00000289547 human ensembl 70_37 -1 known silent c.2991 p.T997 0.000 NULL pfam_Patched,pfscan_SSD - no_errors NPC1L1 HGNC NR1H2 7376 genome.wustl.edu 37 19 50881478 50881478 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 50881478 50881478 A C SNP NR1H2 ENST00000253727 human ensembl 70_37 +1 known missense c.254 p.E85A 1.000 smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Ecdystd_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_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H2 HGNC NR2C2 7182 genome.wustl.edu 37 3 15045440 15045440 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 15045440 15045440 C T SNP NR2C2 ENST00000323373 human ensembl 70_37 +1 known missense c.19 p.R7C 1.000 NULL 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_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C2 HGNC NR2E1 7101 genome.wustl.edu 37 6 108508606 108508606 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 108508606 108508606 C A SNP NR2E1 ENST00000368986 human ensembl 70_37 +1 known missense c.1097 p.T366N 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR2E1 HGNC NR6A1 2649 genome.wustl.edu 37 9 127287012 127287012 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 127287012 127287012 G A SNP NR6A1 ENST00000487099 human ensembl 70_37 -1 known nonsense c.1342 p.R448* 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR6A1 HGNC NRBP2 340371 genome.wustl.edu 37 8 144919847 144919847 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 144919847 144919847 G A SNP NRBP2 ENST00000327830 human ensembl 70_37 -1 known silent c.192 p.F64 0.994 superfamily_Kinase-like_dom superfamily_Kinase-like_dom - no_errors NRBP2 HGNC NRCAM 4897 genome.wustl.edu 37 7 107807496 107807496 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 107807496 107807496 T G SNP NRCAM ENST00000379028 human ensembl 70_37 -1 known missense c.3336 p.E1112D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 NRCAM HGNC NRCAM 4897 genome.wustl.edu 37 7 107807498 107807498 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 107807498 107807498 C A SNP NRCAM ENST00000379028 human ensembl 70_37 -1 known nonsense c.3334 p.E1112* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 NRCAM HGNC NRXN1 9378 genome.wustl.edu 37 2 50318533 50318533 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 50318533 50318533 G A SNP NRXN1 ENST00000402717 human ensembl 70_37 -1 known missense c.3622 p.R1208C 0.978 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC NT5C2 22978 genome.wustl.edu 37 10 104861027 104861027 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 104861027 104861027 C A SNP NT5C2 ENST00000343289 human ensembl 70_37 -1 known missense c.446 p.R149I 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5C2 HGNC NT5DC3 51559 genome.wustl.edu 37 12 104208767 104208767 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 104208767 104208767 A G SNP NT5DC3 ENST00000392876 human ensembl 70_37 -1 known missense c.341 p.L114P 1.000 pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,pirsf_Pur_nucleotidase,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC3 HGNC NT5DC4 284958 genome.wustl.edu 37 2 113487254 113487254 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 113487254 113487254 C T SNP NT5DC4 ENST00000327581 human ensembl 70_37 +1 novel silent c.1221 p.A407 0.005 NULL pfam_HAD-SF_hydro_IG_5-nucl,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IG_5-nucl - no_errors NT5DC4 HGNC NUB1 51667 genome.wustl.edu 37 7 151053226 151053226 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 151053226 151053226 T G SNP NUB1 ENST00000568733 human ensembl 70_37 +1 known missense c.683 p.V228G 1.000 NULL pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors NUB1 HGNC NUF2 83540 genome.wustl.edu 37 1 163318778 163318778 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 163318778 163318778 C T SNP NUF2 ENST00000271452 human ensembl 70_37 +1 known nonsense c.1168 p.R390* 0.065 NULL pfam_Kinetochore_Nuf2 - no_errors NUF2 HGNC NUP210P1 255330 genome.wustl.edu 37 3 126382235 126382235 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 126382235 126382235 C T SNP NUP210P1 ENST00000357061 human ensembl 70_37 +1 known rna NULL NULL 0.070 - - - no_errors NUP210P1 HGNC NUP37 79023 genome.wustl.edu 37 12 102512330 102512330 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 102512330 102512330 T G SNP NUP37 ENST00000543021 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors NUP37 HGNC NUP62 23636 genome.wustl.edu 37 19 50412967 50412967 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 50412967 50412967 G T SNP NUP62 ENST00000352066 human ensembl 70_37 -1 known missense c.98 p.S33Y 1.000 NULL pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC NWD1 284434 genome.wustl.edu 37 19 16861134 16861134 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 16861134 16861134 G T SNP NWD1 ENST00000379808 human ensembl 70_37 +1 known nonsense c.1681 p.E561* 0.899 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC NXPE1 120400 genome.wustl.edu 37 11 114393199 114393199 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 114393199 114393199 T C SNP NXPE1 ENST00000424269 human ensembl 70_37 -1 known missense c.1135 p.T379A 0.928 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC NXPE1 120400 genome.wustl.edu 37 11 114393690 114393690 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 114393690 114393690 A C SNP NXPE1 ENST00000424269 human ensembl 70_37 -1 known missense c.1019 p.I340R 0.001 NULL pfam_NXPH/NXPE,superfamily_Ig_E-set - no_errors NXPE1 HGNC NYAP1 222950 genome.wustl.edu 37 7 100087051 100087052 + Frame_Shift_Ins INS - - G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 100087051 100087052 - G INS NYAP1 ENST00000423930 human ensembl 70_37 +1 known frame_shift_ins c.1707_1708 p.V571fs 0.997:1.000 NULL NULL - no_errors NYAP1 HGNC NYAP2 57624 genome.wustl.edu 37 2 226446723 226446723 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 226446723 226446723 G A SNP NYAP2 ENST00000272907 human ensembl 70_37 +1 known missense c.590 p.R197Q 0.888 NULL NULL - no_errors NYAP2 HGNC NYNRIN 57523 genome.wustl.edu 37 14 24882303 24882303 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 24882303 24882303 C T SNP NYNRIN ENST00000382554 human ensembl 70_37 +1 known missense c.2743 p.R915C 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC OBSCN 84033 genome.wustl.edu 37 1 228434252 228434252 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 228434252 228434252 G A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.3781 p.E1261K 1.000 pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC OBSCN 84033 genome.wustl.edu 37 1 228474614 228474614 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 228474614 228474614 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.9418 p.R3140W 0.993 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC OBSCN 84033 genome.wustl.edu 37 1 228547665 228547665 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 228547665 228547665 C A SNP OBSCN ENST00000366709 human ensembl 70_37 +1 known missense c.10429 p.L3477I 0.004 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC OBSL1 23363 genome.wustl.edu 37 2 220432576 220432576 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 220432576 220432576 C T SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known silent c.1398 p.E466 0.918 smart_Ig_sub pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors OBSL1 HGNC OCLN 100506658 genome.wustl.edu 37 5 68840932 68840932 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 68840932 68840932 G T SNP OCLN ENST00000355237 human ensembl 70_37 +1 known missense c.1239 p.E413D 1.000 pirsf_Occludin pfam_Occludin_RNApol2_elong_fac_ELL,pfam_MARVEL-like_dom,pirsf_Occludin,prints_Occludin - no_errors OCLN HGNC OCRL 4952 genome.wustl.edu 37 X 128710357 128710357 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 128710357 128710357 C T SNP OCRL ENST00000371113 human ensembl 70_37 +1 known missense c.1943 p.S648L 0.999 NULL pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors OCRL HGNC OCSTAMP 128506 genome.wustl.edu 37 20 45174665 45174665 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 45174665 45174665 C T SNP OCSTAMP ENST00000279028 human ensembl 70_37 -1 known silent c.348 p.E116 0.998 NULL pfam_DC_STAMP-like - no_errors OCSTAMP HGNC ODF2 4957 genome.wustl.edu 37 9 131255085 131255085 + Splice_Site SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 131255085 131255085 G A SNP ODF2 ENST00000372796 human ensembl 70_37 +1 known splice_site c.1752+1 e15+1 1.000 - - - no_errors ODF2 HGNC OGDH 4967 genome.wustl.edu 37 7 44706246 44706246 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 44706246 44706246 G T SNP OGDH ENST00000459672 human ensembl 70_37 +1 known rna NULL NULL 0.024 - - - no_errors OGDH HGNC OGT 8473 genome.wustl.edu 37 X 70784469 70784469 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 70784469 70784469 A C SNP OGT ENST00000373719 human ensembl 70_37 +1 known missense c.2455 p.T819P 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC OLAH 55301 genome.wustl.edu 37 10 15115213 15115213 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 15115213 15115213 G A SNP OLAH ENST00000378217 human ensembl 70_37 +1 known silent c.942 p.S314 0.000 NULL pfam_Thioesterase - no_errors OLAH HGNC OMP 4975 genome.wustl.edu 37 11 76814000 76814000 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 76814000 76814000 C T SNP OMP ENST00000529803 human ensembl 70_37 +1 known missense c.115 p.R39C 1.000 pfam_Olfactory_marker,superfamily_Olfactory_marker pfam_Olfactory_marker,superfamily_Olfactory_marker - no_errors OMP HGNC OPHN1 4983 genome.wustl.edu 37 X 67283722 67283722 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 67283722 67283722 G A SNP OPHN1 ENST00000355520 human ensembl 70_37 -1 known missense c.2132 p.P711L 0.969 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC OR10A6 390093 genome.wustl.edu 37 11 7949483 7949483 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 7949483 7949483 C T SNP OR10A6 ENST00000309838 human ensembl 70_37 -1 known missense c.727 p.A243T 0.994 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 OR10A6 HGNC OR10H1 26539 genome.wustl.edu 37 19 15918816 15918816 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 15918816 15918816 T C SNP OR10H1 ENST00000334920 human ensembl 70_37 -1 known missense c.32 p.Q11R 0.019 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H1 HGNC OR10H5 284433 genome.wustl.edu 37 19 15905096 15905096 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 15905096 15905096 C T SNP OR10H5 ENST00000308940 human ensembl 70_37 +1 known missense c.238 p.R80C 0.079 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H5 HGNC OR13A1 79290 genome.wustl.edu 37 10 45799286 45799286 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 45799286 45799286 G T SNP OR13A1 ENST00000374401 human ensembl 70_37 -1 known missense c.585 p.F195L 0.997 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 OR13A1 HGNC OR13C3 138803 genome.wustl.edu 37 9 107298510 107298510 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 107298510 107298510 T C SNP OR13C3 ENST00000374781 human ensembl 70_37 -1 known silent c.585 p.R195 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C3 HGNC OR14A2 388761 genome.wustl.edu 37 1 247886434 247886434 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 247886434 247886434 C A SNP OR14A2 ENST00000366485 human ensembl 70_37 -1 known missense c.912 p.Q304H 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14A2 HGNC OR1A2 26189 genome.wustl.edu 37 17 3101385 3101385 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 3101385 3101385 C T SNP OR1A2 ENST00000381951 human ensembl 70_37 +1 known silent c.573 p.D191 0.116 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1A2 HGNC OR1C1 26188 genome.wustl.edu 37 1 247920819 247920819 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 247920819 247920819 A G SNP OR1C1 ENST00000408896 human ensembl 70_37 -1 known missense c.890 p.M297T 0.092 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1C1 HGNC OR1E1 8387 genome.wustl.edu 37 17 3301095 3301095 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 3301095 3301095 C A SNP OR1E1 ENST00000322608 human ensembl 70_37 -1 known missense c.610 p.G204W 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1E1 HGNC OR1G1 8390 genome.wustl.edu 37 17 3030623 3030623 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 3030623 3030623 A G SNP OR1G1 ENST00000328890 human ensembl 70_37 -1 known missense c.223 p.S75P 0.601 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1G1 HGNC OR2M3 127062 genome.wustl.edu 37 1 248366705 248366705 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 248366705 248366705 C A SNP OR2M3 ENST00000456743 human ensembl 70_37 +1 known nonsense c.336 p.C112* 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2M3 HGNC OR2M4 26245 genome.wustl.edu 37 1 248402760 248402760 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 248402760 248402760 T G SNP OR2M4 ENST00000306687 human ensembl 70_37 +1 known missense c.530 p.F177C 0.399 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 OR2M4 HGNC OR2M4 26245 genome.wustl.edu 37 1 248402986 248402986 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 248402986 248402986 C T SNP OR2M4 ENST00000306687 human ensembl 70_37 +1 known silent c.756 p.Y252 0.375 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M4 HGNC OR2M5 127059 genome.wustl.edu 37 1 248308725 248308725 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 248308725 248308725 T G SNP OR2M5 ENST00000366476 human ensembl 70_37 +1 known missense c.276 p.I92M 0.014 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 OR2M5 HGNC OR2T10 127069 genome.wustl.edu 37 1 248756811 248756811 + Missense_Mutation SNP C C G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 248756811 248756811 C G SNP OR2T10 ENST00000330500 human ensembl 70_37 -1 known missense c.259 p.A87P 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T10 HGNC OR4C3 256144 genome.wustl.edu 37 11 48346655 48346655 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 48346655 48346655 G A SNP OR4C3 ENST00000319856 human ensembl 70_37 +1 known missense c.163 p.V55I 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC OR4N4 283694 genome.wustl.edu 37 15 22382811 22382811 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 22382811 22382811 A G SNP OR4N4 ENST00000328795 human ensembl 70_37 +1 known silent c.339 p.L113 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC OR4X2 119764 genome.wustl.edu 37 11 48267500 48267500 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 48267500 48267500 G T SNP OR4X2 ENST00000302329 human ensembl 70_37 +1 known missense c.845 p.R282I 0.998 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4X2 HGNC OR51I1 390063 genome.wustl.edu 37 11 5462433 5462433 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 5462433 5462433 G T SNP OR51I1 ENST00000380211 human ensembl 70_37 -1 known missense c.312 p.F104L 1.000 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 OR51I1 HGNC OR51S1 119692 genome.wustl.edu 37 11 4869575 4869575 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 4869575 4869575 G T SNP OR51S1 ENST00000322101 human ensembl 70_37 -1 known missense c.864 p.F288L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51S1 HGNC OR51S1 119692 genome.wustl.edu 37 11 4869592 4869592 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 4869592 4869592 G T SNP OR51S1 ENST00000322101 human ensembl 70_37 -1 known missense c.847 p.L283I 0.890 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51S1 HGNC OR52A5 390054 genome.wustl.edu 37 11 5153659 5153659 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 5153659 5153659 C A SNP OR52A5 ENST00000307388 human ensembl 70_37 -1 known missense c.214 p.D72Y 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52A5 HGNC OR52E4 390081 genome.wustl.edu 37 11 5905772 5905772 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 5905772 5905772 C A SNP OR52E4 ENST00000316987 human ensembl 70_37 +1 known missense c.250 p.L84I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52E4 HGNC OR52I1 390037 genome.wustl.edu 37 11 4615380 4615380 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 4615380 4615380 A C SNP OR52I1 ENST00000530443 human ensembl 70_37 +1 putative missense c.112 p.M38L 0.976 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52I1 HGNC OR52L1 338751 genome.wustl.edu 37 11 6007367 6007367 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 6007367 6007367 A G SNP OR52L1 ENST00000332249 human ensembl 70_37 -1 known missense c.794 p.V265A 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52L1 HGNC OR52N4 390072 genome.wustl.edu 37 11 5775987 5775987 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 5775987 5775987 A C SNP OR52N4 ENST00000317254 human ensembl 70_37 +1 known missense c.17 p.K6T 0.481 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52N4 HGNC OR5AN1 390195 genome.wustl.edu 37 11 59132047 59132047 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 59132047 59132047 C A SNP OR5AN1 ENST00000313940 human ensembl 70_37 +1 known missense c.116 p.S39Y 0.001 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AN1 HGNC OR5D18 219438 genome.wustl.edu 37 11 55587477 55587477 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 55587477 55587477 C T SNP OR5D18 ENST00000333976 human ensembl 70_37 +1 known silent c.372 p.F124 0.616 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5D18 HGNC OR5M11 219487 genome.wustl.edu 37 11 56309909 56309909 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 56309909 56309909 G T SNP OR5M11 ENST00000528616 human ensembl 70_37 -1 known silent c.825 p.V275 0.981 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M11 HGNC OR5M11 219487 genome.wustl.edu 37 11 56310180 56310180 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 56310180 56310180 T G SNP OR5M11 ENST00000528616 human ensembl 70_37 -1 known missense c.554 p.K185T 1.000 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 OR5M11 HGNC OR6C75 390323 genome.wustl.edu 37 12 55759219 55759219 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 55759219 55759219 G T SNP OR6C75 ENST00000343399 human ensembl 70_37 +1 known nonsense c.325 p.E109* 0.735 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C75 HGNC OR6M1 390261 genome.wustl.edu 37 11 123676786 123676786 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 123676786 123676786 G T SNP OR6M1 ENST00000309154 human ensembl 70_37 -1 known missense c.272 p.S91Y 0.162 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 OR6M1 HGNC OR7D2 162998 genome.wustl.edu 37 19 9296840 9296840 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 9296840 9296840 A C SNP OR7D2 ENST00000344248 human ensembl 70_37 +1 known missense c.383 p.H128P 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7D2 HGNC OR7E14P 10819 genome.wustl.edu 37 11 17074024 17074024 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 17074024 17074024 C A SNP OR7E14P ENST00000530490 human ensembl 70_37 +1 known rna NULL NULL 0.175 - - - no_errors OR7E14P HGNC OR7E19P 26651 genome.wustl.edu 37 19 9376402 9376402 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 9376402 9376402 G T SNP OR7E19P ENST00000588789 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors OR7E19P HGNC OR7G3 390883 genome.wustl.edu 37 19 9237587 9237587 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 9237587 9237587 G T SNP OR7G3 ENST00000305444 human ensembl 70_37 -1 known missense c.40 p.L14I 0.735 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G3 HGNC OR8U1 219417 genome.wustl.edu 37 11 56143423 56143423 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 56143423 56143423 G T SNP OR8U1 ENST00000302270 human ensembl 70_37 +1 known missense c.324 p.M108I 0.003 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8U1 HGNC ORAOV1 220064 genome.wustl.edu 37 11 69482387 69482387 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 69482387 69482387 C A SNP ORAOV1 ENST00000537324 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors ORAOV1 HGNC OSBPL11 114885 genome.wustl.edu 37 3 125271449 125271449 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 125271449 125271449 G A SNP OSBPL11 ENST00000296220 human ensembl 70_37 -1 known silent c.1230 p.D410 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL11 HGNC OSBPL1A 114876 genome.wustl.edu 37 18 21746657 21746657 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 21746657 21746657 A C SNP OSBPL1A ENST00000319481 human ensembl 70_37 -1 known missense c.2545 p.F849V 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pleckstrin_homology,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,prints_Ankyrin_rpt - no_errors OSBPL1A HGNC OSBPL3 26031 genome.wustl.edu 37 7 24854690 24854690 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 24854690 24854690 C A SNP OSBPL3 ENST00000313367 human ensembl 70_37 -1 known silent c.2160 p.V720 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC OSBPL5 114879 genome.wustl.edu 37 11 3125479 3125479 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 3125479 3125479 C T SNP OSBPL5 ENST00000471998 human ensembl 70_37 -1 known missense c.335 p.R112H 0.005 NULL NULL - no_errors OSBPL5 HGNC OTC 5009 genome.wustl.edu 37 X 38211946 38211946 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 38211946 38211946 G T SNP OTC ENST00000488812 human ensembl 70_37 +1 known rna NULL NULL 0.367 - - - no_errors OTC HGNC OTOGL 283310 genome.wustl.edu 37 12 80613628 80613628 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 80613628 80613628 C T SNP OTOGL ENST00000458043 human ensembl 70_37 +1 known silent c.243 p.F81 1.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC OTOGL 283310 genome.wustl.edu 37 12 80658837 80658837 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 80658837 80658837 A C SNP OTOGL ENST00000458043 human ensembl 70_37 +1 known missense c.2044 p.I682L 0.060 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC OTOGL 283310 genome.wustl.edu 37 12 80764416 80764416 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 80764416 80764416 A C SNP OTOGL ENST00000458043 human ensembl 70_37 +1 known missense c.6655 p.I2219L 0.938 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC OVOL2 58495 genome.wustl.edu 37 20 18038267 18038267 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 18038267 18038267 G T SNP OVOL2 ENST00000278780 human ensembl 70_37 -1 known silent c.12 p.V4 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OVOL2 HGNC OXTR 5021 genome.wustl.edu 37 3 8794887 8794887 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 8794887 8794887 G A SNP OXTR ENST00000316793 human ensembl 70_37 -1 known missense c.946 p.L316F 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Oxytocn_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors OXTR HGNC P2RX1 5023 genome.wustl.edu 37 17 3802962 3802962 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 3802962 3802962 C T SNP P2RX1 ENST00000225538 human ensembl 70_37 -1 known missense c.841 p.E281K 0.936 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X1_purnocptor,prints_P2X_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX1 HGNC P2RY12 64805 genome.wustl.edu 37 3 151056222 151056222 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 151056222 151056222 G T SNP P2RY12 ENST00000302632 human ensembl 70_37 -1 known missense c.412 p.L138I 0.207 pfam_GPCR_Rhodpsn,prints_P2Y12_purnocptor,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_P2Y12_purnocptor,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_P2Y13_purnocptor,prints_UDPG_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors P2RY12 HGNC P2RY13 53829 genome.wustl.edu 37 3 151046163 151046163 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 151046163 151046163 A C SNP P2RY13 ENST00000325602 human ensembl 70_37 -1 known missense c.681 p.F227L 0.999 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y13_purnocptor,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_UDPG_rcpt - no_errors P2RY13 HGNC P2RY8 286530 genome.wustl.edu 37 X 1584687 1584687 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 1584687 1584687 G A SNP P2RY8 ENST00000381297 human ensembl 70_37 -1 known silent c.765 p.F255 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt - no_errors P2RY8 HGNC PABPC5 140886 genome.wustl.edu 37 X 90690779 90690779 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 90690779 90690779 T C SNP PABPC5 ENST00000312600 human ensembl 70_37 +1 known missense c.203 p.F68S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC PACS1 55690 genome.wustl.edu 37 11 65977848 65977848 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 65977848 65977848 C A SNP PACS1 ENST00000320580 human ensembl 70_37 +1 known missense c.460 p.L154I 1.000 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS1 HGNC PAK6 56924 genome.wustl.edu 37 15 40568273 40568273 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 40568273 40568273 G A SNP PAK6 ENST00000260404 human ensembl 70_37 +1 known missense c.2024 p.R675Q 1.000 superfamily_Kinase-like_dom 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 PAK6 HGNC PAN3 255967 genome.wustl.edu 37 13 28854578 28854578 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 28854578 28854578 G A SNP PAN3 ENST00000380958 human ensembl 70_37 +1 known missense c.2219 p.R740Q 1.000 superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_cat_dom - no_errors PAN3 HGNC PAPPA 5069 genome.wustl.edu 37 9 118997560 118997560 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 118997560 118997560 C T SNP PAPPA ENST00000328252 human ensembl 70_37 +1 known silent c.2376 p.V792 0.878 superfamily_Fibronectin_type3 pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC PAPPA2 60676 genome.wustl.edu 37 1 176564676 176564676 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 176564676 176564676 G A SNP PAPPA2 ENST00000367662 human ensembl 70_37 +1 known missense c.1936 p.D646N 0.998 NULL pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC PAPSS1 9061 genome.wustl.edu 37 4 108615047 108615047 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 108615047 108615047 T G SNP PAPSS1 ENST00000265174 human ensembl 70_37 -1 known missense c.291 p.K97N 0.836 pfam_APS_kinase,tigrfam_APS_kinase pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS1 HGNC PARD3 56288 genome.wustl.edu 37 10 34626313 34626313 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 34626313 34626313 C T SNP PARD3 ENST00000374789 human ensembl 70_37 -1 known missense c.2459 p.R820Q 1.000 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC PARD6B 84612 genome.wustl.edu 37 20 49366912 49366912 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 49366912 49366912 C T SNP PARD6B ENST00000371610 human ensembl 70_37 +1 known missense c.1006 p.P336S 0.977 NULL pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ - no_errors PARD6B HGNC PARP11 57097 genome.wustl.edu 37 12 3921552 3921552 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 3921552 3921552 T C SNP PARP11 ENST00000228820 human ensembl 70_37 -1 known missense c.754 p.I252V 0.998 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP11 HGNC PARP11 57097 genome.wustl.edu 37 12 3939163 3939163 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 3939163 3939163 C A SNP PARP11 ENST00000228820 human ensembl 70_37 -1 known nonsense c.40 p.E14* 0.993 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP11 HGNC PARP14 54625 genome.wustl.edu 37 3 122418266 122418266 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 122418266 122418266 G A SNP PARP14 ENST00000474629 human ensembl 70_37 +1 known missense c.865 p.D289N 0.000 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 PARPBP 55010 genome.wustl.edu 37 12 102559603 102559603 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 102559603 102559603 A G SNP PARPBP ENST00000358383 human ensembl 70_37 +1 known missense c.763 p.N255D 0.420 NULL NULL - no_errors PARPBP HGNC PARPBP 55010 genome.wustl.edu 37 12 102576370 102576370 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 102576370 102576370 C T SNP PARPBP ENST00000358383 human ensembl 70_37 +1 known missense c.1228 p.R410C 1.000 NULL NULL - no_errors PARPBP HGNC PARPBP 55010 genome.wustl.edu 37 12 102590315 102590315 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 102590315 102590315 C A SNP PARPBP ENST00000535811 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PARPBP HGNC PAXIP1 22976 genome.wustl.edu 37 7 154751640 154751640 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 154751640 154751640 G A SNP PAXIP1 ENST00000397192 human ensembl 70_37 -1 known missense c.2438 p.A813V 1.000 NULL pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC PBX3 5090 genome.wustl.edu 37 9 128678194 128678194 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 128678194 128678194 G T SNP PBX3 ENST00000373489 human ensembl 70_37 +1 known missense c.504 p.E168D 1.000 pfam_PBX pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PBX3 HGNC PBX3 5090 genome.wustl.edu 37 9 128724393 128724393 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 128724393 128724393 C A SNP PBX3 ENST00000373489 human ensembl 70_37 +1 known missense c.1022 p.S341Y 1.000 NULL pfam_PBX,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors PBX3 HGNC PCDH10 57575 genome.wustl.edu 37 4 134071547 134071547 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 134071547 134071547 C A SNP PCDH10 ENST00000264360 human ensembl 70_37 +1 known silent c.252 p.I84 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC PCDH11X 27328 genome.wustl.edu 37 X 91133869 91133869 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 91133869 91133869 C T SNP PCDH11X ENST00000373094 human ensembl 70_37 +1 known missense c.2630 p.S877F 1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11X HGNC PCDH15 65217 genome.wustl.edu 37 10 55892704 55892704 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 55892704 55892704 G A SNP PCDH15 ENST00000373956 human ensembl 70_37 -1 known missense c.155 p.S52F 1.000 NULL NULL - no_errors PCDH15 HGNC PCDHA1 56147 genome.wustl.edu 37 5 140166648 140166648 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140166648 140166648 G T SNP PCDHA1 ENST00000504120 human ensembl 70_37 +1 known missense c.773 p.G258V 0.585 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA1 HGNC PCDHA11 56138 genome.wustl.edu 37 5 140249718 140249718 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140249718 140249718 G T SNP PCDHA11 ENST00000398640 human ensembl 70_37 +1 known missense c.1030 p.D344Y 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC PCDHA13 56136 genome.wustl.edu 37 5 140262328 140262328 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140262328 140262328 G A SNP PCDHA13 ENST00000289272 human ensembl 70_37 +1 known missense c.475 p.D159N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA13 HGNC PCDHA7 56141 genome.wustl.edu 37 5 140214535 140214535 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140214535 140214535 A C SNP PCDHA7 ENST00000525929 human ensembl 70_37 +1 known silent c.567 p.V189 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA7 HGNC PCDHB6 56130 genome.wustl.edu 37 5 140530913 140530913 + Missense_Mutation SNP C C G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140530913 140530913 C G SNP PCDHB6 ENST00000231136 human ensembl 70_37 +1 known missense c.1075 p.P359A 0.863 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC PCDHB7 56129 genome.wustl.edu 37 5 140554024 140554024 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140554024 140554024 C T SNP PCDHB7 ENST00000231137 human ensembl 70_37 +1 known silent c.1608 p.R536 0.346 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC PCDHGA1 56114 genome.wustl.edu 37 5 140711803 140711803 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140711803 140711803 C T SNP PCDHGA1 ENST00000517417 human ensembl 70_37 +1 known nonsense c.1552 p.R518* 0.216 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC PCDHGA12 26025 genome.wustl.edu 37 5 140810713 140810713 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140810713 140810713 T C SNP PCDHGA12 ENST00000252085 human ensembl 70_37 +1 known silent c.387 p.N129 0.996 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC PCDHGA6 56109 genome.wustl.edu 37 5 140756057 140756057 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140756057 140756057 G T SNP PCDHGA6 ENST00000517434 human ensembl 70_37 +1 known nonsense c.2407 p.E803* 0.050 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC PCDHGC4 56098 genome.wustl.edu 37 5 140866758 140866758 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 140866758 140866758 T C SNP PCDHGC4 ENST00000306593 human ensembl 70_37 +1 known missense c.2018 p.V673A 0.958 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC4 HGNC PCED1B 91523 genome.wustl.edu 37 12 47629064 47629064 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 47629064 47629064 G A SNP PCED1B ENST00000432328 human ensembl 70_37 +1 known missense c.218 p.G73D 0.974 superfamily_Esterase_SGNH_hydro-type superfamily_Esterase_SGNH_hydro-type - no_errors PCED1B HGNC PCGF5 84333 genome.wustl.edu 37 10 93021139 93021139 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 93021139 93021139 A C SNP PCGF5 ENST00000336126 human ensembl 70_37 +1 known missense c.531 p.K177N 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF5 HGNC PCIF1 63935 genome.wustl.edu 37 20 44569771 44569771 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 44569771 44569771 G A SNP PCIF1 ENST00000372409 human ensembl 70_37 +1 known missense c.598 p.E200K 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 PCLO 27445 genome.wustl.edu 37 7 82763807 82763807 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 82763807 82763807 C A SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.3059 p.R1020I 0.854 superfamily_Znf_FYVE_PHD pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC PCNP 57092 genome.wustl.edu 37 3 101311687 101311687 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 101311687 101311687 G A SNP PCNP ENST00000486406 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PCNP HGNC PCNX 22990 genome.wustl.edu 37 14 71575464 71575464 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 71575464 71575464 C T SNP PCNX ENST00000304743 human ensembl 70_37 +1 known missense c.6445 p.R2149W 0.997 NULL pfam_Pecanex - no_errors PCNX HGNC PCSK5 5125 genome.wustl.edu 37 9 78953342 78953342 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 78953342 78953342 C A SNP PCSK5 ENST00000545128 human ensembl 70_37 +1 known missense c.4864 p.P1622T 0.978 superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_EG-like_dom pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC PDCD1LG2 80380 genome.wustl.edu 37 9 5549468 5549468 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 5549468 5549468 C A SNP PDCD1LG2 ENST00000397747 human ensembl 70_37 +1 known missense c.495 p.S165R 0.831 pfam_CD80_C2-set,pfscan_Ig-like pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like - no_errors PDCD1LG2 HGNC PDCD2 5134 genome.wustl.edu 37 6 170892755 170892755 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 170892755 170892755 C A SNP PDCD2 ENST00000541970 human ensembl 70_37 -1 known nonsense c.364 p.E122* 0.000 NULL pfam_PDCD2_C,pfam_Znf_MYND,pfscan_Znf_MYND - no_errors PDCD2 HGNC PDCD6IP 10015 genome.wustl.edu 37 3 33866819 33866819 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 33866819 33866819 A T SNP PDCD6IP ENST00000457054 human ensembl 70_37 +1 known missense c.603 p.L201F 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC PDCD6IP 10015 genome.wustl.edu 37 3 33906839 33906839 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 33906839 33906839 G A SNP PDCD6IP ENST00000457054 human ensembl 70_37 +1 known silent c.2364 p.A788 0.000 NULL pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC PDCD7 10081 genome.wustl.edu 37 15 65412231 65412231 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 65412231 65412231 T C SNP PDCD7 ENST00000204549 human ensembl 70_37 -1 known silent c.1071 p.K357 0.987 NULL NULL - no_errors PDCD7 HGNC PDE3A 5139 genome.wustl.edu 37 12 20799820 20799820 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 20799820 20799820 C A SNP PDE3A ENST00000359062 human ensembl 70_37 +1 known missense c.2501 p.A834D 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC PDE4B 5142 genome.wustl.edu 37 1 66458699 66458699 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 66458699 66458699 G A SNP PDE4B ENST00000423207 human ensembl 70_37 +1 known missense c.110 p.G37E 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC PDE4C 5143 genome.wustl.edu 37 19 18331347 18331347 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 18331347 18331347 G T SNP PDE4C ENST00000593594 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PDE4C HGNC PDE4DIP 9659 genome.wustl.edu 37 1 144952346 144952346 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 144952346 144952346 G A SNP PDE4DIP ENST00000369356 human ensembl 70_37 -1 known missense c.373 p.R125W 0.257 NULL pfam_Spindle_assoc,superfamily_ARM-type_fold - no_errors PDE4DIP HGNC PDE8A 5151 genome.wustl.edu 37 15 85619134 85619134 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 85619134 85619134 T G SNP PDE8A ENST00000310298 human ensembl 70_37 +1 known missense c.476 p.V159G 1.000 pfam_Sig_transdc_resp-reg_receiver,superfamily_CheY-like_superfamily pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8A HGNC PDGFRA 5156 genome.wustl.edu 37 4 55130043 55130043 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 55130043 55130043 G A SNP PDGFRA ENST00000257290 human ensembl 70_37 +1 known missense c.577 p.V193I 0.006 smart_Ig_sub,pirsf_Tyr_kinase_CSF1/PDGF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors PDGFRA HGNC PDGFRB 5159 genome.wustl.edu 37 5 149501549 149501549 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 149501549 149501549 G A SNP PDGFRB ENST00000261799 human ensembl 70_37 -1 known silent c.2238 p.D746 0.317 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors PDGFRB HGNC PDHX 8050 genome.wustl.edu 37 11 34999698 34999698 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 34999698 34999698 T G SNP PDHX ENST00000227868 human ensembl 70_37 +1 known missense c.992 p.F331C 1.000 pfam_2-oxoacid_DH_actylTfrase pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl - no_errors PDHX HGNC PDPK1 5170 genome.wustl.edu 37 16 2647264 2647264 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 2647264 2647264 C A SNP PDPK1 ENST00000342085 human ensembl 70_37 +1 known missense c.1542 p.F514L 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PDPK1 HGNC PDZD2 23037 genome.wustl.edu 37 5 32053919 32053919 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 32053919 32053919 A G SNP PDZD2 ENST00000282493 human ensembl 70_37 +1 known silent c.1830 p.G610 0.945 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC PDZD7 79955 genome.wustl.edu 37 10 102783339 102783339 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 102783339 102783339 C A SNP PDZD7 ENST00000370215 human ensembl 70_37 -1 known missense c.396 p.K132N 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD7 HGNC PDZD9 255762 genome.wustl.edu 37 16 21995716 21995716 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 21995716 21995716 A G SNP PDZD9 ENST00000424898 human ensembl 70_37 -1 known missense c.667 p.W223R 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD9 HGNC PER3 8863 genome.wustl.edu 37 1 7880210 7880210 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 7880210 7880210 G T SNP PER3 ENST00000361923 human ensembl 70_37 +1 known missense c.1670 p.R557I 0.995 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC PER3 8863 genome.wustl.edu 37 1 7897130 7897130 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 7897130 7897130 C A SNP PER3 ENST00000361923 human ensembl 70_37 +1 known missense c.3443 p.S1148Y 0.946 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC PEX5L 51555 genome.wustl.edu 37 3 179593175 179593175 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 179593175 179593175 G A SNP PEX5L ENST00000467460 human ensembl 70_37 -1 known missense c.596 p.S199F 0.976 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC PFDN1 5201 genome.wustl.edu 37 5 139680016 139680016 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 139680016 139680016 T C SNP PFDN1 ENST00000261813 human ensembl 70_37 -1 known missense c.185 p.E62G 1.000 pfam_PFD_beta-like,superfamily_Prefoldin pfam_PFD_beta-like,superfamily_Prefoldin - no_errors PFDN1 HGNC PFDN5 5204 genome.wustl.edu 37 12 53691642 53691642 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 53691642 53691642 C T SNP PFDN5 ENST00000243040 human ensembl 70_37 +1 known missense c.184 p.P62S 1.000 NULL superfamily_Prefoldin - no_errors PFDN5 HGNC PFKP 5214 genome.wustl.edu 37 10 3147455 3147455 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 3147455 3147455 C A SNP PFKP ENST00000460445 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PFKP HGNC PGBD1 84547 genome.wustl.edu 37 6 28269225 28269225 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 28269225 28269225 A C SNP PGBD1 ENST00000259883 human ensembl 70_37 +1 known missense c.1594 p.N532H 1.000 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_Srcr_rcpt,pfscan_Tscrpt_reg_SCAN - no_errors PGBD1 HGNC PGD 5226 genome.wustl.edu 37 1 10460491 10460491 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 10460491 10460491 C A SNP PGD ENST00000270776 human ensembl 70_37 +1 known missense c.126 p.F42L 1.000 pfam_6PGDH_NADP-bd,tigrfam_6PGDH_decarbox pfam_6PGDH_C,pfam_6PGDH_NADP-bd,superfamily_6-PGluconate_DH_C-like,tigrfam_6PGDH_decarbox - no_errors PGD HGNC PGM5 5239 genome.wustl.edu 37 9 70999424 70999424 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 70999424 70999424 G T SNP PGM5 ENST00000396396 human ensembl 70_37 +1 known nonsense c.535 p.E179* 1.000 superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC PGR 5241 genome.wustl.edu 37 11 100909965 100909965 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 100909965 100909965 A C SNP PGR ENST00000325455 human ensembl 70_37 -1 known missense c.2684 p.F895C 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC PHC1 1911 genome.wustl.edu 37 12 9089552 9089552 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 9089552 9089552 C T SNP PHC1 ENST00000251757 human ensembl 70_37 +1 known silent c.2469 p.C823 0.918 pfam_Znf_MYM,pfscan_Znf_FCS pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC1 HGNC PHF16 9767 genome.wustl.edu 37 X 46898451 46898451 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 46898451 46898451 C T SNP PHF16 ENST00000218343 human ensembl 70_37 +1 known missense c.956 p.T319M 0.998 smart_Znf_PHD pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF16 HGNC PHF16 9767 genome.wustl.edu 37 X 46918324 46918324 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 46918324 46918324 C T SNP PHF16 ENST00000218343 human ensembl 70_37 +1 known silent c.2317 p.L773 0.983 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF16 HGNC PHF8 23133 genome.wustl.edu 37 X 53966697 53966697 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 53966697 53966697 G A SNP PHF8 ENST00000357988 human ensembl 70_37 -1 known missense c.3010 p.R1004C 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 PHKA1 5255 genome.wustl.edu 37 X 71887265 71887265 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 71887265 71887265 G T SNP PHKA1 ENST00000373539 human ensembl 70_37 -1 known nonsense c.677 p.S226* 0.995 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC PHKA2 5256 genome.wustl.edu 37 X 18949833 18949833 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 18949833 18949833 C A SNP PHKA2 ENST00000379942 human ensembl 70_37 -1 known missense c.1171 p.D391Y 1.000 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA2 HGNC PHLDB2 90102 genome.wustl.edu 37 3 111603090 111603090 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 111603090 111603090 T G SNP PHLDB2 ENST00000393925 human ensembl 70_37 +1 known missense c.166 p.S56A 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC PHLDB2 90102 genome.wustl.edu 37 3 111681103 111681103 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 111681103 111681103 T C SNP PHLDB2 ENST00000393925 human ensembl 70_37 +1 known silent c.3021 p.D1007 0.994 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC PHLPP2 23035 genome.wustl.edu 37 16 71736609 71736609 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 71736609 71736609 G T SNP PHLPP2 ENST00000356272 human ensembl 70_37 -1 known missense c.310 p.L104I 1.000 NULL pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like - no_errors PHLPP2 HGNC PI4K2A 55361 genome.wustl.edu 37 10 99361706 99361706 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 99361706 99361706 G T SNP PI4K2A ENST00000555577 human ensembl 70_37 +1 known missense c.304 p.A102S 1.000 NULL pfam_PI3/4_kinase_cat_dom - no_errors PI4K2A HGNC PI4KA 5297 genome.wustl.edu 37 22 21088097 21088097 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 21088097 21088097 C T SNP PI4KA ENST00000255882 human ensembl 70_37 -1 known missense c.4087 p.D1363N 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC PIFO 128344 genome.wustl.edu 37 1 111893946 111893946 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 111893946 111893946 T G SNP PIFO ENST00000369738 human ensembl 70_37 +1 known missense c.573 p.N191K 0.000 NULL NULL - no_errors PIFO HGNC PIGA 5277 genome.wustl.edu 37 X 15349650 15349650 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 15349650 15349650 C T SNP PIGA ENST00000333590 human ensembl 70_37 -1 known missense c.403 p.A135T 1.000 pfam_PIGA_GPI_anchor_biosynthesis pfam_PIGA_GPI_anchor_biosynthesis,pfam_Glyco_trans_1 - no_errors PIGA HGNC PIGM 93183 genome.wustl.edu 37 1 160000262 160000262 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 160000262 160000262 T C SNP PIGM ENST00000368090 human ensembl 70_37 -1 known missense c.1268 p.D423G 0.649 NULL pfam_Mannosyltransferase_DXD - no_errors PIGM HGNC PIGO 84720 genome.wustl.edu 37 9 35089413 35089413 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 35089413 35089413 C T SNP PIGO ENST00000341666 human ensembl 70_37 -1 known missense c.3104 p.R1035H 1.000 NULL pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGO HGNC PIH1D2 120379 genome.wustl.edu 37 11 111943771 111943771 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 111943771 111943771 T G SNP PIH1D2 ENST00000280350 human ensembl 70_37 -1 known missense c.128 p.Q43P 0.071 pfam_PIH pfam_PIH - no_errors PIH1D2 HGNC PIH1D3 139212 genome.wustl.edu 37 X 106486435 106486435 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 106486435 106486435 T C SNP PIH1D3 ENST00000336387 human ensembl 70_37 +1 known silent c.552 p.C184 0.000 pfam_PIH pfam_PIH - no_errors PIH1D3 HGNC PIK3C2G 5288 genome.wustl.edu 37 12 18435082 18435082 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 18435082 18435082 G T SNP PIK3C2G ENST00000538779 human ensembl 70_37 +1 known nonsense c.67 p.E23* 0.021 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC PIK3C2G 5288 genome.wustl.edu 37 12 18576946 18576946 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 18576946 18576946 G A SNP PIK3C2G ENST00000538779 human ensembl 70_37 +1 known missense c.2477 p.S826N 0.999 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC PIK3CA 5290 genome.wustl.edu 37 3 178921533 178921533 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 178921533 178921533 C A SNP PIK3CA ENST00000263967 human ensembl 70_37 +1 known missense c.1015 p.L339I 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC PIKFYVE 200576 genome.wustl.edu 37 2 209138439 209138439 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 209138439 209138439 C A SNP PIKFYVE ENST00000264380 human ensembl 70_37 +1 known silent c.304 p.R102 0.993 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC PIWIL3 440822 genome.wustl.edu 37 22 25123947 25123947 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 25123947 25123947 A C SNP PIWIL3 ENST00000332271 human ensembl 70_37 -1 known missense c.2006 p.F669C 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL3 HGNC PKDREJ 10343 genome.wustl.edu 37 22 46655437 46655437 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 46655437 46655437 G A SNP PKDREJ ENST00000253255 human ensembl 70_37 -1 known silent c.3783 p.S1261 0.022 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2 pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_2,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKDREJ HGNC PKHD1L1 93035 genome.wustl.edu 37 8 110498980 110498980 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 110498980 110498980 T C SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known silent c.9810 p.G3270 0.968 superfamily_Pectin_lyase_fold/virulence pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC PLA2G16 11145 genome.wustl.edu 37 11 63342417 63342417 + Nonstop_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 63342417 63342417 T G SNP PLA2G16 ENST00000323646 human ensembl 70_37 -1 known nonstop c.489 p.*163Y 0.503 NULL pfam_LRAT-like_dom - no_errors PLA2G16 HGNC PLA2G4A 5321 genome.wustl.edu 37 1 186880397 186880397 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 186880397 186880397 G A SNP PLA2G4A ENST00000367466 human ensembl 70_37 +1 known missense c.434 p.R145Q 0.976 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom 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 PLA2G4A HGNC PLA2G4A 5321 genome.wustl.edu 37 1 186915853 186915853 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 186915853 186915853 T G SNP PLA2G4A ENST00000367466 human ensembl 70_37 +1 known missense c.1118 p.F373C 1.000 pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom 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 PLA2G4A HGNC PLA2G7 7941 genome.wustl.edu 37 6 46675822 46675822 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 46675822 46675822 A C SNP PLA2G7 ENST00000274793 human ensembl 70_37 -1 known missense c.946 p.F316V 1.000 pfam_PAF_acetylhydro,pirsf_Ac_Ohase_PAF pfam_PAF_acetylhydro,pirsf_Ac_Ohase_PAF - no_errors PLA2G7 HGNC PLAGL1 5325 genome.wustl.edu 37 6 144269240 144269240 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 144269240 144269240 T C SNP PLAGL1 ENST00000354765 human ensembl 70_37 -1 known missense c.34 p.T12A 0.135 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAGL1 HGNC PLCB1 23236 genome.wustl.edu 37 20 8713980 8713980 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 8713980 8713980 T G SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known missense c.1984 p.F662V 1.000 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,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 PLCB1 HGNC PLCB4 5332 genome.wustl.edu 37 20 9438100 9438100 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 9438100 9438100 C A SNP PLCB4 ENST00000334005 human ensembl 70_37 +1 known silent c.3000 p.I1000 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_Ca-dep,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 PLCB4 HGNC PLCE1 51196 genome.wustl.edu 37 10 96006107 96006107 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 96006107 96006107 A G SNP PLCE1 ENST00000371380 human ensembl 70_37 +1 known missense c.2825 p.K942R 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC PLCXD2 257068 genome.wustl.edu 37 3 111439761 111439761 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 111439761 111439761 T G SNP PLCXD2 ENST00000472215 human ensembl 70_37 +1 putative rna NULL NULL 0.883 - - - no_errors PLCXD2 HGNC PLCZ1 89869 genome.wustl.edu 37 12 18854471 18854471 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 18854471 18854471 T G SNP PLCZ1 ENST00000266505 human ensembl 70_37 -1 known missense c.981 p.K327N 0.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,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,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCZ1 HGNC PLEKHA5 54477 genome.wustl.edu 37 12 19506935 19506935 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 19506935 19506935 C T SNP PLEKHA5 ENST00000317589 human ensembl 70_37 +1 known missense c.2828 p.T943M 1.000 NULL pfam_Pleckstrin_homology,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_Rsp5_WWP - no_errors PLEKHA5 HGNC PLEKHA6 22874 genome.wustl.edu 37 1 204214041 204214041 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 204214041 204214041 G T SNP PLEKHA6 ENST00000272203 human ensembl 70_37 -1 known nonsense c.2123 p.S708* 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC PLEKHG1 57480 genome.wustl.edu 37 6 151055208 151055208 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 151055208 151055208 G T SNP PLEKHG1 ENST00000358517 human ensembl 70_37 +1 known missense c.391 p.D131Y 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC PLEKHM1 9842 genome.wustl.edu 37 17 43513298 43513298 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 43513298 43513298 C A SNP PLEKHM1 ENST00000580404 human ensembl 70_37 -1 known rna NULL NULL 0.802 - - - no_errors PLEKHM1 HGNC PLG 5340 genome.wustl.edu 37 6 161174003 161174003 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 161174003 161174003 T C SNP PLG ENST00000308192 human ensembl 70_37 +1 known silent c.2343 p.G781 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_plasmin,pfscan_Peptidase_S1_S6 pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Pept_S1A_plasmin,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PLG HGNC PLK4 10733 genome.wustl.edu 37 4 128813661 128813661 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 128813661 128813661 T G SNP PLK4 ENST00000270861 human ensembl 70_37 +1 known missense c.2180 p.F727C 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_cat_dom - no_errors PLK4 HGNC PLRG1 5356 genome.wustl.edu 37 4 155461841 155461841 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 155461841 155461841 G A SNP PLRG1 ENST00000393905 human ensembl 70_37 -1 known missense c.844 p.R282W 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PLRG1 HGNC PLXNA2 5362 genome.wustl.edu 37 1 208383573 208383573 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 208383573 208383573 C T SNP PLXNA2 ENST00000460870 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors PLXNA2 HGNC PLXNB3 5365 genome.wustl.edu 37 X 153040415 153040415 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 153040415 153040415 G A SNP PLXNB3 ENST00000538966 human ensembl 70_37 +1 known missense c.4081 p.E1361K 0.997 pfam_Plexin_cytoplasmic_RasGAP_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,pfam_Semaphorin/CD100_Ag,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 PLXNB3 HGNC PLXNC1 10154 genome.wustl.edu 37 12 94699043 94699043 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 94699043 94699043 G T SNP PLXNC1 ENST00000258526 human ensembl 70_37 +1 known missense c.4689 p.K1563N 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT_TIG_rcpt,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNC1 HGNC PMS1 5378 genome.wustl.edu 37 2 190660497 190660497 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 190660497 190660497 G T SNP PMS1 ENST00000441310 human ensembl 70_37 +1 known missense c.135 p.E45D 0.999 pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_HMG_superfamily,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC PMS1 5378 genome.wustl.edu 37 2 190738302 190738302 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 190738302 190738302 G T SNP PMS1 ENST00000441310 human ensembl 70_37 +1 known nonsense c.2554 p.E852* 1.000 NULL pfam_DNA_mismatch_repair_C,pfam_HMG_superfamily,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC PNLIP 5406 genome.wustl.edu 37 10 118307944 118307944 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 118307944 118307944 C A SNP PNLIP ENST00000369221 human ensembl 70_37 +1 known missense c.274 p.H92N 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipase_panc - no_errors PNLIP HGNC PNLIPRP1 5407 genome.wustl.edu 37 10 118354277 118354277 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 118354277 118354277 C T SNP PNLIPRP1 ENST00000358834 human ensembl 70_37 +1 known silent c.366 p.C122 0.401 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc,prints_Lipase pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP1 HGNC PNPO 55163 genome.wustl.edu 37 17 46020749 46020749 + Nonsense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 46020749 46020749 T A SNP PNPO ENST00000225573 human ensembl 70_37 +1 known nonsense c.216 p.C72* 1.000 superfamily_Split_barrel_FMN-bd-related,tigrfam_Pyridox_Oxase pfam_Pyridox_Oxase_FMN-bd,pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd-related,tigrfam_Pyridox_Oxase - no_errors PNPO HGNC PNPT1 87178 genome.wustl.edu 37 2 55906874 55906874 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 55906874 55906874 C A SNP PNPT1 ENST00000415374 human ensembl 70_37 -1 known nonsense c.622 p.E208* 1.000 pfam_ExoRNase_PH_dom2,superfamily_ExoRNase_PH_dom2,pirsf_PNPase,tigrfam_PNPase pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,pfam_PNPase_PH_RNA-bd_bac/org-type,pfam_KH_dom_type_1,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2,superfamily_PNPase_PH_RNA-bd_bac/org-type,superfamily_NA-bd_OB-fold-like,smart_KH_dom,smart_RNA-binding_domain_S1,pirsf_PNPase,pfscan_KH_dom_type_1,pfscan_Rbsml_prot_S1_RNA-bd_dom,tigrfam_PNPase - no_errors PNPT1 HGNC POLA1 5422 genome.wustl.edu 37 X 25013932 25013932 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 25013932 25013932 G T SNP POLA1 ENST00000379068 human ensembl 70_37 +1 known missense c.4272 p.K1424N 0.557 pfam_Znf_DNA-dir_DNA_pol_B_alpha pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_Znf_DNA-dir_DNA_pol_B_alpha,pfam_DNA_pol_a_cat_su_N,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLA1 HGNC POLE 5426 genome.wustl.edu 37 12 133215718 133215718 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 133215718 133215718 A C SNP POLE ENST00000455752 human ensembl 70_37 -1 known missense c.5578 p.F1860V 1.000 pfam_DNA_pol_e_suA_C pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC POLE 5426 genome.wustl.edu 37 12 133253151 133253151 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 133253151 133253151 G A SNP POLE ENST00000455752 human ensembl 70_37 -1 known missense c.923 p.S308F 1.000 pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC POLG2 11232 genome.wustl.edu 37 17 62488865 62488865 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 62488865 62488865 C T SNP POLG2 ENST00000539111 human ensembl 70_37 -1 known silent c.714 p.S238 0.001 NULL pfam_Anticodon-bd,superfamily_Anticodon-bd - no_errors POLG2 HGNC POLI 11201 genome.wustl.edu 37 18 51809299 51809299 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 51809299 51809299 G T SNP POLI ENST00000579534 human ensembl 70_37 +1 known nonsense c.889 p.E297* 1.000 pfam_DNA_pol_Y-fam_little_finger pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLI HGNC POLN 353497 genome.wustl.edu 37 4 2176478 2176478 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 2176478 2176478 C A SNP POLN ENST00000382865 human ensembl 70_37 -1 known missense c.1249 p.D417Y 0.914 superfamily_RNaseH-like_dom pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA_polymerase_A - no_errors POLN HGNC POLQ 10721 genome.wustl.edu 37 3 121209199 121209199 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 121209199 121209199 C T SNP POLQ ENST00000264233 human ensembl 70_37 -1 known missense c.2579 p.R860Q 1.000 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC POLR2A 5430 genome.wustl.edu 37 17 7403990 7403990 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 7403990 7403990 G A SNP POLR2A ENST00000322644 human ensembl 70_37 +1 known silent c.1704 p.S568 0.214 pfam_RNA_pol_Rpb1_3 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N - no_errors POLR2A HGNC POLR2H 5437 genome.wustl.edu 37 3 184082932 184082932 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 184082932 184082932 C T SNP POLR2H ENST00000296223 human ensembl 70_37 +1 known missense c.169 p.R57W 1.000 pfam_RNA_pol_Rpb8,superfamily_NA-bd_OB-fold-like,smart_RNA_pol_Rpb8,pirsf_RNA_pol_Rpb8 pfam_RNA_pol_Rpb8,superfamily_NA-bd_OB-fold-like,smart_RNA_pol_Rpb8,pirsf_RNA_pol_Rpb8 - no_errors POLR2H HGNC POLR3B 55703 genome.wustl.edu 37 12 106830853 106830853 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 106830853 106830853 G T SNP POLR3B ENST00000228347 human ensembl 70_37 +1 known missense c.1800 p.K600N 1.000 pfam_RNA_pol_Rpb2_4 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC POM121 9883 genome.wustl.edu 37 7 72416226 72416226 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 72416226 72416226 T G SNP POM121 ENST00000434423 human ensembl 70_37 +1 known missense c.3631 p.F1211V 0.992 NULL NULL - no_errors POM121 HGNC POMC 5443 genome.wustl.edu 37 2 25387631 25387631 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 25387631 25387631 G A SNP POMC ENST00000264708 human ensembl 70_37 -1 known missense c.11 p.S4L 0.000 NULL pfam_Mcrtin_ACTH_cent,pfam_Melanocortin_N,pfam_Opioid_neuropept,prints_Mcortin_ACTH - no_errors POMC HGNC POMGNT1 55624 genome.wustl.edu 37 1 46657887 46657887 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 46657887 46657887 A C SNP POMGNT1 ENST00000371986 human ensembl 70_37 -1 known missense c.1422 p.D474E 1.000 pfam_Glyco_trans_13 pfam_Glyco_trans_13 - no_errors POMGNT1 HGNC POMT2 29954 genome.wustl.edu 37 14 77751885 77751885 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 77751885 77751885 G A SNP POMT2 ENST00000261534 human ensembl 70_37 -1 known missense c.1423 p.R475C 1.000 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif pfam_Glyco_trans_39,pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors POMT2 HGNC PON2 5445 genome.wustl.edu 37 7 95053833 95053833 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 95053833 95053833 C T SNP PON2 ENST00000536183 human ensembl 70_37 -1 known missense c.202 p.G68R 1.000 prints_Arylesterase pfam_Arylesterase,pfam_SGL,prints_Arylesterase,prints_Paraoxonase2 - no_errors PON2 HGNC PORCN 64840 genome.wustl.edu 37 X 48369723 48369723 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 48369723 48369723 C T SNP PORCN ENST00000326194 human ensembl 70_37 +1 known silent c.177 p.G59 0.787 NULL pfam_MBOAT_fam - no_errors PORCN HGNC PORCN 64840 genome.wustl.edu 37 X 48371045 48371045 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 48371045 48371045 T G SNP PORCN ENST00000326194 human ensembl 70_37 +1 known silent c.624 p.T208 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors PORCN HGNC POSTN 10631 genome.wustl.edu 37 13 38171338 38171338 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 38171338 38171338 G T SNP POSTN ENST00000379747 human ensembl 70_37 -1 known silent c.201 p.S67 1.000 pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC POU2F3 25833 genome.wustl.edu 37 11 120176482 120176482 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 120176482 120176482 C T SNP POU2F3 ENST00000543440 human ensembl 70_37 +1 known silent c.763 p.L255 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pfscan_Homeodomain,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F3 HGNC POU3F4 5456 genome.wustl.edu 37 X 82763444 82763444 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 82763444 82763444 C A SNP POU3F4 ENST00000373200 human ensembl 70_37 +1 known missense c.112 p.L38I 1.000 pirsf_Transcription_factor_POU pfam_POU_specific,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeodomain,pirsf_Transcription_factor_POU,pfscan_Homeodomain,pfscan_POU_specific,prints_POU - no_errors POU3F4 HGNC PP2D1 151649 genome.wustl.edu 37 3 20043508 20043508 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 20043508 20043508 C A SNP PP2D1 ENST00000389050 human ensembl 70_37 -1 known missense c.104 p.R35I 0.000 NULL pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like - no_errors PP2D1 HGNC PPARD 5467 genome.wustl.edu 37 6 35391729 35391729 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 35391729 35391729 G A SNP PPARD ENST00000311565 human ensembl 70_37 +1 known missense c.431 p.R144H 1.000 prints_Str_hrmn_rcpt,pfscan_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A,pfscan_Znf_hrmn_rcpt - no_errors PPARD HGNC PPARGC1B 133522 genome.wustl.edu 37 5 149215909 149215909 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 149215909 149215909 G T SNP PPARGC1B ENST00000309241 human ensembl 70_37 +1 known nonsense c.1891 p.E631* 0.600 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1B HGNC PPEF2 5470 genome.wustl.edu 37 4 76797520 76797520 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 76797520 76797520 C A SNP PPEF2 ENST00000286719 human ensembl 70_37 -1 known nonsense c.1240 p.E414* 0.016 pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_Metallo_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF2 HGNC PPFIA1 8500 genome.wustl.edu 37 11 70194459 70194459 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 70194459 70194459 G A SNP PPFIA1 ENST00000253925 human ensembl 70_37 +1 known missense c.2096 p.R699H 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC PPFIA2 8499 genome.wustl.edu 37 12 81747087 81747087 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 81747087 81747087 C A SNP PPFIA2 ENST00000549396 human ensembl 70_37 -1 known missense c.1805 p.R602I 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC PPIL3 53938 genome.wustl.edu 37 2 201750451 201750451 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 201750451 201750451 G T SNP PPIL3 ENST00000286175 human ensembl 70_37 -1 known silent c.48 p.V16 0.996 superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL3 HGNC PPP1R12B 4660 genome.wustl.edu 37 1 202471087 202471087 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 202471087 202471087 G T SNP PPP1R12B ENST00000466273 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors PPP1R12B HGNC PPP1R3A 5506 genome.wustl.edu 37 7 113518224 113518224 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 113518224 113518224 C A SNP PPP1R3A ENST00000284601 human ensembl 70_37 -1 known nonsense c.2923 p.E975* 0.250 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC PPP2R2A 5520 genome.wustl.edu 37 8 26217696 26217696 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 26217696 26217696 A C SNP PPP2R2A ENST00000380737 human ensembl 70_37 +1 known missense c.358 p.K120Q 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2A HGNC PPP2R2B 5521 genome.wustl.edu 37 5 145969747 145969747 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 145969747 145969747 G A SNP PPP2R2B ENST00000394414 human ensembl 70_37 -1 known silent c.1293 p.F431 0.995 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2B HGNC PPP2R5A 5525 genome.wustl.edu 37 1 212502486 212502486 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 212502486 212502486 C A SNP PPP2R5A ENST00000261461 human ensembl 70_37 +1 known nonsense c.191 p.S64* 1.000 pfam_PP2A_B56,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5A HGNC PPP3CA 5530 genome.wustl.edu 37 4 102004359 102004359 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 102004359 102004359 C T SNP PPP3CA ENST00000394854 human ensembl 70_37 -1 known missense c.844 p.E282K 1.000 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CA HGNC PPP5C 5536 genome.wustl.edu 37 19 46850429 46850429 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 46850429 46850429 A G SNP PPP5C ENST00000012443 human ensembl 70_37 +1 known missense c.76 p.K26E 1.000 pirsf_Ser/Thr_PPase_5 pfam_Metallo_PEstase_dom,pfam_PPP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC PQLC3 130814 genome.wustl.edu 37 2 11312118 11312118 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 11312118 11312118 A C SNP PQLC3 ENST00000295083 human ensembl 70_37 +1 known missense c.422 p.D141A 1.000 pirsf_MannP-dilichol_defect-1 pirsf_MannP-dilichol_defect-1 - no_errors PQLC3 HGNC PRB3 5544 genome.wustl.edu 37 12 11420539 11420539 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 11420539 11420539 G A SNP PRB3 ENST00000538488 human ensembl 70_37 -1 known missense c.581 p.S194F 0.000 NULL NULL - no_errors PRB3 HGNC PRB3 5544 genome.wustl.edu 37 12 11420602 11420602 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 11420602 11420602 G A SNP PRB3 ENST00000381842 human ensembl 70_37 -1 known missense c.581 p.S194F 0.000 NULL NULL - no_errors PRB3 HGNC PRDM16 63976 genome.wustl.edu 37 1 3313156 3313156 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 3313156 3313156 C T SNP PRDM16 ENST00000270722 human ensembl 70_37 +1 known silent c.675 p.D225 0.987 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC PRDM9 56979 genome.wustl.edu 37 5 23524514 23524514 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 23524514 23524514 A T SNP PRDM9 ENST00000296682 human ensembl 70_37 +1 known missense c.1022 p.Y341F 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 PRDM9 56979 genome.wustl.edu 37 5 23526462 23526462 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 23526462 23526462 G T SNP PRDM9 ENST00000296682 human ensembl 70_37 +1 known missense c.1265 p.R422I 0.994 NULL 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 PREB 10113 genome.wustl.edu 37 2 27355999 27355999 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 27355999 27355999 C T SNP PREB ENST00000260643 human ensembl 70_37 -1 known missense c.532 p.V178I 0.260 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PREB HGNC PREP 5550 genome.wustl.edu 37 6 105736680 105736680 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 105736680 105736680 G T SNP PREP ENST00000369110 human ensembl 70_37 -1 known missense c.1407 p.F469L 1.000 prints_Peptidase_S9A pfam_Peptidase_S9A_B_C_N,pfam_Peptidase_S9,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A - no_errors PREP HGNC PREX1 57580 genome.wustl.edu 37 20 47444178 47444178 + Splice_Site SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 47444178 47444178 C T SNP PREX1 ENST00000371941 human ensembl 70_37 -1 known splice_site c.219+1 e1+1 1.000 - - - no_errors PREX1 HGNC PRIM2 5558 genome.wustl.edu 37 6 57393103 57393103 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 57393103 57393103 T G SNP PRIM2 ENST00000550475 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors PRIM2 HGNC PRKCD 5580 genome.wustl.edu 37 3 53213604 53213604 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 53213604 53213604 A C SNP PRKCD ENST00000330452 human ensembl 70_37 +1 known missense c.127 p.T43P 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCD HGNC PRKD1 5587 genome.wustl.edu 37 14 30066829 30066829 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 30066829 30066829 A C SNP PRKD1 ENST00000331968 human ensembl 70_37 -1 known missense c.2302 p.S768A 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd - no_errors PRKD1 HGNC PRKG2 5593 genome.wustl.edu 37 4 82056359 82056359 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 82056359 82056359 C A SNP PRKG2 ENST00000264399 human ensembl 70_37 -1 known missense c.1726 p.D576Y 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC PRLHR 2834 genome.wustl.edu 37 10 120354249 120354249 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 120354249 120354249 G A SNP PRLHR ENST00000239032 human ensembl 70_37 -1 known missense c.508 p.R170C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PRLHR HGNC PRMT10 90826 genome.wustl.edu 37 4 148563981 148563981 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 148563981 148563981 C T SNP PRMT10 ENST00000322396 human ensembl 70_37 -1 known missense c.2156 p.R719H 0.651 NULL pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRMT10 HGNC PROKR2 128674 genome.wustl.edu 37 20 5294961 5294961 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 5294961 5294961 C A SNP PROKR2 ENST00000217270 human ensembl 70_37 -1 known missense c.55 p.D19Y 0.995 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC PROX2 283571 genome.wustl.edu 37 14 75323691 75323691 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 75323691 75323691 C T SNP PROX2 ENST00000445876 human ensembl 70_37 -1 known missense c.1421 p.R474H 1.000 pfam_Prox1,superfamily_Homeodomain-like pfam_Prox1,superfamily_Homeodomain-like - no_errors PROX2 HGNC PRPF38A 84950 genome.wustl.edu 37 1 52870415 52870415 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 52870415 52870415 T G SNP PRPF38A ENST00000474048 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors PRPF38A HGNC PRPF40B 25766 genome.wustl.edu 37 12 50025316 50025316 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 50025316 50025316 C T SNP PRPF40B ENST00000380281 human ensembl 70_37 +1 known missense c.151 p.P51S 1.000 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors PRPF40B HGNC PRPF40B 25766 genome.wustl.edu 37 12 50029253 50029253 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 50029253 50029253 G T SNP PRPF40B ENST00000380281 human ensembl 70_37 +1 known missense c.1206 p.E402D 1.000 superfamily_FF_domain pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors PRPF40B HGNC PRRG2 5639 genome.wustl.edu 37 19 50086923 50086923 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 50086923 50086923 G T SNP PRRG2 ENST00000246794 human ensembl 70_37 +1 known missense c.210 p.E70D 0.398 pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG2 HGNC PRSS38 339501 genome.wustl.edu 37 1 228003518 228003518 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 228003518 228003518 T C SNP PRSS38 ENST00000366757 human ensembl 70_37 +1 known missense c.101 p.V34A 0.000 NULL pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors PRSS38 HGNC PRTFDC1 56952 genome.wustl.edu 37 10 25140370 25140370 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 25140370 25140370 A C SNP PRTFDC1 ENST00000320152 human ensembl 70_37 -1 known missense c.577 p.L193V 0.903 tigrfam_Hxn_phspho_trans pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans - no_errors PRTFDC1 HGNC PRX 57716 genome.wustl.edu 37 19 40900087 40900087 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 40900087 40900087 C T SNP PRX ENST00000324001 human ensembl 70_37 -1 known missense c.4172 p.R1391Q 0.003 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC PSEN1 5663 genome.wustl.edu 37 14 73659433 73659433 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 73659433 73659433 G T SNP PSEN1 ENST00000324501 human ensembl 70_37 +1 known missense c.630 p.M210I 1.000 pfam_Peptidase_A22A,smart_Peptidase_A22 pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A - no_errors PSEN1 HGNC PSEN1 5663 genome.wustl.edu 37 14 73685914 73685914 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 73685914 73685914 T G SNP PSEN1 ENST00000324501 human ensembl 70_37 +1 known missense c.1321 p.F441V 1.000 pfam_Peptidase_A22A,smart_Peptidase_A22 pfam_Peptidase_A22A,smart_Peptidase_A22,prints_Pept_A22A_PS1,prints_Peptidase_A22A - no_errors PSEN1 HGNC PSMC6 5706 genome.wustl.edu 37 14 53184808 53184808 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 53184808 53184808 A C SNP PSMC6 ENST00000445930 human ensembl 70_37 +1 known missense c.581 p.K194T 1.000 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC6 HGNC PSMD10 5716 genome.wustl.edu 37 X 107330968 107330968 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 107330968 107330968 G T SNP PSMD10 ENST00000217958 human ensembl 70_37 -1 known missense c.475 p.L159M 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PSMD10 HGNC PSME4 23198 genome.wustl.edu 37 2 54154547 54154547 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 54154547 54154547 C A SNP PSME4 ENST00000404125 human ensembl 70_37 -1 known missense c.1577 p.R526I 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC PTBP2 58155 genome.wustl.edu 37 1 97279084 97279084 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 97279084 97279084 T G SNP PTBP2 ENST00000482253 human ensembl 70_37 +1 known rna NULL NULL 0.341 - - - no_errors PTBP2 HGNC PTCH2 8643 genome.wustl.edu 37 1 45294014 45294014 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 45294014 45294014 G A SNP PTCH2 ENST00000372192 human ensembl 70_37 -1 known missense c.1663 p.R555W 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC PTCHD2 57540 genome.wustl.edu 37 1 11561252 11561252 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 11561252 11561252 T C SNP PTCHD2 ENST00000294484 human ensembl 70_37 +1 known missense c.203 p.F68S 1.000 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors PTCHD2 HGNC PTEN 5728 genome.wustl.edu 37 10 89692905 89692905 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 89692905 89692905 G A SNP PTEN ENST00000371953 human ensembl 70_37 +1 known missense c.389 p.R130Q 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC PTEN 5728 genome.wustl.edu 37 10 89720822 89720822 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 89720822 89720822 C T SNP PTEN ENST00000371953 human ensembl 70_37 +1 known missense c.973 p.L325F 1.000 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC PTENP1 11191 genome.wustl.edu 37 9 33674910 33674910 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 33674910 33674910 T G SNP PTENP1 ENST00000532280 human ensembl 70_37 -1 known rna NULL NULL 0.701 - - - no_errors PTENP1 HGNC PTENP1 11191 genome.wustl.edu 37 9 33676404 33676404 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 33676404 33676404 A C SNP PTENP1 ENST00000532280 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors PTENP1 HGNC PTGER4 5734 genome.wustl.edu 37 5 40681118 40681118 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 40681118 40681118 C T SNP PTGER4 ENST00000302472 human ensembl 70_37 +1 known missense c.23 p.S8L 0.018 prints_Prost_EP4_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC PTGR1 22949 genome.wustl.edu 37 9 114359674 114359674 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 114359674 114359674 T G SNP PTGR1 ENST00000309195 human ensembl 70_37 -1 known missense c.29 p.K10T 1.000 superfamily_GroES-like,tigrfam_B4_12hDH pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH - no_errors PTGR1 HGNC PTGS2 5743 genome.wustl.edu 37 1 186648219 186648219 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 186648219 186648219 C T SNP PTGS2 ENST00000367468 human ensembl 70_37 -1 known missense c.284 p.R95Q 0.848 superfamily_Haem_peroxidase pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS2 HGNC PTK2 5747 genome.wustl.edu 37 8 141813692 141813692 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 141813692 141813692 C A SNP PTK2 ENST00000395218 human ensembl 70_37 -1 known missense c.925 p.D309Y 1.000 pfscan_FERM_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2 HGNC PTPN1 5770 genome.wustl.edu 37 20 49191165 49191165 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 49191165 49191165 C T SNP PTPN1 ENST00000371621 human ensembl 70_37 +1 known nonsense c.466 p.R156* 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-1/2,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-1/2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN1 HGNC PTPN13 5783 genome.wustl.edu 37 4 87731118 87731118 + Nonsense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 87731118 87731118 T G SNP PTPN13 ENST00000436978 human ensembl 70_37 +1 known nonsense c.7295 p.L2432* 0.997 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC PTPN5 84867 genome.wustl.edu 37 11 18751071 18751071 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 18751071 18751071 G T SNP PTPN5 ENST00000358540 human ensembl 70_37 -1 known silent c.1533 p.I511 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN5 HGNC PTPRD 5789 genome.wustl.edu 37 9 8389318 8389318 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 8389318 8389318 C T SNP PTPRD ENST00000356435 human ensembl 70_37 -1 known missense c.4300 p.E1434K 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRD HGNC PTPRF 5792 genome.wustl.edu 37 1 44044575 44044575 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 44044575 44044575 G A SNP PTPRF ENST00000359947 human ensembl 70_37 +1 known silent c.663 p.A221 0.726 smart_Ig_sub,pfscan_Ig-like pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC PTPRG 5793 genome.wustl.edu 37 3 62153697 62153697 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 62153697 62153697 C T SNP PTPRG ENST00000474889 human ensembl 70_37 +1 known missense c.893 p.S298L 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRG HGNC PTPRH 5794 genome.wustl.edu 37 19 55713513 55713513 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 55713513 55713513 C A SNP PTPRH ENST00000376350 human ensembl 70_37 -1 known missense c.1064 p.R355I 0.025 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRH HGNC PTPRO 5800 genome.wustl.edu 37 12 15718545 15718545 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 15718545 15718545 G T SNP PTPRO ENST00000281171 human ensembl 70_37 +1 known missense c.2730 p.K910N 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC PTPRQ 374462 genome.wustl.edu 37 12 80838173 80838173 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 80838173 80838173 G T SNP PTPRQ ENST00000266688 human ensembl 70_37 +1 known missense c.48 p.E16D 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC PTPRZ1 5803 genome.wustl.edu 37 7 121608065 121608065 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 121608065 121608065 C A SNP PTPRZ1 ENST00000393386 human ensembl 70_37 +1 known missense c.185 p.S62Y 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC PURA 5813 genome.wustl.edu 37 5 139494072 139494072 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 139494072 139494072 C T SNP PURA ENST00000331327 human ensembl 70_37 +1 known silent c.306 p.L102 1.000 pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURA HGNC PVRL3 25945 genome.wustl.edu 37 3 110837539 110837539 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 110837539 110837539 C A SNP PVRL3 ENST00000485303 human ensembl 70_37 +1 known missense c.539 p.S180Y 1.000 pfam_CD80_C2-set,pfscan_Ig-like pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like - no_errors PVRL3 HGNC PXDN 7837 genome.wustl.edu 37 2 1652209 1652209 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 1652209 1652209 C T SNP PXDN ENST00000252804 human ensembl 70_37 -1 known missense c.3343 p.D1115N 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC PXDN 7837 genome.wustl.edu 37 2 1652918 1652918 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 1652918 1652918 G A SNP PXDN ENST00000252804 human ensembl 70_37 -1 known silent c.2634 p.F878 0.996 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC QSER1 79832 genome.wustl.edu 37 11 32953621 32953621 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 32953621 32953621 C A SNP QSER1 ENST00000399302 human ensembl 70_37 +1 known missense c.430 p.L144I 1.000 NULL NULL - no_errors QSER1 HGNC QSOX1 5768 genome.wustl.edu 37 1 180158779 180158779 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 180158779 180158779 C A SNP QSOX1 ENST00000367602 human ensembl 70_37 +1 known missense c.1110 p.F370L 0.025 NULL pfam_Evr1_Alr,pfam_Thioredoxin_domain,superfamily_Evr1_Alr,superfamily_Thioredoxin-like_fold - no_errors QSOX1 HGNC R3HDM1 23518 genome.wustl.edu 37 2 136389450 136389450 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 136389450 136389450 C T SNP R3HDM1 ENST00000264160 human ensembl 70_37 +1 known missense c.577 p.P193S 1.000 pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors R3HDM1 HGNC RAB31 11031 genome.wustl.edu 37 18 9815133 9815133 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 9815133 9815133 G T SNP RAB31 ENST00000306096 human ensembl 70_37 +1 known missense c.294 p.K98N 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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 RAB31 HGNC RAB39B 116442 genome.wustl.edu 37 X 154490247 154490247 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 154490247 154490247 C A SNP RAB39B ENST00000369454 human ensembl 70_37 -1 known missense c.483 p.E161D 1.000 pfam_Small_GTPase,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_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 RAB39B HGNC RAB3GAP2 25782 genome.wustl.edu 37 1 220440682 220440682 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 220440682 220440682 A G SNP RAB3GAP2 ENST00000462353 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RAB3GAP2 HGNC RAB8B 51762 genome.wustl.edu 37 15 63481897 63481897 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 63481897 63481897 T G SNP RAB8B ENST00000321437 human ensembl 70_37 +1 known missense c.74 p.L25R 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,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_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,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 RAB8B HGNC RABGGTA 5875 genome.wustl.edu 37 14 24737824 24737824 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 24737824 24737824 A G SNP RABGGTA ENST00000216840 human ensembl 70_37 -1 known missense c.902 p.L301P 1.000 pfam_RabGGT_asu_insert-domain,superfamily_RabGGT_asu_insert-domain pfam_Prenyl_trans_a,pfam_RabGGT_asu_insert-domain,pfam_Leu-rich_rpt,superfamily_RabGGT_asu_insert-domain,pfscan_Prenyl_trans_a - no_errors RABGGTA HGNC RABGGTB 5876 genome.wustl.edu 37 1 76255787 76255787 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 76255787 76255787 A C SNP RABGGTB ENST00000461653 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors RABGGTB HGNC RABL2B 11158 genome.wustl.edu 37 22 51205966 51205966 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 51205966 51205966 A C SNP RABL2B ENST00000465063 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RABL2B HGNC RAC3 5881 genome.wustl.edu 37 17 79991391 79991391 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 79991391 79991391 G T SNP RAC3 ENST00000306897 human ensembl 70_37 +1 known missense c.364 p.D122Y 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAC3 HGNC RAD54L2 23132 genome.wustl.edu 37 3 51661692 51661692 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 51661692 51661692 A G SNP RAD54L2 ENST00000409535 human ensembl 70_37 +1 known missense c.263 p.H88R 0.949 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors RAD54L2 HGNC RAI2 10742 genome.wustl.edu 37 X 17818545 17818545 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 17818545 17818545 C A SNP RAI2 ENST00000331511 human ensembl 70_37 -1 known missense c.1586 p.R529I 1.000 NULL NULL - no_errors RAI2 HGNC RAI2 10742 genome.wustl.edu 37 X 17818979 17818979 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 17818979 17818979 A C SNP RAI2 ENST00000331511 human ensembl 70_37 -1 known missense c.1152 p.I384M 0.012 NULL NULL - no_errors RAI2 HGNC RALGPS1 9649 genome.wustl.edu 37 9 129977105 129977105 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 129977105 129977105 A C SNP RALGPS1 ENST00000259351 human ensembl 70_37 +1 known missense c.1628 p.K543T 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS1 HGNC RALGPS2 55103 genome.wustl.edu 37 1 178753625 178753625 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 178753625 178753625 G A SNP RALGPS2 ENST00000367635 human ensembl 70_37 +1 known missense c.130 p.D44N 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC RALGPS2 55103 genome.wustl.edu 37 1 178875917 178875917 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 178875917 178875917 C T SNP RALGPS2 ENST00000367635 human ensembl 70_37 +1 known missense c.1637 p.S546L 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_RasGRF_CDC25 - no_errors RALGPS2 HGNC RANBP2 5903 genome.wustl.edu 37 2 109345596 109345596 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 109345596 109345596 G T SNP RANBP2 ENST00000283195 human ensembl 70_37 +1 known missense c.81 p.M27I 1.000 pfscan_TPR-contain_dom pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC RANBP3L 202151 genome.wustl.edu 37 5 36271364 36271364 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 36271364 36271364 T G SNP RANBP3L ENST00000296604 human ensembl 70_37 -1 known missense c.141 p.Q47H 0.591 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3L HGNC RANBP6 26953 genome.wustl.edu 37 9 6012865 6012865 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 6012865 6012865 G A SNP RANBP6 ENST00000259569 human ensembl 70_37 -1 known missense c.2743 p.R915W 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC RANBP6 26953 genome.wustl.edu 37 9 6013473 6013473 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 6013473 6013473 A G SNP RANBP6 ENST00000259569 human ensembl 70_37 -1 known missense c.2135 p.V712A 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC RAP1A 5906 genome.wustl.edu 37 1 112247085 112247085 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 112247085 112247085 A G SNP RAP1A ENST00000356415 human ensembl 70_37 +1 known missense c.445 p.K149E 1.000 pfam_Small_GTPase,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 RAP1A HGNC RAPH1 65059 genome.wustl.edu 37 2 204360053 204360053 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 204360053 204360053 T G SNP RAPH1 ENST00000374493 human ensembl 70_37 -1 known missense c.24 p.E8D 1.000 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC RARB 5915 genome.wustl.edu 37 3 25636077 25636077 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 25636077 25636077 A C SNP RARB ENST00000404969 human ensembl 70_37 +1 known missense c.1079 p.K360T 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Retinoic_acid_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC RASA1 5921 genome.wustl.edu 37 5 86658380 86658380 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 86658380 86658380 G T SNP RASA1 ENST00000274376 human ensembl 70_37 +1 known missense c.1345 p.V449L 1.000 NULL pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC RASA3 22821 genome.wustl.edu 37 13 114751116 114751116 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 114751116 114751116 T C SNP RASA3 ENST00000334062 human ensembl 70_37 -1 known missense c.2399 p.D800G 1.000 NULL pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP,prints_Znf_Btk_motif - no_errors RASA3 HGNC RASAL2-AS1 100302401 genome.wustl.edu 37 1 178061994 178061994 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 178061994 178061994 A C SNP RASAL2-AS1 ENST00000419458 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RASAL2-AS1 HGNC RASAL3 64926 genome.wustl.edu 37 19 15563952 15563952 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 15563952 15563952 T C SNP RASAL3 ENST00000343625 human ensembl 70_37 -1 known missense c.2636 p.N879S 0.065 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC RASSF5 83593 genome.wustl.edu 37 1 206762592 206762592 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 206762592 206762592 C T SNP RASSF5 ENST00000481486 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors RASSF5 HGNC RASSF8 11228 genome.wustl.edu 37 12 26217828 26217828 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 26217828 26217828 G T SNP RASSF8 ENST00000282884 human ensembl 70_37 +1 known missense c.501 p.K167N 1.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF8 HGNC RB1CC1 9821 genome.wustl.edu 37 8 53573785 53573785 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 53573785 53573785 A C SNP RB1CC1 ENST00000025008 human ensembl 70_37 -1 known missense c.1415 p.L472W 1.000 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC RBFOX1 54715 genome.wustl.edu 37 16 6367009 6367009 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 6367009 6367009 G T SNP RBFOX1 ENST00000547372 human ensembl 70_37 +1 known missense c.17 p.R6I 0.967 NULL pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC RBM15 64783 genome.wustl.edu 37 1 110889277 110889277 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 110889277 110889277 T C SNP RBM15 ENST00000487146 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RBM15 HGNC RBM27 54439 genome.wustl.edu 37 5 145648833 145648833 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 145648833 145648833 G T SNP RBM27 ENST00000265271 human ensembl 70_37 +1 known nonsense c.2515 p.E839* 1.000 NULL pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC RBM44 375316 genome.wustl.edu 37 2 238725989 238725989 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 238725989 238725989 G T SNP RBM44 ENST00000316997 human ensembl 70_37 +1 known missense c.430 p.V144F 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC RBM45 129831 genome.wustl.edu 37 2 178982797 178982797 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 178982797 178982797 G A SNP RBM45 ENST00000286070 human ensembl 70_37 +1 known missense c.439 p.E147K 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM45 HGNC RBM7 10179 genome.wustl.edu 37 11 114278508 114278508 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 114278508 114278508 A C SNP RBM7 ENST00000540163 human ensembl 70_37 +1 known missense c.780 p.K260N 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM7 HGNC RBMS3 27303 genome.wustl.edu 37 3 29781258 29781258 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 29781258 29781258 T G SNP RBMS3 ENST00000383767 human ensembl 70_37 +1 known missense c.447 p.I149M 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS3 HGNC RBMS3 27303 genome.wustl.edu 37 3 29781260 29781260 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 29781260 29781260 C A SNP RBMS3 ENST00000383767 human ensembl 70_37 +1 known missense c.449 p.S150Y 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS3 HGNC RC3H2 54542 genome.wustl.edu 37 9 125621235 125621235 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 125621235 125621235 G A SNP RC3H2 ENST00000357244 human ensembl 70_37 -1 known nonsense c.1996 p.R666* 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC RCAN2 10231 genome.wustl.edu 37 6 46214590 46214590 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 46214590 46214590 G T SNP RCAN2 ENST00000306764 human ensembl 70_37 -1 known missense c.466 p.L156I 1.000 pfam_Calcipressin pfam_Calcipressin - no_errors RCAN2 HGNC RCSD1 92241 genome.wustl.edu 37 1 167666419 167666419 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 167666419 167666419 T C SNP RCSD1 ENST00000367854 human ensembl 70_37 +1 known silent c.558 p.D186 0.000 NULL pfam_RCSD - no_errors RCSD1 HGNC RDX 5962 genome.wustl.edu 37 11 110124692 110124692 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 110124692 110124692 T G SNP RDX ENST00000530749 human ensembl 70_37 -1 known missense c.938 p.K313T 1.000 pirsf_ERM pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain - no_errors RDX HGNC RECQL 5965 genome.wustl.edu 37 12 21643286 21643286 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 21643286 21643286 C A SNP RECQL ENST00000421138 human ensembl 70_37 -1 known missense c.241 p.D81Y 0.676 tigrfam_DNA_helicase_ATP-dep_RecQ pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_RQC_domain,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL HGNC REEP6 92840 genome.wustl.edu 37 19 1496287 1496287 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 1496287 1496287 G A SNP REEP6 ENST00000233596 human ensembl 70_37 +1 known missense c.352 p.A118T 0.969 pfam_TB2_DP1_HVA22 pfam_TB2_DP1_HVA22 - no_errors REEP6 HGNC RELB 5971 genome.wustl.edu 37 19 45506232 45506232 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 45506232 45506232 G A SNP RELB ENST00000221452 human ensembl 70_37 +1 known silent c.132 p.S44 0.086 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELB HGNC RELN 5649 genome.wustl.edu 37 7 103214561 103214561 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 103214561 103214561 G T SNP RELN ENST00000424685 human ensembl 70_37 -1 known missense c.4489 p.P1497T 1.000 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC RERE 473 genome.wustl.edu 37 1 8415034 8415034 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 8415034 8415034 G T SNP RERE ENST00000467350 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RERE HGNC RFC5 5985 genome.wustl.edu 37 12 118467597 118467597 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 118467597 118467597 G A SNP RFC5 ENST00000454402 human ensembl 70_37 +1 known missense c.893 p.R298Q 1.000 pfam_Rep_factorC_C_dom,superfamily_DNA_pol3_clamp-load_cplx_C pfam_Rep_factorC_C_dom,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_DUF815,superfamily_DNA_pol3_clamp-load_cplx_C,smart_AAA+_ATPase - no_errors RFC5 HGNC RFPL2 10739 genome.wustl.edu 37 22 32587262 32587262 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 32587262 32587262 G A SNP RFPL2 ENST00000400237 human ensembl 70_37 -1 known missense c.634 p.R212C 0.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors RFPL2 HGNC RFTN2 130132 genome.wustl.edu 37 2 198480650 198480650 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 198480650 198480650 G A SNP RFTN2 ENST00000295049 human ensembl 70_37 -1 known silent c.1104 p.F368 0.996 NULL NULL - no_errors RFTN2 HGNC RFX5 5993 genome.wustl.edu 37 1 151315475 151315475 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 151315475 151315475 G T SNP RFX5 ENST00000290524 human ensembl 70_37 -1 known silent c.1038 p.V346 0.997 NULL pfam_DNA-bd_RFX - no_errors RFX5 HGNC RFX7 64864 genome.wustl.edu 37 15 56387634 56387634 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 56387634 56387634 G T SNP RFX7 ENST00000423270 human ensembl 70_37 -1 known silent c.2292 p.V764 0.996 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC RGAG1 57529 genome.wustl.edu 37 X 109696047 109696047 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 109696047 109696047 G A SNP RGAG1 ENST00000465301 human ensembl 70_37 +1 known silent c.2202 p.S734 0.000 NULL NULL - no_errors RGAG1 HGNC RGL1 23179 genome.wustl.edu 37 1 183895267 183895268 + Frame_Shift_Ins INS - - T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 183895267 183895268 - T INS RGL1 ENST00000304685 human ensembl 70_37 +1 known frame_shift_ins c.2253_2254 p.Y752fs 1.000:1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL1 HGNC RGPD4 285190 genome.wustl.edu 37 2 108478125 108478125 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 108478125 108478125 C A SNP RGPD4 ENST00000354986 human ensembl 70_37 +1 known missense c.2134 p.L712M 0.997 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 RGS10 6001 genome.wustl.edu 37 10 121295974 121295974 + Splice_Site SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 121295974 121295974 A G SNP RGS10 ENST00000392865 human ensembl 70_37 -1 known splice_site c.7+2 e1+2 1.000 - - - no_errors RGS10 HGNC RGS12 6002 genome.wustl.edu 37 4 3430419 3430419 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 3430419 3430419 T G SNP RGS12 ENST00000344733 human ensembl 70_37 +1 known missense c.3546 p.I1182M 1.000 NULL pfam_Raf-like_ras-bd,pfam_Regulat_G_prot_signal,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTyr_interaction_dom,smart_Regulat_G_prot_signal,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTyr_interaction_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS12 HGNC RGS17 26575 genome.wustl.edu 37 6 153332806 153332806 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 153332806 153332806 T C SNP RGS17 ENST00000206262 human ensembl 70_37 -1 known missense c.536 p.Y179C 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS17 HGNC RGS2 5997 genome.wustl.edu 37 1 192778294 192778294 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 192778294 192778294 A C SNP RGS2 ENST00000235382 human ensembl 70_37 +1 known missense c.93 p.E31D 0.946 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS2 HGNC RGS22 26166 genome.wustl.edu 37 8 101076270 101076270 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 101076270 101076270 C A SNP RGS22 ENST00000360863 human ensembl 70_37 -1 known missense c.726 p.E242D 0.977 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal - no_errors RGS22 HGNC RGS4 5999 genome.wustl.edu 37 1 163044242 163044242 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 163044242 163044242 G T SNP RGS4 ENST00000421743 human ensembl 70_37 +1 known missense c.801 p.K267N 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS4 HGNC RGS4 5999 genome.wustl.edu 37 1 163045609 163045609 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 163045609 163045609 A C SNP RGS4 ENST00000491263 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RGS4 HGNC RGS5 8490 genome.wustl.edu 37 1 163187355 163187355 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 163187355 163187355 A G SNP RGS5 ENST00000367903 human ensembl 70_37 -1 putative silent c.30 p.I10 0.001 NULL pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS5 HGNC RGS6 9628 genome.wustl.edu 37 14 72818871 72818871 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 72818871 72818871 C T SNP RGS6 ENST00000553525 human ensembl 70_37 +1 known silent c.153 p.S51 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_Regulat_G_prot_signal,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS6 HGNC RHD 6007 genome.wustl.edu 37 1 25599101 25599101 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 25599101 25599101 A C SNP RHD ENST00000328664 human ensembl 70_37 +1 known missense c.63 p.E21D 0.002 pfam_NH4_transpt_AmtB-like,prints_RhesusRHD pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHD HGNC RHD 6007 genome.wustl.edu 37 1 25634165 25634165 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 25634165 25634165 A C SNP RHD ENST00000342055 human ensembl 70_37 +1 putative missense c.1101 p.K367N 0.006 NULL pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHD HGNC RHOBTB2 23221 genome.wustl.edu 37 8 22865591 22865591 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 22865591 22865591 T C SNP RHOBTB2 ENST00000251822 human ensembl 70_37 +1 known silent c.1587 p.F529 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC RHPN2 85415 genome.wustl.edu 37 19 33470790 33470790 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 33470790 33470790 G T SNP RHPN2 ENST00000588683 human ensembl 70_37 -1 putative rna NULL NULL 0.045 - - - no_errors RHPN2 HGNC RICTOR 253260 genome.wustl.edu 37 5 38963010 38963010 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 38963010 38963010 G T SNP RICTOR ENST00000296782 human ensembl 70_37 -1 known missense c.1534 p.L512I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC RIF1 55183 genome.wustl.edu 37 2 152301883 152301883 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 152301883 152301883 A C SNP RIF1 ENST00000243326 human ensembl 70_37 +1 known missense c.2018 p.E673A 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC RIMS1 22999 genome.wustl.edu 37 6 72975721 72975721 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 72975721 72975721 G A SNP RIMS1 ENST00000521978 human ensembl 70_37 +1 known missense c.3367 p.D1123N 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 RIMS1 22999 genome.wustl.edu 37 6 73110490 73110490 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 73110490 73110490 C T SNP RIMS1 ENST00000431478 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RIMS1 HGNC RIMS2 9699 genome.wustl.edu 37 8 104780598 104780598 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 104780598 104780598 G A SNP RIMS2 ENST00000395361 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RIMS2 HGNC RIN2 54453 genome.wustl.edu 37 20 19982068 19982068 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 19982068 19982068 A C SNP RIN2 ENST00000484638 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RIN2 HGNC RIN3 79890 genome.wustl.edu 37 14 93118693 93118693 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 93118693 93118693 C T SNP RIN3 ENST00000216487 human ensembl 70_37 +1 known silent c.1299 p.G433 0.046 NULL pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC RLF 6018 genome.wustl.edu 37 1 40704800 40704800 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 40704800 40704800 T G SNP RLF ENST00000372771 human ensembl 70_37 +1 known missense c.4426 p.L1476V 0.994 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RLF HGNC RLTPR 146206 genome.wustl.edu 37 16 67680824 67680824 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 67680824 67680824 C T SNP RLTPR ENST00000334583 human ensembl 70_37 +1 known missense c.559 p.R187C 0.046 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC RLTPR 146206 genome.wustl.edu 37 16 67688120 67688120 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 67688120 67688120 C A SNP RLTPR ENST00000334583 human ensembl 70_37 +1 known missense c.3189 p.F1063L 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors RLTPR HGNC RNA5-8SP2 100873571 genome.wustl.edu 37 16 33965549 33965549 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 33965549 33965549 C A SNP RNA5-8SP2 ENST00000363564 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP2 HGNC RNASET2 8635 genome.wustl.edu 37 6 167357213 167357213 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 167357213 167357213 A C SNP RNASET2 ENST00000421787 human ensembl 70_37 -1 known missense c.346 p.L116V 0.000 NULL pfam_RNase_T2-like,superfamily_RNase_T2-like - no_errors RNASET2 HGNC RNF103 7844 genome.wustl.edu 37 2 86831408 86831408 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 86831408 86831408 G A SNP RNF103 ENST00000237455 human ensembl 70_37 -1 known missense c.1616 p.S539L 0.999 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC RNF126P1 376412 genome.wustl.edu 37 17 55122996 55122996 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 55122996 55122996 T G SNP RNF126P1 ENST00000567452 human ensembl 70_37 +1 known rna NULL NULL 0.981 - - - no_errors RNF126P1 HGNC RNF133 168433 genome.wustl.edu 37 7 122338779 122338779 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 122338779 122338779 C T SNP RNF133 ENST00000340112 human ensembl 70_37 -1 known missense c.194 p.S65N 0.999 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF133 HGNC RNF141 50862 genome.wustl.edu 37 11 10555624 10555624 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 10555624 10555624 G A SNP RNF141 ENST00000265981 human ensembl 70_37 -1 known nonsense c.82 p.R28* 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF141 HGNC RNF157 114804 genome.wustl.edu 37 17 74163187 74163187 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 74163187 74163187 C A SNP RNF157 ENST00000269391 human ensembl 70_37 -1 known missense c.464 p.S155I 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF157 HGNC RNF216 54476 genome.wustl.edu 37 7 5780712 5780712 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 5780712 5780712 A G SNP RNF216 ENST00000389902 human ensembl 70_37 -1 known silent c.936 p.G312 0.537 NULL smart_Znf_C6HC - no_errors RNF216 HGNC RNF219 79596 genome.wustl.edu 37 13 79190810 79190810 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 79190810 79190810 A C SNP RNF219 ENST00000282003 human ensembl 70_37 -1 known silent c.1086 p.T362 0.973 NULL pfscan_Znf_RING - no_errors RNF219 HGNC RNF26 79102 genome.wustl.edu 37 11 119207121 119207121 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 119207121 119207121 A C SNP RNF26 ENST00000311413 human ensembl 70_37 +1 known missense c.1289 p.N430T 1.000 NULL pfscan_Znf_RING - no_errors RNF26 HGNC RNF6 6049 genome.wustl.edu 37 13 26789310 26789310 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 26789310 26789310 T G SNP RNF6 ENST00000346166 human ensembl 70_37 -1 known missense c.709 p.N237H 0.999 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC RNGTT 8732 genome.wustl.edu 37 6 89616098 89616098 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 89616098 89616098 C A SNP RNGTT ENST00000369485 human ensembl 70_37 -1 known missense c.429 p.E143D 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase pfam_mRNA_cap_enzyme,pfam_mRNA_cap_enzyme_C,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_NA-bd_OB-fold-like,pirsf_mRNA_cap_enz_bifunc,pfscan_Tyr/Dual-specificity_Pase - no_errors RNGTT HGNC RORA 6095 genome.wustl.edu 37 15 60803653 60803653 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 60803653 60803653 C T SNP RORA ENST00000261523 human ensembl 70_37 -1 known missense c.691 p.D231N 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors RORA HGNC RORC 6097 genome.wustl.edu 37 1 151783995 151783995 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 151783995 151783995 C T SNP RORC ENST00000480719 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RORC HGNC RPGR 6103 genome.wustl.edu 37 X 38156574 38156574 + Silent SNP G G C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 38156574 38156574 G C SNP RPGR ENST00000378505 human ensembl 70_37 -1 known silent c.1377 p.V459 0.000 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC RPH3A 22895 genome.wustl.edu 37 12 113325694 113325694 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 113325694 113325694 A C SNP RPH3A ENST00000389385 human ensembl 70_37 +1 known missense c.1529 p.K510T 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC RPL11 6135 genome.wustl.edu 37 1 24022863 24022863 + Nonstop_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 24022863 24022863 A C SNP RPL11 ENST00000374550 human ensembl 70_37 +1 known nonstop c.537 p.*179Y 1.000 NULL pfam_Ribosomal_L5,superfamily_Ribosomal_L5_domain,pirsf_Ribosomal_L5 - no_errors RPL11 HGNC RPPH1 85495 genome.wustl.edu 37 14 20811630 20811630 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 20811630 20811630 T G SNP RPPH1 ENST00000554988 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RPPH1 Clone_based_vega_gene RPS4X 6191 genome.wustl.edu 37 X 71494328 71494328 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 71494328 71494328 A C SNP RPS4X ENST00000486733 human ensembl 70_37 -1 known rna NULL NULL 0.919 - - - no_errors RPS4X HGNC RPS6 6194 genome.wustl.edu 37 9 19378854 19378854 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 19378854 19378854 G T SNP RPS6 ENST00000380394 human ensembl 70_37 -1 known silent c.201 p.V67 1.000 pfam_Ribosomal_S6e,pirsf_Ribosomal_S6_euk pfam_Ribosomal_S6e,pirsf_Ribosomal_S6_euk - no_errors RPS6 HGNC RPS6KA4 8986 genome.wustl.edu 37 11 64127764 64127764 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 64127764 64127764 G A SNP RPS6KA4 ENST00000334205 human ensembl 70_37 +1 known missense c.257 p.R86H 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA4 HGNC RPS6KA5 9252 genome.wustl.edu 37 14 91340105 91340105 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 91340105 91340105 T G SNP RPS6KA5 ENST00000261991 human ensembl 70_37 -1 known missense c.2031 p.K677N 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom - no_errors RPS6KA5 HGNC RPS6KC1 26750 genome.wustl.edu 37 1 213251114 213251114 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 213251114 213251114 G A SNP RPS6KC1 ENST00000366960 human ensembl 70_37 +1 known missense c.218 p.R73Q 0.998 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_cat_dom - no_errors RPS6KC1 HGNC RPS6KL1 83694 genome.wustl.edu 37 14 75377988 75377988 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 75377988 75377988 G A SNP RPS6KL1 ENST00000358328 human ensembl 70_37 -1 known silent c.627 p.S209 0.718 pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors RPS6KL1 HGNC RRN3P1 730092 genome.wustl.edu 37 16 21823710 21823710 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 21823710 21823710 T G SNP RRN3P1 ENST00000551681 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors RRN3P1 HGNC RSAD2 91543 genome.wustl.edu 37 2 7036006 7036006 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 7036006 7036006 A G SNP RSAD2 ENST00000382040 human ensembl 70_37 +1 known missense c.1019 p.E340G 1.000 NULL pfam_rSAM,smart_Elp3/MiaB/NifB - no_errors RSAD2 HGNC RTF1 23168 genome.wustl.edu 37 15 41772871 41772871 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 41772871 41772871 C T SNP RTF1 ENST00000389629 human ensembl 70_37 +1 known nonsense c.2119 p.R707* 1.000 NULL pfam_Plus-3,smart_Plus3-dom_subgr - no_errors RTF1 HGNC RTN1 6252 genome.wustl.edu 37 14 60074026 60074026 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 60074026 60074026 T G SNP RTN1 ENST00000267484 human ensembl 70_37 -1 known missense c.1950 p.K650N 0.999 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC RTN3 10313 genome.wustl.edu 37 11 63488091 63488091 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 63488091 63488091 T G SNP RTN3 ENST00000377819 human ensembl 70_37 +1 known missense c.2117 p.I706S 0.000 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN3 HGNC RTN4IP1 84816 genome.wustl.edu 37 6 107076841 107076841 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 107076841 107076841 A G SNP RTN4IP1 ENST00000369063 human ensembl 70_37 -1 known missense c.56 p.F19S 0.278 NULL pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors RTN4IP1 HGNC RUFY3 22902 genome.wustl.edu 37 4 71656969 71656969 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 71656969 71656969 G T SNP RUFY3 ENST00000226328 human ensembl 70_37 +1 known missense c.1365 p.K455N 1.000 superfamily_Prefoldin pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run - no_errors RUFY3 HGNC RUFY4 285180 genome.wustl.edu 37 2 218938012 218938012 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 218938012 218938012 G T SNP RUFY4 ENST00000374155 human ensembl 70_37 +1 known nonsense c.433 p.E145* 0.001 pfam_Run,smart_Run,pfscan_Run pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,pfscan_Run - no_errors RUFY4 HGNC RUNX2 860 genome.wustl.edu 37 6 45480058 45480058 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 45480058 45480058 C T SNP RUNX2 ENST00000352853 human ensembl 70_37 +1 known missense c.1139 p.S380F 1.000 NULL pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pfscan_AML1/Runt_N,prints_AML1_Runt - no_errors RUNX2 HGNC RYR2 6262 genome.wustl.edu 37 1 237870322 237870322 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 237870322 237870322 C T SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known silent c.9648 p.I3216 0.124 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,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 237905645 237905645 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 237905645 237905645 T C SNP RYR2 ENST00000360064 human ensembl 70_37 +1 known missense c.11135 p.F3712S 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,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 33944986 33944986 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 33944986 33944986 C T SNP RYR3 ENST00000389232 human ensembl 70_37 +1 known missense c.4210 p.R1404W 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY 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 SAA3P 6290 genome.wustl.edu 37 11 18134228 18134228 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 18134228 18134228 T G SNP SAA3P ENST00000534768 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors SAA3P HGNC SAGE1 55511 genome.wustl.edu 37 X 134991912 134991912 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 134991912 134991912 T C SNP SAGE1 ENST00000324447 human ensembl 70_37 +1 known missense c.1697 p.I566T 0.000 NULL NULL - no_errors SAGE1 HGNC SAGE1 55511 genome.wustl.edu 37 X 134994537 134994537 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 134994537 134994537 G T SNP SAGE1 ENST00000324447 human ensembl 70_37 +1 known missense c.2579 p.R860I 0.711 NULL NULL - no_errors SAGE1 HGNC SAMD12 401474 genome.wustl.edu 37 8 119391662 119391662 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 119391662 119391662 C A SNP SAMD12 ENST00000314727 human ensembl 70_37 -1 known missense c.600 p.Q200H 0.006 NULL pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD12 HGNC SAMD15 161394 genome.wustl.edu 37 14 77844148 77844148 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 77844148 77844148 G A SNP SAMD15 ENST00000216471 human ensembl 70_37 +1 known silent c.387 p.T129 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD15 HGNC SAMD9 54809 genome.wustl.edu 37 7 92733737 92733737 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 92733737 92733737 C A SNP SAMD9 ENST00000379958 human ensembl 70_37 -1 known missense c.1674 p.E558D 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC SAMD9 54809 genome.wustl.edu 37 7 92735170 92735170 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 92735170 92735170 C A SNP SAMD9 ENST00000379958 human ensembl 70_37 -1 known missense c.241 p.D81Y 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC SAMD9 54809 genome.wustl.edu 37 7 92735353 92735353 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 92735353 92735353 T G SNP SAMD9 ENST00000379958 human ensembl 70_37 -1 known missense c.58 p.N20H 0.535 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC SAMD9L 219285 genome.wustl.edu 37 7 92764218 92764218 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 92764218 92764218 G A SNP SAMD9L ENST00000318238 human ensembl 70_37 -1 known missense c.1067 p.S356F 0.000 NULL superfamily_SAM/pointed,pfscan_SAM - no_errors SAMD9L HGNC SARDH 1757 genome.wustl.edu 37 9 136555521 136555521 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 136555521 136555521 T G SNP SARDH ENST00000371872 human ensembl 70_37 -1 known missense c.2050 p.S684R 1.000 pfam_GCV_T_N pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC SASH1 23328 genome.wustl.edu 37 6 148840845 148840845 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 148840845 148840845 A G SNP SASH1 ENST00000367467 human ensembl 70_37 +1 known missense c.1025 p.D342G 0.995 NULL pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SASH1 HGNC SBNO1 55206 genome.wustl.edu 37 12 123829879 123829879 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 123829879 123829879 T G SNP SBNO1 ENST00000420886 human ensembl 70_37 -1 known missense c.476 p.K159T 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_Prismane-like - no_errors SBNO1 HGNC SCAF4 57466 genome.wustl.edu 37 21 33064673 33064673 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 33064673 33064673 C A SNP SCAF4 ENST00000286835 human ensembl 70_37 -1 known nonsense c.1603 p.E535* 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF4 HGNC SCAI 286205 genome.wustl.edu 37 9 127734084 127734084 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 127734084 127734084 T C SNP SCAI ENST00000373549 human ensembl 70_37 -1 known missense c.1508 p.N503S 1.000 pfam_DUF3550,pirsf_UCP013022 pfam_DUF3550,pirsf_UCP013022 - no_errors SCAI HGNC SCARB2 950 genome.wustl.edu 37 4 77095431 77095431 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 77095431 77095431 A G SNP SCARB2 ENST00000264896 human ensembl 70_37 -1 known missense c.860 p.V287A 0.902 pfam_CD36 pfam_CD36,superfamily_NA-bd_OB-fold-like,prints_LimpII,prints_CD36,prints_CD36_antigen - no_errors SCARB2 HGNC SCFD2 152579 genome.wustl.edu 37 4 54231279 54231279 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 54231279 54231279 T C SNP SCFD2 ENST00000401642 human ensembl 70_37 -1 known missense c.830 p.D277G 1.000 NULL pfam_Sec1-like,superfamily_Sec1-like - no_errors SCFD2 HGNC SCG2 7857 genome.wustl.edu 37 2 224462577 224462577 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 224462577 224462577 G A SNP SCG2 ENST00000305409 human ensembl 70_37 -1 known missense c.1424 p.S475L 0.010 pfam_Granin pfam_Granin - no_errors SCG2 HGNC SCMH1 22955 genome.wustl.edu 37 1 41503061 41503061 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 41503061 41503061 A C SNP SCMH1 ENST00000326197 human ensembl 70_37 -1 known missense c.1621 p.S541A 0.939 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors SCMH1 HGNC SCML4 256380 genome.wustl.edu 37 6 108070974 108070974 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 108070974 108070974 G A SNP SCML4 ENST00000369021 human ensembl 70_37 -1 known missense c.113 p.P38L 0.998 NULL pfam_DUF3588 - no_errors SCML4 HGNC SCN11A 11280 genome.wustl.edu 37 3 38888327 38888327 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 38888327 38888327 C T SNP SCN11A ENST00000302328 human ensembl 70_37 -1 known missense c.5234 p.R1745Q 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC SCN11A 11280 genome.wustl.edu 37 3 38936403 38936403 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 38936403 38936403 C A SNP SCN11A ENST00000302328 human ensembl 70_37 -1 known missense c.2456 p.R819I 0.364 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC SCN1B 6324 genome.wustl.edu 37 19 35523455 35523455 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 35523455 35523455 G A SNP SCN1B ENST00000262631 human ensembl 70_37 +1 known missense c.64 p.V22M 0.999 NULL pfam_Immunoglobulin,pfam_Ig_V-set - no_errors SCN1B HGNC SCN2A 6326 genome.wustl.edu 37 2 166179831 166179831 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 166179831 166179831 G A SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known missense c.1837 p.V613M 1.000 pfam_DUF3451 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC SCN2A 6326 genome.wustl.edu 37 2 166198953 166198953 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 166198953 166198953 T G SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known missense c.2536 p.L846V 0.452 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC SCN2A 6326 genome.wustl.edu 37 2 166237192 166237192 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 166237192 166237192 C A SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known missense c.4399 p.L1467I 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC SCN2A 6326 genome.wustl.edu 37 2 166246238 166246238 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 166246238 166246238 G T SNP SCN2A ENST00000283256 human ensembl 70_37 +1 known silent c.5922 p.S1974 0.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC SCN4A 6329 genome.wustl.edu 37 17 62029154 62029154 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 62029154 62029154 C T SNP SCN4A ENST00000435607 human ensembl 70_37 -1 known missense c.2483 p.R828H 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC SCN8A 6334 genome.wustl.edu 37 12 52200522 52200522 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 52200522 52200522 T G SNP SCN8A ENST00000354534 human ensembl 70_37 +1 known missense c.5252 p.I1751S 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC SCRIB 23513 genome.wustl.edu 37 8 144896062 144896062 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 144896062 144896062 G A SNP SCRIB ENST00000320476 human ensembl 70_37 -1 known silent c.282 p.I94 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC SCTR 6344 genome.wustl.edu 37 2 120209612 120209612 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 120209612 120209612 G A SNP SCTR ENST00000019103 human ensembl 70_37 -1 known missense c.895 p.R299C 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_secretin_rcpt,prints_GPCR_2_VIP_rcpt_1 - no_errors SCTR HGNC SCUBE1 80274 genome.wustl.edu 37 22 43604187 43604187 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 43604187 43604187 G A SNP SCUBE1 ENST00000360835 human ensembl 70_37 -1 known silent c.2625 p.Y875 0.989 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_EGF-like_Ca-bd,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE1 HGNC SCUBE2 57758 genome.wustl.edu 37 11 9080863 9080863 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 9080863 9080863 C A SNP SCUBE2 ENST00000457346 human ensembl 70_37 -1 known missense c.1077 p.E359D 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE2 HGNC SDCCAG3 10807 genome.wustl.edu 37 9 139299684 139299684 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 139299684 139299684 T G SNP SDCCAG3 ENST00000461693 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SDCCAG3 HGNC SDR16C5 195814 genome.wustl.edu 37 8 57218217 57218217 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 57218217 57218217 G T SNP SDR16C5 ENST00000303749 human ensembl 70_37 -1 known missense c.775 p.L259I 0.992 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR16C5 HGNC SEC24B 10427 genome.wustl.edu 37 4 110415812 110415812 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 110415812 110415812 G A SNP SEC24B ENST00000265175 human ensembl 70_37 +1 known missense c.1288 p.A430T 0.002 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24B HGNC SEC31A 22872 genome.wustl.edu 37 4 83787987 83787987 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 83787987 83787987 G A SNP SEC31A ENST00000432794 human ensembl 70_37 -1 known nonsense c.1171 p.R391* 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC SEC63 11231 genome.wustl.edu 37 6 108202401 108202401 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 108202401 108202401 T G SNP SEC63 ENST00000369002 human ensembl 70_37 -1 known missense c.1887 p.E629D 1.000 pfam_Sec63-dom,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 SELV 348303 genome.wustl.edu 37 19 40006584 40006584 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 40006584 40006584 G T SNP SELV ENST00000423711 human ensembl 70_37 +1 known missense c.732 p.Q244H 0.000 NULL pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ - no_errors SELV Uniprot_genename SEMA3D 223117 genome.wustl.edu 37 7 84680064 84680064 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 84680064 84680064 C A SNP SEMA3D ENST00000444867 human ensembl 70_37 -1 putative missense c.864 p.E288D 0.001 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag - no_errors SEMA3D HGNC SEMA3G 56920 genome.wustl.edu 37 3 52475372 52475372 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 52475372 52475372 C A SNP SEMA3G ENST00000231721 human ensembl 70_37 -1 known missense c.721 p.D241Y 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,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3G HGNC SEMA6D 80031 genome.wustl.edu 37 15 48058792 48058792 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 48058792 48058792 C A SNP SEMA6D ENST00000389432 human ensembl 70_37 +1 known missense c.1665 p.F555L 1.000 superfamily_Plexin-like_fold,smart_Plexin-like pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6D HGNC SEPT14 346288 genome.wustl.edu 37 7 55863714 55863714 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 55863714 55863714 T G SNP SEPT14 ENST00000388975 human ensembl 70_37 -1 known missense c.1191 p.K397N 0.067 pirsf_Septin pfam_Cell_div_GTP-bd,pirsf_Septin - no_errors SEPT14 HGNC SEPT14 346288 genome.wustl.edu 37 7 55902133 55902133 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 55902133 55902133 C T SNP SEPT14 ENST00000388975 human ensembl 70_37 -1 known silent c.705 p.A235 0.312 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pirsf_Septin - no_errors SEPT14 HGNC SERPINA7 6906 genome.wustl.edu 37 X 105280684 105280684 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 105280684 105280684 T C SNP SERPINA7 ENST00000327674 human ensembl 70_37 -1 known silent c.366 p.P122 0.066 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2 - no_errors SERPINA7 HGNC SERPINA7 6906 genome.wustl.edu 37 X 105280795 105280795 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 105280795 105280795 G A SNP SERPINA7 ENST00000327674 human ensembl 70_37 -1 known silent c.255 p.C85 0.001 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Prot_inh_Lserp2 - no_errors SERPINA7 HGNC SERPINB13 5275 genome.wustl.edu 37 18 61261713 61261713 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 61261713 61261713 G T SNP SERPINB13 ENST00000344731 human ensembl 70_37 +1 known missense c.597 p.E199D 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB13 HGNC SERPINE3 647174 genome.wustl.edu 37 13 51936064 51936064 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 51936064 51936064 T G SNP SERPINE3 ENST00000521255 human ensembl 70_37 +1 known missense c.1206 p.I402M 0.000 smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE3 HGNC SET 6418 genome.wustl.edu 37 9 131456028 131456028 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 131456028 131456028 G T SNP SET ENST00000372692 human ensembl 70_37 +1 known missense c.643 p.D215Y 1.000 pfam_NAP_family pfam_NAP_family - no_errors SET HGNC SEZ6L 23544 genome.wustl.edu 37 22 26688897 26688897 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 26688897 26688897 C T SNP SEZ6L ENST00000248933 human ensembl 70_37 +1 known missense c.620 p.S207L 0.136 NULL pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC SF1 7536 genome.wustl.edu 37 11 64536694 64536694 + Splice_Site SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 64536694 64536694 C A SNP SF1 ENST00000377390 human ensembl 70_37 -1 known splice_site c.779+1 e7+1 1.000 - - - no_errors SF1 HGNC SFR1 119392 genome.wustl.edu 37 10 105882805 105882805 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 105882805 105882805 G A SNP SFR1 ENST00000336358 human ensembl 70_37 +1 known silent c.282 p.A94 0.000 pfam_Ds-recomb_repair_prot_Mei5 pfam_Ds-recomb_repair_prot_Mei5 - no_errors SFR1 HGNC SFXN2 118980 genome.wustl.edu 37 10 104491964 104491964 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 104491964 104491964 C T SNP SFXN2 ENST00000369893 human ensembl 70_37 +1 known missense c.710 p.A237V 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN2 HGNC SGCZ 137868 genome.wustl.edu 37 8 15095119 15095119 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 15095119 15095119 G A SNP SGCZ ENST00000382080 human ensembl 70_37 -1 known missense c.14 p.T5M 0.033 NULL pfam_Sarcoglycan - no_errors SGCZ HGNC SGOL1 151648 genome.wustl.edu 37 3 20202665 20202665 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 20202665 20202665 G A SNP SGOL1 ENST00000263753 human ensembl 70_37 -1 known nonsense c.1618 p.R540* 0.000 NULL pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC SH3D21 79729 genome.wustl.edu 37 1 36786140 36786142 + In_Frame_Del DEL GAG GAG - TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 36786140 36786142 GAG - DEL SH3D21 ENST00000453908 human ensembl 70_37 +1 known in_frame_del c.1876_1878 p.E627in_frame_del 0.000:0.004:0.017 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors SH3D21 HGNC SHE 126669 genome.wustl.edu 37 1 154459064 154459064 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 154459064 154459064 C T SNP SHE ENST00000304760 human ensembl 70_37 -1 known missense c.1120 p.A374T 0.142 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHE HGNC SHISA4 149345 genome.wustl.edu 37 1 201860929 201860929 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 201860929 201860929 T C SNP SHISA4 ENST00000362011 human ensembl 70_37 +1 known silent c.549 p.A183 0.999 NULL NULL - no_errors SHISA4 HGNC SHROOM1 134549 genome.wustl.edu 37 5 132159474 132159474 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 132159474 132159474 G A SNP SHROOM1 ENST00000488072 human ensembl 70_37 -1 putative rna NULL NULL 0.028 - - - no_errors SHROOM1 HGNC SHROOM3 57619 genome.wustl.edu 37 4 77660882 77660882 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 77660882 77660882 A C SNP SHROOM3 ENST00000296043 human ensembl 70_37 +1 known missense c.1556 p.N519T 1.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC SHROOM4 57477 genome.wustl.edu 37 X 50345650 50345650 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 50345650 50345650 C A SNP SHROOM4 ENST00000289292 human ensembl 70_37 -1 known nonsense c.3925 p.E1309* 0.998 pfam_ASD2 pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC SHROOM4 57477 genome.wustl.edu 37 X 50350419 50350419 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 50350419 50350419 A C SNP SHROOM4 ENST00000289292 human ensembl 70_37 -1 known silent c.3723 p.L1241 0.985 pfam_ASD2 pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC SI 6476 genome.wustl.edu 37 3 164714322 164714322 + Splice_Site SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 164714322 164714322 C A SNP SI ENST00000264382 human ensembl 70_37 -1 known splice_site c.4692+1 e39+1 0.991 - - - no_errors SI HGNC SI 6476 genome.wustl.edu 37 3 164732962 164732962 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 164732962 164732962 C A SNP SI ENST00000264382 human ensembl 70_37 -1 known missense c.3948 p.Q1316H 0.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors SI HGNC SIDT1 54847 genome.wustl.edu 37 3 113345005 113345005 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 113345005 113345005 C T SNP SIDT1 ENST00000393830 human ensembl 70_37 +1 known silent c.2379 p.F793 0.999 NULL NULL - no_errors SIDT1 HGNC SIDT2 51092 genome.wustl.edu 37 11 117053326 117053326 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 117053326 117053326 A C SNP SIDT2 ENST00000278951 human ensembl 70_37 +1 known missense c.608 p.Q203P 1.000 NULL NULL - no_errors SIDT2 HGNC SIGLEC11 114132 genome.wustl.edu 37 19 50453275 50453275 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 50453275 50453275 G A SNP SIGLEC11 ENST00000447370 human ensembl 70_37 -1 known silent c.2049 p.G683 0.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC11 HGNC SIGLEC8 27181 genome.wustl.edu 37 19 51958774 51958774 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 51958774 51958774 G A SNP SIGLEC8 ENST00000321424 human ensembl 70_37 -1 known nonsense c.949 p.R317* 0.000 pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC8 HGNC SIM2 6493 genome.wustl.edu 37 21 38115793 38115793 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 38115793 38115793 A C SNP SIM2 ENST00000290399 human ensembl 70_37 +1 known missense c.1104 p.K368N 0.023 pfam_SIM_C pfam_SIM_C,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 - no_errors SIM2 HGNC SIN3B 23309 genome.wustl.edu 37 19 16977349 16977349 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 16977349 16977349 C T SNP SIN3B ENST00000379803 human ensembl 70_37 +1 known silent c.1884 p.I628 0.781 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC SIPA1L1 26037 genome.wustl.edu 37 14 72054863 72054863 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 72054863 72054863 G T SNP SIPA1L1 ENST00000555818 human ensembl 70_37 +1 known nonsense c.274 p.E92* 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC SIPA1L2 57568 genome.wustl.edu 37 1 232650491 232650491 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 232650491 232650491 C T SNP SIPA1L2 ENST00000262861 human ensembl 70_37 -1 known missense c.595 p.D199N 0.999 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC SIPA1L3 23094 genome.wustl.edu 37 19 38610312 38610312 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 38610312 38610312 C T SNP SIPA1L3 ENST00000222345 human ensembl 70_37 +1 known silent c.2658 p.I886 0.660 NULL pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L3 HGNC SIRT5 23408 genome.wustl.edu 37 6 13601168 13601168 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 13601168 13601168 A G SNP SIRT5 ENST00000379250 human ensembl 70_37 +1 known missense c.844 p.T282A 0.998 pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT5 HGNC SKIV2L 6499 genome.wustl.edu 37 6 31933633 31933633 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 31933633 31933633 G A SNP SKIV2L ENST00000375394 human ensembl 70_37 +1 known missense c.2045 p.R682H 1.000 pfam_Helicase_C,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_C pfam_DSH_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pirsf_RNA_helicase_ATP-dep_SK12/DOB1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SKIV2L HGNC SKP2 6502 genome.wustl.edu 37 5 36183987 36183987 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 36183987 36183987 C T SNP SKP2 ENST00000274254 human ensembl 70_37 +1 known silent c.1107 p.I369 0.018 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors SKP2 HGNC SLC10A5 347051 genome.wustl.edu 37 8 82606649 82606650 + Frame_Shift_Ins INS - - A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 82606649 82606650 - A INS SLC10A5 ENST00000518568 human ensembl 70_37 -1 known frame_shift_ins c.559_558 p.L186fs 1.000:1.000 pfam_BilAc/Na_symport pfam_BilAc/Na_symport - no_errors SLC10A5 HGNC SLC12A4 6560 genome.wustl.edu 37 16 67995560 67995560 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 67995560 67995560 A G SNP SLC12A4 ENST00000422611 human ensembl 70_37 -1 known missense c.266 p.V89A 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,prints_K/Cl_cotranspt1,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A4 HGNC SLC17A2 10246 genome.wustl.edu 37 6 25917219 25917219 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 25917219 25917219 A G SNP SLC17A2 ENST00000377850 human ensembl 70_37 -1 known missense c.746 p.I249T 0.986 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A2 HGNC SLC17A3 10786 genome.wustl.edu 37 6 25868604 25868604 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 25868604 25868604 C A SNP SLC17A3 ENST00000397060 human ensembl 70_37 -1 known missense c.12 p.K4N 0.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A3 HGNC SLC17A4 10050 genome.wustl.edu 37 6 25770363 25770363 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 25770363 25770363 C T SNP SLC17A4 ENST00000377905 human ensembl 70_37 +1 known silent c.366 p.F122 0.006 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC SLC1A1 6505 genome.wustl.edu 37 9 4576646 4576646 + Nonsense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 4576646 4576646 T G SNP SLC1A1 ENST00000262352 human ensembl 70_37 +1 known nonsense c.1076 p.L359* 0.764 pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A1 HGNC SLC22A8 9376 genome.wustl.edu 37 11 62766483 62766483 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 62766483 62766483 A C SNP SLC22A8 ENST00000336232 human ensembl 70_37 -1 known missense c.671 p.I224S 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A8 HGNC SLC24A5 283652 genome.wustl.edu 37 15 48434526 48434526 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 48434526 48434526 A C SNP SLC24A5 ENST00000341459 human ensembl 70_37 +1 known missense c.1481 p.K494T 1.000 NULL pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A5 HGNC SLC25A35 399512 genome.wustl.edu 37 17 8194264 8194264 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 8194264 8194264 G A SNP SLC25A35 ENST00000577745 human ensembl 70_37 -1 known silent c.625 p.L209 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A35 HGNC SLC25A44 9673 genome.wustl.edu 37 1 156177734 156177734 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 156177734 156177734 C T SNP SLC25A44 ENST00000359511 human ensembl 70_37 +1 known missense c.683 p.S228L 0.998 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A44 HGNC SLC26A2 1836 genome.wustl.edu 37 5 149360293 149360293 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 149360293 149360293 T C SNP SLC26A2 ENST00000286298 human ensembl 70_37 +1 known silent c.1137 p.I379 0.993 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A2 HGNC SLC26A7 115111 genome.wustl.edu 37 8 92374634 92374634 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 92374634 92374634 A G SNP SLC26A7 ENST00000309536 human ensembl 70_37 +1 known silent c.1368 p.G456 0.999 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC SLC26A9 115019 genome.wustl.edu 37 1 205892288 205892288 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 205892288 205892288 C T SNP SLC26A9 ENST00000340781 human ensembl 70_37 -1 known silent c.1695 p.K565 1.000 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC SLC27A1 376497 genome.wustl.edu 37 19 17599875 17599875 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 17599875 17599875 G T SNP SLC27A1 ENST00000252595 human ensembl 70_37 +1 known missense c.945 p.K315N 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A1 HGNC SLC2A12 154091 genome.wustl.edu 37 6 134350492 134350492 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 134350492 134350492 C A SNP SLC2A12 ENST00000275230 human ensembl 70_37 -1 known missense c.471 p.E157D 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A12 HGNC SLC2A13 114134 genome.wustl.edu 37 12 40422238 40422238 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 40422238 40422238 G A SNP SLC2A13 ENST00000280871 human ensembl 70_37 -1 known nonsense c.790 p.R264* 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Plexin-like_fold,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A13 HGNC SLC30A3 7781 genome.wustl.edu 37 2 27480103 27480103 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 27480103 27480103 G A SNP SLC30A3 ENST00000233535 human ensembl 70_37 -1 known silent c.696 p.V232 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A3 HGNC SLC30A6 55676 genome.wustl.edu 37 2 32399192 32399192 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 32399192 32399192 T C SNP SLC30A6 ENST00000282587 human ensembl 70_37 +1 known missense c.151 p.W51R 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A6 HGNC SLC34A1 6569 genome.wustl.edu 37 5 176825089 176825089 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 176825089 176825089 G T SNP SLC34A1 ENST00000324417 human ensembl 70_37 +1 known missense c.1722 p.Q574H 0.931 tigrfam_Na/Pi_transpt pfam_Na/Pi_transpt,tigrfam_Na/Pi_transpt - no_errors SLC34A1 HGNC SLC35F1 222553 genome.wustl.edu 37 6 118635200 118635200 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 118635200 118635200 C A SNP SLC35F1 ENST00000360388 human ensembl 70_37 +1 known missense c.1012 p.L338I 1.000 pfam_DUF914_euk,pfam_DMT pfam_DUF914_euk,pfam_DMT - no_errors SLC35F1 HGNC SLC36A3 285641 genome.wustl.edu 37 5 150663650 150663650 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 150663650 150663650 C A SNP SLC36A3 ENST00000377713 human ensembl 70_37 -1 known missense c.1052 p.G351V 0.996 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A3 HGNC SLC37A4 2542 genome.wustl.edu 37 11 118898959 118898959 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 118898959 118898959 A C SNP SLC37A4 ENST00000330775 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors SLC37A4 HGNC SLC38A1 81539 genome.wustl.edu 37 12 46600991 46600991 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 46600991 46600991 T G SNP SLC38A1 ENST00000398637 human ensembl 70_37 -1 known missense c.510 p.K170N 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A1 HGNC SLC38A5 92745 genome.wustl.edu 37 X 48318139 48318139 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 48318139 48318139 G A SNP SLC38A5 ENST00000317669 human ensembl 70_37 -1 known missense c.1192 p.R398W 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A5 HGNC SLC39A7 7922 genome.wustl.edu 37 6 33169685 33169685 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 33169685 33169685 C T SNP SLC39A7 ENST00000374675 human ensembl 70_37 +1 known missense c.575 p.A192V 1.000 pfam_ZIP pfam_ZIP,prints_Kininogen - no_errors SLC39A7 HGNC SLC46A2 57864 genome.wustl.edu 37 9 115652152 115652152 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 115652152 115652152 A G SNP SLC46A2 ENST00000374228 human ensembl 70_37 -1 known silent c.810 p.P270 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Tet-R_TetA/multi-R_MdtG - no_errors SLC46A2 HGNC SLC46A3 283537 genome.wustl.edu 37 13 29287142 29287142 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 29287142 29287142 A C SNP SLC46A3 ENST00000266943 human ensembl 70_37 -1 known silent c.735 p.T245 0.997 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC SLC46A3 283537 genome.wustl.edu 37 13 29292084 29292084 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 29292084 29292084 T C SNP SLC46A3 ENST00000266943 human ensembl 70_37 -1 known missense c.52 p.T18A 0.000 pfam_MFS pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC SLC4A10 57282 genome.wustl.edu 37 2 162696379 162696379 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 162696379 162696379 G T SNP SLC4A10 ENST00000446997 human ensembl 70_37 +1 known nonsense c.358 p.E120* 1.000 superfamily_PTrfase/Anion_transptr,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A10 HGNC SLC4A4 8671 genome.wustl.edu 37 4 72102354 72102354 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 72102354 72102354 G T SNP SLC4A4 ENST00000425175 human ensembl 70_37 +1 known nonsense c.61 p.E21* 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 SLC5A2 6524 genome.wustl.edu 37 16 31500280 31500280 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 31500280 31500280 G A SNP SLC5A2 ENST00000330498 human ensembl 70_37 +1 known missense c.1360 p.D454N 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 SLC5A2 HGNC SLC5A8 160728 genome.wustl.edu 37 12 101551157 101551157 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 101551157 101551157 T G SNP SLC5A8 ENST00000536262 human ensembl 70_37 -1 known missense c.1733 p.K578T 0.474 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A8 HGNC SLC6A11 6538 genome.wustl.edu 37 3 10960013 10960013 + Splice_Site SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 10960013 10960013 G A SNP SLC6A11 ENST00000254488 human ensembl 70_37 +1 known splice_site c.996-1 e8-1 1.000 - - - no_errors SLC6A11 HGNC SLC6A13 6540 genome.wustl.edu 37 12 333602 333602 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 333602 333602 A C SNP SLC6A13 ENST00000343164 human ensembl 70_37 -1 known missense c.1138 p.F380V 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT2 - no_errors SLC6A13 HGNC SLC6A18 348932 genome.wustl.edu 37 5 1244730 1244730 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 1244730 1244730 G A SNP SLC6A18 ENST00000324642 human ensembl 70_37 +1 known missense c.1504 p.D502N 0.922 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A18 HGNC SLC6A8 6535 genome.wustl.edu 37 X 152959018 152959018 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 152959018 152959018 A C SNP SLC6A8 ENST00000253122 human ensembl 70_37 +1 known missense c.1118 p.H373P 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_creatine - no_errors SLC6A8 HGNC SLC7A1 6541 genome.wustl.edu 37 13 30110018 30110018 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 30110018 30110018 A G SNP SLC7A1 ENST00000380752 human ensembl 70_37 -1 known missense c.308 p.V103A 1.000 pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A1 HGNC SLC7A14 57709 genome.wustl.edu 37 3 170185087 170185087 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 170185087 170185087 C A SNP SLC7A14 ENST00000231706 human ensembl 70_37 -1 known missense c.2072 p.S691I 1.000 NULL pfam_AA-permease_dom - no_errors SLC7A14 HGNC SLC9A4 389015 genome.wustl.edu 37 2 103090436 103090436 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 103090436 103090436 T G SNP SLC9A4 ENST00000295269 human ensembl 70_37 +1 known missense c.218 p.V73G 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_NaH_exchanger,prints_Na/H_exchanger_2,tigrfam_NaH_exchanger - no_errors SLC9A4 HGNC SLC9A7 84679 genome.wustl.edu 37 X 46466593 46466593 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 46466593 46466593 C T SNP SLC9A7 ENST00000328306 human ensembl 70_37 -1 known missense c.1972 p.E658K 0.998 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A7 HGNC SLC9C2 284525 genome.wustl.edu 37 1 173506145 173506145 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 173506145 173506145 G T SNP SLC9C2 ENST00000367714 human ensembl 70_37 -1 known missense c.1591 p.L531I 0.895 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC SLC9C2 284525 genome.wustl.edu 37 1 173517585 173517585 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 173517585 173517585 A C SNP SLC9C2 ENST00000367714 human ensembl 70_37 -1 known missense c.1404 p.I468M 0.988 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC SLCO1B3 28234 genome.wustl.edu 37 12 21028281 21028281 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 21028281 21028281 G A SNP SLCO1B3 ENST00000553473 human ensembl 70_37 +1 known silent c.840 p.P280 0.016 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B3 HGNC SLCO1B7 338821 genome.wustl.edu 37 12 21168708 21168708 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 21168708 21168708 G A SNP SLCO1B7 ENST00000421593 human ensembl 70_37 +1 known missense c.79 p.E27K 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B7 HGNC SLCO4A1 28231 genome.wustl.edu 37 20 61299485 61299485 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 61299485 61299485 T C SNP SLCO4A1 ENST00000217159 human ensembl 70_37 +1 known missense c.1760 p.V587A 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4A1 HGNC SLCO5A1 81796 genome.wustl.edu 37 8 70617305 70617305 + Missense_Mutation SNP C C G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 70617305 70617305 C G SNP SLCO5A1 ENST00000260126 human ensembl 70_37 -1 known missense c.1583 p.S528T 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC SLFN11 91607 genome.wustl.edu 37 17 33680989 33680989 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 33680989 33680989 G T SNP SLFN11 ENST00000308377 human ensembl 70_37 -1 known missense c.1288 p.Q430K 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN11 HGNC SLFN11 91607 genome.wustl.edu 37 17 33690272 33690272 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 33690272 33690272 T C SNP SLFN11 ENST00000308377 human ensembl 70_37 -1 known silent c.555 p.P185 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN11 HGNC SLFN12 55106 genome.wustl.edu 37 17 33738406 33738406 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 33738406 33738406 A C SNP SLFN12 ENST00000304905 human ensembl 70_37 -1 known missense c.1688 p.F563C 0.000 NULL pfam_ATPase_AAA-4 - no_errors SLFN12 HGNC SLFN14 342618 genome.wustl.edu 37 17 33884325 33884325 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 33884325 33884325 C A SNP SLFN14 ENST00000415846 human ensembl 70_37 -1 known nonsense c.757 p.E253* 1.000 pfam_ATPase_AAA-4 pfam_ATPase_AAA-4 - no_errors SLFN14 HGNC SLFN5 162394 genome.wustl.edu 37 17 33592569 33592569 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 33592569 33592569 C A SNP SLFN5 ENST00000299977 human ensembl 70_37 +1 known missense c.2338 p.L780I 0.018 NULL pfam_ATPase_AAA-4,pfam_DUF2075 - no_errors SLFN5 HGNC SLIT3 6586 genome.wustl.edu 37 5 168114012 168114012 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 168114012 168114012 A C SNP SLIT3 ENST00000519560 human ensembl 70_37 -1 known missense c.3286 p.Y1096D 1.000 pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom 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 SLIT3 6586 genome.wustl.edu 37 5 168180967 168180967 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 168180967 168180967 G A SNP SLIT3 ENST00000519560 human ensembl 70_37 -1 known silent c.1731 p.F577 0.813 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_typical-subtyp 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 SLITRK1 114798 genome.wustl.edu 37 13 84455409 84455409 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 84455409 84455409 G A SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known silent c.234 p.F78 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK1 HGNC SLITRK4 139065 genome.wustl.edu 37 X 142718310 142718310 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 142718310 142718310 G A SNP SLITRK4 ENST00000338017 human ensembl 70_37 -1 known silent c.615 p.V205 0.013 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC SLITRK4 139065 genome.wustl.edu 37 X 142718888 142718888 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 142718888 142718888 T C SNP SLITRK4 ENST00000338017 human ensembl 70_37 -1 known missense c.37 p.I13V 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC SLK 9748 genome.wustl.edu 37 10 105762554 105762554 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 105762554 105762554 G T SNP SLK ENST00000369755 human ensembl 70_37 +1 known missense c.1618 p.D540Y 0.005 superfamily_Kinase-like_dom pfam_PKK,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_UVR_dom,pfscan_Prot_kinase_cat_dom - no_errors SLK HGNC SLK 9748 genome.wustl.edu 37 10 105768104 105768104 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 105768104 105768104 G A SNP SLK ENST00000369755 human ensembl 70_37 +1 known missense c.2774 p.R925Q 1.000 pfam_PKK,superfamily_Kinase-like_dom pfam_PKK,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_UVR_dom,pfscan_Prot_kinase_cat_dom - no_errors SLK HGNC SMAD5 4090 genome.wustl.edu 37 5 135515182 135515182 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 135515182 135515182 G T SNP SMAD5 ENST00000514641 human ensembl 70_37 +1 known rna NULL NULL 0.236 - - - no_errors SMAD5 HGNC SMAP2 64744 genome.wustl.edu 37 1 40881971 40881971 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 40881971 40881971 C A SNP SMAP2 ENST00000372718 human ensembl 70_37 +1 known missense c.805 p.L269I 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP2 HGNC SMC2 10592 genome.wustl.edu 37 9 106887246 106887246 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 106887246 106887246 G T SNP SMC2 ENST00000286398 human ensembl 70_37 +1 known nonsense c.2311 p.E771* 1.000 NULL pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC SMEK1 55671 genome.wustl.edu 37 14 91952071 91952071 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 91952071 91952071 T G SNP SMEK1 ENST00000554943 human ensembl 70_37 -1 known missense c.202 p.T68P 1.000 NULL pfam_DUF625,superfamily_ARM-type_fold - no_errors SMEK1 HGNC SMG7 9887 genome.wustl.edu 37 1 183518411 183518411 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 183518411 183518411 C A SNP SMG7 ENST00000507469 human ensembl 70_37 +1 known missense c.2823 p.F941L 1.000 NULL pfam_EST1 - no_errors SMG7 HGNC SMPDL3A 10924 genome.wustl.edu 37 6 123130386 123130386 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 123130386 123130386 G T SNP SMPDL3A ENST00000368440 human ensembl 70_37 +1 known missense c.1195 p.D399Y 0.036 pirsf_ASM-like_Pdiesterase_prd pfam_Metallo_PEstase_dom,pirsf_ASM-like_Pdiesterase_prd - no_errors SMPDL3A HGNC SMTNL1 219537 genome.wustl.edu 37 11 57313464 57313464 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 57313464 57313464 G A SNP SMTNL1 ENST00000457912 human ensembl 70_37 +1 known missense c.1082 p.G361E 0.287 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTNL1 HGNC SNAP25 6616 genome.wustl.edu 37 20 10287971 10287971 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 10287971 10287971 G A SNP SNAP25 ENST00000495883 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors SNAP25 HGNC SNAP91 9892 genome.wustl.edu 37 6 84417533 84417533 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 84417533 84417533 C A SNP SNAP91 ENST00000369694 human ensembl 70_37 -1 known missense c.114 p.K38N 1.000 pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC SNAPC4 6621 genome.wustl.edu 37 9 139290190 139290190 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 139290190 139290190 G A SNP SNAPC4 ENST00000298532 human ensembl 70_37 -1 known silent c.210 p.D70 0.194 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC SNCAIP 9627 genome.wustl.edu 37 5 121776323 121776323 + Splice_Site SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 121776323 121776323 G T SNP SNCAIP ENST00000379533 human ensembl 70_37 +1 known splice_site c.1438-1 e7-1 1.000 - - - no_errors SNCAIP HGNC SNF8 11267 genome.wustl.edu 37 17 47014436 47014436 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 47014436 47014436 C T SNP SNF8 ENST00000502492 human ensembl 70_37 -1 known missense c.295 p.E99K 1.000 pfam_EAP30,pirsf_ESCRT-2_cplx_Snf8 pfam_EAP30,pirsf_ESCRT-2_cplx_Snf8 - no_errors SNF8 HGNC SNORD111B 100113402 genome.wustl.edu 37 16 70563471 70563471 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 70563471 70563471 T G SNP SNORD111B ENST00000408587 human ensembl 70_37 +1 known rna NULL NULL 0.055 - - - no_errors SNORD111B HGNC SNORD115-1 338433 genome.wustl.edu 37 15 25415913 25415913 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 25415913 25415913 G T SNP SNORD115-1 ENST00000364961 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors SNORD115-1 HGNC SNORD115-38 100033812 genome.wustl.edu 37 15 25485057 25485057 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 25485057 25485057 G A SNP SNORD115-38 ENST00000365037 human ensembl 70_37 +1 known rna NULL NULL 0.990 - - - no_errors SNORD115-38 HGNC SNORD3B-2 780852 genome.wustl.edu 37 17 18967183 18967183 + RNA SNP C C G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 18967183 18967183 C G SNP SNORD3B-2 ENST00000571722 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SNORD3B-2 Clone_based_vega_gene SNX14 57231 genome.wustl.edu 37 6 86267721 86267721 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 86267721 86267721 C A SNP SNX14 ENST00000314673 human ensembl 70_37 -1 known nonsense c.607 p.E203* 1.000 pfam_Phox_assoc,smart_PX_assoc_Snx13,pfscan_Phox_assoc pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_Regulat_G_prot_signal,superfamily_Phox,superfamily_Regulat_G_prot_signal_superfam,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal - no_errors SNX14 HGNC SNX21 90203 genome.wustl.edu 37 20 44470405 44470405 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 44470405 44470405 C T SNP SNX21 ENST00000344780 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SNX21 HGNC SNX25 83891 genome.wustl.edu 37 4 186168499 186168499 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 186168499 186168499 A C SNP SNX25 ENST00000506896 human ensembl 70_37 +1 known rna NULL NULL 0.987 - - - no_errors SNX25 HGNC SNX27 81609 genome.wustl.edu 37 1 151665923 151665923 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 151665923 151665923 C T SNP SNX27 ENST00000368843 human ensembl 70_37 +1 known silent c.1542 p.F514 0.993 NULL pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX27 HGNC SOGA2 23255 genome.wustl.edu 37 18 8824835 8824835 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 8824835 8824835 C A SNP SOGA2 ENST00000359865 human ensembl 70_37 +1 known silent c.3327 p.I1109 0.031 NULL pfam_DUF3166 - no_errors SOGA2 HGNC SOGA3 387104 genome.wustl.edu 37 6 127797568 127797568 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 127797568 127797568 C A SNP SOGA3 ENST00000368268 human ensembl 70_37 -1 known nonsense c.1603 p.E535* 1.000 pfam_DUF3166 pfam_DUF3166 - no_errors SOGA3 HGNC SOHLH2 54937 genome.wustl.edu 37 13 36776105 36776105 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 36776105 36776105 C T SNP SOHLH2 ENST00000554962 human ensembl 70_37 -1 known silent c.405 p.A135 0.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors SOHLH2 HGNC SORCS2 57537 genome.wustl.edu 37 4 7668894 7668894 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 7668894 7668894 G A SNP SORCS2 ENST00000507866 human ensembl 70_37 +1 known missense c.1115 p.R372Q 0.981 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC SORCS3 22986 genome.wustl.edu 37 10 106974212 106974212 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 106974212 106974212 T C SNP SORCS3 ENST00000369701 human ensembl 70_37 +1 known silent c.2388 p.I796 0.988 superfamily_PKD_dom,smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC SORT1 6272 genome.wustl.edu 37 1 109869778 109869778 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 109869778 109869778 G A SNP SORT1 ENST00000256637 human ensembl 70_37 -1 known silent c.1479 p.S493 0.851 smart_VPS10 pfam_BNR_rpt,smart_VPS10 - no_errors SORT1 HGNC SOS1 6654 genome.wustl.edu 37 2 39213450 39213450 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 39213450 39213450 A G SNP SOS1 ENST00000402219 human ensembl 70_37 -1 known missense c.3517 p.S1173P 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC SOS1 6654 genome.wustl.edu 37 2 39249758 39249758 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 39249758 39249758 C A SNP SOS1 ENST00000402219 human ensembl 70_37 -1 known missense c.1811 p.G604V 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC SP100 6672 genome.wustl.edu 37 2 231326077 231326077 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 231326077 231326077 T G SNP SP100 ENST00000340126 human ensembl 70_37 +1 known silent c.921 p.V307 0.001 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP100 HGNC SPAG17 200162 genome.wustl.edu 37 1 118629688 118629688 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 118629688 118629688 C T SNP SPAG17 ENST00000463628 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SPAG17 HGNC SPAG5 10615 genome.wustl.edu 37 17 26913507 26913507 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 26913507 26913507 T G SNP SPAG5 ENST00000321765 human ensembl 70_37 -1 known missense c.1448 p.K483T 0.990 NULL NULL - no_errors SPAG5 HGNC SPAG9 9043 genome.wustl.edu 37 17 49054558 49054558 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 49054558 49054558 A C SNP SPAG9 ENST00000262013 human ensembl 70_37 -1 known missense c.3434 p.F1145C 1.000 superfamily_WD40_repeat_dom pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC SPATA31D1 389763 genome.wustl.edu 37 9 84609736 84609736 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 84609736 84609736 G A SNP SPATA31D1 ENST00000344803 human ensembl 70_37 +1 known missense c.4351 p.A1451T 0.000 NULL NULL - no_errors SPATA31D1 HGNC SPATA31D3 389762 genome.wustl.edu 37 9 84564737 84564737 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 84564737 84564737 T G SNP SPATA31D3 ENST00000334208 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SPATA31D3 HGNC SPATA31D4 389761 genome.wustl.edu 37 9 84549182 84549182 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 84549182 84549182 A C SNP SPATA31D4 ENST00000341875 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors SPATA31D4 HGNC SPATS1 221409 genome.wustl.edu 37 6 44328224 44328224 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 44328224 44328224 C T SNP SPATS1 ENST00000288390 human ensembl 70_37 +1 known missense c.329 p.S110F 0.049 NULL NULL - no_errors SPATS1 HGNC SPEG 10290 genome.wustl.edu 37 2 220307972 220307972 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 220307972 220307972 G T SNP SPEG ENST00000498378 human ensembl 70_37 +1 known rna NULL NULL 0.181 - - - no_errors SPEG HGNC SPEN 23013 genome.wustl.edu 37 1 16245496 16245496 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 16245496 16245496 A C SNP SPEN ENST00000375759 human ensembl 70_37 +1 known missense c.1471 p.K491Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC SPG11 80208 genome.wustl.edu 37 15 44876670 44876670 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 44876670 44876670 C A SNP SPG11 ENST00000261866 human ensembl 70_37 -1 known missense c.5208 p.E1736D 0.833 NULL NULL - no_errors SPG11 HGNC SPOCD1 90853 genome.wustl.edu 37 1 32259416 32259416 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 32259416 32259416 G T SNP SPOCD1 ENST00000360482 human ensembl 70_37 -1 known missense c.2466 p.S822R 0.183 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC SPPL2C 162540 genome.wustl.edu 37 17 43922606 43922606 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 43922606 43922606 G T SNP SPPL2C ENST00000329196 human ensembl 70_37 +1 known missense c.334 p.G112C 0.453 pfam_Protease-assoc_domain pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Peptidase_A22 - no_errors SPPL2C HGNC SPTA1 6708 genome.wustl.edu 37 1 158622383 158622383 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 158622383 158622383 A G SNP SPTA1 ENST00000368148 human ensembl 70_37 -1 known silent c.3249 p.N1083 0.997 NULL pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC SPTBN1 6711 genome.wustl.edu 37 2 54857139 54857139 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 54857139 54857139 A G SNP SPTBN1 ENST00000356805 human ensembl 70_37 +1 known missense c.2780 p.K927R 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,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 SPTBN5 51332 genome.wustl.edu 37 15 42178429 42178429 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 42178429 42178429 G A SNP SPTBN5 ENST00000320955 human ensembl 70_37 -1 known missense c.1024 p.R342W 0.996 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC SPZ1 84654 genome.wustl.edu 37 5 79616659 79616659 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 79616659 79616659 G T SNP SPZ1 ENST00000296739 human ensembl 70_37 +1 known missense c.625 p.D209Y 0.001 NULL NULL - no_errors SPZ1 HGNC SRCAP 10847 genome.wustl.edu 37 16 30724941 30724941 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 30724941 30724941 G A SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.2402 p.R801H 1.000 pfam_SNF2_N,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC SRCAP 10847 genome.wustl.edu 37 16 30735135 30735135 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 30735135 30735135 A C SNP SRCAP ENST00000262518 human ensembl 70_37 +1 known missense c.4390 p.T1464P 0.891 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC SRD5A3 79644 genome.wustl.edu 37 4 56233805 56233805 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 56233805 56233805 C A SNP SRD5A3 ENST00000264228 human ensembl 70_37 +1 known missense c.613 p.L205I 1.000 pfam_3-oxo-5_a-steroid_4-DH_C pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors SRD5A3 HGNC SRGAP3 9901 genome.wustl.edu 37 3 9069806 9069806 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 9069806 9069806 C A SNP SRGAP3 ENST00000360413 human ensembl 70_37 -1 known missense c.1445 p.R482I 1.000 pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC SRP19 6728 genome.wustl.edu 37 5 112203080 112203080 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 112203080 112203080 A C SNP SRP19 ENST00000282999 human ensembl 70_37 +1 putative missense c.313 p.S105R 0.953 NULL pfam_Signal_recog_particle_SRP19,superfamily_Signal_recog_particle_SRP19 - no_errors SRP19 HGNC SRPK2 6733 genome.wustl.edu 37 7 105029109 105029109 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 105029109 105029109 C A SNP SRPK2 ENST00000393651 human ensembl 70_37 -1 known missense c.57 p.E19D 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors SRPK2 HGNC SRSF12 135295 genome.wustl.edu 37 6 89808347 89808347 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 89808347 89808347 A C SNP SRSF12 ENST00000452027 human ensembl 70_37 -1 known missense c.736 p.F246V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF12 HGNC SRSF3 6428 genome.wustl.edu 37 6 36566676 36566676 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 36566676 36566676 G T SNP SRSF3 ENST00000373715 human ensembl 70_37 +1 known missense c.257 p.R86I 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF3 HGNC SSB 6741 genome.wustl.edu 37 2 170666792 170666792 + Splice_Site SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 170666792 170666792 G T SNP SSB ENST00000260956 human ensembl 70_37 +1 known splice_site c.670-1 e8-1 1.000 - - - no_errors SSB HGNC SSC5D 284297 genome.wustl.edu 37 19 56029462 56029462 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 56029462 56029462 G T SNP SSC5D ENST00000389623 human ensembl 70_37 +1 known silent c.3819 p.T1273 0.000 NULL pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors SSC5D HGNC SSRP1 6749 genome.wustl.edu 37 11 57100475 57100475 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 57100475 57100475 G T SNP SSRP1 ENST00000278412 human ensembl 70_37 -1 known missense c.495 p.F165L 1.000 NULL pfam_SSRP1_dom,pfam_DUF1747,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,prints_SSrcognition - no_errors SSRP1 HGNC SSU72 29101 genome.wustl.edu 37 1 1499997 1499997 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 1499997 1499997 C T SNP SSU72 ENST00000359060 human ensembl 70_37 -1 known missense c.380 p.R127Q 0.004 NULL pfam_RNA_pol_II_suA,superfamily_Ptyr_pPase_SF - no_errors SSU72 HGNC ST3GAL1 6482 genome.wustl.edu 37 8 134477189 134477189 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 134477189 134477189 G A SNP ST3GAL1 ENST00000319914 human ensembl 70_37 -1 known missense c.515 p.A172V 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL1 HGNC ST6GALNAC3 256435 genome.wustl.edu 37 1 76877955 76877955 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 76877955 76877955 G A SNP ST6GALNAC3 ENST00000328299 human ensembl 70_37 +1 known missense c.476 p.R159H 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC3 HGNC ST6GALNAC4 27090 genome.wustl.edu 37 9 130677140 130677141 + RNA INS - - G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 130677140 130677141 - G INS ST6GALNAC4 ENST00000483438 human ensembl 70_37 -1 known rna NULL NULL 0.003:0.028 - - - no_errors ST6GALNAC4 HGNC STAB2 55576 genome.wustl.edu 37 12 104151983 104151983 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 104151983 104151983 C T SNP STAB2 ENST00000388887 human ensembl 70_37 +1 known silent c.7023 p.G2341 0.362 superfamily_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt,smart_EG-like_dom,smart_EGF_laminin,smart_Prot_inh_squash,smart_EGF-like_Ca-bd,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC STAG2 10735 genome.wustl.edu 37 X 123229269 123229269 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 123229269 123229269 C A SNP STAG2 ENST00000218089 human ensembl 70_37 +1 known missense c.3753 p.F1251L 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG2 HGNC STAP1 26228 genome.wustl.edu 37 4 68456646 68456646 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 68456646 68456646 A C SNP STAP1 ENST00000265404 human ensembl 70_37 +1 known missense c.704 p.N235T 0.966 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors STAP1 HGNC STARD6 147323 genome.wustl.edu 37 18 51863617 51863617 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 51863617 51863617 G A SNP STARD6 ENST00000307844 human ensembl 70_37 -1 known missense c.145 p.R49C 1.000 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD6 HGNC STARD9 57519 genome.wustl.edu 37 15 42976720 42976720 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 42976720 42976720 G T SNP STARD9 ENST00000290607 human ensembl 70_37 +1 known missense c.2944 p.D982Y 0.000 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC STARD9 57519 genome.wustl.edu 37 15 42983559 42983559 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 42983559 42983559 G T SNP STARD9 ENST00000290607 human ensembl 70_37 +1 known missense c.9783 p.K3261N 0.021 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC STAT4 6775 genome.wustl.edu 37 2 191996589 191996589 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 191996589 191996589 C T SNP STAT4 ENST00000409995 human ensembl 70_37 -1 putative missense c.311 p.R104Q 0.000 NULL pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction - no_errors STAT4 HGNC STAU2 27067 genome.wustl.edu 37 8 74464260 74464260 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 74464260 74464260 A G SNP STAU2 ENST00000524300 human ensembl 70_37 -1 known missense c.1517 p.I506T 1.000 NULL pfam_Ds-RNA-bd,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors STAU2 HGNC STEAP1B 256227 genome.wustl.edu 37 7 22532284 22532284 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 22532284 22532284 G A SNP STEAP1B ENST00000406890 human ensembl 70_37 -1 known missense c.605 p.S202F 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP1B HGNC STEAP2-AS1 100874100 genome.wustl.edu 37 7 89840798 89840798 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 89840798 89840798 C T SNP STEAP2-AS1 ENST00000478318 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors STEAP2-AS1 HGNC STIM2 57620 genome.wustl.edu 37 4 27009185 27009185 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 27009185 27009185 G T SNP STIM2 ENST00000382009 human ensembl 70_37 +1 known nonsense c.1273 p.E425* 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM - no_errors STIM2 HGNC STK33 65975 genome.wustl.edu 37 11 8462277 8462277 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 8462277 8462277 C T SNP STK33 ENST00000315204 human ensembl 70_37 -1 known missense c.895 p.D299N 0.996 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STK33 HGNC STON1-GTF2A1L 286749 genome.wustl.edu 37 2 48808733 48808733 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 48808733 48808733 G T SNP STON1-GTF2A1L ENST00000309827 human ensembl 70_37 +1 known nonsense c.961 p.E321* 1.000 pfscan_SHD pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC STRADB 55437 genome.wustl.edu 37 2 202344746 202344746 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 202344746 202344746 C A SNP STRADB ENST00000392249 human ensembl 70_37 +1 known missense c.1129 p.L377I 0.996 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 STRADB HGNC STX3 6809 genome.wustl.edu 37 11 59562924 59562924 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 59562924 59562924 A C SNP STX3 ENST00000337979 human ensembl 70_37 +1 known missense c.755 p.K252T 0.998 pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX3 HGNC STX8 9482 genome.wustl.edu 37 17 9471774 9471774 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 9471774 9471774 C T SNP STX8 ENST00000306357 human ensembl 70_37 -1 known missense c.31 p.D11N 1.000 NULL pfam_T_SNARE_dom,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX8 HGNC STXBP4 252983 genome.wustl.edu 37 17 53120633 53120633 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 53120633 53120633 G T SNP STXBP4 ENST00000376352 human ensembl 70_37 +1 known nonsense c.892 p.E298* 1.000 NULL pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP - no_errors STXBP4 HGNC SUCLG2 8801 genome.wustl.edu 37 3 67579602 67579602 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 67579602 67579602 C A SNP SUCLG2 ENST00000307227 human ensembl 70_37 -1 known nonsense c.235 p.E79* 1.000 pfam_ATP-grasp_succ-CoA_synth-type,tigrfam_Succ_CoA_synthase_bsu pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu - no_errors SUCLG2 HGNC SUGP2 10147 genome.wustl.edu 37 19 19136044 19136044 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 19136044 19136044 A C SNP SUGP2 ENST00000337018 human ensembl 70_37 -1 known missense c.1113 p.C371W 0.994 NULL pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP2 HGNC SULF1 23213 genome.wustl.edu 37 8 70550804 70550804 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 70550804 70550804 G A SNP SULF1 ENST00000260128 human ensembl 70_37 +1 known silent c.2352 p.E784 1.000 superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC SUN1 23353 genome.wustl.edu 37 7 892253 892253 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 892253 892253 C T SNP SUN1 ENST00000456758 human ensembl 70_37 +1 known nonsense c.1426 p.R476* 1.000 pfam_RNA-bd_mt pfam_RNA-bd_mt,pfam_Sad1_UNC_C - no_errors SUN1 HGNC SUSD1 64420 genome.wustl.edu 37 9 114919845 114919845 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 114919845 114919845 C A SNP SUSD1 ENST00000374264 human ensembl 70_37 -1 known missense c.152 p.R51I 0.001 smart_EG-like_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD1 HGNC SUSD4 55061 genome.wustl.edu 37 1 223396729 223396729 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 223396729 223396729 A C SNP SUSD4 ENST00000343846 human ensembl 70_37 -1 known missense c.1306 p.S436A 1.000 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC SVEP1 79987 genome.wustl.edu 37 9 113169315 113169315 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 113169315 113169315 A C SNP SVEP1 ENST00000401783 human ensembl 70_37 -1 known missense c.8565 p.I2855M 0.564 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC SVIL 6840 genome.wustl.edu 37 10 29821086 29821086 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 29821086 29821086 C T SNP SVIL ENST00000355867 human ensembl 70_37 -1 known silent c.1854 p.E618 1.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors SVIL HGNC SWI5 375757 genome.wustl.edu 37 9 131038431 131038431 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 131038431 131038431 C T SNP SWI5 ENST00000320188 human ensembl 70_37 +1 known missense c.7 p.R3W 0.000 NULL pfam_DNA-repair_Swi5 - no_errors SWI5 HGNC SYCE1 93426 genome.wustl.edu 37 10 135367772 135367772 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 135367772 135367772 G T SNP SYCE1 ENST00000479535 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SYCE1 HGNC SYCE1L 100130958 genome.wustl.edu 37 16 77245136 77245136 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 77245136 77245136 A G SNP SYCE1L ENST00000378644 human ensembl 70_37 +1 known missense c.386 p.D129G 0.011 NULL NULL - no_errors SYCE1L HGNC SYCP2 10388 genome.wustl.edu 37 20 58489189 58489189 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 58489189 58489189 C A SNP SYCP2 ENST00000357552 human ensembl 70_37 -1 known missense c.752 p.R251I 0.924 NULL NULL - no_errors SYCP2 HGNC SYDE2 84144 genome.wustl.edu 37 1 85665949 85665949 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 85665949 85665949 C A SNP SYDE2 ENST00000341460 human ensembl 70_37 -1 known missense c.731 p.R244I 0.990 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE2 HGNC SYNE1 23345 genome.wustl.edu 37 6 152565761 152565761 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 152565761 152565761 C A SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known nonsense c.19603 p.E6535* 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC SYNE1 23345 genome.wustl.edu 37 6 152576221 152576221 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 152576221 152576221 G T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.19264 p.L6422I 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC SYNE1 23345 genome.wustl.edu 37 6 152768678 152768678 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 152768678 152768678 G T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.3584 p.S1195Y 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC SYNE1 23345 genome.wustl.edu 37 6 152787212 152787212 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 152787212 152787212 G T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known missense c.1634 p.S545Y 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC SYNE2 23224 genome.wustl.edu 37 14 64449481 64449481 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 64449481 64449481 G T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.1970 p.R657I 1.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNE2 23224 genome.wustl.edu 37 14 64529495 64529495 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 64529495 64529495 G T SNP SYNE2 ENST00000358025 human ensembl 70_37 +1 known missense c.10094 p.R3365I 0.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC SYNGAP1 8831 genome.wustl.edu 37 6 33391280 33391280 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 33391280 33391280 A T SNP SYNGAP1 ENST00000418600 human ensembl 70_37 +1 known missense c.94 p.T32S 1.000 smart_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors SYNGAP1 HGNC SYNJ1 8867 genome.wustl.edu 37 21 34072399 34072399 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 34072399 34072399 A C SNP SYNJ1 ENST00000433931 human ensembl 70_37 -1 known missense c.345 p.H115Q 1.000 pfam_Syja_N pfam_Syja_N,pfam_Endo/exonuclease/phosphatase,pfam_DUF1866,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ1 HGNC SYNPO 11346 genome.wustl.edu 37 5 149997971 149997971 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 149997971 149997971 C A SNP SYNPO ENST00000394243 human ensembl 70_37 +1 known missense c.42 p.S14R 0.000 NULL NULL - no_errors SYNPO HGNC SYNPO2L 79933 genome.wustl.edu 37 10 75406540 75406540 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 75406540 75406540 C T SNP SYNPO2L ENST00000394810 human ensembl 70_37 -1 known missense c.2870 p.R957Q 0.011 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC SYT16 83851 genome.wustl.edu 37 14 62567172 62567172 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 62567172 62567172 C T SNP SYT16 ENST00000430451 human ensembl 70_37 +1 novel missense c.1685 p.T562M 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT16 HGNC SYTL4 94121 genome.wustl.edu 37 X 99930370 99930370 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 99930370 99930370 G T SNP SYTL4 ENST00000491602 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SYTL4 HGNC SZRD1 26099 genome.wustl.edu 37 1 16714140 16714140 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 16714140 16714140 T C SNP SZRD1 ENST00000476423 human ensembl 70_37 +1 known missense c.188 p.L63P 0.000 NULL NULL - no_errors SZRD1 HGNC TAAR2 9287 genome.wustl.edu 37 6 132938869 132938869 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 132938869 132938869 A G SNP TAAR2 ENST00000367931 human ensembl 70_37 -1 known missense c.476 p.V159A 0.050 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt - no_errors TAAR2 HGNC TAAR2 9287 genome.wustl.edu 37 6 132939229 132939229 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 132939229 132939229 G T SNP TAAR2 ENST00000367931 human ensembl 70_37 -1 known missense c.116 p.S39Y 0.020 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt - no_errors TAAR2 HGNC TAAR8 83551 genome.wustl.edu 37 6 132874749 132874749 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 132874749 132874749 T C SNP TAAR8 ENST00000275200 human ensembl 70_37 +1 known silent c.918 p.N306 0.538 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Trace_amine_rcpt - no_errors TAAR8 HGNC TACC1 6867 genome.wustl.edu 37 8 38684717 38684717 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 38684717 38684717 A C SNP TACC1 ENST00000379931 human ensembl 70_37 +1 known missense c.1520 p.D507A 0.997 NULL pfam_TACC - no_errors TACC1 HGNC TAF1 6872 genome.wustl.edu 37 X 70597014 70597014 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 70597014 70597014 A C SNP TAF1 ENST00000449580 human ensembl 70_37 +1 known missense c.684 p.E228D 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC TAF1L 138474 genome.wustl.edu 37 9 32630671 32630671 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 32630671 32630671 T C SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.4907 p.D1636G 1.000 pirsf_TAF1_animal,superfamily_Bromodomain pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC TAF1L 138474 genome.wustl.edu 37 9 32633243 32633243 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 32633243 32633243 T G SNP TAF1L ENST00000242310 human ensembl 70_37 -1 known missense c.2335 p.T779P 1.000 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591 pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC TAF5 6877 genome.wustl.edu 37 10 105141587 105141587 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 105141587 105141587 A T SNP TAF5 ENST00000369839 human ensembl 70_37 +1 known missense c.1523 p.K508I 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TAF5 HGNC TAGAP 117289 genome.wustl.edu 37 6 159457048 159457048 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 159457048 159457048 C A SNP TAGAP ENST00000367066 human ensembl 70_37 -1 known missense c.2007 p.Q669H 0.004 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors TAGAP HGNC TAGLN3 29114 genome.wustl.edu 37 3 111719696 111719696 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 111719696 111719696 T G SNP TAGLN3 ENST00000273368 human ensembl 70_37 +1 known silent c.258 p.A86 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin - no_errors TAGLN3 HGNC TAP2 6891 genome.wustl.edu 37 6 32800468 32800468 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 32800468 32800468 T G SNP TAP2 ENST00000374897 human ensembl 70_37 -1 known missense c.1079 p.E360A 0.988 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,prints_ABC_B3,tigrfam_Ag_transporter2 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_ABC_B3,prints_ABC_B2,tigrfam_Ag_transporter2 - no_errors TAP2 HGNC TAPBP 6892 genome.wustl.edu 37 6 33281019 33281019 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 33281019 33281019 C A SNP TAPBP ENST00000426633 human ensembl 70_37 -1 known missense c.444 p.E148D 0.917 NULL pfam_Ig_C1-set,pfscan_Ig-like,prints_Tapasin - no_errors TAPBP HGNC TARSL2 123283 genome.wustl.edu 37 15 102197161 102197161 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 102197161 102197161 G A SNP TARSL2 ENST00000335968 human ensembl 70_37 -1 known nonsense c.2224 p.R742* 1.000 pfam_Anticodon-bd,superfamily_Anticodon-bd,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARSL2 HGNC TAS2R16 50833 genome.wustl.edu 37 7 122635279 122635279 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 122635279 122635279 G A SNP TAS2R16 ENST00000249284 human ensembl 70_37 -1 known missense c.410 p.T137I 0.006 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R16 HGNC TBC1D22A 25771 genome.wustl.edu 37 22 47287219 47287219 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 47287219 47287219 G T SNP TBC1D22A ENST00000337137 human ensembl 70_37 +1 known nonsense c.766 p.E256* 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22A HGNC TBC1D22B 55633 genome.wustl.edu 37 6 37247081 37247081 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 37247081 37247081 T C SNP TBC1D22B ENST00000373491 human ensembl 70_37 +1 known missense c.115 p.F39L 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22B HGNC TBC1D25 4943 genome.wustl.edu 37 X 48417641 48417641 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 48417641 48417641 T C SNP TBC1D25 ENST00000376771 human ensembl 70_37 +1 known silent c.612 p.F204 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D25 HGNC TBC1D2B 23102 genome.wustl.edu 37 15 78346325 78346325 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 78346325 78346325 C T SNP TBC1D2B ENST00000482562 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TBC1D2B HGNC TBC1D8B 54885 genome.wustl.edu 37 X 106066571 106066571 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 106066571 106066571 T G SNP TBC1D8B ENST00000357242 human ensembl 70_37 +1 known missense c.702 p.F234L 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC TBC1D8B 54885 genome.wustl.edu 37 X 106070569 106070569 + Splice_Site SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 106070569 106070569 T G SNP TBC1D8B ENST00000357242 human ensembl 70_37 +1 known splice_site c.1203+2 e7+2 1.000 - - - no_errors TBC1D8B HGNC TBC1D9B 23061 genome.wustl.edu 37 5 179315238 179315238 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 179315238 179315238 C A SNP TBC1D9B ENST00000356834 human ensembl 70_37 -1 known missense c.1119 p.M373I 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC TBL1XR1 79718 genome.wustl.edu 37 3 176750766 176750766 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 176750766 176750766 T G SNP TBL1XR1 ENST00000430069 human ensembl 70_37 -1 known missense c.1409 p.N470T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1XR1 HGNC TBL1XR1 79718 genome.wustl.edu 37 3 176763937 176763937 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 176763937 176763937 T G SNP TBL1XR1 ENST00000430069 human ensembl 70_37 -1 known missense c.905 p.Q302P 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1XR1 HGNC TBPL2 387332 genome.wustl.edu 37 14 55903419 55903419 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 55903419 55903419 T G SNP TBPL2 ENST00000247219 human ensembl 70_37 -1 known silent c.468 p.S156 0.000 NULL pfam_TBP,prints_TBP - no_errors TBPL2 HGNC TBRG1 84897 genome.wustl.edu 37 11 124500738 124500738 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 124500738 124500738 C T SNP TBRG1 ENST00000441174 human ensembl 70_37 +1 known nonsense c.934 p.R312* 1.000 pfam_FYrich_C,smart_FYrich_C pfam_FYrich_N,pfam_FYrich_C,smart_FYrich_N,smart_FYrich_C - no_errors TBRG1 HGNC TBX2 6909 genome.wustl.edu 37 17 59485586 59485586 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 59485586 59485586 C T SNP TBX2 ENST00000240328 human ensembl 70_37 +1 novel missense c.1858 p.R620C 1.000 NULL pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box,prints_TF_Brachyury - no_errors TBX2 HGNC TBX20 57057 genome.wustl.edu 37 7 35242127 35242127 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 35242127 35242127 C T SNP TBX20 ENST00000408931 human ensembl 70_37 -1 known missense c.1259 p.R420Q 0.991 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX20 HGNC TBX5 6910 genome.wustl.edu 37 12 114793616 114793616 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 114793616 114793616 G T SNP TBX5 ENST00000310346 human ensembl 70_37 -1 known missense c.1278 p.F426L 1.000 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC TC2N 123036 genome.wustl.edu 37 14 92258717 92258717 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 92258717 92258717 T G SNP TC2N ENST00000340892 human ensembl 70_37 -1 known missense c.1041 p.K347N 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors TC2N HGNC TCAIM 285343 genome.wustl.edu 37 3 44441979 44441979 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 44441979 44441979 G A SNP TCAIM ENST00000342649 human ensembl 70_37 +1 known missense c.1018 p.E340K 0.999 NULL NULL - no_errors TCAIM HGNC TCEAL3 85012 genome.wustl.edu 37 X 102864443 102864443 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 102864443 102864443 G T SNP TCEAL3 ENST00000243286 human ensembl 70_37 +1 known nonsense c.451 p.E151* 1.000 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL3 HGNC TCERG1 10915 genome.wustl.edu 37 5 145878161 145878161 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 145878161 145878161 A C SNP TCERG1 ENST00000296702 human ensembl 70_37 +1 known missense c.2294 p.K765T 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors TCERG1 HGNC TCF12 6938 genome.wustl.edu 37 15 57578977 57578977 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 57578977 57578977 C A SNP TCF12 ENST00000560191 human ensembl 70_37 +1 putative rna NULL NULL 0.980 - - - no_errors TCF12 HGNC TCF4 6925 genome.wustl.edu 37 18 52927229 52927229 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 52927229 52927229 G T SNP TCF4 ENST00000398339 human ensembl 70_37 -1 known missense c.1326 p.S442R 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TCF4 HGNC TCHH 7062 genome.wustl.edu 37 1 152081445 152081445 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 152081445 152081445 G T SNP TCHH ENST00000368804 human ensembl 70_37 -1 known missense c.4248 p.F1416L 0.003 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC TCP10 6953 genome.wustl.edu 37 6 167786670 167786670 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 167786670 167786670 T C SNP TCP10 ENST00000397829 human ensembl 70_37 -1 known missense c.968 p.D323G 0.001 NULL NULL - no_errors TCP10 HGNC TCP10L 140290 genome.wustl.edu 37 21 33949030 33949030 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 33949030 33949030 T G SNP TCP10L ENST00000472557 human ensembl 70_37 -1 known rna NULL NULL 0.011 - - - no_errors TCP10L HGNC TCP10L2 401285 genome.wustl.edu 37 6 167608944 167608944 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 167608944 167608944 G T SNP TCP10L2 ENST00000473271 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors TCP10L2 HGNC TCP10L2 401285 genome.wustl.edu 37 6 167610374 167610374 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 167610374 167610374 G T SNP TCP10L2 ENST00000473271 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors TCP10L2 HGNC TCP11 6954 genome.wustl.edu 37 6 35088206 35088206 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 35088206 35088206 C A SNP TCP11 ENST00000311875 human ensembl 70_37 -1 known missense c.972 p.E324D 1.000 pfam_Tcp11 pfam_Tcp11 - no_errors TCP11 HGNC TDGF1 6997 genome.wustl.edu 37 3 46658764 46658764 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 46658764 46658764 A C SNP TDGF1 ENST00000444264 human ensembl 70_37 +1 putative rna NULL NULL 0.971 - - - no_errors TDGF1 HGNC TDP2 51567 genome.wustl.edu 37 6 24658980 24658980 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 24658980 24658980 A C SNP TDP2 ENST00000478285 human ensembl 70_37 -1 known rna NULL NULL 0.007 - - - no_errors TDP2 HGNC TDRD5 163589 genome.wustl.edu 37 1 179562912 179562912 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 179562912 179562912 G A SNP TDRD5 ENST00000444136 human ensembl 70_37 +1 known missense c.550 p.D184N 0.996 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC TDRD6 221400 genome.wustl.edu 37 6 46659321 46659321 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 46659321 46659321 T G SNP TDRD6 ENST00000316081 human ensembl 70_37 +1 known missense c.3456 p.I1152M 0.377 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC TDRD6 221400 genome.wustl.edu 37 6 46660606 46660606 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 46660606 46660606 G T SNP TDRD6 ENST00000316081 human ensembl 70_37 +1 known missense c.4741 p.D1581Y 1.000 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC TEFM 79736 genome.wustl.edu 37 17 29226337 29226337 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 29226337 29226337 C T SNP TEFM ENST00000581216 human ensembl 70_37 -1 known silent c.933 p.A311 0.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors TEFM HGNC TEFM 79736 genome.wustl.edu 37 17 29226360 29226360 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 29226360 29226360 G T SNP TEFM ENST00000581216 human ensembl 70_37 -1 known missense c.910 p.L304I 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom - no_errors TEFM HGNC TEK 7010 genome.wustl.edu 37 9 27183515 27183515 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 27183515 27183515 T G SNP TEK ENST00000380036 human ensembl 70_37 +1 known missense c.1089 p.S363R 1.000 pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC TEKT4P2 100132288 genome.wustl.edu 37 21 9907319 9907319 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 9907319 9907319 G T SNP TEKT4P2 ENST00000416067 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors TEKT4P2 HGNC TENM1 10178 genome.wustl.edu 37 X 123556133 123556133 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 123556133 123556133 T G SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.4460 p.D1487A 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC TENM1 10178 genome.wustl.edu 37 X 123787498 123787498 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 123787498 123787498 G T SNP TENM1 ENST00000422452 human ensembl 70_37 -1 known missense c.1304 p.S435Y 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC TENM3 55714 genome.wustl.edu 37 4 183676343 183676343 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 183676343 183676343 T G SNP TENM3 ENST00000406950 human ensembl 70_37 +1 known missense c.4823 p.F1608C 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC TENM3 55714 genome.wustl.edu 37 4 183720913 183720913 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 183720913 183720913 C T SNP TENM3 ENST00000406950 human ensembl 70_37 +1 known silent c.7509 p.A2503 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC TEX11 56159 genome.wustl.edu 37 X 69945180 69945180 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 69945180 69945180 G T SNP TEX11 ENST00000344304 human ensembl 70_37 -1 known missense c.902 p.S301Y 0.018 pfam_Meiosis_specific_SPO22 pfam_Meiosis_specific_SPO22,smart_TPR_repeat - no_errors TEX11 HGNC TEX15 56154 genome.wustl.edu 37 8 30700091 30700091 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 30700091 30700091 G T SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.6443 p.A2148D 0.013 NULL NULL - no_errors TEX15 HGNC TEX15 56154 genome.wustl.edu 37 8 30702941 30702941 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 30702941 30702941 C T SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.3593 p.S1198N 0.046 NULL NULL - no_errors TEX15 HGNC TEX15 56154 genome.wustl.edu 37 8 30704759 30704759 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 30704759 30704759 G T SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.1775 p.S592Y 0.994 NULL NULL - no_errors TEX15 HGNC TEX15 56154 genome.wustl.edu 37 8 30704948 30704948 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 30704948 30704948 A C SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known missense c.1586 p.I529S 0.013 NULL NULL - no_errors TEX15 HGNC TEX15 56154 genome.wustl.edu 37 8 30705207 30705207 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 30705207 30705207 C A SNP TEX15 ENST00000256246 human ensembl 70_37 -1 known nonsense c.1327 p.E443* 0.002 NULL NULL - no_errors TEX15 HGNC TEX2 55852 genome.wustl.edu 37 17 62290817 62290817 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 62290817 62290817 C T SNP TEX2 ENST00000258991 human ensembl 70_37 -1 known missense c.761 p.R254Q 1.000 NULL pfam_DUF2404 - no_errors TEX2 HGNC TEX35 84066 genome.wustl.edu 37 1 178485789 178485789 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 178485789 178485789 G A SNP TEX35 ENST00000319416 human ensembl 70_37 +1 known missense c.256 p.E86K 0.998 NULL NULL - no_errors TEX35 HGNC TFCP2 7024 genome.wustl.edu 37 12 51512478 51512478 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 51512478 51512478 A C SNP TFCP2 ENST00000257915 human ensembl 70_37 -1 known missense c.200 p.F67C 1.000 pfam_CP2 pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2 HGNC TFDP1 7027 genome.wustl.edu 37 13 114290892 114290892 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 114290892 114290892 G T SNP TFDP1 ENST00000375370 human ensembl 70_37 +1 known missense c.883 p.D295Y 1.000 pfam_Transc_factor_DP_C,pirsf_Transcription_factor_DP_subgr pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr - no_errors TFDP1 HGNC TFDP1 7027 genome.wustl.edu 37 13 114292057 114292057 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 114292057 114292057 T C SNP TFDP1 ENST00000544902 human ensembl 70_37 +1 known missense c.844 p.S282P 0.000 pirsf_Transcription_factor_DP_subgr pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcription_factor_DP_subgr - no_errors TFDP1 HGNC TFDP1 7027 genome.wustl.edu 37 13 114294630 114294630 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 114294630 114294630 G T SNP TFDP1 ENST00000494812 human ensembl 70_37 +1 known rna NULL NULL 0.176 - - - no_errors TFDP1 HGNC TFEC 22797 genome.wustl.edu 37 7 115580805 115580805 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 115580805 115580805 A G SNP TFEC ENST00000265440 human ensembl 70_37 -1 known missense c.844 p.F282L 1.000 pfam_bHLH_ZIP_TF_MiT/TFE pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TFEC HGNC TGFBI 7045 genome.wustl.edu 37 5 135390546 135390546 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 135390546 135390546 G A SNP TGFBI ENST00000305126 human ensembl 70_37 +1 known missense c.1406 p.R469H 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC TGIF2LX 90316 genome.wustl.edu 37 X 89177609 89177609 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 89177609 89177609 G A SNP TGIF2LX ENST00000283891 human ensembl 70_37 +1 known silent c.525 p.P175 0.002 NULL pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors TGIF2LX HGNC TGM4 7047 genome.wustl.edu 37 3 44952543 44952543 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 44952543 44952543 C T SNP TGM4 ENST00000296125 human ensembl 70_37 +1 known missense c.1700 p.A567V 0.023 superfamily_Transglutaminase_C pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM4 HGNC TGM7 116179 genome.wustl.edu 37 15 43584214 43584214 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 43584214 43584214 T C SNP TGM7 ENST00000452443 human ensembl 70_37 -1 known missense c.521 p.E174G 0.001 NULL pfam_Transglutaminase_N,pfam_Transglutaminase_C,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM7 HGNC THADA 63892 genome.wustl.edu 37 2 43800129 43800129 + Missense_Mutation SNP G G C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 43800129 43800129 G C SNP THADA ENST00000405006 human ensembl 70_37 -1 known missense c.1732 p.Q578E 0.001 superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC THAP7-AS1 439931 genome.wustl.edu 37 22 21357492 21357492 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 21357492 21357492 G T SNP THAP7-AS1 ENST00000429962 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors THAP7-AS1 HGNC THAP9 79725 genome.wustl.edu 37 4 83838284 83838284 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 83838284 83838284 C T SNP THAP9 ENST00000302236 human ensembl 70_37 +1 known missense c.919 p.L307F 0.866 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP9 HGNC THEG 51298 genome.wustl.edu 37 19 375903 375903 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 375903 375903 C A SNP THEG ENST00000342640 human ensembl 70_37 -1 known missense c.68 p.R23M 0.000 NULL smart_THEG - no_errors THEG HGNC THG1L 54974 genome.wustl.edu 37 5 157162884 157162884 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 157162884 157162884 T C SNP THG1L ENST00000231198 human ensembl 70_37 +1 known missense c.569 p.F190S 1.000 pfam_tRNAHis_GuaTrfase_cat,pirsf_tRNAHis_GuaTrfase_Thg1 pfam_tRNAHis_GuaTrfase_cat,superfamily_Restrct_endonuc-II-like,pirsf_tRNAHis_GuaTrfase_Thg1 - no_errors THG1L HGNC THOC2 57187 genome.wustl.edu 37 X 122754210 122754210 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 122754210 122754210 G T SNP THOC2 ENST00000464992 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors THOC2 HGNC THOC3 84321 genome.wustl.edu 37 5 175392151 175392151 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 175392151 175392151 G A SNP THOC3 ENST00000513006 human ensembl 70_37 -1 known missense c.275 p.T92I 1.000 pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors THOC3 HGNC THSD7A 221981 genome.wustl.edu 37 7 11450835 11450835 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 11450835 11450835 G A SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known missense c.3797 p.A1266V 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC TIAM1 7074 genome.wustl.edu 37 21 32537277 32537277 + Splice_Site SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 32537277 32537277 A C SNP TIAM1 ENST00000286827 human ensembl 70_37 -1 known splice_site c.2991+2 e13+2 1.000 - - - no_errors TIAM1 HGNC TIAM2 26230 genome.wustl.edu 37 6 155565812 155565812 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 155565812 155565812 T G SNP TIAM2 ENST00000456144 human ensembl 70_37 +1 known missense c.3438 p.S1146R 0.968 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC TIMELESS 8914 genome.wustl.edu 37 12 56815544 56815544 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 56815544 56815544 G A SNP TIMELESS ENST00000553532 human ensembl 70_37 -1 known nonsense c.2692 p.Q898* 1.000 pfam_TIMELESS_C pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC TJP2 9414 genome.wustl.edu 37 9 71867734 71867734 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 71867734 71867734 G A SNP TJP2 ENST00000539225 human ensembl 70_37 +1 known missense c.3418 p.E1140K 1.000 NULL pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC TJP3 27134 genome.wustl.edu 37 19 3747907 3747907 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 3747907 3747907 G A SNP TJP3 ENST00000262968 human ensembl 70_37 +1 known missense c.2537 p.G846D 1.000 NULL pfam_PDZ,pfam_SH3_2,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC TLL1 7092 genome.wustl.edu 37 4 167021905 167021905 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 167021905 167021905 G T SNP TLL1 ENST00000061240 human ensembl 70_37 +1 known missense c.2919 p.E973D 0.935 pfam_CUB,superfamily_CUB,smart_CUB,pirsf_BMP_1/tolloid-like,pfscan_CUB pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A - no_errors TLL1 HGNC TLN1 7094 genome.wustl.edu 37 9 35699324 35699324 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 35699324 35699324 A C SNP TLN1 ENST00000489255 human ensembl 70_37 -1 known rna NULL NULL 0.148 - - - no_errors TLN1 HGNC TLR10 81793 genome.wustl.edu 37 4 38775990 38775990 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 38775990 38775990 G T SNP TLR10 ENST00000308973 human ensembl 70_37 -1 known missense c.1222 p.L408I 0.064 pirsf_Toll-like_receptor pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom - no_errors TLR10 HGNC TLR2 7097 genome.wustl.edu 37 4 154625158 154625158 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 154625158 154625158 C A SNP TLR2 ENST00000260010 human ensembl 70_37 +1 known missense c.1099 p.L367I 1.000 smart_Leu-rich_rpt_typical-subtyp,pirsf_Toll-like_receptor pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pirsf_Toll-like_receptor,pfscan_TIR_dom,prints_IL1_rcpt_1 - no_errors TLR2 HGNC TLR4 7099 genome.wustl.edu 37 9 120476131 120476131 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 120476131 120476131 T C SNP TLR4 ENST00000355622 human ensembl 70_37 +1 known silent c.1725 p.N575 0.999 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC TLR8 51311 genome.wustl.edu 37 X 12937616 12937616 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 12937616 12937616 C A SNP TLR8 ENST00000218032 human ensembl 70_37 +1 known missense c.457 p.L153I 0.606 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC TLR8 51311 genome.wustl.edu 37 X 12939888 12939888 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 12939888 12939888 A C SNP TLR8 ENST00000218032 human ensembl 70_37 +1 known missense c.2729 p.D910A 0.577 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC TM7SF3 51768 genome.wustl.edu 37 12 27127096 27127096 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 27127096 27127096 T G SNP TM7SF3 ENST00000343028 human ensembl 70_37 -1 known missense c.1515 p.R505S 1.000 NULL NULL - no_errors TM7SF3 HGNC TMC4 147798 genome.wustl.edu 37 19 54667392 54667392 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 54667392 54667392 C T SNP TMC4 ENST00000416963 human ensembl 70_37 -1 known missense c.34 p.A12T 0.000 NULL pfam_TMC - no_errors TMC4 HGNC TMC7 79905 genome.wustl.edu 37 16 19049365 19049365 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 19049365 19049365 A C SNP TMC7 ENST00000304381 human ensembl 70_37 +1 known missense c.1175 p.K392T 0.988 NULL pfam_TMC - no_errors TMC7 HGNC TMCC3 57458 genome.wustl.edu 37 12 94965289 94965289 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 94965289 94965289 G A SNP TMCC3 ENST00000261226 human ensembl 70_37 -1 known silent c.1356 p.A452 0.665 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC3 HGNC TANGO6 79613 genome.wustl.edu 37 16 68953050 68953050 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 68953050 68953050 G T SNP TMCO7 ENST00000261778 human ensembl 70_37 +1 known missense c.2055 p.E685D 0.908 superfamily_ARM-type_fold pfam_DUF2411,superfamily_ARM-type_fold - no_errors TMCO7 HGNC TMEM126A 84233 genome.wustl.edu 37 11 85361308 85361308 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 85361308 85361308 T G SNP TMEM126A ENST00000304511 human ensembl 70_37 +1 known missense c.9 p.N3K 1.000 NULL pfam_DUF1370_TMEM126 - no_errors TMEM126A HGNC TMEM132D 121256 genome.wustl.edu 37 12 129558758 129558758 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 129558758 129558758 T G SNP TMEM132D ENST00000422113 human ensembl 70_37 -1 known missense c.2962 p.I988L 0.227 NULL NULL - no_errors TMEM132D HGNC TMEM145 284339 genome.wustl.edu 37 19 42818970 42818970 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 42818970 42818970 C T SNP TMEM145 ENST00000301204 human ensembl 70_37 +1 known silent c.387 p.Y129 1.000 NULL pfam_Rhodopsin-like_GPCR_TM_domain - no_errors TMEM145 HGNC TMEM147 10430 genome.wustl.edu 37 19 36037436 36037436 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 36037436 36037436 C A SNP TMEM147 ENST00000222284 human ensembl 70_37 +1 known missense c.156 p.F52L 1.000 pfam_DUF2053_membrane pfam_DUF2053_membrane - no_errors TMEM147 HGNC TMEM151B 441151 genome.wustl.edu 37 6 44243269 44243269 + Nonsense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 44243269 44243269 A T SNP TMEM151B ENST00000451188 human ensembl 70_37 +1 known nonsense c.706 p.K236* 1.000 NULL NULL - no_errors TMEM151B HGNC TMEM175 84286 genome.wustl.edu 37 4 946159 946159 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 946159 946159 C T SNP TMEM175 ENST00000264771 human ensembl 70_37 +1 known missense c.383 p.S128L 1.000 NULL pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC TMEM184C 55751 genome.wustl.edu 37 4 148554065 148554065 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 148554065 148554065 T G SNP TMEM184C ENST00000296582 human ensembl 70_37 +1 known missense c.791 p.V264G 1.000 pfam_Ost-alpha pfam_Ost-alpha - no_errors TMEM184C HGNC TMEM232 642987 genome.wustl.edu 37 5 109760531 109760531 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 109760531 109760531 T G SNP TMEM232 ENST00000455884 human ensembl 70_37 -1 novel missense c.1790 p.D597A 0.997 NULL NULL - no_errors TMEM232 HGNC TMEM237 65062 genome.wustl.edu 37 2 202492840 202492840 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 202492840 202492840 C T SNP TMEM237 ENST00000409883 human ensembl 70_37 -1 known missense c.902 p.R301Q 1.000 NULL NULL - no_errors TMEM237 HGNC TMEM252 169693 genome.wustl.edu 37 9 71155719 71155719 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 71155719 71155719 T G SNP TMEM252 ENST00000377311 human ensembl 70_37 -1 known missense c.12 p.R4S 0.000 NULL NULL - no_errors TMEM252 HGNC TMEM39B 55116 genome.wustl.edu 37 1 32568452 32568452 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 32568452 32568452 T G SNP TMEM39B ENST00000468135 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TMEM39B HGNC NDC1 55706 genome.wustl.edu 37 1 54273423 54273423 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 54273423 54273423 T G SNP TMEM48 ENST00000371429 human ensembl 70_37 -1 known missense c.797 p.N266T 0.956 pfam_Nucleoporin_prot_Ndc1/Nup pfam_Nucleoporin_prot_Ndc1/Nup - no_errors TMEM48 HGNC TMEM50A 23585 genome.wustl.edu 37 1 25669500 25669500 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 25669500 25669500 A C SNP TMEM50A ENST00000374358 human ensembl 70_37 +1 known missense c.142 p.T48P 0.000 pfam_UPF0220 pfam_UPF0220 - no_errors TMEM50A HGNC TMEM55A 55529 genome.wustl.edu 37 8 92008002 92008002 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 92008002 92008002 G T SNP TMEM55A ENST00000285419 human ensembl 70_37 -1 known missense c.677 p.S226Y 1.000 pfam_Transmembrane_protein_55A/B pfam_Transmembrane_protein_55A/B - no_errors TMEM55A HGNC TMEM59 9528 genome.wustl.edu 37 1 54497852 54497852 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 54497852 54497852 T G SNP TMEM59 ENST00000234831 human ensembl 70_37 -1 known missense c.943 p.K315Q 1.000 NULL pfam_Uncharacterised_TMEM59,superfamily_Prot_inh_Kunz-m - no_errors TMEM59 HGNC TMEM63C 57156 genome.wustl.edu 37 14 77715708 77715708 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 77715708 77715708 A G SNP TMEM63C ENST00000298351 human ensembl 70_37 +1 known missense c.1945 p.N649D 1.000 pfam_DUF221 pfam_DUF221 - no_errors TMEM63C HGNC TMEM98 26022 genome.wustl.edu 37 17 31260256 31260256 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 31260256 31260256 G A SNP TMEM98 ENST00000394642 human ensembl 70_37 +1 known missense c.196 p.D66N 1.000 NULL NULL - no_errors TMEM98 HGNC TMF1 7110 genome.wustl.edu 37 3 69093647 69093647 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 69093647 69093647 T G SNP TMF1 ENST00000543976 human ensembl 70_37 -1 known missense c.1456 p.K486Q 1.000 NULL pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC TMPO 7112 genome.wustl.edu 37 12 98938791 98938791 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 98938791 98938791 C A SNP TMPO ENST00000556029 human ensembl 70_37 +1 known missense c.942 p.F314L 1.000 NULL pfam_Thymopoietin_LEM,pfam_LEM,superfamily_LEM-like_dom,smart_LEM,pfscan_LEM,pfscan_Thymopoietin_LEM - no_errors TMPO HGNC TMPRSS11A 339967 genome.wustl.edu 37 4 68777060 68777060 + Nonstop_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 68777060 68777060 T G SNP TMPRSS11A ENST00000334830 human ensembl 70_37 -1 known nonstop c.1266 p.*422Y 0.860 NULL pfam_Peptidase_S1_S6,pfam_SEA,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS11A HGNC TMTC2 160335 genome.wustl.edu 37 12 83526008 83526008 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 83526008 83526008 A C SNP TMTC2 ENST00000321196 human ensembl 70_37 +1 known missense c.2351 p.N784T 1.000 pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC TMTC3 160418 genome.wustl.edu 37 12 88589382 88589382 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 88589382 88589382 T G SNP TMTC3 ENST00000266712 human ensembl 70_37 +1 known missense c.2701 p.L901V 1.000 NULL pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC3 HGNC TNC 3371 genome.wustl.edu 37 9 117791732 117791732 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 117791732 117791732 A G SNP TNC ENST00000350763 human ensembl 70_37 -1 known missense c.6076 p.F2026L 1.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC TNC 3371 genome.wustl.edu 37 9 117815268 117815268 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 117815268 117815268 T G SNP TNC ENST00000542877 human ensembl 70_37 -1 novel missense c.3514 p.I1172L 0.985 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC TNFRSF10B 8795 genome.wustl.edu 37 8 22884718 22884718 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 22884718 22884718 T G SNP TNFRSF10B ENST00000276431 human ensembl 70_37 -1 known missense c.864 p.E288D 0.000 pirsf_TNFR_10 pfam_Death,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pirsf_TNFR_10,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_10 - no_errors TNFRSF10B HGNC TNFRSF1A 7132 genome.wustl.edu 37 12 6442300 6442300 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 6442300 6442300 C A SNP TNFRSF1A ENST00000162749 human ensembl 70_37 -1 known missense c.486 p.Q162H 0.902 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1A - no_errors TNFRSF1A HGNC TNFRSF1A 7132 genome.wustl.edu 37 12 6442301 6442301 + Nonsense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 6442301 6442301 T A SNP TNFRSF1A ENST00000534885 human ensembl 70_37 -1 known nonsense c.331 p.R111* 0.871 NULL NULL - no_errors TNFRSF1A HGNC TNFRSF1B 7133 genome.wustl.edu 37 1 12267024 12267024 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 12267024 12267024 G A SNP TNFRSF1B ENST00000376259 human ensembl 70_37 +1 known missense c.1333 p.E445K 0.008 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B - no_errors TNFRSF1B HGNC TNFSF11 8600 genome.wustl.edu 37 13 43181040 43181040 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 43181040 43181040 C T SNP TNFSF11 ENST00000239849 human ensembl 70_37 +1 known nonsense c.940 p.R314* 0.725 superfamily_Tumour_necrosis_fac-like,pirsf_TNF_ligand_10/11 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_10/11,pfscan_TNF - no_errors TNFSF11 HGNC TNIK 23043 genome.wustl.edu 37 3 170802051 170802051 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 170802051 170802051 G A SNP TNIK ENST00000436636 human ensembl 70_37 -1 known missense c.3062 p.S1021L 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC TNN 63923 genome.wustl.edu 37 1 175046842 175046842 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 175046842 175046842 G A SNP TNN ENST00000239462 human ensembl 70_37 +1 known silent c.288 p.Q96 0.989 NULL pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3 - no_errors TNN HGNC TNN 63923 genome.wustl.edu 37 1 175063328 175063328 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 175063328 175063328 C A SNP TNN ENST00000239462 human ensembl 70_37 +1 known silent c.1527 p.V509 0.977 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_Fibronectin_type3 - no_errors TNN HGNC TNS1 7145 genome.wustl.edu 37 2 218724392 218724392 + Missense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 218724392 218724392 T A SNP TNS1 ENST00000310858 human ensembl 70_37 -1 putative missense c.1180 p.I394F 0.000 NULL pfam_Tensin_phosphatase_C2-dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC TNS3 64759 genome.wustl.edu 37 7 47323307 47323307 + Missense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 47323307 47323307 T A SNP TNS3 ENST00000311160 human ensembl 70_37 -1 known missense c.4085 p.D1362V 1.000 pfam_PTB,smart_PTyr_interaction_dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC TNS3 64759 genome.wustl.edu 37 7 47385795 47385795 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 47385795 47385795 T C SNP TNS3 ENST00000311160 human ensembl 70_37 -1 known missense c.2441 p.D814G 0.081 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC TNXB 7148 genome.wustl.edu 37 6 32061140 32061140 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 32061140 32061140 A C SNP TNXB ENST00000479795 human ensembl 70_37 -1 putative missense c.2452 p.F818V 0.004 NULL pfam_EGF_extracell,smart_EG-like_dom,pfscan_EG-like_dom - no_errors TNXB HGNC TOPAZ1 375337 genome.wustl.edu 37 3 44285783 44285783 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 44285783 44285783 G T SNP TOPAZ1 ENST00000309765 human ensembl 70_37 +1 known missense c.1785 p.K595N 0.089 NULL NULL - no_errors TOPAZ1 HGNC TP53BP1 7158 genome.wustl.edu 37 15 43705389 43705389 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 43705389 43705389 T C SNP TP53BP1 ENST00000382044 human ensembl 70_37 -1 known missense c.5233 p.T1745A 0.963 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC TPH1 7166 genome.wustl.edu 37 11 18057643 18057643 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 18057643 18057643 C A SNP TPH1 ENST00000341556 human ensembl 70_37 -1 known missense c.164 p.R55I 1.000 pfam_ACT_dom,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH1 HGNC TPM2 7169 genome.wustl.edu 37 9 35685532 35685532 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 35685532 35685532 C T SNP TPM2 ENST00000378300 human ensembl 70_37 -1 known missense c.391 p.E131K 1.000 pfam_Tropomyosin,prints_Tropomyosin pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM2 HGNC TPTE 7179 genome.wustl.edu 37 21 10906875 10906875 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 10906875 10906875 C A SNP TPTE ENST00000415664 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TPTE HGNC TPTE2P6 374491 genome.wustl.edu 37 13 25160920 25160920 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 25160920 25160920 A C SNP TPTE2P6 ENST00000440905 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors TPTE2P6 HGNC TRAF3IP3 80342 genome.wustl.edu 37 1 209949292 209949292 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 209949292 209949292 G T SNP TRAF3IP3 ENST00000488702 human ensembl 70_37 +1 known rna NULL NULL 0.021 - - - no_errors TRAF3IP3 HGNC TRAK2 66008 genome.wustl.edu 37 2 202284117 202284117 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 202284117 202284117 A C SNP TRAK2 ENST00000451703 human ensembl 70_37 -1 putative rna NULL NULL 0.103 - - - no_errors TRAK2 HGNC TRAM1L1 133022 genome.wustl.edu 37 4 118005916 118005916 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 118005916 118005916 G T SNP TRAM1L1 ENST00000310754 human ensembl 70_37 -1 known missense c.634 p.L212I 0.049 pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1L1 HGNC TRAPPC12 51112 genome.wustl.edu 37 2 3428348 3428348 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 3428348 3428348 C T SNP TRAPPC12 ENST00000324266 human ensembl 70_37 +1 known missense c.1331 p.A444V 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TRAPPC12 HGNC TRAPPC3 27095 genome.wustl.edu 37 1 36605230 36605230 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 36605230 36605230 T G SNP TRAPPC3 ENST00000497251 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors TRAPPC3 HGNC TRAPPC8 22878 genome.wustl.edu 37 18 29429636 29429636 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 29429636 29429636 G T SNP TRAPPC8 ENST00000283351 human ensembl 70_37 -1 known missense c.3628 p.P1210T 0.025 NULL NULL - no_errors TRAPPC8 HGNC TRIM39 56658 genome.wustl.edu 37 6 30309562 30309562 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 30309562 30309562 C T SNP TRIM39 ENST00000376656 human ensembl 70_37 +1 known silent c.1083 p.F361 0.777 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM39 HGNC TRIM40 135644 genome.wustl.edu 37 6 30105115 30105115 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 30105115 30105115 C A SNP TRIM40 ENST00000376724 human ensembl 70_37 +1 known missense c.302 p.S101Y 0.009 pfscan_Znf_B-box pfam_Znf_C3HC4_RING-type,superfamily_tRNA-bd_arm,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM40 HGNC TRIM41 90933 genome.wustl.edu 37 5 180660643 180660643 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 180660643 180660643 G A SNP TRIM41 ENST00000315073 human ensembl 70_37 +1 known missense c.1171 p.E391K 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 TRIM58 25893 genome.wustl.edu 37 1 248039699 248039699 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 248039699 248039699 A T SNP TRIM58 ENST00000366481 human ensembl 70_37 +1 known missense c.1369 p.I457F 0.000 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,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 TRIM58 HGNC TRIM67 440730 genome.wustl.edu 37 1 231344807 231344807 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 231344807 231344807 C T SNP TRIM67 ENST00000366652 human ensembl 70_37 +1 known missense c.1934 p.A645V 0.998 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC TRIM69 140691 genome.wustl.edu 37 15 45051031 45051031 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 45051031 45051031 G T SNP TRIM69 ENST00000329464 human ensembl 70_37 +1 known missense c.792 p.Q264H 0.979 NULL pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM69 HGNC TRIM7 81786 genome.wustl.edu 37 5 180622600 180622600 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 180622600 180622600 C T SNP TRIM7 ENST00000274773 human ensembl 70_37 -1 known missense c.1102 p.E368K 0.820 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,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,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC TRIP11 9321 genome.wustl.edu 37 14 92471878 92471878 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 92471878 92471878 T G SNP TRIP11 ENST00000267622 human ensembl 70_37 -1 known missense c.2442 p.E814D 0.150 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC TRMT2B 79979 genome.wustl.edu 37 X 100276201 100276201 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 100276201 100276201 C A SNP TRMT2B ENST00000372935 human ensembl 70_37 -1 known missense c.955 p.D319Y 0.973 pfam_U5_MeTrfase pfam_U5_MeTrfase,pfam_Small_mtfrase_dom - no_errors TRMT2B HGNC TRMT2B 79979 genome.wustl.edu 37 X 100297126 100297126 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 100297126 100297126 A C SNP TRMT2B ENST00000372935 human ensembl 70_37 -1 known missense c.153 p.D51E 0.228 NULL pfam_U5_MeTrfase,pfam_Small_mtfrase_dom - no_errors TRMT2B HGNC TRO 7216 genome.wustl.edu 37 X 54950191 54950191 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 54950191 54950191 G T SNP TRO ENST00000173898 human ensembl 70_37 +1 known missense c.1226 p.R409I 0.996 NULL pfam_MAGE,pfscan_MAGE - no_errors TRO HGNC TROVE2 6738 genome.wustl.edu 37 1 193054185 193054185 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 193054185 193054185 T C SNP TROVE2 ENST00000460715 human ensembl 70_37 +1 known rna NULL NULL 0.046 - - - no_errors TROVE2 HGNC TRPC1 7220 genome.wustl.edu 37 3 142522890 142522890 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 142522890 142522890 G T SNP TRPC1 ENST00000476941 human ensembl 70_37 +1 known missense c.1829 p.R610I 0.721 pfam_Ion_trans_dom,prints_TRPC1_channel,tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC TRPC6 7225 genome.wustl.edu 37 11 101323781 101323781 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 101323781 101323781 C A SNP TRPC6 ENST00000344327 human ensembl 70_37 -1 known nonsense c.2701 p.E901* 1.000 NULL pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC TRPC6 7225 genome.wustl.edu 37 11 101342954 101342954 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 101342954 101342954 G T SNP TRPC6 ENST00000344327 human ensembl 70_37 -1 known missense c.2119 p.L707I 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC TRPM1 4308 genome.wustl.edu 37 15 31332543 31332543 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 31332543 31332543 G A SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known silent c.2145 p.F715 0.998 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC TRPM2 7226 genome.wustl.edu 37 21 45798886 45798886 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 45798886 45798886 G T SNP TRPM2 ENST00000300482 human ensembl 70_37 +1 known missense c.1021 p.D341Y 1.000 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC TRPM3 80036 genome.wustl.edu 37 9 73461494 73461494 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 73461494 73461494 G T SNP TRPM3 ENST00000423814 human ensembl 70_37 -1 known missense c.482 p.S161Y 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC TRPM8 79054 genome.wustl.edu 37 2 234869596 234869596 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 234869596 234869596 G A SNP TRPM8 ENST00000324695 human ensembl 70_37 +1 known silent c.1539 p.K513 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC TRPV2 51393 genome.wustl.edu 37 17 16336993 16336993 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 16336993 16336993 G A SNP TRPV2 ENST00000338560 human ensembl 70_37 +1 known missense c.2095 p.D699N 1.000 prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC TSEN15 116461 genome.wustl.edu 37 1 184023932 184023932 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 184023932 184023932 G T SNP TSEN15 ENST00000361641 human ensembl 70_37 +1 known missense c.288 p.E96D 0.998 pfam_tRNA-endonuc_su_Sen15 pfam_tRNA-endonuc_su_Sen15 - no_errors TSEN15 HGNC TSFM 10102 genome.wustl.edu 37 12 58179958 58179958 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 58179958 58179958 C T SNP TSFM ENST00000323833 human ensembl 70_37 +1 known missense c.244 p.L82F 1.000 NULL pfam_Transl_elong_EFTs/EF1B_dimer,pfam_UBA/transl_elong_EF1B_N - no_errors TSFM HGNC TSHZ2 128553 genome.wustl.edu 37 20 51871025 51871025 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 51871025 51871025 C A SNP TSHZ2 ENST00000371497 human ensembl 70_37 +1 known missense c.1028 p.S343Y 0.449 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC TSPAN13 27075 genome.wustl.edu 37 7 16816705 16816705 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 16816705 16816705 T G SNP TSPAN13 ENST00000262067 human ensembl 70_37 +1 known missense c.270 p.F90L 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN13 HGNC TSPAN19 144448 genome.wustl.edu 37 12 85411359 85411359 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 85411359 85411359 T C SNP TSPAN19 ENST00000532498 human ensembl 70_37 -1 known missense c.470 p.H157R 0.028 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN19 HGNC TSPYL4 23270 genome.wustl.edu 37 6 116574447 116574447 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 116574447 116574447 C T SNP TSPYL4 ENST00000420283 human ensembl 70_37 -1 known missense c.725 p.R242H 0.998 pfam_NAP_family pfam_NAP_family - no_errors TSPYL4 HGNC TTBK2 146057 genome.wustl.edu 37 15 43069311 43069311 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 43069311 43069311 A C SNP TTBK2 ENST00000267890 human ensembl 70_37 -1 known missense c.1327 p.L443V 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK2 HGNC TTC21A 199223 genome.wustl.edu 37 3 39159650 39159650 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 39159650 39159650 T C SNP TTC21A ENST00000301819 human ensembl 70_37 +1 known silent c.807 p.S269 0.935 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC TTC21A 199223 genome.wustl.edu 37 3 39159652 39159652 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 39159652 39159652 C A SNP TTC21A ENST00000301819 human ensembl 70_37 +1 known missense c.809 p.S270Y 0.077 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC TTC21A 199223 genome.wustl.edu 37 3 39161495 39161495 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 39161495 39161495 T G SNP TTC21A ENST00000301819 human ensembl 70_37 +1 known missense c.908 p.I303S 0.001 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC TTC28 23331 genome.wustl.edu 37 22 28426232 28426232 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 28426232 28426232 C T SNP TTC28 ENST00000397906 human ensembl 70_37 -1 novel missense c.4055 p.R1352H 1.000 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC TTC3 7267 genome.wustl.edu 37 21 38512877 38512877 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 38512877 38512877 A G SNP TTC3 ENST00000354749 human ensembl 70_37 +1 known missense c.1676 p.E559G 1.000 pfscan_TPR-contain_dom pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC TTF2 8458 genome.wustl.edu 37 1 117620614 117620614 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 117620614 117620614 T C SNP TTF2 ENST00000369466 human ensembl 70_37 +1 known silent c.1650 p.L550 0.980 NULL pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC TTF2 8458 genome.wustl.edu 37 1 117624635 117624635 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 117624635 117624635 T C SNP TTF2 ENST00000464062 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TTF2 HGNC TTK 7272 genome.wustl.edu 37 6 80749469 80749469 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 80749469 80749469 C T SNP TTK ENST00000369798 human ensembl 70_37 +1 known silent c.2187 p.Y729 0.968 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTK HGNC TTLL2 83887 genome.wustl.edu 37 6 167754124 167754124 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 167754124 167754124 C A SNP TTLL2 ENST00000239587 human ensembl 70_37 +1 known missense c.736 p.P246T 0.992 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_errors TTLL2 HGNC TTN 7273 genome.wustl.edu 37 2 179391859 179391859 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179391859 179391859 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.100152 p.D33384 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179396051 179396051 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179396051 179396051 T C SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.97587 p.E32529 0.413 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179411050 179411050 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179411050 179411050 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known nonsense c.87304 p.R29102* 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179439245 179439245 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179439245 179439245 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.63910 p.L21304I 0.999 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179454957 179454957 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179454957 179454957 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known nonsense c.53791 p.R17931* 0.782 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179462522 179462522 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179462522 179462522 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.49583 p.A16528D 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179477702 179477702 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179477702 179477702 C A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.42042 p.K14014N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179481337 179481337 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179481337 179481337 C A SNP TTN ENST00000342992 human ensembl 70_37 -1 known nonsense c.40477 p.E13493* 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179550275 179550275 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179550275 179550275 A C SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.28630 p.S9544A 0.885 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179560599 179560599 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179560599 179560599 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.27468 p.V9156 0.999 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179579122 179579122 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179579122 179579122 G T SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.22647 p.T7549 0.817 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179584978 179584978 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179584978 179584978 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.19659 p.F6553 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179586756 179586756 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179586756 179586756 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.18902 p.R6301Q 0.840 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179594406 179594406 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179594406 179594406 C A SNP TTN ENST00000342992 human ensembl 70_37 -1 known nonsense c.14842 p.E4948* 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179595343 179595343 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179595343 179595343 T C SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.14185 p.T4729A 0.998 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179595731 179595731 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179595731 179595731 C A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.13929 p.K4643N 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179599566 179599566 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179599566 179599566 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known nonsense c.11353 p.R3785* 0.687 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179606229 179606229 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179606229 179606229 A C SNP TTN ENST00000342175 human ensembl 70_37 -1 known missense c.11218 p.S3740A 0.006 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179612456 179612456 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179612456 179612456 C T SNP TTN ENST00000360870 human ensembl 70_37 -1 known missense c.14671 p.D4891N 0.033 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC TTN-AS1 100506866 genome.wustl.edu 37 2 179407701 179407701 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 179407701 179407701 A G SNP TTN-AS1 ENST00000590040 human ensembl 70_37 +1 known rna NULL NULL 0.015 - - - no_errors TTN-AS1 HGNC TUBA3FP 113691 genome.wustl.edu 37 22 21362975 21362975 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 21362975 21362975 T C SNP TUBA3FP ENST00000292748 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TUBA3FP HGNC TUBBP5 643224 genome.wustl.edu 37 9 141070325 141070325 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 141070325 141070325 C T SNP TUBBP5 ENST00000503395 human ensembl 70_37 +1 known rna NULL NULL 0.246 - - - no_errors TUBBP5 HGNC TUBGCP5 114791 genome.wustl.edu 37 15 22848316 22848316 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 22848316 22848316 A C SNP TUBGCP5 ENST00000283645 human ensembl 70_37 +1 known silent c.906 p.V302 1.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98 - no_errors TUBGCP5 HGNC TULP4 56995 genome.wustl.edu 37 6 158910645 158910645 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 158910645 158910645 T G SNP TULP4 ENST00000367097 human ensembl 70_37 +1 known missense c.1512 p.I504M 1.000 NULL pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC TUT1 64852 genome.wustl.edu 37 11 62343112 62343112 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 62343112 62343112 A C SNP TUT1 ENST00000308436 human ensembl 70_37 -1 known silent c.2193 p.V731 0.000 NULL pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC TXNDC11 51061 genome.wustl.edu 37 16 11824515 11824515 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 11824515 11824515 G T SNP TXNDC11 ENST00000356957 human ensembl 70_37 -1 known missense c.685 p.L229I 1.000 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC TXNIP 10628 genome.wustl.edu 37 1 145442122 145442122 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 145442122 145442122 T G SNP TXNIP ENST00000475171 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TXNIP HGNC TXNIP 10628 genome.wustl.edu 37 1 145442568 145442568 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 145442568 145442568 A G SNP TXNIP ENST00000475171 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TXNIP HGNC TYW1 55253 genome.wustl.edu 37 7 66532313 66532313 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 66532313 66532313 C A SNP TYW1 ENST00000359626 human ensembl 70_37 +1 known missense c.1197 p.F399L 1.000 NULL pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1 HGNC TYW3 127253 genome.wustl.edu 37 1 75202091 75202091 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 75202091 75202091 G A SNP TYW3 ENST00000483990 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TYW3 HGNC UBAP2L 9898 genome.wustl.edu 37 1 154221753 154221753 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 154221753 154221753 A C SNP UBAP2L ENST00000361546 human ensembl 70_37 +1 known missense c.1053 p.E351D 0.988 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC UBASH3B 84959 genome.wustl.edu 37 11 122678796 122678796 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 122678796 122678796 C T SNP UBASH3B ENST00000284273 human ensembl 70_37 +1 known missense c.1724 p.A575V 1.000 pfam_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,pfam_SH3_domain,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_SH3_domain,superfamily_RNA_ligase/cNuc_Pdiesterase,smart_UBA/transl_elong_EF1B_N_euk,smart_SH3_domain,pfscan_SH3_domain,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBASH3B HGNC UBE2I 7329 genome.wustl.edu 37 16 1374764 1374764 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 1374764 1374764 A G SNP UBE2I ENST00000325437 human ensembl 70_37 +1 known silent c.447 p.R149 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2I HGNC UBE2Q1 55585 genome.wustl.edu 37 1 154524250 154524250 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 154524250 154524250 T C SNP UBE2Q1 ENST00000292211 human ensembl 70_37 -1 known silent c.1071 p.K357 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q1 HGNC UBE2Q1 55585 genome.wustl.edu 37 1 154527963 154527963 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 154527963 154527963 A C SNP UBE2Q1 ENST00000292211 human ensembl 70_37 -1 known missense c.478 p.Y160D 1.000 NULL pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q1 HGNC UBXN4 23190 genome.wustl.edu 37 2 136528183 136528183 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 136528183 136528183 G T SNP UBXN4 ENST00000272638 human ensembl 70_37 +1 known nonsense c.700 p.E234* 1.000 NULL pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX - no_errors UBXN4 HGNC UCHL1 7345 genome.wustl.edu 37 4 41262670 41262670 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 41262670 41262670 A C SNP UCHL1 ENST00000284440 human ensembl 70_37 +1 known missense c.181 p.N61H 1.000 pfam_Peptidase_C12 pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors UCHL1 HGNC UCKL1 54963 genome.wustl.edu 37 20 62577388 62577388 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 62577388 62577388 G A SNP UCKL1 ENST00000492660 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors UCKL1 HGNC UFSP2 55325 genome.wustl.edu 37 4 186339923 186339923 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 186339923 186339923 T G SNP UFSP2 ENST00000264689 human ensembl 70_37 -1 known missense c.84 p.E28D 0.555 NULL pfam_Peptidase_C78_UfSP1/2 - no_errors UFSP2 HGNC UGGT2 55757 genome.wustl.edu 37 13 96508474 96508474 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 96508474 96508474 G T SNP UGGT2 ENST00000376747 human ensembl 70_37 -1 known missense c.3946 p.L1316I 1.000 pfam_Glyco_trans_8 pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC UGT1A9 54600 genome.wustl.edu 37 2 234581228 234581228 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 234581228 234581228 A G SNP UGT1A9 ENST00000354728 human ensembl 70_37 +1 known silent c.648 p.E216 0.002 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A9 HGNC UGT2B4 7363 genome.wustl.edu 37 4 70361486 70361486 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 70361486 70361486 C A SNP UGT2B4 ENST00000305107 human ensembl 70_37 -1 known nonsense c.94 p.E32* 0.057 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B4 HGNC UNC13C 440279 genome.wustl.edu 37 15 54838927 54838927 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 54838927 54838927 C T SNP UNC13C ENST00000260323 human ensembl 70_37 +1 known missense c.5704 p.L1902F 1.000 pfam_Munc13_subgr_dom-2 pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_Ca-dep,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC UNKL 64718 genome.wustl.edu 37 16 1455945 1455945 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 1455945 1455945 T G SNP UNKL ENST00000397462 human ensembl 70_37 -1 known missense c.510 p.E170D 0.004 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNKL HGNC UPF3B 65109 genome.wustl.edu 37 X 118975126 118975126 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 118975126 118975126 C A SNP UPF3B ENST00000276201 human ensembl 70_37 -1 known missense c.720 p.E240D 1.000 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC UPK1A 11045 genome.wustl.edu 37 19 36164350 36164350 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 36164350 36164350 A C SNP UPK1A ENST00000379013 human ensembl 70_37 +1 known missense c.371 p.N124T 0.987 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1A HGNC UQCRB 7381 genome.wustl.edu 37 8 97245436 97245436 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 97245436 97245436 C A SNP UQCRB ENST00000521036 human ensembl 70_37 -1 known missense c.39 p.W13C 1.000 pfam_Cyt-d_ubiquinol_oxidase_14kDa,superfamily_Cyt-d_ubiquinol_oxidase_14kDa pfam_Cyt-d_ubiquinol_oxidase_14kDa,superfamily_Cyt-d_ubiquinol_oxidase_14kDa - no_errors UQCRB HGNC URB2 9816 genome.wustl.edu 37 1 229771669 229771669 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 229771669 229771669 G A SNP URB2 ENST00000258243 human ensembl 70_37 +1 known missense c.1309 p.D437N 0.980 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC UROC1 131669 genome.wustl.edu 37 3 126217012 126217012 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 126217012 126217012 G T SNP UROC1 ENST00000290868 human ensembl 70_37 -1 known missense c.1320 p.D440E 1.000 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 216019310 216019310 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 216019310 216019310 C T SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.8911 p.D2971N 0.905 pfam_Fibronectin_type3,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 USH2A 7399 genome.wustl.edu 37 1 216246615 216246615 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 216246615 216246615 T G SNP USH2A ENST00000366943 human ensembl 70_37 -1 known missense c.5600 p.K1867T 0.993 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Laminin_G,pfscan_Laminin_G 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 USP10 9100 genome.wustl.edu 37 16 84793794 84793794 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 84793794 84793794 C T SNP USP10 ENST00000570191 human ensembl 70_37 +1 known silent c.1479 p.I493 0.043 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Ataxin-2_C,pfscan_Peptidase_C19 - no_errors USP10 HGNC USP12 219333 genome.wustl.edu 37 13 27649460 27649460 + Missense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 27649460 27649460 T A SNP USP12 ENST00000282344 human ensembl 70_37 -1 known missense c.800 p.Q267L 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP12 HGNC USP15 9958 genome.wustl.edu 37 12 62784715 62784715 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 62784715 62784715 T G SNP USP15 ENST00000280377 human ensembl 70_37 +1 known missense c.1916 p.I639S 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Pept_C19_DUSP,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,smart_Pept_C19_DUSP,pfscan_Peptidase_C19 - no_errors USP15 HGNC USP15 9958 genome.wustl.edu 37 12 62798351 62798351 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 62798351 62798351 T G SNP USP15 ENST00000552346 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors USP15 HGNC USP24 23358 genome.wustl.edu 37 1 55569602 55569602 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 55569602 55569602 C A SNP USP24 ENST00000294383 human ensembl 70_37 -1 known nonsense c.4972 p.E1658* 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 - no_errors USP24 HGNC USP24 23358 genome.wustl.edu 37 1 55624561 55624561 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 55624561 55624561 G T SNP USP24 ENST00000294383 human ensembl 70_37 -1 known missense c.1217 p.S406Y 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19 - no_errors USP24 HGNC USP25 29761 genome.wustl.edu 37 21 17246834 17246834 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 21 17246834 17246834 G T SNP USP25 ENST00000400183 human ensembl 70_37 +1 known nonsense c.2998 p.E1000* 1.000 NULL pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,superfamily_UBA-like,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19 - no_errors USP25 HGNC USP26 83844 genome.wustl.edu 37 X 132161383 132161383 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 132161383 132161383 A G SNP USP26 ENST00000370832 human ensembl 70_37 -1 known missense c.866 p.F289S 0.001 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP26 HGNC USP31 57478 genome.wustl.edu 37 16 23117742 23117742 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 23117742 23117742 C A SNP USP31 ENST00000219689 human ensembl 70_37 -1 known nonsense c.838 p.E280* 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP31 HGNC USP53 54532 genome.wustl.edu 37 4 120188514 120188514 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 120188514 120188514 C T SNP USP53 ENST00000274030 human ensembl 70_37 +1 known nonsense c.1012 p.R338* 0.947 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP53 HGNC USP8 9101 genome.wustl.edu 37 15 50788052 50788052 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 50788052 50788052 A C SNP USP8 ENST00000307179 human ensembl 70_37 +1 known missense c.2666 p.N889T 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19 - no_errors USP8 HGNC USP9X 8239 genome.wustl.edu 37 X 41055534 41055534 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 41055534 41055534 C A SNP USP9X ENST00000324545 human ensembl 70_37 +1 known missense c.4008 p.F1336L 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC UTP20 27340 genome.wustl.edu 37 12 101674919 101674919 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 101674919 101674919 G A SNP UTP20 ENST00000261637 human ensembl 70_37 +1 known missense c.71 p.G24E 0.998 NULL pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC UTP20 27340 genome.wustl.edu 37 12 101683923 101683924 + Frame_Shift_Ins INS - - A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 101683923 101683924 - A INS UTP20 ENST00000261637 human ensembl 70_37 +1 known frame_shift_ins c.606_607 p.N203fs 1.000:1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC UTRN 7402 genome.wustl.edu 37 6 144724303 144724303 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 144724303 144724303 A C SNP UTRN ENST00000367545 human ensembl 70_37 +1 known missense c.124 p.N42H 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,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 UTRN HGNC VAMP5 10791 genome.wustl.edu 37 2 85818882 85818882 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 85818882 85818882 C T SNP VAMP5 ENST00000306384 human ensembl 70_37 +1 known missense c.38 p.A13V 0.980 pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin pfam_Synaptobrevin,pirsf_Synaptobrevin_met/fun,pfscan_Synaptobrevin,prints_Synaptobrevin - no_errors VAMP5 HGNC VAV2 7410 genome.wustl.edu 37 9 136641167 136641167 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 136641167 136641167 G T SNP VAV2 ENST00000371850 human ensembl 70_37 -1 known missense c.2001 p.D667E 1.000 NULL pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC VCAN 1462 genome.wustl.edu 37 5 82815884 82815884 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 82815884 82815884 G T SNP VCAN ENST00000265077 human ensembl 70_37 +1 known nonsense c.1759 p.E587* 0.993 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC VCAN 1462 genome.wustl.edu 37 5 82834583 82834583 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 82834583 82834583 A C SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.5761 p.I1921L 0.001 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC VCAN 1462 genome.wustl.edu 37 5 82849188 82849188 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 82849188 82849188 G A SNP VCAN ENST00000265077 human ensembl 70_37 +1 known missense c.9499 p.E3167K 1.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors VCAN HGNC VCL 7414 genome.wustl.edu 37 10 75834615 75834615 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 75834615 75834615 G A SNP VCL ENST00000211998 human ensembl 70_37 +1 known missense c.737 p.R246H 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin - no_errors VCL HGNC VILL 50853 genome.wustl.edu 37 3 38045873 38045873 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 38045873 38045873 C A SNP VILL ENST00000283713 human ensembl 70_37 +1 known missense c.1933 p.L645M 1.000 pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin - no_errors VILL HGNC VIM 7431 genome.wustl.edu 37 10 17276863 17276863 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 17276863 17276863 C A SNP VIM ENST00000495528 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors VIM HGNC VIPR2 7434 genome.wustl.edu 37 7 158851185 158851185 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 158851185 158851185 G T SNP VIPR2 ENST00000262178 human ensembl 70_37 -1 known missense c.442 p.L148M 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_2,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt - no_errors VIPR2 HGNC VIT 5212 genome.wustl.edu 37 2 36982179 36982179 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 36982179 36982179 G T SNP VIT ENST00000379242 human ensembl 70_37 +1 known nonsense c.391 p.E131* 1.000 pfam_LCCL,superfamily_LCCL,pfscan_LCCL pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors VIT HGNC VNN3 55350 genome.wustl.edu 37 6 133045825 133045825 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 133045825 133045825 A G SNP VNN3 ENST00000207771 human ensembl 70_37 -1 known missense c.1120 p.S374P 0.991 pirsf_Biotinidase_euk pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN3 HGNC VPS13A 23230 genome.wustl.edu 37 9 79875040 79875040 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 79875040 79875040 G A SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known missense c.2327 p.R776Q 0.996 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC VPS13A 23230 genome.wustl.edu 37 9 79999526 79999526 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 79999526 79999526 T G SNP VPS13A ENST00000357409 human ensembl 70_37 +1 known missense c.9215 p.I3072S 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC VPS13B 157680 genome.wustl.edu 37 8 100523692 100523692 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 100523692 100523692 A C SNP VPS13B ENST00000358544 human ensembl 70_37 +1 known missense c.4660 p.I1554L 1.000 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC VPS13C 54832 genome.wustl.edu 37 15 62204064 62204064 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 62204064 62204064 T G SNP VPS13C ENST00000261517 human ensembl 70_37 -1 known missense c.8690 p.K2897T 1.000 pfam_VPSAP pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC VPS39 23339 genome.wustl.edu 37 15 42455913 42455913 + Silent SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 42455913 42455913 T C SNP VPS39 ENST00000348544 human ensembl 70_37 -1 known silent c.2073 p.E691 0.855 NULL pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron - no_errors VPS39 HGNC VPS39 23339 genome.wustl.edu 37 15 42457228 42457228 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 42457228 42457228 A G SNP VPS39 ENST00000348544 human ensembl 70_37 -1 known silent c.1896 p.G632 0.217 NULL pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron - no_errors VPS39 HGNC VWA3B 200403 genome.wustl.edu 37 2 98861919 98861919 + RNA SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 98861919 98861919 G A SNP VWA3B ENST00000490947 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors VWA3B HGNC VWA5A 4013 genome.wustl.edu 37 11 123989239 123989239 + Splice_Site SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 123989239 123989239 G T SNP VWA5A ENST00000392748 human ensembl 70_37 +1 known splice_site c.470-1 e4-1 0.101 - - - no_errors VWA5A HGNC VWA5B2 90113 genome.wustl.edu 37 3 183955029 183955029 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 183955029 183955029 C T SNP VWA5B2 ENST00000426955 human ensembl 70_37 +1 known missense c.1549 p.R517W 1.000 NULL NULL - no_errors VWA5B2 HGNC VWA8 23078 genome.wustl.edu 37 13 42277492 42277492 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 42277492 42277492 T G SNP VWA8 ENST00000379310 human ensembl 70_37 -1 known missense c.3172 p.S1058R 1.000 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC VWA9 81556 genome.wustl.edu 37 15 65888144 65888144 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 65888144 65888144 A C SNP VWA9 ENST00000567744 human ensembl 70_37 -1 known missense c.876 p.F292L 1.000 NULL NULL - no_errors VWA9 HGNC VWF 7450 genome.wustl.edu 37 12 6138539 6138539 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 6138539 6138539 C A SNP VWF ENST00000261405 human ensembl 70_37 -1 known missense c.2936 p.S979I 0.001 pfam_VWF_type-D,smart_VWF_type-D,pirsf_VWF pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pirsf_VWF,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC WDFY1 57590 genome.wustl.edu 37 2 224746785 224746785 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 224746785 224746785 T G SNP WDFY1 ENST00000233055 human ensembl 70_37 -1 known missense c.938 p.H313P 1.000 pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY1 HGNC WDFY3 23001 genome.wustl.edu 37 4 85594031 85594031 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 85594031 85594031 C T SNP WDFY3 ENST00000295888 human ensembl 70_37 -1 known missense c.10571 p.R3524Q 0.977 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC WDFY3 23001 genome.wustl.edu 37 4 85623529 85623529 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 85623529 85623529 A G SNP WDFY3 ENST00000295888 human ensembl 70_37 -1 known missense c.8573 p.F2858S 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC WDFY3 23001 genome.wustl.edu 37 4 85696122 85696122 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 85696122 85696122 C A SNP WDFY3 ENST00000295888 human ensembl 70_37 -1 known missense c.4605 p.K1535N 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC WDFY4 57705 genome.wustl.edu 37 10 50014048 50014048 + Splice_Site SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 50014048 50014048 G T SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known splice_site c.4647-1 e26-1 0.998 - - - no_errors WDFY4 HGNC WDR26 80232 genome.wustl.edu 37 1 224612233 224612233 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 224612233 224612233 G T SNP WDR26 ENST00000414423 human ensembl 70_37 -1 known missense c.751 p.H251N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR26 HGNC WDR33 55339 genome.wustl.edu 37 2 128471326 128471326 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 128471326 128471326 G A SNP WDR33 ENST00000322313 human ensembl 70_37 -1 known nonsense c.3139 p.R1047* 1.000 NULL pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR33 HGNC WDR41 55255 genome.wustl.edu 37 5 76734176 76734176 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 76734176 76734176 G T SNP WDR41 ENST00000296679 human ensembl 70_37 -1 known missense c.893 p.A298D 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR41 HGNC WDR45 11152 genome.wustl.edu 37 X 48934313 48934313 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 48934313 48934313 C T SNP WDR45 ENST00000322995 human ensembl 70_37 -1 known missense c.332 p.R111H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45 HGNC WDR45 11152 genome.wustl.edu 37 X 48935736 48935736 + Nonsense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 48935736 48935736 G A SNP WDR45 ENST00000322995 human ensembl 70_37 -1 known nonsense c.19 p.R7* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45 HGNC WDR60 55112 genome.wustl.edu 37 7 158662589 158662589 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 158662589 158662589 A C SNP WDR60 ENST00000407559 human ensembl 70_37 +1 known missense c.59 p.K20T 0.883 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC WDR65 149465 genome.wustl.edu 37 1 43719782 43719782 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 43719782 43719782 A G SNP WDR65 ENST00000372492 human ensembl 70_37 +1 novel missense c.3673 p.T1225A 0.483 superfamily_Quinonprotein_ADH-like pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC WDR76 79968 genome.wustl.edu 37 15 44120351 44120351 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 44120351 44120351 G T SNP WDR76 ENST00000263795 human ensembl 70_37 +1 known missense c.249 p.K83N 0.466 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR76 HGNC WDR87 83889 genome.wustl.edu 37 19 38377309 38377309 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 38377309 38377309 C A SNP WDR87 ENST00000447313 human ensembl 70_37 -1 known missense c.7002 p.K2334N 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC WDR87 83889 genome.wustl.edu 37 19 38380396 38380396 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 38380396 38380396 G A SNP WDR87 ENST00000447313 human ensembl 70_37 -1 known silent c.3915 p.N1305 0.000 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC WHAMM 123720 genome.wustl.edu 37 15 83485560 83485560 + Silent SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 15 83485560 83485560 G T SNP WHAMM ENST00000286760 human ensembl 70_37 +1 known silent c.900 p.V300 1.000 NULL superfamily_tRNA-bd_arm,pfscan_WH2_dom - no_errors WHAMM HGNC WNK3 65267 genome.wustl.edu 37 X 54324668 54324668 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 54324668 54324668 T G SNP WNK3 ENST00000354646 human ensembl 70_37 -1 known missense c.1338 p.E446D 1.000 pfam_Kinase_OSR1/WNK_CCT pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC WNT5B 81029 genome.wustl.edu 37 12 1740590 1740590 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 1740590 1740590 A G SNP WNT5B ENST00000310594 human ensembl 70_37 +1 known missense c.70 p.N24D 1.000 NULL pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5B HGNC WT1 7490 genome.wustl.edu 37 11 32439182 32439182 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 32439182 32439182 C A SNP WT1 ENST00000332351 human ensembl 70_37 -1 known missense c.891 p.M297I 1.000 pfam_Wilms_tumour_N pfam_Wilms_tumour_N,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Wilms_tumour - no_errors WT1 HGNC WWP2 11060 genome.wustl.edu 37 16 69968006 69968006 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 69968006 69968006 C T SNP WWP2 ENST00000356003 human ensembl 70_37 +1 known missense c.1816 p.R606C 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_WW_Rsp5_WWP,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_WW_Rsp5_WWP - no_errors WWP2 HGNC XCL1 6375 genome.wustl.edu 37 1 168549377 168549377 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 168549377 168549377 G T SNP XCL1 ENST00000367818 human ensembl 70_37 +1 known missense c.138 p.K46N 1.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_lymphotactin_XCL1 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_lymphotactin_XCL1 - no_errors XCL1 HGNC XIAP 331 genome.wustl.edu 37 X 123025119 123025119 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 123025119 123025119 G T SNP XIAP ENST00000355640 human ensembl 70_37 +1 known nonsense c.1009 p.E337* 1.000 NULL pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors XIAP HGNC XKR5 389610 genome.wustl.edu 37 8 6669501 6669501 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 6669501 6669501 T C SNP XKR5 ENST00000405979 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XKR5 HGNC XKR9 389668 genome.wustl.edu 37 8 71646621 71646621 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 71646621 71646621 C A SNP XKR9 ENST00000408926 human ensembl 70_37 +1 known missense c.1084 p.L362I 0.000 NULL pfam_Transport_prot_XK - no_errors XKR9 HGNC XPC 7508 genome.wustl.edu 37 3 14199837 14199837 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 14199837 14199837 C T SNP XPC ENST00000285021 human ensembl 70_37 -1 known missense c.1546 p.D516N 0.116 pfam_Rad4/PNGase_transGLS-fold,tigrfam_DNA_repair_Rad4_subgr pfam_Rad4/PNGase_transGLS-fold,pfam_Rad4_beta-hairpin_dom3,pfam_Rad4_beta-hairpin_dom2,pfam_Rad4_beta-hairpin_dom1,tigrfam_DNA_repair_Rad4_subgr - no_errors XPC HGNC XPNPEP1 7511 genome.wustl.edu 37 10 111624807 111624807 + RNA SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 111624807 111624807 T G SNP XPNPEP1 ENST00000502895 human ensembl 70_37 -1 known rna NULL NULL 0.455 - - - no_errors XPNPEP1 HGNC YPEL5 51646 genome.wustl.edu 37 2 30381758 30381758 + RNA DEL A A - TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 30381758 30381758 A - DEL YPEL5 ENST00000470120 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors YPEL5 HGNC YTHDC1 91746 genome.wustl.edu 37 4 69203597 69203597 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 69203597 69203597 C T SNP YTHDC1 ENST00000344157 human ensembl 70_37 -1 known missense c.152 p.R51Q 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDC1 HGNC YTHDC2 64848 genome.wustl.edu 37 5 112889509 112889509 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 112889509 112889509 A C SNP YTHDC2 ENST00000161863 human ensembl 70_37 +1 known missense c.2010 p.Q670H 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC YTHDC2 64848 genome.wustl.edu 37 5 112927792 112927792 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 112927792 112927792 G A SNP YTHDC2 ENST00000161863 human ensembl 70_37 +1 known missense c.4129 p.E1377K 1.000 pfam_YTH_domain,pfscan_YTH_domain pfam_YTH_domain,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DUF1605,pfam_R3H_ss-bd,superfamily_Ankyrin_rpt-contain_dom,smart_R3H_ss-bd,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_R3H_ss-bd,pfscan_YTH_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors YTHDC2 HGNC ZAN 7455 genome.wustl.edu 37 7 100348282 100348282 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 100348282 100348282 C A SNP ZAN ENST00000546292 human ensembl 70_37 +1 known missense c.1284 p.F428L 0.146 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ZBTB37 84614 genome.wustl.edu 37 1 173854952 173854952 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 173854952 173854952 T C SNP ZBTB37 ENST00000367701 human ensembl 70_37 +1 known missense c.1202 p.F401S 0.995 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB37 HGNC ZBTB4 57659 genome.wustl.edu 37 17 7365529 7365529 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 7365529 7365529 G A SNP ZBTB4 ENST00000311403 human ensembl 70_37 -1 known silent c.2772 p.L924 0.434 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 ZBTB4 HGNC ZC3H3 23144 genome.wustl.edu 37 8 144520231 144520231 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 144520231 144520231 G T SNP ZC3H3 ENST00000262577 human ensembl 70_37 -1 known missense c.2842 p.L948M 0.948 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ZC3H6 376940 genome.wustl.edu 37 2 113057460 113057460 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 113057460 113057460 G A SNP ZC3H6 ENST00000343936 human ensembl 70_37 +1 known missense c.67 p.D23N 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ZC3H6 376940 genome.wustl.edu 37 2 113057490 113057490 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 113057490 113057490 G T SNP ZC3H6 ENST00000343936 human ensembl 70_37 +1 known nonsense c.97 p.E33* 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ZC3H6 376940 genome.wustl.edu 37 2 113057542 113057542 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 113057542 113057542 G T SNP ZC3H6 ENST00000343936 human ensembl 70_37 +1 known missense c.149 p.R50I 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ZC3H8 84524 genome.wustl.edu 37 2 113012538 113012538 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 113012538 113012538 G T SNP ZC3H8 ENST00000272570 human ensembl 70_37 -1 known missense c.21 p.F7L 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H8 HGNC ZCCHC18 644353 genome.wustl.edu 37 X 103359951 103359951 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 103359951 103359951 A C SNP ZCCHC18 ENST00000422784 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ZCCHC18 HGNC ZCCHC6 79670 genome.wustl.edu 37 9 88934520 88934520 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 88934520 88934520 A C SNP ZCCHC6 ENST00000375963 human ensembl 70_37 -1 known missense c.3094 p.F1032V 1.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ZCCHC8 55596 genome.wustl.edu 37 12 122967242 122967242 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 122967242 122967242 C A SNP ZCCHC8 ENST00000336229 human ensembl 70_37 -1 known missense c.672 p.R224S 1.000 superfamily_Znf_CCHC pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ZDBF2 57683 genome.wustl.edu 37 2 207174601 207174601 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 207174601 207174601 G T SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known missense c.5349 p.K1783N 0.000 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ZDBF2 57683 genome.wustl.edu 37 2 207175201 207175201 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 207175201 207175201 G T SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known missense c.5949 p.K1983N 0.050 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ZDBF2 57683 genome.wustl.edu 37 2 207175683 207175683 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 207175683 207175683 G T SNP ZDBF2 ENST00000374423 human ensembl 70_37 +1 known missense c.6431 p.R2144I 0.001 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ZDHHC11 79844 genome.wustl.edu 37 5 848731 848731 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 848731 848731 G A SNP ZDHHC11 ENST00000283441 human ensembl 70_37 -1 known silent c.267 p.I89 0.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11 HGNC ZDHHC17 23390 genome.wustl.edu 37 12 77235776 77235776 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 12 77235776 77235776 T G SNP ZDHHC17 ENST00000334822 human ensembl 70_37 +1 known missense c.1156 p.F386V 1.000 NULL pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase,prints_Ankyrin_rpt - no_errors ZDHHC17 HGNC ZDHHC20 253832 genome.wustl.edu 37 13 21987845 21987845 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 21987845 21987845 T G SNP ZDHHC20 ENST00000400590 human ensembl 70_37 -1 known missense c.316 p.I106L 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC20 HGNC ZEB1 6935 genome.wustl.edu 37 10 31810200 31810200 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 31810200 31810200 C A SNP ZEB1 ENST00000361642 human ensembl 70_37 +1 known missense c.1940 p.S647Y 1.000 superfamily_Homeodomain-like pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB1 HGNC ZEB2 9839 genome.wustl.edu 37 2 145147236 145147236 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 145147236 145147236 C A SNP ZEB2 ENST00000303660 human ensembl 70_37 -1 known nonsense c.3427 p.E1143* 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ZFHX3 463 genome.wustl.edu 37 16 72827732 72827732 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 72827732 72827732 C T SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known missense c.8849 p.R2950H 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ZFHX3 463 genome.wustl.edu 37 16 72845843 72845843 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 72845843 72845843 C T SNP ZFHX3 ENST00000268489 human ensembl 70_37 -1 known silent c.3624 p.S1208 0.026 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ZFP2 80108 genome.wustl.edu 37 5 178358445 178358445 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 178358445 178358445 G A SNP ZFP2 ENST00000361362 human ensembl 70_37 +1 known missense c.131 p.R44K 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP2 HGNC ZFP28 140612 genome.wustl.edu 37 19 57066329 57066329 + Silent SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 57066329 57066329 C A SNP ZFP28 ENST00000301318 human ensembl 70_37 +1 known silent c.2175 p.G725 0.998 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 ZFP28 HGNC ZFP36 7538 genome.wustl.edu 37 19 39899088 39899088 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 39899088 39899088 G T SNP ZFP36 ENST00000597629 human ensembl 70_37 +1 known missense c.748 p.D250Y 0.039 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36 HGNC ZFP62 643836 genome.wustl.edu 37 5 180277034 180277034 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 180277034 180277034 G A SNP ZFP62 ENST00000512132 human ensembl 70_37 -1 known silent c.1362 p.I454 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP62 HGNC ZFPM2 23414 genome.wustl.edu 37 8 106646569 106646569 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 106646569 106646569 C T SNP ZFPM2 ENST00000407775 human ensembl 70_37 +1 known silent c.516 p.C172 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ZFYVE26 23503 genome.wustl.edu 37 14 68229033 68229033 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 14 68229033 68229033 A C SNP ZFYVE26 ENST00000347230 human ensembl 70_37 -1 known missense c.6256 p.F2086V 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ZHX1 11244 genome.wustl.edu 37 8 124279616 124279616 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 124279616 124279616 T C SNP ZHX1 ENST00000480132 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZHX1 HGNC ZHX2 22882 genome.wustl.edu 37 8 123964315 123964315 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 123964315 123964315 C T SNP ZHX2 ENST00000314393 human ensembl 70_37 +1 known missense c.565 p.P189S 0.386 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ZIC2 7546 genome.wustl.edu 37 13 100637349 100637349 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 13 100637349 100637349 C T SNP ZIC2 ENST00000376335 human ensembl 70_37 +1 known missense c.1225 p.R409W 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC2 HGNC ZMPSTE24 10269 genome.wustl.edu 37 1 40737688 40737688 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 40737688 40737688 G A SNP ZMPSTE24 ENST00000372759 human ensembl 70_37 +1 known silent c.750 p.T250 0.943 pfam_Peptidase_M48 pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ZMYM3 9203 genome.wustl.edu 37 X 70473060 70473060 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 70473060 70473060 G T SNP ZMYM3 ENST00000373988 human ensembl 70_37 -1 known missense c.46 p.P16T 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM3 HGNC ZMYND12 84217 genome.wustl.edu 37 1 42898673 42898673 + RNA SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 42898673 42898673 C T SNP ZMYND12 ENST00000475426 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZMYND12 HGNC ZMYND15 84225 genome.wustl.edu 37 17 4647739 4647739 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 4647739 4647739 G A SNP ZMYND15 ENST00000433935 human ensembl 70_37 +1 known missense c.1660 p.E554K 0.998 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND15 HGNC ZMYND8 23613 genome.wustl.edu 37 20 45855964 45855964 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 20 45855964 45855964 C T SNP ZMYND8 ENST00000536340 human ensembl 70_37 -1 known missense c.3019 p.E1007K 1.000 NULL pfam_DUF3544,pfam_Bromodomain,pfam_PWWP,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ZNF121 7675 genome.wustl.edu 37 19 9676775 9676775 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 9676775 9676775 T G SNP ZNF121 ENST00000320451 human ensembl 70_37 -1 known missense c.1014 p.K338N 0.998 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF121 HGNC ZNF157 7712 genome.wustl.edu 37 X 47272521 47272521 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 47272521 47272521 G T SNP ZNF157 ENST00000377073 human ensembl 70_37 +1 known missense c.1049 p.R350I 1.000 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 ZNF157 HGNC ZNF16 7564 genome.wustl.edu 37 8 146156819 146156819 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 146156819 146156819 G A SNP ZNF16 ENST00000276816 human ensembl 70_37 -1 known missense c.1354 p.R452W 0.044 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF16 HGNC ZNF180 7733 genome.wustl.edu 37 19 44981496 44981496 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 44981496 44981496 C A SNP ZNF180 ENST00000221327 human ensembl 70_37 -1 known missense c.1202 p.R401I 1.000 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 ZNF180 HGNC ZNF189 7743 genome.wustl.edu 37 9 104171026 104171026 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 104171026 104171026 C T SNP ZNF189 ENST00000339664 human ensembl 70_37 +1 known nonsense c.976 p.R326* 0.970 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 ZNF189 HGNC ZNF2 7549 genome.wustl.edu 37 2 95847075 95847075 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 95847075 95847075 C A SNP ZNF2 ENST00000340539 human ensembl 70_37 +1 known missense c.502 p.L168I 0.025 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF2 HGNC ZNF208 7757 genome.wustl.edu 37 19 22156286 22156286 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 22156286 22156286 C A SNP ZNF208 ENST00000397126 human ensembl 70_37 -1 novel missense c.1550 p.R517I 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 ZNF208 HGNC ZNF229 7772 genome.wustl.edu 37 19 44933581 44933581 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 44933581 44933581 T G SNP ZNF229 ENST00000588931 human ensembl 70_37 -1 known missense c.1375 p.K459Q 0.908 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 ZNF229 HGNC ZNF229 7772 genome.wustl.edu 37 19 44934110 44934110 + Silent SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 44934110 44934110 C T SNP ZNF229 ENST00000588931 human ensembl 70_37 -1 known silent c.846 p.P282 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF229 HGNC ZNF253 56242 genome.wustl.edu 37 19 20002715 20002715 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 20002715 20002715 G T SNP ZNF253 ENST00000589717 human ensembl 70_37 +1 known missense c.659 p.R220I 1.000 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 ZNF253 HGNC ZNF256 10172 genome.wustl.edu 37 19 58453782 58453782 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 58453782 58453782 A G SNP ZNF256 ENST00000282308 human ensembl 70_37 -1 known missense c.394 p.Y132H 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF256 HGNC ZNF280B 140883 genome.wustl.edu 37 22 22842318 22842318 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 22842318 22842318 A C SNP ZNF280B ENST00000360412 human ensembl 70_37 -1 known missense c.1406 p.F469C 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280B HGNC ZNF280B 140883 genome.wustl.edu 37 22 22842526 22842526 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 22 22842526 22842526 C T SNP ZNF280B ENST00000360412 human ensembl 70_37 -1 known missense c.1198 p.E400K 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280B HGNC ZNF283 284349 genome.wustl.edu 37 19 44352021 44352021 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 44352021 44352021 G T SNP ZNF283 ENST00000324461 human ensembl 70_37 +1 known missense c.1268 p.R423I 0.893 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 ZNF283 HGNC ZNF283 284349 genome.wustl.edu 37 19 44352726 44352726 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 44352726 44352726 A G SNP ZNF283 ENST00000324461 human ensembl 70_37 +1 known missense c.1973 p.E658G 0.029 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF283 HGNC ZNF300 91975 genome.wustl.edu 37 5 150275824 150275824 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 150275824 150275824 T G SNP ZNF300 ENST00000446148 human ensembl 70_37 -1 known missense c.1025 p.D342A 0.079 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 ZNF300 HGNC ZNF300P1 134466 genome.wustl.edu 37 5 150310854 150310854 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 150310854 150310854 C A SNP ZNF300P1 ENST00000520773 human ensembl 70_37 -1 known rna NULL NULL 0.999 - - - no_errors ZNF300P1 HGNC ZNF304 57343 genome.wustl.edu 37 19 57869030 57869030 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 57869030 57869030 G A SNP ZNF304 ENST00000282286 human ensembl 70_37 +1 known missense c.1793 p.R598H 0.751 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 ZNF304 HGNC ZNF329 79673 genome.wustl.edu 37 19 58640843 58640843 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 58640843 58640843 A C SNP ZNF329 ENST00000358067 human ensembl 70_37 -1 known missense c.28 p.F10V 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ZNF330 27309 genome.wustl.edu 37 4 142145644 142145644 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 142145644 142145644 T G SNP ZNF330 ENST00000262990 human ensembl 70_37 +1 known missense c.124 p.C42G 1.000 pfam_NOA36 pfam_NOA36 - no_errors ZNF330 HGNC ZNF331 55422 genome.wustl.edu 37 19 54080602 54080602 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 54080602 54080602 G T SNP ZNF331 ENST00000253144 human ensembl 70_37 +1 known missense c.788 p.R263I 1.000 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 ZNF331 HGNC ZNF345 25850 genome.wustl.edu 37 19 37368187 37368187 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 37368187 37368187 G T SNP ZNF345 ENST00000420450 human ensembl 70_37 +1 known missense c.455 p.G152V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF345 HGNC ZNF345 25850 genome.wustl.edu 37 19 37368458 37368458 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 37368458 37368458 T G SNP ZNF345 ENST00000420450 human ensembl 70_37 +1 known silent c.726 p.G242 0.027 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF345 HGNC ZNF347 84671 genome.wustl.edu 37 19 53652026 53652026 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 53652026 53652026 A G SNP ZNF347 ENST00000452676 human ensembl 70_37 -1 known missense c.182 p.L61S 0.001 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 ZNF347 HGNC ZNF354C 30832 genome.wustl.edu 37 5 178506476 178506476 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 178506476 178506476 G T SNP ZNF354C ENST00000315475 human ensembl 70_37 +1 known missense c.1043 p.R348I 0.963 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 ZNF354C HGNC ZNF391 346157 genome.wustl.edu 37 6 27369123 27369123 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 27369123 27369123 G T SNP ZNF391 ENST00000244576 human ensembl 70_37 +1 known missense c.974 p.R325I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF391 HGNC ZNF404 342908 genome.wustl.edu 37 19 44376971 44376971 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 44376971 44376971 T G SNP ZNF404 ENST00000587539 human ensembl 70_37 -1 known missense c.1395 p.K465N 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 ZNF404 HGNC ZNF41 7592 genome.wustl.edu 37 X 47307793 47307793 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 47307793 47307793 C A SNP ZNF41 ENST00000397050 human ensembl 70_37 -1 known missense c.1406 p.R469I 1.000 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 ZNF41 HGNC ZNF41 7592 genome.wustl.edu 37 X 47307961 47307961 + Missense_Mutation SNP T T A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 47307961 47307961 T A SNP ZNF41 ENST00000397050 human ensembl 70_37 -1 known missense c.1238 p.K413I 0.994 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 ZNF41 HGNC ZNF415 55786 genome.wustl.edu 37 19 53611640 53611640 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 53611640 53611640 T G SNP ZNF415 ENST00000448501 human ensembl 70_37 -1 known missense c.1802 p.K601T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ZNF415 55786 genome.wustl.edu 37 19 53619657 53619657 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 53619657 53619657 G T SNP ZNF415 ENST00000243643 human ensembl 70_37 -1 known missense c.45 p.F15L 0.052 pfam_Krueppel-associated_box,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,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF415 HGNC ZNF417 147687 genome.wustl.edu 37 19 58420963 58420963 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 58420963 58420963 A C SNP ZNF417 ENST00000312026 human ensembl 70_37 -1 known missense c.683 p.I228S 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF417 HGNC ZNF420 147923 genome.wustl.edu 37 19 37619728 37619728 + Missense_Mutation SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 37619728 37619728 A G SNP ZNF420 ENST00000337995 human ensembl 70_37 +1 known missense c.1835 p.E612G 0.998 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 ZNF420 HGNC ZNF425 155054 genome.wustl.edu 37 7 148802632 148802632 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 148802632 148802632 C A SNP ZNF425 ENST00000378061 human ensembl 70_37 -1 known nonsense c.331 p.E111* 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF425 HGNC ZNF433 163059 genome.wustl.edu 37 19 12125837 12125837 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 12125837 12125837 C A SNP ZNF433 ENST00000344980 human ensembl 70_37 -1 known missense c.1845 p.E615D 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 ZNF433 HGNC ZNF443 10224 genome.wustl.edu 37 19 12542059 12542059 + Silent SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 12542059 12542059 A G SNP ZNF443 ENST00000301547 human ensembl 70_37 -1 known silent c.927 p.Y309 0.058 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 ZNF443 HGNC ZNF449 203523 genome.wustl.edu 37 X 134493904 134493904 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 134493904 134493904 T G SNP ZNF449 ENST00000339249 human ensembl 70_37 +1 known missense c.647 p.M216R 0.983 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF449 HGNC ZNF451 26036 genome.wustl.edu 37 6 56993563 56993563 + Nonsense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 6 56993563 56993563 G T SNP ZNF451 ENST00000370706 human ensembl 70_37 +1 known nonsense c.349 p.E117* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF451 HGNC ZNF469 84627 genome.wustl.edu 37 16 88498918 88498918 + Silent SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 88498918 88498918 T G SNP ZNF469 ENST00000437464 human ensembl 70_37 +1 known silent c.4956 p.V1652 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ZNF479 90827 genome.wustl.edu 37 7 57188757 57188757 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 57188757 57188757 T G SNP ZNF479 ENST00000331162 human ensembl 70_37 -1 known missense c.365 p.K122T 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF479 HGNC ZNF484 83744 genome.wustl.edu 37 9 95609789 95609789 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 9 95609789 95609789 A C SNP ZNF484 ENST00000395506 human ensembl 70_37 -1 known missense c.1286 p.F429C 0.809 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 ZNF484 HGNC ZNF502 91392 genome.wustl.edu 37 3 44762970 44762970 + Nonsense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 44762970 44762970 C T SNP ZNF502 ENST00000296091 human ensembl 70_37 +1 known nonsense c.661 p.R221* 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF502 HGNC ZNF502 91392 genome.wustl.edu 37 3 44763337 44763337 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 44763337 44763337 G T SNP ZNF502 ENST00000296091 human ensembl 70_37 +1 known missense c.1028 p.R343I 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF502 HGNC ZNF502 91392 genome.wustl.edu 37 3 44763338 44763338 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 3 44763338 44763338 A C SNP ZNF502 ENST00000296091 human ensembl 70_37 +1 known missense c.1029 p.R343S 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF502 HGNC ZNF507 22847 genome.wustl.edu 37 19 32873985 32873985 + Missense_Mutation SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 32873985 32873985 A T SNP ZNF507 ENST00000311921 human ensembl 70_37 +1 known missense c.2858 p.N953I 0.986 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ZNF516 9658 genome.wustl.edu 37 18 74074245 74074245 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 18 74074245 74074245 T C SNP ZNF516 ENST00000524431 human ensembl 70_37 -1 known rna NULL NULL 0.112 - - - no_errors ZNF516 HGNC ZNF518A 9849 genome.wustl.edu 37 10 97917657 97917657 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 10 97917657 97917657 T C SNP ZNF518A ENST00000316045 human ensembl 70_37 +1 known rna NULL NULL 0.023 - - - no_errors ZNF518A HGNC ZNF525 170958 genome.wustl.edu 37 19 53884683 53884683 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 53884683 53884683 C A SNP ZNF525 ENST00000355326 human ensembl 70_37 +1 known nonsense c.5 p.S2* 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF525 HGNC ZNF528 84436 genome.wustl.edu 37 19 52919122 52919122 + Nonsense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 52919122 52919122 T G SNP ZNF528 ENST00000360465 human ensembl 70_37 +1 known nonsense c.1017 p.Y339* 0.001 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 ZNF528 HGNC ZNF536 9745 genome.wustl.edu 37 19 30935924 30935924 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 30935924 30935924 G T SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known missense c.1455 p.K485N 0.997 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ZNF541 84215 genome.wustl.edu 37 19 48043494 48043494 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 48043494 48043494 C T SNP ZNF541 ENST00000314121 human ensembl 70_37 -1 known missense c.2561 p.S854N 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_ELM2_dom,pfam_Znf_C2H2,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors ZNF541 HGNC ZNF542 147947 genome.wustl.edu 37 19 56888473 56888473 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 56888473 56888473 G T SNP ZNF542 ENST00000467807 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF542 HGNC ZNF549 256051 genome.wustl.edu 37 19 58048626 58048626 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 58048626 58048626 C T SNP ZNF549 ENST00000376233 human ensembl 70_37 +1 known missense c.254 p.A85V 0.000 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 ZNF549 HGNC ZNF560 147741 genome.wustl.edu 37 19 9577552 9577552 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 9577552 9577552 T G SNP ZNF560 ENST00000301480 human ensembl 70_37 -1 known missense c.2071 p.N691H 0.910 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF560 HGNC ZNF561 93134 genome.wustl.edu 37 19 9721199 9721199 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 9721199 9721199 G T SNP ZNF561 ENST00000302851 human ensembl 70_37 -1 known missense c.1138 p.L380I 0.005 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 ZNF561 HGNC ZNF570 148268 genome.wustl.edu 37 19 37974926 37974926 + Nonsense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 37974926 37974926 T G SNP ZNF570 ENST00000330173 human ensembl 70_37 +1 known nonsense c.402 p.Y134* 0.710 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF570 HGNC ZNF583 147949 genome.wustl.edu 37 19 56934722 56934722 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 56934722 56934722 G T SNP ZNF583 ENST00000291598 human ensembl 70_37 +1 known missense c.695 p.R232I 0.936 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 ZNF583 HGNC ZNF583 147949 genome.wustl.edu 37 19 56935058 56935058 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 56935058 56935058 G T SNP ZNF583 ENST00000291598 human ensembl 70_37 +1 known missense c.1031 p.R344I 0.968 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 ZNF583 HGNC ZNF585B 92285 genome.wustl.edu 37 19 37676174 37676174 + Silent SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 37676174 37676174 G A SNP ZNF585B ENST00000532828 human ensembl 70_37 -1 known silent c.2265 p.F755 0.452 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 ZNF585B HGNC ZNF594 84622 genome.wustl.edu 37 17 5085175 5085175 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 5085175 5085175 C A SNP ZNF594 ENST00000399604 human ensembl 70_37 -1 known nonsense c.2377 p.E793* 0.355 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ZNF595 152687 genome.wustl.edu 37 4 85884 85884 + RNA SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 85884 85884 T C SNP ZNF595 ENST00000339368 human ensembl 70_37 +1 known rna NULL NULL 0.348 - - - no_errors ZNF595 HGNC ZNF608 57507 genome.wustl.edu 37 5 123984032 123984032 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 5 123984032 123984032 G A SNP ZNF608 ENST00000306315 human ensembl 70_37 -1 known missense c.2045 p.A682V 0.012 NULL NULL - no_errors ZNF608 HGNC ZNF610 162963 genome.wustl.edu 37 19 52869563 52869563 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 52869563 52869563 C A SNP ZNF610 ENST00000321287 human ensembl 70_37 +1 known missense c.932 p.T311N 0.998 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 ZNF610 HGNC ZNF610 162963 genome.wustl.edu 37 19 52869638 52869638 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 52869638 52869638 G T SNP ZNF610 ENST00000321287 human ensembl 70_37 +1 known missense c.1007 p.R336I 0.855 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 ZNF610 HGNC ZNF630 57232 genome.wustl.edu 37 X 47918395 47918395 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 47918395 47918395 C A SNP ZNF630 ENST00000409324 human ensembl 70_37 -1 known missense c.1436 p.R479I 0.899 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 ZNF630 HGNC ZNF630 57232 genome.wustl.edu 37 X 47918815 47918815 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 47918815 47918815 C A SNP ZNF630 ENST00000409324 human ensembl 70_37 -1 known missense c.1016 p.R339I 1.000 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 ZNF644 84146 genome.wustl.edu 37 1 91406821 91406821 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 91406821 91406821 C A SNP ZNF644 ENST00000337393 human ensembl 70_37 -1 known missense c.90 p.K30N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ZNF645 158506 genome.wustl.edu 37 X 22291431 22291431 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 X 22291431 22291431 G A SNP ZNF645 ENST00000323684 human ensembl 70_37 +1 known missense c.323 p.R108Q 0.003 NULL pfscan_Znf_RING,pfscan_Znf_C2H2 - no_errors ZNF645 HGNC ZNF648 127665 genome.wustl.edu 37 1 182025669 182025669 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 182025669 182025669 G A SNP ZNF648 ENST00000339948 human ensembl 70_37 -1 known missense c.1477 p.R493W 0.968 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ZNF649 65251 genome.wustl.edu 37 19 52394040 52394040 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 52394040 52394040 C A SNP ZNF649 ENST00000354957 human ensembl 70_37 -1 known missense c.1349 p.R450I 0.245 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 ZNF649 HGNC ZNF675 171392 genome.wustl.edu 37 19 23837076 23837076 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 23837076 23837076 C A SNP ZNF675 ENST00000359788 human ensembl 70_37 -1 known missense c.659 p.R220I 1.000 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 ZNF675 HGNC ZNF678 339500 genome.wustl.edu 37 1 227842267 227842267 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 227842267 227842267 T G SNP ZNF678 ENST00000397097 human ensembl 70_37 +1 known missense c.481 p.F161V 0.355 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 ZNF678 HGNC ZNF681 148213 genome.wustl.edu 37 19 23926771 23926771 + Missense_Mutation SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 23926771 23926771 A C SNP ZNF681 ENST00000402377 human ensembl 70_37 -1 known missense c.1581 p.I527M 0.999 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 ZNF681 HGNC ZNF699 374879 genome.wustl.edu 37 19 9406915 9406915 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 9406915 9406915 T C SNP ZNF699 ENST00000308650 human ensembl 70_37 -1 known missense c.1165 p.K389E 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 ZNF699 HGNC ZNF702P 79986 genome.wustl.edu 37 19 53473006 53473006 + RNA SNP A A G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 53473006 53473006 A G SNP ZNF702P ENST00000270443 human ensembl 70_37 -1 known rna NULL NULL 0.058 - - - no_errors ZNF702P HGNC ZNF702P 79986 genome.wustl.edu 37 19 53473542 53473542 + RNA SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 53473542 53473542 C A SNP ZNF702P ENST00000270443 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF702P HGNC ZNF702P 79986 genome.wustl.edu 37 19 53473857 53473857 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 53473857 53473857 A C SNP ZNF702P ENST00000270443 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF702P HGNC ZNF705E 100131539 genome.wustl.edu 37 11 71527750 71527750 + RNA SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 71527750 71527750 A C SNP ZNF705E ENST00000525199 human ensembl 70_37 -1 known rna NULL NULL 0.595 - - - no_errors ZNF705E HGNC ZNF705G 100131980 genome.wustl.edu 37 8 7217855 7217855 + Splice_Site SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 8 7217855 7217855 C A SNP ZNF705G ENST00000400078 human ensembl 70_37 -1 known splice_site c.140-1 e3-1 0.122 - - - no_errors ZNF705G HGNC ZNF716 441234 genome.wustl.edu 37 7 57528744 57528744 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 57528744 57528744 T C SNP ZNF716 ENST00000420713 human ensembl 70_37 +1 known missense c.577 p.S193P 0.363 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 ZNF716 HGNC ZNF728 388523 genome.wustl.edu 37 19 23171152 23171152 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 23171152 23171152 C A SNP ZNF728 ENST00000594710 human ensembl 70_37 -1 novel missense c.105 p.E35D 0.893 pfam_Krueppel-associated_box,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 ZNF728 HGNC ZNF732 654254 genome.wustl.edu 37 4 265510 265510 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 4 265510 265510 T G SNP ZNF732 ENST00000419098 human ensembl 70_37 -1 known missense c.1136 p.K379T 0.013 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 ZNF732 HGNC ZNF749 388567 genome.wustl.edu 37 19 57955457 57955457 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 57955457 57955457 T C SNP ZNF749 ENST00000334181 human ensembl 70_37 +1 known missense c.941 p.V314A 0.000 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 ZNF749 HGNC ZNF75A 7627 genome.wustl.edu 37 16 3358639 3358639 + RNA SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 16 3358639 3358639 G T SNP ZNF75A ENST00000498240 human ensembl 70_37 +1 known rna NULL NULL 0.881 - - - no_errors ZNF75A HGNC ZNF763 284390 genome.wustl.edu 37 19 12089292 12089292 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 12089292 12089292 T C SNP ZNF763 ENST00000538752 human ensembl 70_37 +1 known missense c.613 p.S205P 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF763 HGNC ZNF77 58492 genome.wustl.edu 37 19 2934814 2934814 + Splice_Site SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 2934814 2934814 C T SNP ZNF77 ENST00000314531 human ensembl 70_37 -1 known splice_site c.312-1 e4-1 0.856 - - - no_errors ZNF77 HGNC ZNF773 374928 genome.wustl.edu 37 19 58018347 58018347 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 58018347 58018347 G T SNP ZNF773 ENST00000282292 human ensembl 70_37 +1 known missense c.884 p.R295I 0.140 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 ZNF773 HGNC ZNF780B 163131 genome.wustl.edu 37 19 40540448 40540448 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 40540448 40540448 C A SNP ZNF780B ENST00000434248 human ensembl 70_37 -1 known missense c.2318 p.S773I 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 ZNF780B HGNC ZNF800 168850 genome.wustl.edu 37 7 127014976 127014976 + Silent SNP A A C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 127014976 127014976 A C SNP ZNF800 ENST00000265827 human ensembl 70_37 -1 known silent c.414 p.T138 0.711 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ZNF804A 91752 genome.wustl.edu 37 2 185802173 185802173 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 185802173 185802173 T G SNP ZNF804A ENST00000302277 human ensembl 70_37 +1 known missense c.2050 p.Y684D 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ZNF804B 219578 genome.wustl.edu 37 7 88962847 88962847 + Missense_Mutation SNP C C T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 88962847 88962847 C T SNP ZNF804B ENST00000333190 human ensembl 70_37 +1 known missense c.551 p.T184I 0.007 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ZNF812 729648 genome.wustl.edu 37 19 9800869 9800869 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 9800869 9800869 C A SNP ZNF812 ENST00000457674 human ensembl 70_37 -1 known missense c.1310 p.R437I 0.955 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 ZNF812 HGNC ZNF814 730051 genome.wustl.edu 37 19 58384949 58384949 + Silent SNP A A T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 58384949 58384949 A T SNP ZNF814 ENST00000435989 human ensembl 70_37 -1 known silent c.1809 p.P603 0.312 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 ZNF814 HGNC ZNF816 125893 genome.wustl.edu 37 19 53453422 53453422 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 53453422 53453422 G T SNP ZNF816 ENST00000357666 human ensembl 70_37 -1 known missense c.1606 p.P536T 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 ZNF816 HGNC ZNF816 125893 genome.wustl.edu 37 19 53453865 53453865 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 53453865 53453865 T C SNP ZNF816 ENST00000357666 human ensembl 70_37 -1 known missense c.1163 p.H388R 0.274 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 ZNF816 HGNC ZNF862 643641 genome.wustl.edu 37 7 149557897 149557897 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 7 149557897 149557897 G A SNP ZNF862 ENST00000223210 human ensembl 70_37 +1 known missense c.1648 p.D550N 0.993 NULL pfam_Krueppel-associated_box,pfam_HATC,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ZNF880 400713 genome.wustl.edu 37 19 52887236 52887236 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 52887236 52887236 G A SNP ZNF880 ENST00000422689 human ensembl 70_37 +1 known missense c.403 p.E135K 0.009 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF880 HGNC ZNF880 400713 genome.wustl.edu 37 19 52888452 52888452 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 52888452 52888452 G T SNP ZNF880 ENST00000422689 human ensembl 70_37 +1 known missense c.1619 p.R540I 0.709 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 ZNF880 HGNC ZNF90 7643 genome.wustl.edu 37 19 20228640 20228640 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 20228640 20228640 G T SNP ZNF90 ENST00000418063 human ensembl 70_37 +1 known missense c.277 p.D93Y 0.020 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF90 HGNC ZNF98 148198 genome.wustl.edu 37 19 22574445 22574445 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 22574445 22574445 G T SNP ZNF98 ENST00000357774 human ensembl 70_37 -1 known missense c.1592 p.S531Y 0.000 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 ZNF98 HGNC ZNF99 7652 genome.wustl.edu 37 19 22942310 22942310 + Missense_Mutation SNP T T C TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 19 22942310 22942310 T C SNP ZNF99 ENST00000397104 human ensembl 70_37 -1 known missense c.464 p.N155S 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ZSWIM2 151112 genome.wustl.edu 37 2 187693353 187693353 + Missense_Mutation SNP T T G TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 2 187693353 187693353 T G SNP ZSWIM2 ENST00000295131 human ensembl 70_37 -1 known missense c.1260 p.K420N 0.896 NULL pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC ZW10 9183 genome.wustl.edu 37 11 113604472 113604472 + Missense_Mutation SNP G G A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 11 113604472 113604472 G A SNP ZW10 ENST00000200135 human ensembl 70_37 -1 known missense c.2284 p.R762C 1.000 NULL pfam_RZZ-complex_Zw10 - no_errors ZW10 HGNC ZYG11A 440590 genome.wustl.edu 37 1 53352630 53352630 + Missense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 53352630 53352630 C A SNP ZYG11A ENST00000371528 human ensembl 70_37 +1 known missense c.2009 p.S670Y 0.998 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors ZYG11A HGNC ZYG11B 79699 genome.wustl.edu 37 1 53287173 53287173 + Missense_Mutation SNP G G T TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 1 53287173 53287173 G T SNP ZYG11B ENST00000294353 human ensembl 70_37 +1 known missense c.2107 p.D703Y 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors ZYG11B HGNC ZZEF1 23140 genome.wustl.edu 37 17 3969795 3969795 + Nonsense_Mutation SNP C C A TCGA-FU-A3HZ-01A-11D-A20U-09 TCGA-FU-A3HZ-10A-01D-A20U-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq b0c92b76-7ee8-44bd-a5c4-5dc807bbb8ed 2dd3e992-bac4-48ec-92b4-07797eb87746 17 3969795 3969795 C A SNP ZZEF1 ENST00000381638 human ensembl 70_37 -1 known nonsense c.4195 p.E1399* 0.562 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC