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 AASS 10157 genome.wustl.edu 37 7 121718000 121718000 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 121718000 121718000 C T SNP AASS ENST00000393376 human ensembl 70_37 -1 known missense c.2554 p.E852K 1.000 pfam_Saccharopine_DH/HSpermid_syn pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ABCA13 154664 genome.wustl.edu 37 7 48494709 48494709 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 48494709 48494709 G A SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.12641 p.R4214Q 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 48511183 48511183 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 48511183 48511183 C T SNP ABCA13 ENST00000435803 human ensembl 70_37 +1 known missense c.12962 p.S4321L 0.901 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ABCA4 24 genome.wustl.edu 37 1 94508319 94508319 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 94508319 94508319 G C SNP ABCA4 ENST00000370225 human ensembl 70_37 -1 known nonsense c.3326 p.S1109* 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ABCA4 24 genome.wustl.edu 37 1 94568588 94568588 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 94568588 94568588 G A SNP ABCA4 ENST00000370225 human ensembl 70_37 -1 known nonsense c.553 p.Q185* 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ABCB1 5243 genome.wustl.edu 37 7 87133740 87133740 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 87133740 87133740 G C SNP ABCB1 ENST00000265724 human ensembl 70_37 -1 known missense c.3662 p.A1221G 1.000 pfam_ABC_ATPase_put,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB1 HGNC ABCB8 11194 genome.wustl.edu 37 7 150730662 150730662 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 150730662 150730662 C T SNP ABCB8 ENST00000466956 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors ABCB8 HGNC ABCC3 8714 genome.wustl.edu 37 17 48745156 48745156 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 48745156 48745156 G T SNP ABCC3 ENST00000427699 human ensembl 70_37 +1 known missense c.1673 p.G558V 0.003 NULL pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 - no_errors ABCC3 HGNC ABCC3 8714 genome.wustl.edu 37 17 48768463 48768463 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 48768463 48768463 C G SNP ABCC3 ENST00000285238 human ensembl 70_37 +1 known missense c.4486 p.L1496V 0.999 smart_AAA+_ATPase,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 ABCC3 HGNC ABCC6 368 genome.wustl.edu 37 16 16315644 16315644 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 16315644 16315644 C G SNP ABCC6 ENST00000205557 human ensembl 70_37 -1 known silent c.81 p.L27 0.004 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 ABCC6 HGNC ABCG8 64241 genome.wustl.edu 37 2 44104794 44104794 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 44104794 44104794 C T SNP ABCG8 ENST00000272286 human ensembl 70_37 +1 known silent c.1851 p.L617 0.003 NULL pfam_ABC_2_trans,pfam_ABC_transporter-like,pfscan_ABC_transporter-like - no_errors ABCG8 HGNC ABHD8 79575 genome.wustl.edu 37 19 17405543 17405543 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 17405543 17405543 G A SNP ABHD8 ENST00000247706 human ensembl 70_37 -1 known silent c.873 p.F291 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ABHD8 79575 genome.wustl.edu 37 19 17405645 17405645 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 17405645 17405645 G A SNP ABHD8 ENST00000247706 human ensembl 70_37 -1 known silent c.771 p.F257 1.000 pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ACAD10 80724 genome.wustl.edu 37 12 112167695 112167695 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 112167695 112167695 G C SNP ACAD10 ENST00000455480 human ensembl 70_37 +1 known silent c.1422 p.L474 1.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Dehalogen-like_hydro,superfamily_AcylCoA_DH/oxidase,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA_v3 - no_errors ACAD10 HGNC ACADM 34 genome.wustl.edu 37 1 76226834 76226834 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 76226834 76226834 G T SNP ACADM ENST00000420607 human ensembl 70_37 +1 known nonsense c.985 p.E329* 1.000 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 ACADM HGNC ACADM 34 genome.wustl.edu 37 1 76226875 76226875 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 76226875 76226875 G T SNP ACADM ENST00000420607 human ensembl 70_37 +1 known missense c.1026 p.Q342H 1.000 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 ACADM HGNC ACADM 34 genome.wustl.edu 37 1 76226877 76226877 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 76226877 76226877 G A SNP ACADM ENST00000420607 human ensembl 70_37 +1 known missense c.1028 p.R343K 1.000 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 ACADM HGNC ACADM 34 genome.wustl.edu 37 1 76226983 76226983 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 76226983 76226983 G A SNP ACADM ENST00000420607 human ensembl 70_37 +1 known silent c.1134 p.Q378 0.997 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 ACADM HGNC ACAN 176 genome.wustl.edu 37 15 89416118 89416118 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 89416118 89416118 G C SNP ACAN ENST00000439576 human ensembl 70_37 +1 known missense c.7195 p.E2399Q 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link - no_errors ACAN HGNC ACP5 54 genome.wustl.edu 37 19 11685968 11685968 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 11685968 11685968 G A SNP ACP5 ENST00000218758 human ensembl 70_37 -1 known silent c.835 p.L279 1.000 NULL pfam_Metallo_PEstase_dom - no_errors ACP5 HGNC ACTG2 72 genome.wustl.edu 37 2 74129532 74129532 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 74129532 74129532 G A SNP ACTG2 ENST00000345517 human ensembl 70_37 +1 known missense c.172 p.E58K 1.000 pfam_Actin-like,smart_Actin-like,prints_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTG2 HGNC ACTL7A 10881 genome.wustl.edu 37 9 111625727 111625727 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 111625727 111625727 G A SNP ACTL7A ENST00000333999 human ensembl 70_37 +1 known silent c.1125 p.Q375 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL7A HGNC ACTR2 10097 genome.wustl.edu 37 2 65473825 65473825 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 65473825 65473825 C T SNP ACTR2 ENST00000377982 human ensembl 70_37 +1 known silent c.342 p.L114 1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTR2 HGNC ACTR8 93973 genome.wustl.edu 37 3 53916116 53916116 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 53916116 53916116 C G SNP ACTR8 ENST00000335754 human ensembl 70_37 -1 known missense c.13 p.E5Q 1.000 NULL pfam_Actin-like,smart_Actin-like - no_errors ACTR8 HGNC ACVR2B 93 genome.wustl.edu 37 3 38519415 38519415 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 38519415 38519415 C T SNP ACVR2B ENST00000352511 human ensembl 70_37 +1 known silent c.324 p.F108 1.000 pfam_Activin_rcpt,prints_Activin_II/TGFBeta-II_recpt 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 ACVR2B HGNC ADAM21 8747 genome.wustl.edu 37 14 70925266 70925266 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 70925266 70925266 G T SNP ADAM21 ENST00000267499 human ensembl 70_37 +1 known missense c.1050 p.Q350H 0.011 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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 70926021 70926021 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 70926021 70926021 C G SNP ADAM21 ENST00000267499 human ensembl 70_37 +1 known missense c.1805 p.S602C 0.206 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich 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 70713328 70713328 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 70713328 70713328 C A SNP ADAM21P1 ENST00000530196 human ensembl 70_37 -1 known rna NULL NULL 0.644 - - - no_errors ADAM21P1 HGNC ADAM3A 1587 genome.wustl.edu 37 8 39380346 39380346 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 39380346 39380346 C T SNP ADAM3A ENST00000460383 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ADAM3A HGNC ADAM7 8756 genome.wustl.edu 37 8 24321394 24321394 + Splice_Site SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 24321394 24321394 G A SNP ADAM7 ENST00000175238 human ensembl 70_37 +1 known splice_site c.234-1 e4-1 0.997 - - - no_errors ADAM7 HGNC ADAMTS19 171019 genome.wustl.edu 37 5 128983517 128983517 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 128983517 128983517 G A SNP ADAMTS19 ENST00000274487 human ensembl 70_37 +1 known silent c.1914 p.E638 0.995 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,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 ADAMTS19 HGNC ADAMTSL3 57188 genome.wustl.edu 37 15 84652068 84652068 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 84652068 84652068 G A SNP ADAMTSL3 ENST00000286744 human ensembl 70_37 +1 known missense c.3688 p.D1230N 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like 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 ADAMTSL4 54507 genome.wustl.edu 37 1 150525585 150525585 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 150525585 150525585 C T SNP ADAMTSL4 ENST00000369039 human ensembl 70_37 +1 known missense c.290 p.P97L 0.001 smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ADCK3 56997 genome.wustl.edu 37 1 227171315 227171315 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 227171315 227171315 G C SNP ADCK3 ENST00000366777 human ensembl 70_37 +1 known missense c.1143 p.M381I 1.000 pfam_UbiB_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK3 HGNC ADCY10 55811 genome.wustl.edu 37 1 167825584 167825584 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 167825584 167825584 G C SNP ADCY10 ENST00000367851 human ensembl 70_37 -1 known missense c.1990 p.L664V 0.000 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 123010071 123010071 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 123010071 123010071 G C SNP ADCY5 ENST00000462833 human ensembl 70_37 -1 known silent c.3216 p.V1072 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 AFAP1 60312 genome.wustl.edu 37 4 7787927 7787927 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 7787927 7787927 G A SNP AFAP1 ENST00000420658 human ensembl 70_37 -1 known silent c.1524 p.N508 0.997 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC AFP 174 genome.wustl.edu 37 4 74321433 74321433 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 74321433 74321433 G A SNP AFP ENST00000506820 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors AFP HGNC AGRN 375790 genome.wustl.edu 37 1 981451 981451 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 981451 981451 G A SNP AGRN ENST00000379370 human ensembl 70_37 +1 known missense c.2788 p.E930K 0.996 pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_FacI_MAC,smart_EG-like_dom,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 AIM1 202 genome.wustl.edu 37 6 106968381 106968381 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 106968381 106968381 G A SNP AIM1 ENST00000369066 human ensembl 70_37 +1 known missense c.2074 p.D692N 0.999 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 AIM1 HGNC AIM1 202 genome.wustl.edu 37 6 106968393 106968393 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 106968393 106968393 G A SNP AIM1 ENST00000369066 human ensembl 70_37 +1 known missense c.2086 p.D696N 1.000 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 AIM1 HGNC AK5 26289 genome.wustl.edu 37 1 78024354 78024354 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 78024354 78024354 G A SNP AK5 ENST00000354567 human ensembl 70_37 +1 known silent c.1688 p.*563 1.000 NULL pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1 - no_errors AK5 HGNC AK7 122481 genome.wustl.edu 37 14 96864562 96864562 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 96864562 96864562 G C SNP AK7 ENST00000267584 human ensembl 70_37 +1 known missense c.256 p.D86H 0.001 NULL pfam_Dpy-30_motif,pfam_Adenylate_kin - no_errors AK7 HGNC AK8 158067 genome.wustl.edu 37 9 135703409 135703409 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 135703409 135703409 G C SNP AK8 ENST00000298545 human ensembl 70_37 -1 known missense c.547 p.Q183E 0.003 pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom pfam_Adenylate_kin,superfamily_Adenylate_kinase_lid-dom,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin - no_errors AK8 HGNC AKAP12 9590 genome.wustl.edu 37 6 151672053 151672053 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 151672053 151672053 G A SNP AKAP12 ENST00000253332 human ensembl 70_37 +1 known missense c.2527 p.V843I 0.943 NULL pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1 - no_errors AKAP12 HGNC AKAP13 11214 genome.wustl.edu 37 15 86118455 86118455 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 86118455 86118455 C G SNP AKAP13 ENST00000361243 human ensembl 70_37 +1 known missense c.756 p.I252M 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC AKAP4 8852 genome.wustl.edu 37 X 49957243 49957243 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 49957243 49957243 G C SNP AKAP4 ENST00000358526 human ensembl 70_37 -1 known silent c.2121 p.L707 0.987 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC AKAP6 9472 genome.wustl.edu 37 14 33291487 33291487 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 33291487 33291487 G C SNP AKAP6 ENST00000280979 human ensembl 70_37 +1 known missense c.4468 p.E1490Q 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ALDOA 226 genome.wustl.edu 37 16 30077131 30077131 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 30077131 30077131 C T SNP ALDOA ENST00000566012 human ensembl 70_37 +1 known rna NULL NULL 0.791 - - - no_errors ALDOA HGNC ALG13 79868 genome.wustl.edu 37 X 110970137 110970137 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 110970137 110970137 C T SNP ALG13 ENST00000251943 human ensembl 70_37 +1 known silent c.1518 p.L506 0.000 NULL pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ALKBH8 91801 genome.wustl.edu 37 11 107393059 107393059 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 107393059 107393059 C T SNP ALKBH8 ENST00000417449 human ensembl 70_37 -1 known missense c.1262 p.G421E 1.000 pfam_Methyltransf_11,pfam_Methyltransferase-rel pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel - no_errors ALKBH8 HGNC ALS2CR11 151254 genome.wustl.edu 37 2 202410322 202410322 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 202410322 202410322 G C SNP ALS2CR11 ENST00000286195 human ensembl 70_37 -1 known missense c.1106 p.S369C 0.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors ALS2CR11 HGNC AMN1 196394 genome.wustl.edu 37 12 31882028 31882028 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 31882028 31882028 G A SNP AMN1 ENST00000509386 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors AMN1 HGNC ANGPT1 284 genome.wustl.edu 37 8 108509553 108509553 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 108509553 108509553 G C SNP ANGPT1 ENST00000517746 human ensembl 70_37 -1 known missense c.234 p.F78L 1.000 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors ANGPT1 HGNC ANK2 287 genome.wustl.edu 37 4 114170951 114170951 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 114170951 114170951 G A SNP ANK2 ENST00000357077 human ensembl 70_37 +1 known missense c.923 p.R308Q 0.695 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom 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 ANK2 HGNC ANK3 288 genome.wustl.edu 37 10 61926591 61926591 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 61926591 61926591 C G SNP ANK3 ENST00000280772 human ensembl 70_37 -1 known missense c.2542 p.D848H 0.999 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 ANKHD1 54882 genome.wustl.edu 37 5 139815719 139815719 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 139815719 139815719 C G SNP ANKHD1 ENST00000297183 human ensembl 70_37 +1 known missense c.337 p.L113V 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 ANKRD30BL 554226 genome.wustl.edu 37 2 132905499 132905499 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 132905499 132905499 G A SNP ANKRD30BL ENST00000465868 human ensembl 70_37 -1 known rna NULL NULL 0.357 - - - no_errors ANKRD30BL HGNC ANKRD54 129138 genome.wustl.edu 37 22 38227784 38227784 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 38227784 38227784 G C SNP ANKRD54 ENST00000498417 human ensembl 70_37 -1 known rna NULL NULL 0.337 - - - no_errors ANKRD54 HGNC ANKRD54 129138 genome.wustl.edu 37 22 38228006 38228006 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 38228006 38228006 G C SNP ANKRD54 ENST00000215941 human ensembl 70_37 -1 known missense c.847 p.L283V 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD54 HGNC ANKRD55 79722 genome.wustl.edu 37 5 55472045 55472045 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 55472045 55472045 C G SNP ANKRD55 ENST00000341048 human ensembl 70_37 -1 known missense c.246 p.K82N 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 - no_errors ANKRD55 HGNC ANKRD62 342850 genome.wustl.edu 37 18 12122443 12122443 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 18 12122443 12122443 C G SNP ANKRD62 ENST00000314074 human ensembl 70_37 +1 known missense c.1340 p.S447C 0.242 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD62 HGNC ANO2 57101 genome.wustl.edu 37 12 5672735 5672735 + Splice_Site SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 5672735 5672735 C G SNP ANO2 ENST00000356134 human ensembl 70_37 -1 known splice_site c.2731-1 e27-1 1.000 - - - no_errors ANO2 HGNC ANO6 196527 genome.wustl.edu 37 12 45725135 45725135 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 45725135 45725135 G C SNP ANO6 ENST00000425752 human ensembl 70_37 +1 known missense c.208 p.D70H 1.000 NULL pfam_Anoctamin - no_errors ANO6 HGNC ANXA13 312 genome.wustl.edu 37 8 124707800 124707800 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 124707800 124707800 G A SNP ANXA13 ENST00000262219 human ensembl 70_37 -1 known missense c.536 p.S179L 1.000 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII - no_errors ANXA13 HGNC ANXA3 306 genome.wustl.edu 37 4 79475635 79475635 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 79475635 79475635 C G SNP ANXA3 ENST00000264908 human ensembl 70_37 +1 known missense c.8 p.S3C 0.315 NULL pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIII - no_errors ANXA3 HGNC AOAH 313 genome.wustl.edu 37 7 36616224 36616224 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 36616224 36616224 C G SNP AOAH ENST00000258749 human ensembl 70_37 -1 known missense c.977 p.R326T 1.000 pfam_Lipase_GDSL,superfamily_Esterase_SGNH_hydro-type pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,superfamily_Esterase_SGNH_hydro-type,smart_SaposinB,pfscan_SaposinB - no_errors AOAH HGNC AOX2P 344454 genome.wustl.edu 37 2 201635338 201635338 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 201635338 201635338 G C SNP AOX2P ENST00000467645 human ensembl 70_37 +1 known rna NULL NULL 0.141 - - - no_errors AOX2P HGNC AP3M1 26985 genome.wustl.edu 37 10 75888905 75888905 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 75888905 75888905 C G SNP AP3M1 ENST00000355264 human ensembl 70_37 -1 known missense c.764 p.G255A 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,prints_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,prints_Clathrin_mu,pfscan_Clathrin_mu_C - no_errors AP3M1 HGNC AP3S2 10239 genome.wustl.edu 37 15 90437158 90437158 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 90437158 90437158 G C SNP AP3S2 ENST00000336418 human ensembl 70_37 -1 known missense c.24 p.F8L 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP3S2 HGNC APBB1IP 54518 genome.wustl.edu 37 10 26785257 26785257 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 26785257 26785257 C T SNP APBB1IP ENST00000376236 human ensembl 70_37 +1 known missense c.97 p.P33S 1.000 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc - no_errors APBB1IP HGNC APOB 338 genome.wustl.edu 37 2 21249674 21249674 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 21249674 21249674 C T SNP APOB ENST00000233242 human ensembl 70_37 -1 known missense c.2230 p.D744N 0.008 pfam_Vitellinogen_open_b-sht,superfamily_Lipid_transp_b-sht_shell 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 APOF 319 genome.wustl.edu 37 12 56755476 56755476 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 56755476 56755476 C G SNP APOF ENST00000398189 human ensembl 70_37 -1 known missense c.514 p.E172Q 0.875 NULL NULL - no_errors APOF HGNC APPBP2 10513 genome.wustl.edu 37 17 58539130 58539130 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 58539130 58539130 C G SNP APPBP2 ENST00000592995 human ensembl 70_37 -1 known rna NULL NULL 0.960 - - - no_errors APPBP2 HGNC APPBP2 10513 genome.wustl.edu 37 17 58603319 58603319 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 58603319 58603319 C T SNP APPBP2 ENST00000590244 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors APPBP2 HGNC AQP7 364 genome.wustl.edu 37 9 33385029 33385029 + Nonsense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 33385029 33385029 C A SNP AQP7 ENST00000297988 human ensembl 70_37 -1 known nonsense c.1003 p.E335* 0.003 NULL pfam_MIP,superfamily_Aquaporin-like,prints_MIP,prints_Aquaporin_3,tigrfam_MIP - no_errors AQP7 HGNC ARHGAP23 57636 genome.wustl.edu 37 17 36619412 36619412 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 36619412 36619412 C T SNP ARHGAP23 ENST00000431231 human ensembl 70_37 +1 known nonsense c.403 p.Q135* 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP23 HGNC ARHGAP42 143872 genome.wustl.edu 37 11 100792321 100792321 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 100792321 100792321 G A SNP ARHGAP42 ENST00000298815 human ensembl 70_37 +1 known missense c.583 p.E195K 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP42 HGNC ARHGEF1 9138 genome.wustl.edu 37 19 42411341 42411341 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 42411341 42411341 G A SNP ARHGEF1 ENST00000378152 human ensembl 70_37 +1 putative missense c.2623 p.E875K 0.622 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ARHGEF11 9826 genome.wustl.edu 37 1 156921453 156921453 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 156921453 156921453 C G SNP ARHGEF11 ENST00000368194 human ensembl 70_37 -1 known missense c.1837 p.E613Q 1.000 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ARHGEF19 128272 genome.wustl.edu 37 1 16535523 16535523 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 16535523 16535523 G C SNP ARHGEF19 ENST00000270747 human ensembl 70_37 -1 known silent c.27 p.L9 1.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF19 HGNC ARHGEF37 389337 genome.wustl.edu 37 5 148977374 148977374 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 148977374 148977374 G A SNP ARHGEF37 ENST00000333677 human ensembl 70_37 +1 known silent c.42 p.G14 0.008 superfamily_DH-domain pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF37 HGNC ARHGEF39 84904 genome.wustl.edu 37 9 35662192 35662192 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 35662192 35662192 G A SNP ARHGEF39 ENST00000378387 human ensembl 70_37 -1 known silent c.976 p.L326 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF39 HGNC ARID1A 8289 genome.wustl.edu 37 1 27094341 27094341 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 27094341 27094341 G A SNP ARID1A ENST00000324856 human ensembl 70_37 +1 known missense c.3049 p.E1017K 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd 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 ARID4A 5926 genome.wustl.edu 37 14 58838696 58838696 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 58838696 58838696 G C SNP ARID4A ENST00000355431 human ensembl 70_37 +1 known missense c.3763 p.E1255Q 1.000 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 ARID4B 51742 genome.wustl.edu 37 1 235423998 235423998 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 235423998 235423998 C T SNP ARID4B ENST00000264183 human ensembl 70_37 -1 known missense c.76 p.E26K 1.000 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,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ARID5B 84159 genome.wustl.edu 37 10 63810655 63810655 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 63810655 63810655 C T SNP ARID5B ENST00000279873 human ensembl 70_37 +1 known missense c.742 p.L248F 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 ARL1 400 genome.wustl.edu 37 12 101801473 101801473 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 101801473 101801473 C T SNP ARL1 ENST00000549283 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ARL1 HGNC ARL13B 200894 genome.wustl.edu 37 3 93768272 93768272 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 93768272 93768272 G A SNP ARL13B ENST00000394222 human ensembl 70_37 +1 known silent c.1047 p.K349 1.000 NULL pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL13B HGNC ARL16 339231 genome.wustl.edu 37 17 79648864 79648864 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 79648864 79648864 G C SNP ARL16 ENST00000397498 human ensembl 70_37 -1 known missense c.468 p.I156M 0.725 pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1 - no_errors ARL16 HGNC ARL6IP5 10550 genome.wustl.edu 37 3 69134213 69134213 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 69134213 69134213 C G SNP ARL6IP5 ENST00000273258 human ensembl 70_37 +1 known missense c.15 p.I5M 0.835 pfam_Prenylated_rab_accept_PRA1 pfam_Prenylated_rab_accept_PRA1 - no_errors ARL6IP5 HGNC ARMCX2 9823 genome.wustl.edu 37 X 100911348 100911348 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 100911348 100911348 G C SNP ARMCX2 ENST00000328766 human ensembl 70_37 -1 known silent c.1227 p.L409 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMCX2 HGNC ARMCX3-AS1 100128574 genome.wustl.edu 37 X 100877981 100877981 + RNA SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 100877981 100877981 G T SNP ARMCX3-AS1 ENST00000454228 human ensembl 70_37 -1 known rna NULL NULL 0.016 - - - no_errors ARMCX3-AS1 HGNC ARMCX4 100131755 genome.wustl.edu 37 X 100748119 100748119 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 100748119 100748119 G A SNP ARMCX4 ENST00000423738 human ensembl 70_37 +1 putative missense c.4543 p.G1515R 0.007 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo - no_errors ARMCX4 HGNC ARMCX5 64860 genome.wustl.edu 37 X 101857527 101857527 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 101857527 101857527 G A SNP ARMCX5 ENST00000246174 human ensembl 70_37 +1 known missense c.458 p.R153K 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMCX5 HGNC ARPC1A 10552 genome.wustl.edu 37 7 98951620 98951620 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 98951620 98951620 G C SNP ARPC1A ENST00000262942 human ensembl 70_37 +1 known missense c.589 p.E197Q 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ARPC1A HGNC ASB2 51676 genome.wustl.edu 37 14 94417385 94417385 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 94417385 94417385 C G SNP ASB2 ENST00000315988 human ensembl 70_37 -1 known missense c.696 p.Q232H 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB2 HGNC ASNSD1 54529 genome.wustl.edu 37 2 190531167 190531167 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 190531167 190531167 G A SNP ASNSD1 ENST00000260952 human ensembl 70_37 +1 known silent c.309 p.K103 0.003 NULL pfam_Asn_synthase - no_errors ASNSD1 HGNC ASPM 259266 genome.wustl.edu 37 1 197115342 197115342 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 197115342 197115342 C T SNP ASPM ENST00000367409 human ensembl 70_37 -1 known missense c.226 p.E76K 0.000 NULL pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ASTN1 460 genome.wustl.edu 37 1 176999980 176999980 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 176999980 176999980 G C SNP ASTN1 ENST00000367654 human ensembl 70_37 -1 known missense c.974 p.S325C 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ATE1 11101 genome.wustl.edu 37 10 123549786 123549786 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 123549786 123549786 C T SNP ATE1 ENST00000224652 human ensembl 70_37 -1 known missense c.1276 p.D426N 1.000 pfam_Arg-tRNA-P_Trfase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk pfam_Arg-tRNA-P_Trfase_C,pfam_Arg_tRNA_PTrfase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk - no_errors ATE1 HGNC ATG12 9140 genome.wustl.edu 37 5 115177250 115177250 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 115177250 115177250 C G SNP ATG12 ENST00000274459 human ensembl 70_37 -1 known missense c.141 p.K47N 0.975 NULL pfam_Autophagy-rel_prot_12,pfam_Atg8_ubiquitin-like - no_errors ATG12 HGNC ATM 472 genome.wustl.edu 37 11 108199914 108199914 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 108199914 108199914 G C SNP ATM ENST00000278616 human ensembl 70_37 +1 known missense c.7256 p.R2419T 1.000 pfam_PIK-rel_kinase_FAT,superfamily_ARM-type_fold,pfscan_PIK_FAT 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 ATP12A 479 genome.wustl.edu 37 13 25266734 25266734 + Silent SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 25266734 25266734 C A SNP ATP12A ENST00000218548 human ensembl 70_37 +1 known silent c.1254 p.I418 1.000 pfam_Dehalogen-like_hydro,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,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 193210784 193210784 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 193210784 193210784 G C SNP ATP13A4 ENST00000342695 human ensembl 70_37 -1 known missense c.455 p.S152C 0.046 smart_ATPase_P-typ_cation-transptr_N,tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A4 HGNC ATP6V0A4 50617 genome.wustl.edu 37 7 138482973 138482973 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 138482973 138482973 G C SNP ATP6V0A4 ENST00000479909 human ensembl 70_37 -1 known rna NULL NULL 0.080 - - - no_errors ATP6V0A4 HGNC ATP8A2 51761 genome.wustl.edu 37 13 26501421 26501421 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 26501421 26501421 G C SNP ATP8A2 ENST00000491840 human ensembl 70_37 +1 known rna NULL NULL 0.006 - - - no_errors ATP8A2 HGNC ATRX 546 genome.wustl.edu 37 X 76891545 76891545 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 76891545 76891545 C G SNP ATRX ENST00000373344 human ensembl 70_37 -1 known silent c.4560 p.V1520 0.562 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ATRX 546 genome.wustl.edu 37 X 76938673 76938673 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 76938673 76938673 G A SNP ATRX ENST00000373344 human ensembl 70_37 -1 known missense c.2075 p.S692L 0.000 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC AWAT2 158835 genome.wustl.edu 37 X 69264293 69264293 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 69264293 69264293 G A SNP AWAT2 ENST00000276101 human ensembl 70_37 -1 known silent c.105 p.V35 0.036 NULL pfam_DAGAT - no_errors AWAT2 HGNC AXDND1 126859 genome.wustl.edu 37 1 179503992 179503992 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 179503992 179503992 G A SNP AXDND1 ENST00000367618 human ensembl 70_37 +1 known missense c.2926 p.E976K 0.000 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC B4GALNT3 283358 genome.wustl.edu 37 12 662716 662716 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 662716 662716 C G SNP B4GALNT3 ENST00000266383 human ensembl 70_37 +1 known missense c.1627 p.Q543E 0.004 NULL pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC B4GALNT3 283358 genome.wustl.edu 37 12 663003 663003 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 663003 663003 C T SNP B4GALNT3 ENST00000266383 human ensembl 70_37 +1 known silent c.1914 p.F638 1.000 NULL pfam_PA14,pfam_Chond_GalNAc,smart_PA14 - no_errors B4GALNT3 HGNC BAI3 577 genome.wustl.edu 37 6 69653776 69653776 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 69653776 69653776 G T SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known missense c.1085 p.G362V 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_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 BAI3 577 genome.wustl.edu 37 6 70040418 70040418 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 70040418 70040418 G A SNP BAI3 ENST00000370598 human ensembl 70_37 +1 known missense c.3056 p.G1019E 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib 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 BAIAP2-AS1 440465 genome.wustl.edu 37 17 79005113 79005113 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 79005113 79005113 C G SNP BAIAP2-AS1 ENST00000542745 human ensembl 70_37 -1 known rna NULL NULL 0.887 - - - no_errors BAIAP2-AS1 HGNC BARX1 56033 genome.wustl.edu 37 9 96715209 96715209 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 96715209 96715209 C T SNP BARX1 ENST00000253968 human ensembl 70_37 -1 known missense c.484 p.E162K 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif - no_errors BARX1 HGNC BAZ2B 29994 genome.wustl.edu 37 2 160181437 160181437 + Nonsense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 160181437 160181437 C A SNP BAZ2B ENST00000392783 human ensembl 70_37 -1 known nonsense c.6238 p.E2080* 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain 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 BBC3 27113 genome.wustl.edu 37 19 47725144 47725144 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 47725144 47725144 G A SNP BBC3 ENST00000439096 human ensembl 70_37 -1 known missense c.497 p.S166L 0.916 NULL NULL - no_errors BBC3 HGNC BBS9 27241 genome.wustl.edu 37 7 33296998 33296998 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 33296998 33296998 C G SNP BBS9 ENST00000242067 human ensembl 70_37 +1 known missense c.593 p.S198C 1.000 NULL NULL - no_errors BBS9 HGNC BDP1 55814 genome.wustl.edu 37 5 70808110 70808110 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 70808110 70808110 G C SNP BDP1 ENST00000358731 human ensembl 70_37 +1 known missense c.4102 p.E1368Q 0.569 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC BEND7 222389 genome.wustl.edu 37 10 13534659 13534659 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 13534659 13534659 C G SNP BEND7 ENST00000396900 human ensembl 70_37 -1 known missense c.789 p.E263D 0.714 NULL pfam_BEN_domain - no_errors BEND7 HGNC BEST4 266675 genome.wustl.edu 37 1 45253357 45253357 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 45253357 45253357 G A SNP BEST4 ENST00000372207 human ensembl 70_37 -1 known silent c.21 p.L7 0.917 NULL pfam_Bestrophin/UPF0187 - no_errors BEST4 HGNC BHMT 635 genome.wustl.edu 37 5 78416249 78416249 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 78416249 78416249 G A SNP BHMT ENST00000274353 human ensembl 70_37 +1 known missense c.362 p.G121E 1.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT HGNC BMPR1A 657 genome.wustl.edu 37 10 88677071 88677071 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 88677071 88677071 G A SNP BMPR1A ENST00000224764 human ensembl 70_37 +1 known missense c.856 p.E286K 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_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors BMPR1A HGNC BMS1 9790 genome.wustl.edu 37 10 43294068 43294068 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 43294068 43294068 G C SNP BMS1 ENST00000374518 human ensembl 70_37 +1 known missense c.2242 p.E748Q 1.000 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,smart_AARP2CN - no_errors BMS1 HGNC BPI 671 genome.wustl.edu 37 20 36948573 36948573 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 36948573 36948573 C G SNP BPI ENST00000489039 human ensembl 70_37 +1 known rna NULL NULL 0.178 - - - no_errors BPI HGNC BRCA2 675 genome.wustl.edu 37 13 32914967 32914967 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 32914967 32914967 C T SNP BRCA2 ENST00000380152 human ensembl 70_37 +1 known nonsense c.6475 p.Q2159* 0.190 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 BRE 9577 genome.wustl.edu 37 2 28117528 28117528 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 28117528 28117528 G C SNP BRE ENST00000344773 human ensembl 70_37 +1 known missense c.105 p.L35F 1.000 pfam_Brain/reproduct-express_prot pfam_Brain/reproduct-express_prot - no_errors BRE HGNC BRF2 55290 genome.wustl.edu 37 8 37704661 37704661 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 37704661 37704661 G T SNP BRF2 ENST00000220659 human ensembl 70_37 -1 known missense c.247 p.L83M 0.999 superfamily_Cyclin-like pfam_Znf_TFIIB,superfamily_Cyclin-like,pfscan_Znf_TFIIB - no_errors BRF2 HGNC BRICD5 283870 genome.wustl.edu 37 16 2259503 2259503 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 2259503 2259503 C G SNP BRICD5 ENST00000562360 human ensembl 70_37 -1 known missense c.643 p.E215Q 0.000 NULL pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors BRICD5 HGNC BSG 682 genome.wustl.edu 37 19 577839 577839 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 577839 577839 G T SNP BSG ENST00000333511 human ensembl 70_37 +1 known nonsense c.133 p.E45* 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors BSG HGNC BST1 683 genome.wustl.edu 37 4 15704793 15704793 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 15704793 15704793 C G SNP BST1 ENST00000265016 human ensembl 70_37 +1 known missense c.26 p.S9W 0.000 NULL pfam_ADP-ribosyl_cyclase - no_errors BST1 HGNC C10orf112 340895 genome.wustl.edu 37 10 19636794 19636794 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 19636794 19636794 C A SNP C10orf112 ENST00000454679 human ensembl 70_37 +1 known missense c.1884 p.S628R 0.290 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_MAM_dom - no_errors C10orf112 HGNC C10orf112 340895 genome.wustl.edu 37 10 19884191 19884191 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 19884191 19884191 G A SNP C10orf112 ENST00000454679 human ensembl 70_37 +1 known missense c.3847 p.V1283I 0.278 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_MAM_dom - no_errors C10orf112 HGNC C10orf118 55088 genome.wustl.edu 37 10 115894805 115894805 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 115894805 115894805 G C SNP C10orf118 ENST00000369287 human ensembl 70_37 -1 known missense c.1522 p.L508V 1.000 NULL superfamily_Prefoldin - no_errors C10orf118 HGNC C10orf12 26148 genome.wustl.edu 37 10 98742023 98742023 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 98742023 98742023 G C SNP C10orf12 ENST00000286067 human ensembl 70_37 +1 known silent c.876 p.L292 0.000 NULL NULL - no_errors C10orf12 HGNC C10orf12 26148 genome.wustl.edu 37 10 98742703 98742703 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 98742703 98742703 G C SNP C10orf12 ENST00000286067 human ensembl 70_37 +1 known missense c.1556 p.R519T 0.142 NULL NULL - no_errors C10orf12 HGNC C10orf128 170371 genome.wustl.edu 37 10 50369632 50369632 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 50369632 50369632 C G SNP C10orf128 ENST00000374148 human ensembl 70_37 -1 known missense c.462 p.K154N 0.000 NULL NULL - no_errors C10orf128 HGNC C11orf21 29125 genome.wustl.edu 37 11 2320859 2320859 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 2320859 2320859 G C SNP C11orf21 ENST00000456145 human ensembl 70_37 -1 known missense c.364 p.H122D 0.001 NULL NULL - no_errors C11orf21 HGNC MYRF 745 genome.wustl.edu 37 11 61541448 61541448 + Silent SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 61541448 61541448 C A SNP C11orf9 ENST00000278836 human ensembl 70_37 +1 known silent c.1125 p.L375 1.000 superfamily_p53-like_TF_DNA-bd pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors C11orf9 HGNC C12orf77 196415 genome.wustl.edu 37 12 25149177 25149177 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 25149177 25149177 C G SNP C12orf77 ENST00000549828 human ensembl 70_37 -1 known missense c.100 p.D34H 1.000 NULL NULL - no_errors C12orf77 HGNC C17orf70 80233 genome.wustl.edu 37 17 79512804 79512804 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 79512804 79512804 C T SNP C17orf70 ENST00000327787 human ensembl 70_37 -1 known missense c.2278 p.D760N 0.587 NULL NULL - no_errors C17orf70 HGNC C17orf76-AS1 125144 genome.wustl.edu 37 17 16342592 16342592 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 16342592 16342592 C T SNP C17orf76-AS1 ENST00000470491 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C17orf76-AS1 HGNC C17orf98 388381 genome.wustl.edu 37 17 36997501 36997501 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 36997501 36997501 C G SNP C17orf98 ENST00000398575 human ensembl 70_37 -1 known missense c.142 p.D48H 1.000 NULL NULL - no_errors C17orf98 HGNC C19orf43 79002 genome.wustl.edu 37 19 12841840 12841840 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 12841840 12841840 C T SNP C19orf43 ENST00000242784 human ensembl 70_37 -1 known missense c.466 p.E156K 1.000 NULL NULL - no_errors C19orf43 HGNC C1orf222 85452 genome.wustl.edu 37 1 1895300 1895300 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 1895300 1895300 C G SNP C1orf222 ENST00000270720 human ensembl 70_37 -1 known missense c.1582 p.D528H 0.904 NULL NULL - no_errors C1orf222 HGNC C1orf85 112770 genome.wustl.edu 37 1 156263336 156263336 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 156263336 156263336 G A SNP C1orf85 ENST00000362007 human ensembl 70_37 -1 known missense c.830 p.S277L 0.000 NULL NULL - no_errors C1orf85 HGNC C20orf112 140688 genome.wustl.edu 37 20 31062436 31062436 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 31062436 31062436 C T SNP C20orf112 ENST00000359676 human ensembl 70_37 -1 known missense c.77 p.R26Q 1.000 NULL NULL - no_errors C20orf112 HGNC C20orf112 140688 genome.wustl.edu 37 20 31115566 31115566 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 31115566 31115566 G C SNP C20orf112 ENST00000201961 human ensembl 70_37 -1 known missense c.190 p.R64G 1.000 NULL NULL - no_errors C20orf112 HGNC C20orf194 25943 genome.wustl.edu 37 20 3233280 3233280 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 3233280 3233280 C G SNP C20orf194 ENST00000252032 human ensembl 70_37 -1 known missense c.3472 p.E1158Q 0.997 NULL NULL - no_errors C20orf194 HGNC C21orf33 8209 genome.wustl.edu 37 21 45561288 45561288 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 45561288 45561288 G C SNP C21orf33 ENST00000493883 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors C21orf33 HGNC C2orf15 150590 genome.wustl.edu 37 2 99767059 99767059 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 99767059 99767059 C G SNP C2orf15 ENST00000302513 human ensembl 70_37 +1 known missense c.140 p.S47C 0.796 NULL NULL - no_errors C2orf15 HGNC C2orf71 388939 genome.wustl.edu 37 2 29287839 29287839 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 29287839 29287839 C G SNP C2orf71 ENST00000331664 human ensembl 70_37 -1 novel missense c.3763 p.E1255Q 0.987 NULL NULL - no_errors C2orf71 HGNC C2orf81 388963 genome.wustl.edu 37 2 74642294 74642294 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 74642294 74642294 G C SNP C2orf81 ENST00000290390 human ensembl 70_37 -1 known missense c.929 p.S310C 0.003 NULL NULL - no_errors C2orf81 HGNC C2orf81 388963 genome.wustl.edu 37 2 74642323 74642323 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 74642323 74642323 G C SNP C2orf81 ENST00000290390 human ensembl 70_37 -1 known missense c.900 p.I300M 0.000 NULL NULL - no_errors C2orf81 HGNC C3orf52 79669 genome.wustl.edu 37 3 111835488 111835488 + Splice_Site SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 111835488 111835488 G C SNP C3orf52 ENST00000431717 human ensembl 70_37 +1 known splice_site c.397-1 e4-1 1.000 - - - no_errors C3orf52 HGNC C4orf21 55345 genome.wustl.edu 37 4 113474997 113474997 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 113474997 113474997 C T SNP C4orf21 ENST00000505019 human ensembl 70_37 -1 known silent c.5340 p.L1780 0.202 NULL pfam_DUF2439,pfam_Znf_GRF - no_errors C4orf21 HGNC C5orf56 441108 genome.wustl.edu 37 5 131796532 131796532 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 131796532 131796532 G A SNP C5orf56 ENST00000337752 human ensembl 70_37 +1 novel missense c.367 p.E123K 0.000 NULL NULL - no_errors C5orf56 HGNC C6orf141 135398 genome.wustl.edu 37 6 49518718 49518718 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 49518718 49518718 C T SNP C6orf141 ENST00000371194 human ensembl 70_37 +1 known silent c.213 p.L71 0.000 NULL NULL - no_errors C6orf141 HGNC C6orf223 221416 genome.wustl.edu 37 6 43970470 43970470 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 43970470 43970470 G A SNP C6orf223 ENST00000336600 human ensembl 70_37 +1 known silent c.336 p.R112 0.000 NULL NULL - no_errors C6orf223 HGNC SSMEM1 136263 genome.wustl.edu 37 7 129856149 129856149 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 129856149 129856149 C T SNP C7orf45 ENST00000297819 human ensembl 70_37 +1 known nonsense c.574 p.Q192* 0.117 NULL NULL - no_errors C7orf45 HGNC C8orf46 254778 genome.wustl.edu 37 8 67428140 67428140 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 67428140 67428140 C G SNP C8orf46 ENST00000522977 human ensembl 70_37 +1 novel missense c.391 p.Q131E 0.571 NULL NULL - no_errors C8orf46 HGNC C9orf114 51490 genome.wustl.edu 37 9 131591057 131591057 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 131591057 131591057 C G SNP C9orf114 ENST00000361256 human ensembl 70_37 -1 known missense c.165 p.K55N 0.904 NULL pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like - no_errors C9orf114 HGNC C9orf16 79095 genome.wustl.edu 37 9 130925201 130925201 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 130925201 130925201 C G SNP C9orf16 ENST00000492588 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors C9orf16 HGNC C9orf3 84909 genome.wustl.edu 37 9 97522144 97522144 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 97522144 97522144 G C SNP C9orf3 ENST00000375315 human ensembl 70_37 +1 known missense c.79 p.V27L 1.000 NULL pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC CAB39L 81617 genome.wustl.edu 37 13 49933878 49933878 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 49933878 49933878 G A SNP CAB39L ENST00000347776 human ensembl 70_37 -1 known missense c.367 p.P123S 1.000 pfam_Mo25,superfamily_ARM-type_fold pfam_Mo25,superfamily_ARM-type_fold - no_errors CAB39L HGNC CACNA1H 8912 genome.wustl.edu 37 16 1259400 1259400 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 1259400 1259400 C T SNP CACNA1H ENST00000348261 human ensembl 70_37 +1 known silent c.3732 p.D1244 0.356 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC CACNA1I 8911 genome.wustl.edu 37 22 40059831 40059831 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 40059831 40059831 C G SNP CACNA1I ENST00000336649 human ensembl 70_37 +1 known missense c.3600 p.I1200M 0.001 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC CAD 790 genome.wustl.edu 37 2 27457541 27457541 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 27457541 27457541 C T SNP CAD ENST00000264705 human ensembl 70_37 +1 known silent c.3774 p.V1258 0.598 tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf - no_errors CAD HGNC CADPS 8618 genome.wustl.edu 37 3 62860378 62860378 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 62860378 62860378 C G SNP CADPS ENST00000383710 human ensembl 70_37 -1 known missense c.327 p.Q109H 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 CALB2 794 genome.wustl.edu 37 16 71408656 71408656 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 71408656 71408656 G C SNP CALB2 ENST00000302628 human ensembl 70_37 +1 known missense c.180 p.K60N 1.000 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CALB2 HGNC CALCRL 10203 genome.wustl.edu 37 2 188225471 188225471 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 188225471 188225471 C A SNP CALCRL ENST00000392370 human ensembl 70_37 -1 known missense c.635 p.C212F 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-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_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_CGRP1_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt - no_errors CALCRL HGNC CALM2 805 genome.wustl.edu 37 2 47403565 47403565 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 47403565 47403565 C G SNP CALM2 ENST00000484408 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CALM2 HGNC CAMKK2 10645 genome.wustl.edu 37 12 121712275 121712275 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 121712275 121712275 C T SNP CAMKK2 ENST00000324774 human ensembl 70_37 -1 known missense c.55 p.E19K 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 CAMKK2 HGNC CAMSAP3 57662 genome.wustl.edu 37 19 7671380 7671380 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 7671380 7671380 G T SNP CAMSAP3 ENST00000446248 human ensembl 70_37 +1 known nonsense c.544 p.E182* 0.997 pfam_CH-domain pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC CAMTA1 23261 genome.wustl.edu 37 1 7724494 7724494 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 7724494 7724494 G C SNP CAMTA1 ENST00000303635 human ensembl 70_37 +1 known missense c.1887 p.Q629H 0.967 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC CAMTA1 23261 genome.wustl.edu 37 1 7724548 7724548 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 7724548 7724548 G A SNP CAMTA1 ENST00000303635 human ensembl 70_37 +1 known silent c.1941 p.V647 1.000 NULL pfam_CG-1_dom,pfam_IPT_TIG_rcpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC CAPN13 92291 genome.wustl.edu 37 2 30955386 30955386 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 30955386 30955386 C T SNP CAPN13 ENST00000295055 human ensembl 70_37 -1 known silent c.1845 p.V615 0.856 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC CAPZB 832 genome.wustl.edu 37 1 19683230 19683230 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 19683230 19683230 G A SNP CAPZB ENST00000433834 human ensembl 70_37 -1 known missense c.574 p.R192C 0.998 pfam_WASH_F-actin_cap_beta pfam_WASH_F-actin_cap_beta,prints_WASH_F-actin_cap_beta - no_errors CAPZB HGNC CASKIN2 57513 genome.wustl.edu 37 17 73501101 73501101 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 73501101 73501101 C G SNP CASKIN2 ENST00000321617 human ensembl 70_37 -1 known missense c.984 p.Q328H 0.998 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain 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 15164631 15164631 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 15164631 15164631 C T SNP CASP14 ENST00000221740 human ensembl 70_37 +1 known missense c.265 p.H89Y 0.642 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core 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 CASP5 838 genome.wustl.edu 37 11 104871140 104871140 + Missense_Mutation SNP T T C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 104871140 104871140 T C SNP CASP5 ENST00000393141 human ensembl 70_37 -1 known missense c.839 p.H280R 1.000 pfam_Pept_C14_cat,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core pfam_Pept_C14_cat,pfam_CARD,superfamily_DEATH-like,smart_CARD,smart_Pept_C14_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14_p45_core - no_errors CASP5 HGNC CATSPERB 79820 genome.wustl.edu 37 14 92185816 92185816 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 92185816 92185816 C T SNP CATSPERB ENST00000256343 human ensembl 70_37 -1 known missense c.316 p.D106N 0.855 NULL superfamily_Neuraminidase - no_errors CATSPERB HGNC CATSPERG 57828 genome.wustl.edu 37 19 38860841 38860841 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 38860841 38860841 C T SNP CATSPERG ENST00000409235 human ensembl 70_37 +1 known silent c.3156 p.F1052 0.362 NULL NULL - no_errors CATSPERG HGNC CAV2 858 genome.wustl.edu 37 7 116140195 116140195 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 116140195 116140195 G C SNP CAV2 ENST00000495841 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CAV2 HGNC CBFB 865 genome.wustl.edu 37 16 67100696 67100696 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 67100696 67100696 G T SNP CBFB ENST00000290858 human ensembl 70_37 +1 known missense c.394 p.A132S 1.000 pfam_CBF_beta,superfamily_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC CBLB 868 genome.wustl.edu 37 3 105377916 105377916 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 105377916 105377916 C T SNP CBLB ENST00000264122 human ensembl 70_37 -1 known silent c.2847 p.V949 0.997 pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBLB HGNC CCDC108 255101 genome.wustl.edu 37 2 219900337 219900337 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 219900337 219900337 C T SNP CCDC108 ENST00000341552 human ensembl 70_37 -1 known missense c.407 p.R136K 0.108 NULL superfamily_PapD-like,pfscan_Major_sperm - no_errors CCDC108 HGNC CCDC117 150275 genome.wustl.edu 37 22 29169750 29169750 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 29169750 29169750 G C SNP CCDC117 ENST00000249064 human ensembl 70_37 +1 known missense c.223 p.E75Q 1.000 NULL NULL - no_errors CCDC117 HGNC CCDC141 285025 genome.wustl.edu 37 2 179714787 179714787 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 179714787 179714787 C G SNP CCDC141 ENST00000420890 human ensembl 70_37 -1 known missense c.3346 p.E1116Q 1.000 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors CCDC141 HGNC CCDC149 91050 genome.wustl.edu 37 4 24810020 24810020 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 24810020 24810020 C G SNP CCDC149 ENST00000504487 human ensembl 70_37 -1 known silent c.1581 p.V527 0.152 NULL pfam_Coiled-coil_dom-contain_pr_149 - no_errors CCDC149 HGNC CCDC150 284992 genome.wustl.edu 37 2 197596820 197596820 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 197596820 197596820 G C SNP CCDC150 ENST00000389175 human ensembl 70_37 +1 known missense c.3133 p.E1045Q 0.998 NULL NULL - no_errors CCDC150 HGNC CCDC158 339965 genome.wustl.edu 37 4 77305711 77305711 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 77305711 77305711 G C SNP CCDC158 ENST00000388914 human ensembl 70_37 -1 known missense c.396 p.I132M 1.000 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC CCDC162P 221262 genome.wustl.edu 37 6 109630722 109630722 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 109630722 109630722 G C SNP CCDC162P ENST00000506861 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CCDC162P HGNC CCDC27 148870 genome.wustl.edu 37 1 3670736 3670736 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 3670736 3670736 C T SNP CCDC27 ENST00000294600 human ensembl 70_37 +1 known nonsense c.373 p.R125* 0.000 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC CCDC30 728621 genome.wustl.edu 37 1 43111938 43111938 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 43111938 43111938 G T SNP CCDC30 ENST00000340612 human ensembl 70_37 +1 known missense c.2023 p.D675Y 0.055 NULL NULL - no_errors CCDC30 HGNC CCDC39 339829 genome.wustl.edu 37 3 180381770 180381770 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 180381770 180381770 G C SNP CCDC39 ENST00000442201 human ensembl 70_37 -1 known nonsense c.95 p.S32* 0.895 superfamily_tRNA-bd_arm superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC CCDC50 152137 genome.wustl.edu 37 3 191075842 191075842 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 191075842 191075842 C G SNP CCDC50 ENST00000392456 human ensembl 70_37 +1 known silent c.168 p.L56 0.966 NULL NULL - no_errors CCDC50 HGNC CCDC74A 90557 genome.wustl.edu 37 2 132287646 132287646 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 132287646 132287646 G A SNP CCDC74A ENST00000467992 human ensembl 70_37 +1 known silent c.96 p.L32 0.013 NULL NULL - no_errors CCDC74A HGNC CCDC77 84318 genome.wustl.edu 37 12 527686 527686 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 527686 527686 G C SNP CCDC77 ENST00000239830 human ensembl 70_37 +1 known missense c.297 p.Q99H 1.000 NULL NULL - no_errors CCDC77 HGNC CCDC78 124093 genome.wustl.edu 37 16 772971 772971 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 772971 772971 C T SNP CCDC78 ENST00000293889 human ensembl 70_37 -1 known silent c.1248 p.L416 0.998 NULL NULL - no_errors CCDC78 HGNC CCDC87 55231 genome.wustl.edu 37 11 66358231 66358231 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 66358231 66358231 G A SNP CCDC87 ENST00000333861 human ensembl 70_37 -1 known silent c.2256 p.F752 0.434 pfam_MAP65_Ase1_PRC1 pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC CCDC87 55231 genome.wustl.edu 37 11 66358234 66358234 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 66358234 66358234 G A SNP CCDC87 ENST00000333861 human ensembl 70_37 -1 known silent c.2253 p.F751 1.000 pfam_MAP65_Ase1_PRC1 pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC CCDC87 55231 genome.wustl.edu 37 11 66358455 66358455 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 66358455 66358455 G T SNP CCDC87 ENST00000333861 human ensembl 70_37 -1 known missense c.2032 p.L678M 0.002 NULL pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC CCDC87 55231 genome.wustl.edu 37 11 66358496 66358496 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 66358496 66358496 C G SNP CCDC87 ENST00000333861 human ensembl 70_37 -1 known missense c.1991 p.G664A 0.000 NULL pfam_MAP65_Ase1_PRC1 - no_errors CCDC87 HGNC CCDC9 26093 genome.wustl.edu 37 19 47774924 47774924 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 47774924 47774924 G A SNP CCDC9 ENST00000221922 human ensembl 70_37 +1 known missense c.1585 p.E529K 0.879 NULL NULL - no_errors CCDC9 HGNC CCHCR1 54535 genome.wustl.edu 37 6 31125293 31125293 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 31125293 31125293 C T SNP CCHCR1 ENST00000396268 human ensembl 70_37 -1 known missense c.85 p.D29N 0.903 NULL pfam_HCR - no_errors CCHCR1 HGNC CCM2 83605 genome.wustl.edu 37 7 45104112 45104112 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 45104112 45104112 C T SNP CCM2 ENST00000381112 human ensembl 70_37 +1 known silent c.402 p.L134 1.000 pfscan_PTyr_interaction_dom pfscan_PTyr_interaction_dom - no_errors CCM2 HGNC CCM2 83605 genome.wustl.edu 37 7 45104163 45104163 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 45104163 45104163 C T SNP CCM2 ENST00000381112 human ensembl 70_37 +1 known silent c.453 p.I151 1.000 pfscan_PTyr_interaction_dom pfscan_PTyr_interaction_dom - no_errors CCM2 HGNC CCNA1 8900 genome.wustl.edu 37 13 37006087 37006087 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 37006087 37006087 G A SNP CCNA1 ENST00000463403 human ensembl 70_37 +1 known rna NULL NULL 0.002 - - - no_errors CCNA1 HGNC CCNG2 901 genome.wustl.edu 37 4 78082834 78082834 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 78082834 78082834 G A SNP CCNG2 ENST00000316355 human ensembl 70_37 +1 known silent c.639 p.L213 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNG2 HGNC CCRN4L 25819 genome.wustl.edu 37 4 139966404 139966404 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 139966404 139966404 G A SNP CCRN4L ENST00000280614 human ensembl 70_37 +1 known missense c.1072 p.E358K 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors CCRN4L HGNC CCT6P3 643180 genome.wustl.edu 37 7 64526697 64526697 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 64526697 64526697 G A SNP CCT6P3 ENST00000426828 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CCT6P3 HGNC CCT8 10694 genome.wustl.edu 37 21 30434718 30434718 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 30434718 30434718 C G SNP CCT8 ENST00000286788 human ensembl 70_37 -1 known missense c.1027 p.E343Q 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_theta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_theta - no_errors CCT8 HGNC CD109 135228 genome.wustl.edu 37 6 74477947 74477947 + Missense_Mutation SNP A A G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 74477947 74477947 A G SNP CD109 ENST00000287097 human ensembl 70_37 +1 known missense c.1667 p.K556R 1.000 pfam_A2M_N_2 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 CD1E 913 genome.wustl.edu 37 1 158325754 158325754 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 158325754 158325754 C T SNP CD1E ENST00000368167 human ensembl 70_37 +1 known nonsense c.763 p.Q255* 0.284 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1E HGNC CD2AP 23607 genome.wustl.edu 37 6 47577036 47577036 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 47577036 47577036 C G SNP CD2AP ENST00000359314 human ensembl 70_37 +1 known missense c.1810 p.H604D 1.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors CD2AP HGNC CD44 960 genome.wustl.edu 37 11 35227665 35227665 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 35227665 35227665 C T SNP CD44 ENST00000428726 human ensembl 70_37 +1 known missense c.1289 p.S430L 0.117 NULL pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link,prints_CD44_antigen,prints_Link - no_errors CD44 HGNC CD46 4179 genome.wustl.edu 37 1 207933081 207933081 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 207933081 207933081 C G SNP CD46 ENST00000469535 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors CD46 HGNC CD8A 925 genome.wustl.edu 37 2 87016516 87016516 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 87016516 87016516 G A SNP CD8A ENST00000538832 human ensembl 70_37 -1 known silent c.678 p.I226 1.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD8A HGNC CD97 976 genome.wustl.edu 37 19 14517945 14517945 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 14517945 14517945 C T SNP CD97 ENST00000242786 human ensembl 70_37 +1 known silent c.2280 p.F760 0.008 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt - no_errors CD97 HGNC CDC42BPG 55561 genome.wustl.edu 37 11 64594791 64594791 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 64594791 64594791 G T SNP CDC42BPG ENST00000342711 human ensembl 70_37 -1 known missense c.4230 p.F1410L 0.987 NULL pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_Pleckstrin_homology,superfamily_Kinase-like_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,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPG HGNC CDCA3 83461 genome.wustl.edu 37 12 6958094 6958094 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 6958094 6958094 G A SNP CDCA3 ENST00000544610 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors CDCA3 HGNC CDH18 1016 genome.wustl.edu 37 5 19473351 19473351 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 19473351 19473351 G A SNP CDH18 ENST00000274170 human ensembl 70_37 -1 known missense c.2357 p.S786F 1.000 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH18 HGNC CDHR2 54825 genome.wustl.edu 37 5 176017146 176017146 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 176017146 176017146 C T SNP CDHR2 ENST00000261944 human ensembl 70_37 +1 known missense c.3274 p.R1092W 0.073 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC CDK11B 984 genome.wustl.edu 37 1 1588857 1588857 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 1588857 1588857 C G SNP CDK11B ENST00000407249 human ensembl 70_37 -1 known missense c.79 p.E27Q 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 CDK11B HGNC CDK13 8621 genome.wustl.edu 37 7 40038973 40038973 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 40038973 40038973 C T SNP CDK13 ENST00000181839 human ensembl 70_37 +1 known missense c.2056 p.R686C 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 CDK13 HGNC CDK20 23552 genome.wustl.edu 37 9 90589419 90589419 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 90589419 90589419 C G SNP CDK20 ENST00000459720 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors CDK20 HGNC CDK5R2 8941 genome.wustl.edu 37 2 219825154 219825154 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 219825154 219825154 G C SNP CDK5R2 ENST00000302625 human ensembl 70_37 +1 known silent c.612 p.L204 1.000 pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator - no_errors CDK5R2 HGNC CDK5RAP2 55755 genome.wustl.edu 37 9 123253644 123253644 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 123253644 123253644 G C SNP CDK5RAP2 ENST00000349780 human ensembl 70_37 -1 known missense c.1423 p.Q475E 0.639 NULL pfam_Spindle_assoc - no_errors CDK5RAP2 HGNC CDK8 1024 genome.wustl.edu 37 13 26974624 26974624 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 26974624 26974624 G A SNP CDK8 ENST00000381527 human ensembl 70_37 +1 known missense c.968 p.R323Q 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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 CDK8 HGNC CDNF 441549 genome.wustl.edu 37 10 14879934 14879934 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 14879934 14879934 C T SNP CDNF ENST00000465530 human ensembl 70_37 -1 known silent c.12 p.A4 0.000 NULL pfam_Armet_prot - no_errors CDNF HGNC CEBPZ 10153 genome.wustl.edu 37 2 37458672 37458672 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 37458672 37458672 C T SNP CEBPZ ENST00000234170 human ensembl 70_37 -1 known silent c.39 p.K13 0.597 NULL pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors CEBPZ HGNC CENPK 64105 genome.wustl.edu 37 5 64814369 64814369 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 64814369 64814369 C T SNP CENPK ENST00000242872 human ensembl 70_37 -1 known missense c.743 p.R248H 1.000 pfam_Centromere_CenpK pfam_Centromere_CenpK,superfamily_Prefoldin - no_errors CENPK HGNC CEP164 22897 genome.wustl.edu 37 11 117265684 117265684 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 117265684 117265684 G C SNP CEP164 ENST00000278935 human ensembl 70_37 +1 known missense c.2809 p.D937H 0.803 NULL superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors CEP164 HGNC CEP70 80321 genome.wustl.edu 37 3 138256057 138256057 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 138256057 138256057 G A SNP CEP70 ENST00000264982 human ensembl 70_37 -1 known silent c.598 p.L200 0.986 NULL pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CEP70 HGNC CEP95 90799 genome.wustl.edu 37 17 62510458 62510458 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 62510458 62510458 G A SNP CEP95 ENST00000556440 human ensembl 70_37 +1 known missense c.349 p.E117K 1.000 NULL superfamily_CH-domain - no_errors CEP95 HGNC CERCAM 51148 genome.wustl.edu 37 9 131196417 131196417 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 131196417 131196417 G A SNP CERCAM ENST00000372838 human ensembl 70_37 +1 known missense c.1240 p.E414K 1.000 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors CERCAM HGNC CES1 1066 genome.wustl.edu 37 16 55844484 55844484 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 55844484 55844484 C G SNP CES1 ENST00000360526 human ensembl 70_37 -1 known missense c.1263 p.L421F 0.013 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC CHD4 1108 genome.wustl.edu 37 12 6687669 6687669 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 6687669 6687669 C T SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known silent c.5109 p.Q1703 1.000 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,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,superfamily_Homeodomain-like,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 CHD4 HGNC CHD4 1108 genome.wustl.edu 37 12 6687678 6687678 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 6687678 6687678 C T SNP CHD4 ENST00000309577 human ensembl 70_37 -1 known silent c.5100 p.V1700 0.980 NULL pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,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,superfamily_Homeodomain-like,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 CHD4 HGNC CHD5 26038 genome.wustl.edu 37 1 6169958 6169958 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 6169958 6169958 G C SNP CHD5 ENST00000262450 human ensembl 70_37 -1 known silent c.5475 p.L1825 1.000 pfam_CHD_C2 pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,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 CHD5 HGNC CHD6 84181 genome.wustl.edu 37 20 40111954 40111954 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 40111954 40111954 C T SNP CHD6 ENST00000373233 human ensembl 70_37 -1 known silent c.2463 p.Q821 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD6 HGNC CHD9 80205 genome.wustl.edu 37 16 53283964 53283964 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 53283964 53283964 C G SNP CHD9 ENST00000398510 human ensembl 70_37 +1 known missense c.3847 p.Q1283E 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC CHIAP2 149620 genome.wustl.edu 37 1 111822697 111822697 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 111822697 111822697 C G SNP CHIAP2 ENST00000369743 human ensembl 70_37 +1 known rna NULL NULL 0.685 - - - no_errors CHIAP2 HGNC CHIAP2 149620 genome.wustl.edu 37 1 111828615 111828615 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 111828615 111828615 G A SNP CHIAP2 ENST00000369743 human ensembl 70_37 +1 known rna NULL NULL 0.981 - - - no_errors CHIAP2 HGNC CHL1 10752 genome.wustl.edu 37 3 369956 369956 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 369956 369956 C T SNP CHL1 ENST00000256509 human ensembl 70_37 +1 known missense c.304 p.H102Y 0.970 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CHL1 HGNC CHL1 10752 genome.wustl.edu 37 3 384667 384667 + Nonsense_Mutation SNP T T G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 384667 384667 T G SNP CHL1 ENST00000256509 human ensembl 70_37 +1 known nonsense c.680 p.L227* 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 CHL1 HGNC CHMP6 79643 genome.wustl.edu 37 17 78972194 78972194 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 78972194 78972194 C T SNP CHMP6 ENST00000325167 human ensembl 70_37 +1 known missense c.524 p.S175F 0.113 pfam_Snf7 pfam_Snf7 - no_errors CHMP6 HGNC CHRM2 1129 genome.wustl.edu 37 7 136700266 136700266 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 136700266 136700266 G C SNP CHRM2 ENST00000320658 human ensembl 70_37 +1 known missense c.654 p.K218N 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 CHRNB3 1142 genome.wustl.edu 37 8 42585773 42585773 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 42585773 42585773 G A SNP CHRNB3 ENST00000289957 human ensembl 70_37 +1 known missense c.286 p.D96N 0.998 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_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC CHST5 23563 genome.wustl.edu 37 16 75563052 75563052 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 75563052 75563052 C T SNP CHST5 ENST00000541075 human ensembl 70_37 -1 known missense c.1249 p.D417N 0.000 NULL pfam_Sulfotransferase_dom,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC CHSY3 337876 genome.wustl.edu 37 5 129241194 129241194 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 129241194 129241194 C T SNP CHSY3 ENST00000305031 human ensembl 70_37 +1 known silent c.672 p.I224 1.000 pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC CIDEB 27141 genome.wustl.edu 37 14 24775198 24775198 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 24775198 24775198 G C SNP CIDEB ENST00000258807 human ensembl 70_37 -1 known missense c.482 p.S161C 1.000 NULL pfam_CAD,smart_CAD,pfscan_CAD - no_errors CIDEB HGNC CIZ1 25792 genome.wustl.edu 37 9 130931159 130931159 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 130931159 130931159 C T SNP CIZ1 ENST00000476541 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CIZ1 HGNC CLK1 1195 genome.wustl.edu 37 2 201722520 201722520 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 201722520 201722520 G A SNP CLK1 ENST00000321356 human ensembl 70_37 -1 known silent c.753 p.F251 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 CLK1 HGNC CLSTN2 64084 genome.wustl.edu 37 3 140284961 140284961 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 140284961 140284961 G A SNP CLSTN2 ENST00000458420 human ensembl 70_37 +1 known missense c.2734 p.E912K 1.000 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC CLSTN3 9746 genome.wustl.edu 37 12 7290643 7290643 + Missense_Mutation SNP T T C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 7290643 7290643 T C SNP CLSTN3 ENST00000266546 human ensembl 70_37 +1 known missense c.1303 p.F435L 1.000 superfamily_ConA-like_lec_gl_sf pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN3 HGNC CLTCL1 8218 genome.wustl.edu 37 22 19230407 19230407 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 19230407 19230407 G C SNP CLTCL1 ENST00000263200 human ensembl 70_37 -1 known nonsense c.572 p.S191* 1.000 superfamily_Clathrin_H-chain_propeller_N,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 CLTCL1 HGNC CMIP 80790 genome.wustl.edu 37 16 81703846 81703846 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 81703846 81703846 C T SNP CMIP ENST00000537098 human ensembl 70_37 +1 known nonsense c.925 p.Q309* 1.000 NULL NULL - no_errors CMIP HGNC CNTN5 53942 genome.wustl.edu 37 11 99690326 99690326 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 99690326 99690326 G C SNP CNTN5 ENST00000279463 human ensembl 70_37 +1 known missense c.107 p.R36T 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 CNTN5 HGNC CNTRL 11064 genome.wustl.edu 37 9 123914769 123914769 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 123914769 123914769 G A SNP CNTRL ENST00000238341 human ensembl 70_37 +1 known missense c.3970 p.E1324K 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC COG4 25839 genome.wustl.edu 37 16 70557335 70557335 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 70557335 70557335 G A SNP COG4 ENST00000323786 human ensembl 70_37 -1 known missense c.112 p.R38C 1.000 NULL pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC COL11A1 1301 genome.wustl.edu 37 1 103348829 103348829 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 103348829 103348829 C T SNP COL11A1 ENST00000358392 human ensembl 70_37 -1 known missense c.4933 p.D1645N 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 COL24A1 255631 genome.wustl.edu 37 1 86361540 86361540 + Splice_Site SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 86361540 86361540 C A SNP COL24A1 ENST00000370571 human ensembl 70_37 -1 known splice_site c.2922+1 e31+1 1.000 - - - no_errors COL24A1 HGNC COL4A3 1285 genome.wustl.edu 37 2 228159698 228159698 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 228159698 228159698 G C SNP COL4A3 ENST00000396578 human ensembl 70_37 +1 known missense c.3437 p.G1146A 0.727 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC COL6A5 256076 genome.wustl.edu 37 3 130174321 130174321 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 130174321 130174321 G C SNP COL6A5 ENST00000265379 human ensembl 70_37 +1 known missense c.6601 p.D2201H 0.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC COL9A3 1299 genome.wustl.edu 37 20 61467602 61467602 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 61467602 61467602 C T SNP COL9A3 ENST00000343916 human ensembl 70_37 +1 known nonsense c.1465 p.Q489* 0.409 pfam_Collagen pfam_Collagen - no_errors COL9A3 HGNC CPEB4 80315 genome.wustl.edu 37 5 173317731 173317731 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 173317731 173317731 C T SNP CPEB4 ENST00000265085 human ensembl 70_37 +1 known missense c.995 p.S332L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB4 HGNC CPNE8 144402 genome.wustl.edu 37 12 39301163 39301163 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 39301163 39301163 G A SNP CPNE8 ENST00000360449 human ensembl 70_37 -1 putative missense c.20 p.S7L 0.000 NULL 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 CPNE8 HGNC CPQ 10404 genome.wustl.edu 37 8 97892112 97892112 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 97892112 97892112 C T SNP CPQ ENST00000220763 human ensembl 70_37 +1 known missense c.728 p.S243L 1.000 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors CPQ HGNC CPSF1 29894 genome.wustl.edu 37 8 145626076 145626076 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 145626076 145626076 C G SNP CPSF1 ENST00000349769 human ensembl 70_37 -1 known missense c.675 p.Q225H 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC CPT1A 1374 genome.wustl.edu 37 11 68522294 68522294 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 68522294 68522294 G C SNP CPT1A ENST00000376618 human ensembl 70_37 -1 known nonsense c.2261 p.S754* 0.000 NULL pfam_Carn_acyl_trans - no_errors CPT1A HGNC CPT1A 1374 genome.wustl.edu 37 11 68562339 68562339 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 68562339 68562339 C G SNP CPT1A ENST00000265641 human ensembl 70_37 -1 known missense c.812 p.R271T 0.888 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1A HGNC CPXM1 56265 genome.wustl.edu 37 20 2777944 2777944 + Silent SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 2777944 2777944 G T SNP CPXM1 ENST00000380605 human ensembl 70_37 -1 known silent c.726 p.L242 0.914 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_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM1 HGNC CREB3L4 148327 genome.wustl.edu 37 1 153946137 153946137 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 153946137 153946137 C T SNP CREB3L4 ENST00000271889 human ensembl 70_37 +1 known silent c.939 p.F313 1.000 NULL pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L4 HGNC CREG2 200407 genome.wustl.edu 37 2 102000165 102000165 + Splice_Site SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 102000165 102000165 C G SNP CREG2 ENST00000324768 human ensembl 70_37 -1 known splice_site c.442-1 e2-1 1.000 - - - no_errors CREG2 HGNC CRNN 49860 genome.wustl.edu 37 1 152382132 152382132 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 152382132 152382132 C T SNP CRNN ENST00000271835 human ensembl 70_37 -1 known missense c.1426 p.E476K 0.022 NULL pfam_S100_Ca-bd_sub,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CRNN HGNC CROCC 9696 genome.wustl.edu 37 1 17273258 17273258 + Silent SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 17273258 17273258 G T SNP CROCC ENST00000375541 human ensembl 70_37 +1 known silent c.2286 p.L762 0.998 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC CRTC1 23373 genome.wustl.edu 37 19 18857921 18857921 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 18857921 18857921 G A SNP CRTC1 ENST00000338797 human ensembl 70_37 +1 known missense c.488 p.R163K 1.000 NULL NULL - no_errors CRTC1 HGNC CRYBB2P1 1416 genome.wustl.edu 37 22 25855390 25855390 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 25855390 25855390 G A SNP CRYBB2P1 ENST00000354451 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors CRYBB2P1 HGNC CSAD 51380 genome.wustl.edu 37 12 53553493 53553493 + Nonsense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 53553493 53553493 C A SNP CSAD ENST00000267085 human ensembl 70_37 -1 known nonsense c.1303 p.E435* 0.996 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors CSAD HGNC CSF3R 1441 genome.wustl.edu 37 1 36932371 36932371 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 36932371 36932371 C G SNP CSF3R ENST00000373103 human ensembl 70_37 -1 known missense c.2179 p.E727Q 1.000 NULL pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC CSMD3 114788 genome.wustl.edu 37 8 113662455 113662455 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 113662455 113662455 C T SNP CSMD3 ENST00000297405 human ensembl 70_37 -1 known missense c.3128 p.S1043N 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 CSTF2T 23283 genome.wustl.edu 37 10 53459272 53459272 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 53459272 53459272 C G SNP CSTF2T ENST00000331173 human ensembl 70_37 -1 known missense c.38 p.R13P 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CSTF2T HGNC CT45A1 541466 genome.wustl.edu 37 X 134856890 134856890 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 134856890 134856890 G A SNP CT45A1 ENST00000482795 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors CT45A1 HGNC CTAGE5 4253 genome.wustl.edu 37 14 39736708 39736708 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 39736708 39736708 C T SNP CTAGE5 ENST00000396158 human ensembl 70_37 +1 known silent c.45 p.L15 0.963 NULL NULL - no_errors CTAGE5 HGNC CTNNA1 1495 genome.wustl.edu 37 5 138268317 138268317 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 138268317 138268317 C T SNP CTNNA1 ENST00000302763 human ensembl 70_37 +1 known silent c.2349 p.I783 0.992 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC CTNNB1 1499 genome.wustl.edu 37 3 41266113 41266113 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 41266113 41266113 C G SNP CTNNB1 ENST00000349496 human ensembl 70_37 +1 known missense c.110 p.S37C 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC CTNNB1 1499 genome.wustl.edu 37 3 41277973 41277973 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 41277973 41277973 C G SNP CTNNB1 ENST00000349496 human ensembl 70_37 +1 known missense c.1937 p.S646C 0.999 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC CUBN 8029 genome.wustl.edu 37 10 16967336 16967336 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 16967336 16967336 G C SNP CUBN ENST00000377833 human ensembl 70_37 -1 known missense c.6550 p.L2184V 0.242 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 CXCL3 2921 genome.wustl.edu 37 4 74903836 74903836 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 74903836 74903836 C T SNP CXCL3 ENST00000296026 human ensembl 70_37 -1 known silent c.282 p.Q94 0.824 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXCL8/IL8,prints_Chemokine_CXC - no_errors CXCL3 HGNC CXorf66 347487 genome.wustl.edu 37 X 139038520 139038520 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 139038520 139038520 G C SNP CXorf66 ENST00000370540 human ensembl 70_37 -1 known silent c.621 p.V207 0.000 NULL NULL - no_errors CXorf66 HGNC CYP11B1 1584 genome.wustl.edu 37 8 143961221 143961221 + Silent SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 143961221 143961221 G T SNP CYP11B1 ENST00000292427 human ensembl 70_37 -1 known silent c.9 p.L3 0.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B,prints_Cyt_P450 - no_errors CYP11B1 HGNC CYP39A1 51302 genome.wustl.edu 37 6 46605600 46605600 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 46605600 46605600 C G SNP CYP39A1 ENST00000275016 human ensembl 70_37 -1 known missense c.604 p.E202Q 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP39A1 HGNC CYP4F12 66002 genome.wustl.edu 37 19 15807267 15807267 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 15807267 15807267 G C SNP CYP4F12 ENST00000324632 human ensembl 70_37 +1 known missense c.1342 p.E448Q 1.000 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 CYP4F12 HGNC CYTIP 9595 genome.wustl.edu 37 2 158272376 158272376 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 158272376 158272376 G A SNP CYTIP ENST00000264192 human ensembl 70_37 -1 known missense c.893 p.S298F 0.958 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors CYTIP HGNC DAAM1 23002 genome.wustl.edu 37 14 59789812 59789812 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 59789812 59789812 G C SNP DAAM1 ENST00000351081 human ensembl 70_37 +1 known missense c.643 p.E215Q 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM1 HGNC DACH2 117154 genome.wustl.edu 37 X 86067873 86067873 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 86067873 86067873 C G SNP DACH2 ENST00000373125 human ensembl 70_37 +1 known missense c.1255 p.Q419E 0.970 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC DAG1 1605 genome.wustl.edu 37 3 49568587 49568587 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 49568587 49568587 C T SNP DAG1 ENST00000308775 human ensembl 70_37 +1 known missense c.643 p.R215W 0.991 NULL pfam_DAG1,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC DAGLA 747 genome.wustl.edu 37 11 61491027 61491027 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 61491027 61491027 G A SNP DAGLA ENST00000257215 human ensembl 70_37 +1 known silent c.531 p.L177 0.998 NULL pfam_Lipase_3 - no_errors DAGLA HGNC DBF4B 80174 genome.wustl.edu 37 17 42807339 42807339 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 42807339 42807339 G A SNP DBF4B ENST00000315005 human ensembl 70_37 +1 known missense c.292 p.E98K 0.998 NULL pfam_Znf_DBF,superfamily_BRCT_dom,smart_Znf_DBF - no_errors DBF4B HGNC DCAF7 10238 genome.wustl.edu 37 17 61666384 61666384 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 61666384 61666384 C T SNP DCAF7 ENST00000310827 human ensembl 70_37 +1 known silent c.879 p.I293 1.000 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 DCAF7 HGNC DCBLD2 131566 genome.wustl.edu 37 3 98520480 98520480 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 98520480 98520480 C T SNP DCBLD2 ENST00000326857 human ensembl 70_37 -1 known missense c.1684 p.E562K 0.998 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_LCCL,smart_CUB,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC DCDC2B 149069 genome.wustl.edu 37 1 32678163 32678163 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 32678163 32678163 C T SNP DCDC2B ENST00000409358 human ensembl 70_37 +1 known silent c.600 p.V200 0.498 pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors DCDC2B HGNC DCHS1 8642 genome.wustl.edu 37 11 6644960 6644960 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 6644960 6644960 G C SNP DCHS1 ENST00000299441 human ensembl 70_37 -1 known silent c.7947 p.L2649 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC DDX19A 55308 genome.wustl.edu 37 16 70405280 70405280 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 70405280 70405280 G C SNP DDX19A ENST00000302243 human ensembl 70_37 +1 known missense c.1189 p.D397H 1.000 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 DDX19A HGNC DDX20 11218 genome.wustl.edu 37 1 112303170 112303170 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 112303170 112303170 G C SNP DDX20 ENST00000369702 human ensembl 70_37 +1 known missense c.640 p.D214H 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd 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 DDX20 HGNC DDX21 9188 genome.wustl.edu 37 10 70738685 70738685 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 70738685 70738685 G C SNP DDX21 ENST00000354185 human ensembl 70_37 +1 known missense c.1990 p.E664Q 0.992 pfam_GUCT pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX21 HGNC DDX27 55661 genome.wustl.edu 37 20 47860346 47860346 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 47860346 47860346 C T SNP DDX27 ENST00000471144 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors DDX27 HGNC DDX28 55794 genome.wustl.edu 37 16 68057079 68057079 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 68057079 68057079 G C SNP DDX28 ENST00000332395 human ensembl 70_37 -1 known silent c.27 p.L9 0.000 NULL 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 DDX54 79039 genome.wustl.edu 37 12 113618744 113618744 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 113618744 113618744 G A SNP DDX54 ENST00000314045 human ensembl 70_37 -1 known silent c.294 p.F98 1.000 pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC DEFB114 245928 genome.wustl.edu 37 6 49928006 49928006 + Nonstop_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 49928006 49928006 C G SNP DEFB114 ENST00000322066 human ensembl 70_37 -1 known nonstop c.209 p.*70S 0.018 NULL NULL - no_errors DEFB114 HGNC DENND4C 55667 genome.wustl.edu 37 9 19300283 19300283 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 19300283 19300283 C T SNP DENND4C ENST00000380437 human ensembl 70_37 +1 known missense c.557 p.S186F 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom 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 DENND4C 55667 genome.wustl.edu 37 9 19336796 19336796 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 19336796 19336796 C T SNP DENND4C ENST00000307015 human ensembl 70_37 +1 known silent c.420 p.I140 1.000 NULL NULL - no_errors DENND4C HGNC DESI2 51029 genome.wustl.edu 37 1 244852595 244852595 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 244852595 244852595 G A SNP DESI2 ENST00000302550 human ensembl 70_37 +1 known missense c.160 p.E54K 1.000 pfam_DUF862_euk pfam_DUF862_euk - no_errors DESI2 HGNC DFNB31 25861 genome.wustl.edu 37 9 117165054 117165054 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 117165054 117165054 C G SNP DFNB31 ENST00000362057 human ensembl 70_37 -1 known missense c.2704 p.E902Q 1.000 superfamily_PDZ,smart_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC DFNB31 25861 genome.wustl.edu 37 9 117165217 117165217 + Splice_Site SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 117165217 117165217 C T SNP DFNB31 ENST00000362057 human ensembl 70_37 -1 known splice_site c.2542-1 e12-1 1.000 - - - no_errors DFNB31 HGNC DFNB31 25861 genome.wustl.edu 37 9 117165578 117165578 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 117165578 117165578 C T SNP DFNB31 ENST00000362057 human ensembl 70_37 -1 known silent c.2460 p.K820 0.989 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC DFNB31 25861 genome.wustl.edu 37 9 117240927 117240927 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 117240927 117240927 G A SNP DFNB31 ENST00000362057 human ensembl 70_37 -1 known missense c.743 p.S248L 0.002 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC DGKG 1608 genome.wustl.edu 37 3 185986688 185986688 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 185986688 185986688 C A SNP DGKG ENST00000265022 human ensembl 70_37 -1 known missense c.1018 p.V340L 1.000 smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKG HGNC DHRS9 10170 genome.wustl.edu 37 2 169952147 169952147 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 169952147 169952147 C G SNP DHRS9 ENST00000432060 human ensembl 70_37 +1 known missense c.1010 p.P337R 1.000 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC DHX29 54505 genome.wustl.edu 37 5 54591326 54591326 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 54591326 54591326 C T SNP DHX29 ENST00000251636 human ensembl 70_37 -1 known missense c.532 p.E178K 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX29 HGNC DHX32 55760 genome.wustl.edu 37 10 127529516 127529516 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 127529516 127529516 C G SNP DHX32 ENST00000284690 human ensembl 70_37 -1 known missense c.1593 p.L531F 0.007 pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_DUF1605,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC DIDO1 11083 genome.wustl.edu 37 20 61526236 61526236 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 61526236 61526236 C T SNP DIDO1 ENST00000266070 human ensembl 70_37 -1 known missense c.2362 p.E788K 0.946 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC DIP2A 23181 genome.wustl.edu 37 21 47987458 47987458 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 47987458 47987458 G A SNP DIP2A ENST00000318711 human ensembl 70_37 +1 known missense c.4642 p.E1548K 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC DIP2C 22982 genome.wustl.edu 37 10 402355 402355 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 402355 402355 C G SNP DIP2C ENST00000540204 human ensembl 70_37 -1 known missense c.959 p.G320A 0.000 NULL pfam_AMP-dep_Synth/Lig - no_errors DIP2C HGNC DIRC2 84925 genome.wustl.edu 37 3 122545852 122545852 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 122545852 122545852 C T SNP DIRC2 ENST00000261038 human ensembl 70_37 +1 known missense c.643 p.L215F 0.814 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors DIRC2 HGNC DLEC1 9940 genome.wustl.edu 37 3 38136487 38136487 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 38136487 38136487 C A SNP DLEC1 ENST00000346219 human ensembl 70_37 +1 known missense c.2037 p.F679L 0.999 NULL superfamily_PapD-like - no_errors DLEC1 HGNC DLEC1 9940 genome.wustl.edu 37 3 38136538 38136538 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 38136538 38136538 C T SNP DLEC1 ENST00000346219 human ensembl 70_37 +1 known silent c.2088 p.F696 1.000 NULL superfamily_PapD-like - no_errors DLEC1 HGNC DLG5 9231 genome.wustl.edu 37 10 79569395 79569395 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 79569395 79569395 C G SNP DLG5 ENST00000372391 human ensembl 70_37 -1 known silent c.4557 p.G1519 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG5 HGNC DMBT1 1755 genome.wustl.edu 37 10 124390767 124390767 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 124390767 124390767 C T SNP DMBT1 ENST00000368915 human ensembl 70_37 +1 known missense c.6316 p.H2106Y 1.000 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_ZP_dom,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_ZP_dom,prints_Srcr_rcpt - no_errors DMBT1 HGNC DNAAF2 55172 genome.wustl.edu 37 14 50101007 50101007 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 50101007 50101007 G A SNP DNAAF2 ENST00000298292 human ensembl 70_37 -1 known silent c.861 p.I287 1.000 pfam_PIH pfam_PIH - no_errors DNAAF2 HGNC DNAH1 25981 genome.wustl.edu 37 3 52397041 52397041 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 52397041 52397041 C G SNP DNAH1 ENST00000420323 human ensembl 70_37 +1 known missense c.5125 p.P1709A 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA - no_errors DNAH1 HGNC DNAH17 8632 genome.wustl.edu 37 17 76482068 76482068 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 76482068 76482068 C G SNP DNAH17 ENST00000389840 human ensembl 70_37 -1 known missense c.7207 p.E2403Q 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC DNAH2 146754 genome.wustl.edu 37 17 7695367 7695367 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 7695367 7695367 G A SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known missense c.7033 p.E2345K 1.000 NULL 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 DNAH2 146754 genome.wustl.edu 37 17 7721144 7721144 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 7721144 7721144 G C SNP DNAH2 ENST00000389173 human ensembl 70_37 +1 known silent c.10206 p.L3402 0.998 NULL 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 21156659 21156659 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 21156659 21156659 G A SNP DNAH3 ENST00000261383 human ensembl 70_37 -1 known silent c.291 p.F97 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC DNAI2 64446 genome.wustl.edu 37 17 72278037 72278037 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 72278037 72278037 G C SNP DNAI2 ENST00000311014 human ensembl 70_37 +1 known silent c.81 p.L27 1.000 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 72278137 72278137 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 72278137 72278137 G T SNP DNAI2 ENST00000311014 human ensembl 70_37 +1 known nonsense c.181 p.E61* 0.996 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 72283200 72283200 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 72283200 72283200 G C SNP DNAI2 ENST00000311014 human ensembl 70_37 +1 known missense c.430 p.E144Q 0.961 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC DNAJB5 25822 genome.wustl.edu 37 9 34997162 34997162 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 34997162 34997162 G A SNP DNAJB5 ENST00000454002 human ensembl 70_37 +1 known missense c.1169 p.R390Q 1.000 pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_N,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJB5 HGNC DNAJC11 55735 genome.wustl.edu 37 1 6694728 6694728 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 6694728 6694728 C T SNP DNAJC11 ENST00000349363 human ensembl 70_37 -1 known missense c.815 p.C272Y 0.000 NULL pfam_DnaJ_N,superfamily_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC11 HGNC DNMT1 1786 genome.wustl.edu 37 19 10254660 10254660 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 10254660 10254660 G C SNP DNMT1 ENST00000359526 human ensembl 70_37 -1 known missense c.2898 p.I966M 1.000 pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom 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 DOC2A 8448 genome.wustl.edu 37 16 30018395 30018395 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 30018395 30018395 G C SNP DOC2A ENST00000350119 human ensembl 70_37 -1 known missense c.671 p.S224C 0.965 superfamily_C2_Ca/lipid-bd_dom_CaLB,pirsf_Doc2 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pirsf_Doc2,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors DOC2A HGNC DOCK8 81704 genome.wustl.edu 37 9 304664 304664 + Missense_Mutation SNP T T A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 304664 304664 T A SNP DOCK8 ENST00000453981 human ensembl 70_37 +1 known missense c.488 p.F163Y 1.000 pfam_DOCK_C/D_N pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC DOCK9 23348 genome.wustl.edu 37 13 99540624 99540624 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 99540624 99540624 G C SNP DOCK9 ENST00000339416 human ensembl 70_37 -1 known missense c.1970 p.S657C 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 83868325 83868325 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 83868325 83868325 G A SNP DOPEY1 ENST00000349129 human ensembl 70_37 +1 known missense c.6781 p.D2261N 1.000 NULL pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC DPCD 25911 genome.wustl.edu 37 10 103368658 103368658 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 103368658 103368658 G A SNP DPCD ENST00000370151 human ensembl 70_37 +1 known silent c.471 p.L157 1.000 NULL NULL - no_errors DPCD HGNC DPF2 5977 genome.wustl.edu 37 11 65112088 65112088 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 65112088 65112088 G C SNP DPF2 ENST00000252268 human ensembl 70_37 +1 novel missense c.675 p.Q225H 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors DPF2 HGNC DPM2 8818 genome.wustl.edu 37 9 130698034 130698034 + Silent SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 130698034 130698034 C A SNP DPM2 ENST00000314392 human ensembl 70_37 -1 known silent c.222 p.L74 1.000 pfam_DPM2 pfam_DPM2 - no_errors DPM2 HGNC DRD1 1812 genome.wustl.edu 37 5 174869677 174869677 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 174869677 174869677 G A SNP DRD1 ENST00000329144 human ensembl 70_37 -1 known silent c.426 p.I142 0.965 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopa_1A_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_Adrnrgc_rcpt - no_errors DRD1 HGNC DSN1 79980 genome.wustl.edu 37 20 35390934 35390934 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 35390934 35390934 C T SNP DSN1 ENST00000373745 human ensembl 70_37 -1 known missense c.520 p.E174K 1.000 pfam_Mtw1_DSN1 pfam_Mtw1_DSN1 - no_errors DSN1 HGNC DSPP 1834 genome.wustl.edu 37 4 88536350 88536350 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 88536350 88536350 G A SNP DSPP ENST00000282478 human ensembl 70_37 +1 known missense c.2536 p.D846N 0.996 NULL NULL - no_errors DSPP HGNC DST 667 genome.wustl.edu 37 6 56324949 56324949 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 56324949 56324949 C G SNP DST ENST00000370754 human ensembl 70_37 -1 known missense c.22970 p.R7657T 0.995 NULL 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 56473210 56473210 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 56473210 56473210 G A SNP DST ENST00000370754 human ensembl 70_37 -1 known silent c.6117 p.L2039 1.000 pfam_Plectin_repeat,superfamily_ABC_transptrTM_dom_typ1,smart_Plectin_repeat 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 DTNB 1838 genome.wustl.edu 37 2 25655804 25655804 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 25655804 25655804 C G SNP DTNB ENST00000406818 human ensembl 70_37 -1 known missense c.1408 p.E470Q 1.000 pirsf_Distrobrevin pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNB HGNC DTX1 1840 genome.wustl.edu 37 12 113534597 113534597 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 113534597 113534597 G C SNP DTX1 ENST00000257600 human ensembl 70_37 +1 known silent c.1716 p.S572 0.636 NULL pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX1 HGNC DUSP16 80824 genome.wustl.edu 37 12 12672925 12672925 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 12672925 12672925 C G SNP DUSP16 ENST00000228862 human ensembl 70_37 -1 known missense c.238 p.D80H 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP16 HGNC DUSP5 1847 genome.wustl.edu 37 10 112262487 112262487 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 112262487 112262487 G C SNP DUSP5 ENST00000369583 human ensembl 70_37 +1 known missense c.388 p.E130Q 1.000 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,pfscan_Rhodanese-like_dom 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 DUSP5 HGNC DYNC2LI1 51626 genome.wustl.edu 37 2 44019873 44019873 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 44019873 44019873 C T SNP DYNC2LI1 ENST00000398823 human ensembl 70_37 +1 novel missense c.379 p.H127Y 0.004 NULL NULL - no_errors DYNC2LI1 HGNC E2F2 1870 genome.wustl.edu 37 1 23847437 23847437 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 23847437 23847437 G A SNP E2F2 ENST00000361729 human ensembl 70_37 -1 known silent c.705 p.F235 0.985 NULL pfam_E2F_TDP - no_errors E2F2 HGNC EBF2 64641 genome.wustl.edu 37 8 25718727 25718727 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 25718727 25718727 G A SNP EBF2 ENST00000520164 human ensembl 70_37 -1 known nonsense c.1180 p.R394* 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF2 HGNC ECSIT 51295 genome.wustl.edu 37 19 11617188 11617188 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 11617188 11617188 C T SNP ECSIT ENST00000270517 human ensembl 70_37 -1 known silent c.1107 p.T369 0.031 NULL pfam_ECSIT - no_errors ECSIT HGNC EDF1 8721 genome.wustl.edu 37 9 139757835 139757835 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 139757835 139757835 C T SNP EDF1 ENST00000224073 human ensembl 70_37 -1 known missense c.196 p.E66K 1.000 pfam_MBF1_N pfam_MBF1_N,pfam_HTH_3,superfamily_Lambda_DNA-bd_dom,smart_HTH_3,pfscan_HTH_3 - no_errors EDF1 HGNC EDNRA 1909 genome.wustl.edu 37 4 148463811 148463811 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 148463811 148463811 C T SNP EDNRA ENST00000503721 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors EDNRA HGNC EEF1D 1936 genome.wustl.edu 37 8 144671934 144671934 + Silent SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 144671934 144671934 G T SNP EEF1D ENST00000423316 human ensembl 70_37 -1 known silent c.318 p.L106 0.992 NULL pfam_Transl_elong_fac_EF1B_bsu/dsu,pfam_EF-1_beta_acid_region_euk,superfamily_Transl_elong_fac_EF1B_bsu/dsu,smart_Transl_elong_fac_EF1B_bsu/dsu - no_errors EEF1D HGNC EFHC2 80258 genome.wustl.edu 37 X 44101443 44101443 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 44101443 44101443 C G SNP EFHC2 ENST00000333807 human ensembl 70_37 -1 known missense c.1204 p.D402H 1.000 NULL pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2 - no_errors EFHC2 HGNC EFHC2 80258 genome.wustl.edu 37 X 44101485 44101485 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 44101485 44101485 C G SNP EFHC2 ENST00000333807 human ensembl 70_37 -1 known missense c.1162 p.E388Q 1.000 NULL pfam_DUF1126,smart_Uncharacterised_DM10,pfscan_EF_HAND_2 - no_errors EFHC2 HGNC EFR3A 23167 genome.wustl.edu 37 8 132968055 132968055 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 132968055 132968055 G C SNP EFR3A ENST00000254624 human ensembl 70_37 +1 known missense c.679 p.E227Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3A HGNC EGFR 1956 genome.wustl.edu 37 7 55231442 55231442 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 55231442 55231442 G C SNP EGFR ENST00000275493 human ensembl 70_37 +1 known missense c.1648 p.V550L 0.997 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Growth_fac_rcpt 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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EGFR HGNC EHD3 30845 genome.wustl.edu 37 2 31489256 31489256 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 31489256 31489256 G A SNP EHD3 ENST00000322054 human ensembl 70_37 +1 known missense c.1294 p.E432K 1.000 NULL pfam_Dynamin_GTPase,smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors EHD3 HGNC EIF2D 1939 genome.wustl.edu 37 1 206769124 206769124 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 206769124 206769124 C T SNP EIF2D ENST00000271764 human ensembl 70_37 -1 known silent c.1452 p.K484 1.000 superfamily_TIF_SUI1 pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1 - no_errors EIF2D HGNC EIF3A 8661 genome.wustl.edu 37 10 120797792 120797792 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 120797792 120797792 C G SNP EIF3A ENST00000369144 human ensembl 70_37 -1 known missense c.3686 p.R1229T 0.996 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC EIF3H 8667 genome.wustl.edu 37 8 117767936 117767936 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 117767936 117767936 G A SNP EIF3H ENST00000521861 human ensembl 70_37 -1 known missense c.101 p.S34L 1.000 pfam_JAB1_Mov34_MPN_PAD1 pfam_JAB1_Mov34_MPN_PAD1,smart_JAB1_Mov34_MPN_PAD1 - no_errors EIF3H HGNC ELANE 1991 genome.wustl.edu 37 19 855775 855775 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 855775 855775 G A SNP ELANE ENST00000263621 human ensembl 70_37 +1 known missense c.578 p.R193Q 0.205 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors ELANE HGNC ELF3 1999 genome.wustl.edu 37 1 201984422 201984422 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 201984422 201984422 G A SNP ELF3 ENST00000359651 human ensembl 70_37 +1 known missense c.1087 p.E363K 1.000 NULL pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets - no_errors ELF3 HGNC ELFN2 114794 genome.wustl.edu 37 22 37769910 37769910 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 37769910 37769910 G C SNP ELFN2 ENST00000349653 human ensembl 70_37 -1 known silent c.1665 p.L555 1.000 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG-motif_cell_wall_anchor - no_errors ELFN2 HGNC ELFN2 114794 genome.wustl.edu 37 22 37771487 37771487 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 37771487 37771487 C T SNP ELFN2 ENST00000349653 human ensembl 70_37 -1 known missense c.88 p.D30N 1.000 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG-motif_cell_wall_anchor - no_errors ELFN2 HGNC ELL 8178 genome.wustl.edu 37 19 18632761 18632761 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 18632761 18632761 C G SNP ELL ENST00000262809 human ensembl 70_37 -1 known silent c.105 p.L35 1.000 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ELOVL2 54898 genome.wustl.edu 37 6 10995297 10995297 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 10995297 10995297 G C SNP ELOVL2 ENST00000354666 human ensembl 70_37 -1 known missense c.448 p.H150D 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL2 HGNC EML6 400954 genome.wustl.edu 37 2 55119690 55119690 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 55119690 55119690 C T SNP EML6 ENST00000356458 human ensembl 70_37 +1 novel missense c.2639 p.S880L 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML6 HGNC EMR4P 326342 genome.wustl.edu 37 19 6960346 6960346 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 6960346 6960346 G C SNP EMR4P ENST00000600751 human ensembl 70_37 -1 known rna NULL NULL 0.955 - - - no_errors EMR4P HGNC EMX2 2018 genome.wustl.edu 37 10 119308192 119308192 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 119308192 119308192 G A SNP EMX2 ENST00000442245 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors EMX2 HGNC ENDOU 8909 genome.wustl.edu 37 12 48107060 48107060 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 48107060 48107060 G C SNP ENDOU ENST00000229003 human ensembl 70_37 -1 known nonsense c.740 p.S247* 1.000 pfam_Endoribonuclease_XendoU pfam_Endoribonuclease_XendoU,pfam_Somatomedin_B_dom,smart_Somatomedin_B_dom,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENDOU HGNC ENPEP 2028 genome.wustl.edu 37 4 111397773 111397773 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 111397773 111397773 C G SNP ENPEP ENST00000265162 human ensembl 70_37 +1 known nonsense c.203 p.S68* 0.193 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000203900 0 genome.wustl.edu 37 20 61999205 61999205 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 61999205 61999205 G C SNP ENSG00000203900 ENST00000370257 human ensembl 70_37 +1 known rna NULL NULL 0.849 - - - no_errors RP11-261N11.8 Clone_based_vega_gene ENSG00000205233 0 genome.wustl.edu 37 7 102313440 102313440 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 102313440 102313440 C T SNP ENSG00000205233 ENST00000542270 human ensembl 70_37 -1 known silent c.369 p.E123 0.000 NULL NULL - no_errors AC105052.1 Clone_based_ensembl_gene ENSG00000206567 0 genome.wustl.edu 37 3 10048528 10048528 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 10048528 10048528 G A SNP ENSG00000206567 ENST00000383808 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors AC022007.5 Clone_based_vega_gene ENSG00000211518 0 genome.wustl.edu 37 7 88269891 88269891 + RNA DEL T T - TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 88269891 88269891 T - DEL ENSG00000211518 ENST00000390184 human ensembl 70_37 +1 novel rna NULL NULL 0.475 - - - no_errors AC006988.1 Clone_based_ensembl_gene ENSG00000213742 0 genome.wustl.edu 37 20 25657765 25657765 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 25657765 25657765 C G SNP ENSG00000213742 ENST00000414393 human ensembl 70_37 +1 known rna NULL NULL 0.124 - - - no_errors RP4-694B14.5 Clone_based_vega_gene ENSG00000216166 0 genome.wustl.edu 37 3 183520323 183520324 + RNA INS - - TA TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 183520323 183520324 - TA INS ENSG00000216166 ENST00000401347 human ensembl 70_37 -1 novel rna NULL NULL 0.000:0.000 - - - no_errors AC131160.1 Clone_based_ensembl_gene ENSG00000218739 0 genome.wustl.edu 37 2 37428867 37428867 + Nonstop_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 37428867 37428867 G C SNP ENSG00000218739 ENST00000392061 human ensembl 70_37 +1 novel nonstop c.243 p.*81Y 0.012 NULL NULL - no_errors AC007390.5 Clone_based_vega_gene ENSG00000221222 0 genome.wustl.edu 37 1 87617014 87617014 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 87617014 87617014 G A SNP ENSG00000221222 ENST00000408295 human ensembl 70_37 +1 novel rna NULL NULL 0.008 - - - no_errors AL139139.1 Clone_based_ensembl_gene ENSG00000222526 0 genome.wustl.edu 37 4 138149345 138149345 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 138149345 138149345 G A SNP ENSG00000222526 ENST00000410594 human ensembl 70_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC060835.1 Clone_based_ensembl_gene ENSG00000223804 0 genome.wustl.edu 37 1 143744275 143744275 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 143744275 143744275 G C SNP ENSG00000223804 ENST00000418192 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors BX284650.1 Clone_based_vega_gene ENSG00000226113 0 genome.wustl.edu 37 10 38536867 38536867 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 38536867 38536867 C T SNP ENSG00000226113 ENST00000450980 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-672F9.1 Clone_based_vega_gene ENSG00000227582 0 genome.wustl.edu 37 9 66517323 66517323 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 66517323 66517323 G A SNP ENSG00000227582 ENST00000590130 human ensembl 70_37 -1 known rna NULL NULL 0.983 - - - no_errors RP11-262H14.7 Clone_based_vega_gene ENSG00000230850 0 genome.wustl.edu 37 1 143232968 143232968 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 143232968 143232968 G A SNP ENSG00000230850 ENST00000438000 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors BX571672.1 Clone_based_vega_gene ENSG00000230969 0 genome.wustl.edu 37 17 16891662 16891662 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 16891662 16891662 G C SNP ENSG00000230969 ENST00000419151 human ensembl 70_37 +1 known rna NULL NULL 0.259 - - - no_errors AC104024.2 Clone_based_vega_gene ENSG00000232274 0 genome.wustl.edu 37 1 143209660 143209660 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 143209660 143209660 C T SNP ENSG00000232274 ENST00000412204 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors BX571672.2 Clone_based_vega_gene ENSG00000232462 0 genome.wustl.edu 37 10 49364145 49364145 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 49364145 49364145 C G SNP ENSG00000232462 ENST00000429307 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-13E1.5 Clone_based_vega_gene ENSG00000232783 0 genome.wustl.edu 37 3 197838274 197838274 + RNA DEL A A - TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 197838274 197838274 A - DEL ENSG00000232783 ENST00000411596 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors AC073135.3 Clone_based_vega_gene ENSG00000234117 0 genome.wustl.edu 37 6 116818055 116818055 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 116818055 116818055 C G SNP ENSG00000234117 ENST00000420595 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-259P20.1 Clone_based_vega_gene ENSG00000237281 0 genome.wustl.edu 37 2 219215890 219215890 + RNA DEL T T - TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 219215890 219215890 T - DEL ENSG00000237281 ENST00000411433 human ensembl 70_37 -1 known rna NULL NULL 0.199 - - - no_errors AC021016.8 Clone_based_vega_gene ENSG00000248540 0 genome.wustl.edu 37 15 74420858 74420858 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 74420858 74420858 C T SNP ENSG00000248540 ENST00000514871 human ensembl 70_37 -1 putative missense c.235 p.E79K 0.000 NULL NULL - no_errors RP11-247C2.2 Clone_based_vega_gene ENSG00000254003 0 genome.wustl.edu 37 7 87848262 87848262 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 87848262 87848262 G A SNP ENSG00000254003 ENST00000520993 human ensembl 70_37 +1 known rna NULL NULL 0.145 - - - no_errors CTB-167B5.1 Clone_based_vega_gene ENSG00000255583 0 genome.wustl.edu 37 12 64082250 64082250 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 64082250 64082250 G A SNP ENSG00000255583 ENST00000541353 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-415I12.2 Clone_based_vega_gene ENSG00000257137 0 genome.wustl.edu 37 12 52602151 52602151 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 52602151 52602151 C T SNP ENSG00000257137 ENST00000551894 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-845M18.3 Clone_based_vega_gene ENSG00000257743 0 genome.wustl.edu 37 7 141895964 141895964 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 141895964 141895964 G C SNP ENSG00000257743 ENST00000550494 human ensembl 70_37 +1 known missense c.1138 p.E380Q 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 0 genome.wustl.edu 37 7 141898466 141898466 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 141898466 141898466 G C SNP ENSG00000257743 ENST00000550494 human ensembl 70_37 +1 known missense c.1756 p.D586H 0.778 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000258130 0 genome.wustl.edu 37 16 30217335 30217335 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 30217335 30217335 G A SNP ENSG00000258130 ENST00000550538 human ensembl 70_37 -1 putative missense c.920 p.S307L 0.015 NULL NULL - no_errors RP11-347C12.3 Clone_based_vega_gene ENSG00000266302 0 genome.wustl.edu 37 17 16676931 16676931 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 16676931 16676931 G C SNP ENSG00000266302 ENST00000448331 human ensembl 70_37 +1 known missense c.4262 p.R1421T 0.283 NULL pfam_DUF3496 - no_errors CCDC144A Uniprot_genename ENSG00000266939 0 genome.wustl.edu 37 19 617134 617134 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 617134 617134 G A SNP ENSG00000266939 ENST00000591847 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors AC005559.2 Clone_based_vega_gene ENSG00000266962 0 genome.wustl.edu 37 17 40705912 40705912 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 40705912 40705912 C A SNP ENSG00000266962 ENST00000590513 human ensembl 70_37 -1 known rna NULL NULL 0.500 - - - no_errors RP11-400F19.6 Clone_based_vega_gene ENSG00000267865 0 genome.wustl.edu 37 19 56220264 56220264 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 56220264 56220264 C G SNP ENSG00000267865 ENST00000596293 human ensembl 70_37 +1 known rna NULL NULL 0.018 - - - no_errors CTD-2611O12.8 Clone_based_vega_gene ENSG00000267882 0 genome.wustl.edu 37 20 45947722 45947722 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 45947722 45947722 G A SNP ENSG00000267882 ENST00000599904 human ensembl 70_37 +1 known missense c.358 p.E120K 0.001 NULL NULL - no_errors AL031666.2 Clone_based_ensembl_gene ENSG00000267970 0 genome.wustl.edu 37 7 48887541 48887541 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 48887541 48887541 C G SNP ENSG00000267970 ENST00000596947 human ensembl 70_37 +1 known missense c.41 p.S14W 0.033 NULL NULL - no_errors AC004899.1 Clone_based_ensembl_gene ENSG00000268416 0 genome.wustl.edu 37 19 20933131 20933131 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 20933131 20933131 G A SNP ENSG00000268416 ENST00000593903 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2626G11.2 Clone_based_vega_gene EPPK1 83481 genome.wustl.edu 37 8 144941826 144941826 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 144941826 144941826 C T SNP EPPK1 ENST00000525985 human ensembl 70_37 -1 known missense c.5596 p.D1866N 0.276 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ERCC4 2072 genome.wustl.edu 37 16 14029049 14029049 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 14029049 14029049 G A SNP ERCC4 ENST00000311895 human ensembl 70_37 +1 known silent c.1260 p.L420 0.982 tigrfam_Rad1 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ERICH2 285141 genome.wustl.edu 37 2 171649424 171649424 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 171649424 171649424 C T SNP ERICH2 ENST00000409885 human ensembl 70_37 +1 novel nonsense c.268 p.Q90* 1.000 NULL NULL - no_errors ERICH2 HGNC ESPL1 9700 genome.wustl.edu 37 12 53673569 53673569 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 53673569 53673569 G A SNP ESPL1 ENST00000257934 human ensembl 70_37 +1 known silent c.2418 p.L806 0.004 NULL pfam_Peptidase_C50 - no_errors ESPL1 HGNC ESR1 2099 genome.wustl.edu 37 6 152163896 152163896 + Missense_Mutation SNP A A G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 152163896 152163896 A G SNP ESR1 ENST00000206249 human ensembl 70_37 +1 known missense c.617 p.K206R 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Oestr_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_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR1 HGNC ESYT1 23344 genome.wustl.edu 37 12 56527950 56527950 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 56527950 56527950 G A SNP ESYT1 ENST00000267113 human ensembl 70_37 +1 known silent c.1560 p.V520 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,prints_C2_dom,pfscan_C2_membr_targeting - no_errors ESYT1 HGNC ESYT1 23344 genome.wustl.edu 37 12 56528198 56528198 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 56528198 56528198 G T SNP ESYT1 ENST00000267113 human ensembl 70_37 +1 known nonsense c.1648 p.E550* 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,prints_C2_dom,pfscan_C2_membr_targeting - no_errors ESYT1 HGNC ESYT2 57488 genome.wustl.edu 37 7 158526571 158526571 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 158526571 158526571 C T SNP ESYT2 ENST00000471192 human ensembl 70_37 -1 known rna NULL NULL 0.988 - - - no_errors ESYT2 HGNC ETV6 2120 genome.wustl.edu 37 12 11905486 11905486 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 11905486 11905486 G C SNP ETV6 ENST00000396373 human ensembl 70_37 +1 known missense c.136 p.D46H 1.000 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV6 HGNC EVC2 132884 genome.wustl.edu 37 4 5620249 5620249 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 5620249 5620249 C T SNP EVC2 ENST00000344408 human ensembl 70_37 -1 known missense c.2662 p.E888K 0.961 NULL pfam_Limbin - no_errors EVC2 HGNC EVC2 132884 genome.wustl.edu 37 4 5633675 5633675 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 5633675 5633675 C T SNP EVC2 ENST00000344408 human ensembl 70_37 -1 known missense c.1555 p.E519K 0.400 pfam_Limbin pfam_Limbin - no_errors EVC2 HGNC EVPL 2125 genome.wustl.edu 37 17 74019720 74019720 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 74019720 74019720 C T SNP EVPL ENST00000301607 human ensembl 70_37 -1 known missense c.214 p.E72K 0.004 NULL pfam_Plectin_repeat,superfamily_Ferritin/RNR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC EXOC3L1 283849 genome.wustl.edu 37 16 67221399 67221399 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 67221399 67221399 C G SNP EXOC3L1 ENST00000314586 human ensembl 70_37 -1 known missense c.769 p.E257Q 0.991 pfam_Sec6 pfam_Sec6 - no_errors EXOC3L1 HGNC EXOC3L1 283849 genome.wustl.edu 37 16 67221525 67221525 + Nonsense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 67221525 67221525 C A SNP EXOC3L1 ENST00000314586 human ensembl 70_37 -1 known nonsense c.643 p.E215* 0.181 pfam_Sec6 pfam_Sec6 - no_errors EXOC3L1 HGNC EXOC5 10640 genome.wustl.edu 37 14 57699549 57699549 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 57699549 57699549 C T SNP EXOC5 ENST00000554934 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors EXOC5 HGNC EXOC8 149371 genome.wustl.edu 37 1 231472834 231472834 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 231472834 231472834 G A SNP EXOC8 ENST00000360394 human ensembl 70_37 -1 known nonsense c.658 p.Q220* 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC EXOC8 149371 genome.wustl.edu 37 1 231473335 231473335 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 231473335 231473335 C T SNP EXOC8 ENST00000360394 human ensembl 70_37 -1 known missense c.157 p.E53K 1.000 pfam_Vps51 pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC EZH2 2146 genome.wustl.edu 37 7 148506428 148506428 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 148506428 148506428 G A SNP EZH2 ENST00000320356 human ensembl 70_37 -1 known missense c.2084 p.S695L 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH2 HGNC F8 2157 genome.wustl.edu 37 X 154175986 154175986 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 154175986 154175986 C G SNP F8 ENST00000360256 human ensembl 70_37 -1 known silent c.2100 p.S700 0.694 superfamily_Cupredoxin 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 F8A1 8263 genome.wustl.edu 37 X 154115607 154115607 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 154115607 154115607 C G SNP F8A1 ENST00000369446 human ensembl 70_37 +1 known missense c.958 p.L320V 0.962 NULL NULL - no_errors F8A1 HGNC FADS6 283985 genome.wustl.edu 37 17 72889632 72889632 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 72889632 72889632 C G SNP FADS6 ENST00000310226 human ensembl 70_37 -1 known missense c.62 p.R21P 0.000 NULL pfam_Fatty_acid_desaturase-1 - no_errors FADS6 HGNC FADS6 283985 genome.wustl.edu 37 17 72889643 72889643 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 72889643 72889643 C T SNP FADS6 ENST00000310226 human ensembl 70_37 -1 known silent c.51 p.R17 0.000 NULL pfam_Fatty_acid_desaturase-1 - no_errors FADS6 HGNC AMER3 205147 genome.wustl.edu 37 2 131521047 131521047 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 131521047 131521047 G A SNP FAM123C ENST00000321420 human ensembl 70_37 +1 known missense c.1402 p.E468K 1.000 NULL pfam_Uncharacterised_FAM123 - no_errors FAM123C HGNC FAM133A 286499 genome.wustl.edu 37 X 92965019 92965019 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 92965019 92965019 G A SNP FAM133A ENST00000322139 human ensembl 70_37 +1 known missense c.601 p.E201K 0.996 NULL NULL - no_errors FAM133A HGNC FAM133B 257415 genome.wustl.edu 37 7 92206487 92206487 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 92206487 92206487 C T SNP FAM133B ENST00000445716 human ensembl 70_37 -1 known missense c.395 p.R132K 1.000 NULL NULL - no_errors FAM133B HGNC FAM178A 55719 genome.wustl.edu 37 10 102675791 102675791 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 102675791 102675791 C G SNP FAM178A ENST00000370269 human ensembl 70_37 +1 known nonsense c.176 p.S59* 1.000 NULL NULL - no_errors FAM178A HGNC FAM183B 340286 genome.wustl.edu 37 7 38725348 38725348 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 38725348 38725348 C T SNP FAM183B ENST00000409072 human ensembl 70_37 -1 novel silent c.258 p.Q86 0.007 NULL NULL - no_errors FAM183B HGNC TVP23A 780776 genome.wustl.edu 37 16 10855187 10855187 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 10855187 10855187 G C SNP FAM18A ENST00000572980 human ensembl 70_37 -1 known rna NULL NULL 0.013 - - - no_errors FAM18A HGNC FAM193A 8603 genome.wustl.edu 37 4 2632821 2632821 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 2632821 2632821 C G SNP FAM193A ENST00000324666 human ensembl 70_37 +1 known missense c.90 p.F30L 1.000 NULL NULL - no_errors FAM193A HGNC FAM47B 170062 genome.wustl.edu 37 X 34962239 34962239 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 34962239 34962239 G A SNP FAM47B ENST00000329357 human ensembl 70_37 +1 known missense c.1291 p.G431R 0.001 NULL NULL - no_errors FAM47B HGNC FAM47C 442444 genome.wustl.edu 37 X 37028026 37028026 + Missense_Mutation SNP T T C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 37028026 37028026 T C SNP FAM47C ENST00000358047 human ensembl 70_37 +1 known missense c.1543 p.S515P 0.002 NULL NULL - no_errors FAM47C HGNC FAM69A 388650 genome.wustl.edu 37 1 93309606 93309606 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 93309606 93309606 C T SNP FAM69A ENST00000370310 human ensembl 70_37 -1 known silent c.621 p.V207 0.985 pfam_Uncharacterised_FAM69 pfam_Uncharacterised_FAM69 - no_errors FAM69A HGNC FAM83D 81610 genome.wustl.edu 37 20 37580927 37580927 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 37580927 37580927 C T SNP FAM83D ENST00000217429 human ensembl 70_37 +1 known missense c.1612 p.P538S 0.000 NULL pfam_DUF1669 - no_errors FAM83D HGNC FAM83G 644815 genome.wustl.edu 37 17 18907093 18907093 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 18907093 18907093 G A SNP FAM83G ENST00000345041 human ensembl 70_37 -1 known nonsense c.262 p.Q88* 0.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83G HGNC FAM84B 157638 genome.wustl.edu 37 8 127569296 127569296 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 127569296 127569296 G C SNP FAM84B ENST00000304916 human ensembl 70_37 -1 known silent c.339 p.L113 1.000 NULL pfam_LRAT-like_dom - no_errors FAM84B HGNC FAM92B 339145 genome.wustl.edu 37 16 85135832 85135832 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 85135832 85135832 C G SNP FAM92B ENST00000539556 human ensembl 70_37 -1 known missense c.639 p.E213D 0.059 pfam_FAM92 pfam_FAM92 - no_errors FAM92B HGNC FANCI 55215 genome.wustl.edu 37 15 89807819 89807819 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 89807819 89807819 G C SNP FANCI ENST00000310775 human ensembl 70_37 +1 known missense c.736 p.E246Q 0.972 NULL NULL - no_errors FANCI HGNC FARSA 2193 genome.wustl.edu 37 19 13033634 13033634 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 13033634 13033634 C T SNP FARSA ENST00000314606 human ensembl 70_37 -1 known silent c.1455 p.Q485 1.000 pfscan_aa-tRNA-synth_II pfam_Phenylalanyl-tRNA_Synthase,pfam_aa-tRNA-synt_IIb_cons-dom,pfam_aa-tRNA-synt_II,pfscan_aa-tRNA-synth_II,tigrfam_Phe-tRNA-synth_IIc_asu - no_errors FARSA HGNC FASN 2194 genome.wustl.edu 37 17 80040815 80040815 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 80040815 80040815 C T SNP FASN ENST00000306749 human ensembl 70_37 -1 known silent c.5742 p.L1914 1.000 pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,smart_PKS/FAS_KR pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC FAT2 2196 genome.wustl.edu 37 5 150947186 150947186 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 150947186 150947186 G C SNP FAT2 ENST00000261800 human ensembl 70_37 -1 known nonsense c.1307 p.S436* 0.266 superfamily_Cadherin-like,smart_Cadherin,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 FBN2 2201 genome.wustl.edu 37 5 127697517 127697517 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 127697517 127697517 C G SNP FBN2 ENST00000262464 human ensembl 70_37 -1 known missense c.2453 p.R818T 1.000 pfam_EGF-like_Ca-bd,pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN2 HGNC FBP1 2203 genome.wustl.edu 37 9 97369154 97369154 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 97369154 97369154 G A SNP FBP1 ENST00000375326 human ensembl 70_37 -1 known silent c.648 p.Y216 0.837 pfam_FBPase_class-1/SBPase,prints_FBPase_class-1/SBPase pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPase_class-1/SBPase,prints_SBPase - no_errors FBP1 HGNC FBRSL1 57666 genome.wustl.edu 37 12 133148877 133148877 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 133148877 133148877 G C SNP FBRSL1 ENST00000434748 human ensembl 70_37 +1 known missense c.1435 p.D479H 1.000 NULL prints_AUTS2 - no_errors FBRSL1 HGNC FBXL16 146330 genome.wustl.edu 37 16 745029 745029 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 745029 745029 G A SNP FBXL16 ENST00000324361 human ensembl 70_37 -1 known missense c.1190 p.S397L 1.000 smart_Leu-rich_rpt_Cys-con_subtyp superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL16 HGNC FBXO10 26267 genome.wustl.edu 37 9 37537857 37537857 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 37537857 37537857 C T SNP FBXO10 ENST00000432825 human ensembl 70_37 -1 known silent c.669 p.V223 0.996 superfamily_Pectin_lyase_fold/virulence pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom_cyclin-like,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO10 HGNC FCGBP 8857 genome.wustl.edu 37 19 40411960 40411960 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 40411960 40411960 G T SNP FCGBP ENST00000221347 human ensembl 70_37 -1 known missense c.3668 p.S1223Y 0.428 smart_VWC_out,smart_VWF_C 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 FERMT2 10979 genome.wustl.edu 37 14 53342042 53342042 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 53342042 53342042 C G SNP FERMT2 ENST00000343279 human ensembl 70_37 -1 known missense c.997 p.E333Q 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 FEZF1 389549 genome.wustl.edu 37 7 121942387 121942387 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 121942387 121942387 C T SNP FEZF1 ENST00000442488 human ensembl 70_37 -1 known silent c.1092 p.L364 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF1 HGNC FGF6 2251 genome.wustl.edu 37 12 4554443 4554443 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 4554443 4554443 G C SNP FGF6 ENST00000228837 human ensembl 70_37 -1 known silent c.294 p.L98 0.962 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF - no_errors FGF6 HGNC FGF9 2254 genome.wustl.edu 37 13 22275734 22275734 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 22275734 22275734 G A SNP FGF9 ENST00000478546 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors FGF9 HGNC FKRP 79147 genome.wustl.edu 37 19 47258885 47258885 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 47258885 47258885 G C SNP FKRP ENST00000318584 human ensembl 70_37 +1 known missense c.178 p.D60H 1.000 NULL pfam_LicD - no_errors FKRP HGNC FLAD1 80308 genome.wustl.edu 37 1 154960571 154960571 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 154960571 154960571 C G SNP FLAD1 ENST00000405236 human ensembl 70_37 +1 known missense c.66 p.F22L 0.004 smart_Mopterin-bd pfam_Mopterin-bd,superfamily_Mopterin-bd,smart_Mopterin-bd - no_errors FLAD1 HGNC FLJ37453 729614 genome.wustl.edu 37 1 16161772 16161772 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 16161772 16161772 C T SNP FLJ37453 ENST00000317122 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-169K16.9 Clone_based_vega_gene LINC00951 401260 genome.wustl.edu 37 6 40312384 40312384 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 40312384 40312384 C G SNP FLJ41649 ENST00000373171 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-552E20.3 Clone_based_vega_gene FNDC5 252995 genome.wustl.edu 37 1 33330060 33330060 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 33330060 33330060 C A SNP FNDC5 ENST00000496770 human ensembl 70_37 -1 known rna NULL NULL 0.003 - - - no_errors FNDC5 HGNC FOCAD 54914 genome.wustl.edu 37 9 20862593 20862593 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 20862593 20862593 C G SNP FOCAD ENST00000338382 human ensembl 70_37 +1 known missense c.1937 p.S646C 1.000 pfam_DUF3730,superfamily_ARM-type_fold pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold - no_errors FOCAD HGNC FOXJ1 2302 genome.wustl.edu 37 17 74133686 74133686 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 74133686 74133686 G A SNP FOXJ1 ENST00000322957 human ensembl 70_37 -1 known silent c.1014 p.P338 0.015 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXJ1 HGNC FOXK2 3607 genome.wustl.edu 37 17 80559592 80559592 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 80559592 80559592 C G SNP FOXK2 ENST00000529652 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors FOXK2 HGNC FOXK2 3607 genome.wustl.edu 37 17 80559807 80559807 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 80559807 80559807 C G SNP FOXK2 ENST00000529652 human ensembl 70_37 +1 known rna NULL NULL 0.959 - - - no_errors FOXK2 HGNC FOXO1 2308 genome.wustl.edu 37 13 41134033 41134033 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 41134033 41134033 G A SNP FOXO1 ENST00000379561 human ensembl 70_37 -1 known missense c.1595 p.S532F 0.496 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO1 HGNC FOXP2 93986 genome.wustl.edu 37 7 114302201 114302201 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 114302201 114302201 G A SNP FOXP2 ENST00000408937 human ensembl 70_37 +1 known missense c.1804 p.E602K 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC FRRS1 391059 genome.wustl.edu 37 1 100181193 100181193 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 100181193 100181193 G A SNP FRRS1 ENST00000287474 human ensembl 70_37 -1 known silent c.1272 p.L424 1.000 smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Reeler_dom,pfam_DOMON_domain,smart_DOMON_domain,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_DOMON_domain,pfscan_Reeler_dom,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors FRRS1 HGNC FRY 10129 genome.wustl.edu 37 13 32729667 32729667 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 32729667 32729667 G C SNP FRY ENST00000380250 human ensembl 70_37 +1 known missense c.1519 p.D507H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC FRY 10129 genome.wustl.edu 37 13 32835906 32835906 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 32835906 32835906 G A SNP FRY ENST00000380250 human ensembl 70_37 +1 known missense c.7570 p.E2524K 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC FSTL5 56884 genome.wustl.edu 37 4 162508625 162508625 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 162508625 162508625 G C SNP FSTL5 ENST00000306100 human ensembl 70_37 -1 known missense c.997 p.H333D 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Kazal-type_dom,pfam_Ig_V-set,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_HAND_2,pfscan_Ig-like - no_errors FSTL5 HGNC G6PC 2538 genome.wustl.edu 37 17 41063215 41063215 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 41063215 41063215 G C SNP G6PC ENST00000253801 human ensembl 70_37 +1 known missense c.846 p.E282D 0.982 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 G6PC HGNC GABARAP 11337 genome.wustl.edu 37 17 7144732 7144732 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 7144732 7144732 C T SNP GABARAP ENST00000302386 human ensembl 70_37 -1 known missense c.217 p.E73K 1.000 pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12 pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12 - no_errors GABARAP HGNC GABRG3 2567 genome.wustl.edu 37 15 27572055 27572055 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 27572055 27572055 G C SNP GABRG3 ENST00000333743 human ensembl 70_37 +1 known missense c.370 p.G124R 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_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg3_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG3 HGNC GAK 2580 genome.wustl.edu 37 4 907427 907427 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 907427 907427 C G SNP GAK ENST00000314167 human ensembl 70_37 -1 known missense c.175 p.D59H 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_Tensin_phosphatase_C2-dom,pfam_DnaJ_N,superfamily_Kinase-like_dom,superfamily_DnaJ_N,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_DnaJ_N,pfscan_Prot_kinase_cat_dom,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_N - no_errors GAK HGNC GALNT9 50614 genome.wustl.edu 37 12 132834240 132834240 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 132834240 132834240 G A SNP GALNT9 ENST00000328957 human ensembl 70_37 -1 known missense c.947 p.S316L 0.945 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT9 HGNC GALR2 8811 genome.wustl.edu 37 17 74073113 74073113 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 74073113 74073113 C T SNP GALR2 ENST00000329003 human ensembl 70_37 +1 known silent c.765 p.L255 0.998 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,prints_Galanin_rcpt,prints_Galnin_2_rcpt - no_errors GALR2 HGNC GALR2 8811 genome.wustl.edu 37 17 74073178 74073178 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 74073178 74073178 C G SNP GALR2 ENST00000329003 human ensembl 70_37 +1 known missense c.830 p.S277W 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,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 GATA2 2624 genome.wustl.edu 37 3 128205845 128205845 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 128205845 128205845 C G SNP GATA2 ENST00000341105 human ensembl 70_37 -1 known missense c.30 p.W10C 1.000 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 GATA2 HGNC GCAT 23464 genome.wustl.edu 37 22 38211201 38211201 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 38211201 38211201 G T SNP GCAT ENST00000248924 human ensembl 70_37 +1 known missense c.645 p.Q215H 0.940 pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase - no_errors GCAT HGNC GCAT 23464 genome.wustl.edu 37 22 38211283 38211283 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 38211283 38211283 G C SNP GCAT ENST00000248924 human ensembl 70_37 +1 known missense c.727 p.G243R 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase - no_errors GCAT HGNC GCK 2645 genome.wustl.edu 37 7 44190560 44190560 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 44190560 44190560 C T SNP GCK ENST00000345378 human ensembl 70_37 -1 known missense c.481 p.D161N 1.000 pfam_Hexokinase_N,prints_Hexokinase pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors GCK HGNC GCNT6 644378 genome.wustl.edu 37 6 10634789 10634789 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 10634789 10634789 C G SNP GCNT6 ENST00000417671 human ensembl 70_37 +1 known nonsense c.797 p.S266* 0.003 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT6 HGNC GCSHP3 100329109 genome.wustl.edu 37 2 206980726 206980726 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 206980726 206980726 C T SNP GCSHP3 ENST00000453039 human ensembl 70_37 +1 known rna NULL NULL 0.009 - - - no_errors AC007383.4 Clone_based_vega_gene GEN1 348654 genome.wustl.edu 37 2 17962965 17962965 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 17962965 17962965 C T SNP GEN1 ENST00000317402 human ensembl 70_37 +1 known missense c.2486 p.S829L 0.001 NULL pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair - no_errors GEN1 HGNC GGNBP2 79893 genome.wustl.edu 37 17 34934549 34934549 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 34934549 34934549 C T SNP GGNBP2 ENST00000304718 human ensembl 70_37 +1 known missense c.778 p.H260Y 1.000 NULL NULL - no_errors GGNBP2 HGNC GIGYF1 64599 genome.wustl.edu 37 7 100285844 100285844 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 100285844 100285844 G C SNP GIGYF1 ENST00000275732 human ensembl 70_37 -1 known silent c.18 p.L6 0.998 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC GLA 2717 genome.wustl.edu 37 X 100652821 100652821 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 100652821 100652821 C T SNP GLA ENST00000218516 human ensembl 70_37 -1 known silent c.1266 p.Q422 0.000 NULL pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors GLA HGNC GLIS3 169792 genome.wustl.edu 37 9 3828373 3828373 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 3828373 3828373 C T SNP GLIS3 ENST00000381971 human ensembl 70_37 -1 known missense c.2692 p.G898R 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC GNPAT 8443 genome.wustl.edu 37 1 231410860 231410860 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 231410860 231410860 G A SNP GNPAT ENST00000469332 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors GNPAT HGNC GPATCH8 23131 genome.wustl.edu 37 17 42475866 42475866 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 42475866 42475866 G C SNP GPATCH8 ENST00000591680 human ensembl 70_37 -1 known missense c.3579 p.F1193L 0.998 NULL pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC GPC2 221914 genome.wustl.edu 37 7 99774886 99774886 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 99774886 99774886 G A SNP GPC2 ENST00000480087 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors GPC2 HGNC GPR110 266977 genome.wustl.edu 37 6 46967979 46967979 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 46967979 46967979 G A SNP GPR110 ENST00000371253 human ensembl 70_37 -1 known nonsense c.2713 p.Q905* 0.974 NULL pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR110 HGNC GPR112 139378 genome.wustl.edu 37 X 135391004 135391004 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 135391004 135391004 C T SNP GPR112 ENST00000370652 human ensembl 70_37 +1 known missense c.68 p.S23L 1.000 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 GPR152 390212 genome.wustl.edu 37 11 67219821 67219821 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 67219821 67219821 G C SNP GPR152 ENST00000312457 human ensembl 70_37 -1 known silent c.375 p.L125 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR152 HGNC GPR18 2841 genome.wustl.edu 37 13 99907834 99907834 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 99907834 99907834 C G SNP GPR18 ENST00000340807 human ensembl 70_37 -1 known missense c.293 p.G98A 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor - no_errors GPR18 HGNC GPR98 84059 genome.wustl.edu 37 5 89981736 89981736 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 89981736 89981736 C G SNP GPR98 ENST00000405460 human ensembl 70_37 +1 known missense c.6414 p.I2138M 1.000 pfam_Calx_beta,smart_Calx_beta 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 GPRIN1 114787 genome.wustl.edu 37 5 176026585 176026585 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 176026585 176026585 G C SNP GPRIN1 ENST00000303991 human ensembl 70_37 -1 known missense c.251 p.S84C 0.822 NULL NULL - no_errors GPRIN1 HGNC GREB1 9687 genome.wustl.edu 37 2 11718523 11718523 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 11718523 11718523 G A SNP GREB1 ENST00000234142 human ensembl 70_37 +1 known silent c.738 p.T246 0.000 NULL NULL - no_errors GREB1 HGNC GRHL3 57822 genome.wustl.edu 37 1 24666196 24666196 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 24666196 24666196 G C SNP GRHL3 ENST00000350501 human ensembl 70_37 +1 known missense c.991 p.E331Q 1.000 pfam_CP2 pfam_CP2,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors GRHL3 HGNC GRIA1 2890 genome.wustl.edu 37 5 153078478 153078478 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 153078478 153078478 G A SNP GRIA1 ENST00000448073 human ensembl 70_37 +1 known missense c.1327 p.D443N 1.000 pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd 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 GRIA1 HGNC GRIN3A 116443 genome.wustl.edu 37 9 104448997 104448997 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 104448997 104448997 C T SNP GRIN3A ENST00000361820 human ensembl 70_37 -1 known silent c.1185 p.L395 1.000 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC GRIPAP1 56850 genome.wustl.edu 37 X 48830616 48830616 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 48830616 48830616 C T SNP GRIPAP1 ENST00000376441 human ensembl 70_37 -1 known missense c.2515 p.E839K 0.999 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC GRM7 2917 genome.wustl.edu 37 3 6903211 6903211 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 6903211 6903211 G A SNP GRM7 ENST00000402647 human ensembl 70_37 +1 known missense c.136 p.E46K 1.000 prints_GPCR_3 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_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC GTF2H3 2967 genome.wustl.edu 37 12 124144781 124144781 + Nonstop_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 124144781 124144781 G C SNP GTF2H3 ENST00000543341 human ensembl 70_37 +1 known nonstop c.926 p.*309S 0.444 NULL pfam_TF_Tfb4,tigrfam_TF_Tfb4 - no_errors GTF2H3 HGNC GTF3C2 2976 genome.wustl.edu 37 2 27566306 27566306 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 27566306 27566306 G C SNP GTF3C2 ENST00000264720 human ensembl 70_37 -1 known missense c.116 p.S39C 0.603 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors GTF3C2 HGNC GZMK 3003 genome.wustl.edu 37 5 54329656 54329656 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 54329656 54329656 G C SNP GZMK ENST00000231009 human ensembl 70_37 +1 known missense c.697 p.E233Q 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors GZMK HGNC H1FX 8971 genome.wustl.edu 37 3 129034730 129034730 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 129034730 129034730 C G SNP H1FX ENST00000333762 human ensembl 70_37 -1 known missense c.16 p.E6Q 0.536 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors H1FX HGNC HAND1 9421 genome.wustl.edu 37 5 153857329 153857329 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 153857329 153857329 C T SNP HAND1 ENST00000231121 human ensembl 70_37 -1 known silent c.240 p.Q80 1.000 NULL pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors HAND1 HGNC HCG11 493812 genome.wustl.edu 37 6 26522340 26522340 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 26522340 26522340 G A SNP HCG11 ENST00000411553 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors HCG11 HGNC HCN1 348980 genome.wustl.edu 37 5 45303719 45303719 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 45303719 45303719 C T SNP HCN1 ENST00000303230 human ensembl 70_37 -1 known missense c.1600 p.D534N 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_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 HDX 139324 genome.wustl.edu 37 X 83588783 83588783 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 83588783 83588783 G C SNP HDX ENST00000297977 human ensembl 70_37 -1 known missense c.1808 p.S603C 0.998 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HDX HGNC HEATR1 55127 genome.wustl.edu 37 1 236750721 236750722 + Frame_Shift_Ins INS - - T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 236750721 236750722 - T INS HEATR1 ENST00000366582 human ensembl 70_37 -1 known frame_shift_ins c.1696_1695 p.L565fs 1.000:0.993 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC HEATR1 55127 genome.wustl.edu 37 1 236750724 236750724 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 236750724 236750724 C T SNP HEATR1 ENST00000366582 human ensembl 70_37 -1 known missense c.1693 p.E565K 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC HEATR5A 25938 genome.wustl.edu 37 14 31863394 31863394 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 31863394 31863394 C G SNP HEATR5A ENST00000389961 human ensembl 70_37 -1 known missense c.618 p.W206C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5A HGNC MROH2A 339766 genome.wustl.edu 37 2 234702468 234702468 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 234702468 234702468 G A SNP HEATR7B1 ENST00000389758 human ensembl 70_37 +1 novel missense c.820 p.E274K 0.949 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B1 HGNC MROH2A 339766 genome.wustl.edu 37 2 234704681 234704681 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 234704681 234704681 C T SNP HEATR7B1 ENST00000389758 human ensembl 70_37 +1 novel silent c.1128 p.F376 0.985 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR7B1 HGNC HECTD4 283450 genome.wustl.edu 37 12 112602065 112602065 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 112602065 112602065 G A SNP HECTD4 ENST00000377560 human ensembl 70_37 -1 known silent c.12033 p.T4011 0.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC HEG1 57493 genome.wustl.edu 37 3 124748248 124748248 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 124748248 124748248 G A SNP HEG1 ENST00000311127 human ensembl 70_37 -1 known missense c.401 p.S134L 0.003 NULL pfam_EG-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC HELQ 113510 genome.wustl.edu 37 4 84376882 84376882 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 84376882 84376882 C T SNP HELQ ENST00000440639 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors HELQ HGNC HELZ2 85441 genome.wustl.edu 37 20 62197125 62197125 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 62197125 62197125 G A SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known missense c.3050 p.A1017V 0.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC HELZ2 85441 genome.wustl.edu 37 20 62199862 62199862 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 62199862 62199862 C T SNP HELZ2 ENST00000467148 human ensembl 70_37 -1 known missense c.1579 p.A527T 0.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors HELZ2 HGNC HERC2 8924 genome.wustl.edu 37 15 28387979 28387979 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 28387979 28387979 G A SNP HERC2 ENST00000261609 human ensembl 70_37 -1 known silent c.11538 p.F3846 1.000 NULL 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 HERC5 51191 genome.wustl.edu 37 4 89407319 89407319 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 89407319 89407319 C G SNP HERC5 ENST00000264350 human ensembl 70_37 +1 known silent c.1791 p.L597 0.170 NULL pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC5 HGNC HERC6 55008 genome.wustl.edu 37 4 89363429 89363429 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 89363429 89363429 G A SNP HERC6 ENST00000264346 human ensembl 70_37 +1 known silent c.2886 p.Q962 0.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC6 HGNC HEXDC 284004 genome.wustl.edu 37 17 80400180 80400180 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 80400180 80400180 C G SNP HEXDC ENST00000327949 human ensembl 70_37 +1 known missense c.1381 p.L461V 0.451 NULL pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC HGFAC 3083 genome.wustl.edu 37 4 3447863 3447863 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 3447863 3447863 G T SNP HGFAC ENST00000382774 human ensembl 70_37 +1 known missense c.1197 p.K399N 1.000 superfamily_Pept_cys/ser_Trypsin-like,pirsf_Coagulation_fac_XIIa/HGFA pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGFAC HGNC HGFAC 3083 genome.wustl.edu 37 4 3447866 3447866 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 3447866 3447866 G T SNP HGFAC ENST00000382774 human ensembl 70_37 +1 known missense c.1200 p.K400N 1.000 superfamily_Pept_cys/ser_Trypsin-like,pirsf_Coagulation_fac_XIIa/HGFA pfam_Peptidase_S1_S6,pfam_Kringle,pfam_FN_type2_col-bd,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pirsf_Coagulation_fac_XIIa/HGFA,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors HGFAC HGNC HIF1A 3091 genome.wustl.edu 37 14 62203827 62203827 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 62203827 62203827 G A SNP HIF1A ENST00000539097 human ensembl 70_37 +1 known missense c.1321 p.D441N 1.000 prints_HIF-1_alpha pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_HIF-1_alpha,tigrfam_PAS - no_errors HIF1A HGNC HIPK1 204851 genome.wustl.edu 37 1 114483792 114483792 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 114483792 114483792 C G SNP HIPK1 ENST00000369558 human ensembl 70_37 +1 known missense c.787 p.H263D 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 HIPK1 HGNC HIST1H1B 3009 genome.wustl.edu 37 6 27834888 27834888 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 27834888 27834888 C T SNP HIST1H1B ENST00000331442 human ensembl 70_37 -1 known silent c.420 p.K140 1.000 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1B HGNC HIST1H1C 3006 genome.wustl.edu 37 6 26056270 26056270 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 26056270 26056270 C G SNP HIST1H1C ENST00000343677 human ensembl 70_37 -1 known missense c.387 p.K129N 1.000 prints_Histone_H5 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1C HGNC HIST1H1E 3008 genome.wustl.edu 37 6 26156684 26156684 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 26156684 26156684 G A SNP HIST1H1E ENST00000304218 human ensembl 70_37 +1 known silent c.66 p.K22 1.000 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1E HGNC HIST1H2BC 8347 genome.wustl.edu 37 6 26123904 26123904 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 26123904 26123904 C T SNP HIST1H2BC ENST00000314332 human ensembl 70_37 -1 known missense c.229 p.E77K 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BC HGNC HIST1H2BK 85236 genome.wustl.edu 37 6 27114563 27114563 + Silent SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 27114563 27114563 C A SNP HIST1H2BK ENST00000356950 human ensembl 70_37 -1 known silent c.15 p.A5 0.003 superfamily_Histone-fold pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BK HGNC HIVEP2 3097 genome.wustl.edu 37 6 143090691 143090691 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 143090691 143090691 G C SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known missense c.5185 p.Q1729E 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC HIVEP2 3097 genome.wustl.edu 37 6 143091090 143091090 + Nonsense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 143091090 143091090 C A SNP HIVEP2 ENST00000012134 human ensembl 70_37 -1 known nonsense c.4786 p.E1596* 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC HKR1 284459 genome.wustl.edu 37 19 37853492 37853492 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 37853492 37853492 G A SNP HKR1 ENST00000324411 human ensembl 70_37 +1 known silent c.795 p.K265 0.092 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 HKR1 HGNC HN1 51155 genome.wustl.edu 37 17 73150528 73150528 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 73150528 73150528 G C SNP HN1 ENST00000465454 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors HN1 HGNC HNRNPR 10236 genome.wustl.edu 37 1 23670749 23670749 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 23670749 23670749 G C SNP HNRNPR ENST00000478691 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors HNRNPR HGNC HORMAD1 84072 genome.wustl.edu 37 1 150671161 150671161 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 150671161 150671161 C G SNP HORMAD1 ENST00000361824 human ensembl 70_37 -1 known missense c.1154 p.R385T 1.000 NULL pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors HORMAD1 HGNC HOXB2 3212 genome.wustl.edu 37 17 46622258 46622258 + Nonsense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 46622258 46622258 C A SNP HOXB2 ENST00000330070 human ensembl 70_37 -1 known nonsense c.16 p.E6* 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXB2 HGNC HOXB5 3215 genome.wustl.edu 37 17 46670955 46670955 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 46670955 46670955 C G SNP HOXB5 ENST00000239151 human ensembl 70_37 -1 known silent c.90 p.L30 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB5 HGNC HOXC10 3226 genome.wustl.edu 37 12 54383746 54383746 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 54383746 54383746 C T SNP HOXC10 ENST00000511575 human ensembl 70_37 +1 known rna NULL NULL 0.440 - - - no_errors HOXC10 HGNC HP09025 100652929 genome.wustl.edu 37 17 77685232 77685232 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 77685232 77685232 G A SNP HP09025 ENST00000397549 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2116F7.1 Clone_based_vega_gene HP1BP3 50809 genome.wustl.edu 37 1 21083712 21083712 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 21083712 21083712 C G SNP HP1BP3 ENST00000312239 human ensembl 70_37 -1 known missense c.928 p.E310Q 1.000 pfam_Histone_H1/H5,smart_Histone_H1/H5 pfam_Histone_H1/H5,smart_Histone_H1/H5 - no_errors HP1BP3 HGNC HRAS 3265 genome.wustl.edu 37 11 534330 534330 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 534330 534330 C T SNP HRAS ENST00000468682 human ensembl 70_37 -1 known rna NULL NULL 0.054 - - - no_errors HRAS HGNC HS6ST2 90161 genome.wustl.edu 37 X 132091225 132091225 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 132091225 132091225 G A SNP HS6ST2 ENST00000521489 human ensembl 70_37 -1 known silent c.558 p.F186 0.999 NULL pfam_Sulfotransferase - no_errors HS6ST2 HGNC HSF2 3298 genome.wustl.edu 37 6 122743932 122743932 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 122743932 122743932 G A SNP HSF2 ENST00000368455 human ensembl 70_37 +1 known silent c.900 p.Q300 1.000 pfam_Vert_HS_TF pfam_Vert_HS_TF,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF2 HGNC HSH2D 84941 genome.wustl.edu 37 19 16263369 16263369 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 16263369 16263369 G A SNP HSH2D ENST00000253680 human ensembl 70_37 +1 known missense c.133 p.E45K 0.210 pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2 pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2 - no_errors HSH2D HGNC HSH2D 84941 genome.wustl.edu 37 19 16263980 16263980 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 16263980 16263980 G C SNP HSH2D ENST00000253680 human ensembl 70_37 +1 known missense c.343 p.E115Q 0.000 smart_SH2,pfscan_SH2 pfam_SH2,smart_SH2,prints_SH2,pfscan_SH2 - no_errors HSH2D HGNC HSP90AA1 3320 genome.wustl.edu 37 14 102548615 102548615 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 102548615 102548615 G C SNP HSP90AA1 ENST00000334701 human ensembl 70_37 -1 known missense c.2288 p.S763C 1.000 pirsf_Hsp90,pfam_Hsp90 pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC HSPBAP1 79663 genome.wustl.edu 37 3 122459521 122459521 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 122459521 122459521 C A SNP HSPBAP1 ENST00000306103 human ensembl 70_37 -1 known missense c.1138 p.D380Y 0.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom,prints_HSPB1-associated_protein_1 - no_errors HSPBAP1 HGNC HSPH1 10808 genome.wustl.edu 37 13 31717984 31717984 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 31717984 31717984 G C SNP HSPH1 ENST00000445273 human ensembl 70_37 -1 known missense c.1667 p.S556C 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC HTR3B 9177 genome.wustl.edu 37 11 113813817 113813817 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 113813817 113813817 G C SNP HTR3B ENST00000260191 human ensembl 70_37 +1 known missense c.810 p.R270S 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel - no_errors HTR3B HGNC HTR7 3363 genome.wustl.edu 37 10 92508964 92508964 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 92508964 92508964 G A SNP HTR7 ENST00000336152 human ensembl 70_37 -1 known silent c.927 p.L309 0.996 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors HTR7 HGNC HTR7P1 93164 genome.wustl.edu 37 12 13155782 13155782 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 13155782 13155782 G C SNP HTR7P1 ENST00000535469 human ensembl 70_37 +1 known rna NULL NULL 0.472 - - - no_errors HTR7P1 HGNC HYDIN 54768 genome.wustl.edu 37 16 71101200 71101200 + Missense_Mutation SNP T T C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 71101200 71101200 T C SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known missense c.2068 p.T690A 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC HYDIN 54768 genome.wustl.edu 37 16 71163621 71163621 + Silent SNP T T C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 71163621 71163621 T C SNP HYDIN ENST00000316490 human ensembl 70_37 -1 known silent c.1149 p.R383 0.637 NULL superfamily_PapD-like - no_errors HYDIN HGNC ID3 3399 genome.wustl.edu 37 1 23885560 23885560 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 23885560 23885560 G A SNP ID3 ENST00000463312 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ID3 HGNC IDH3B 3420 genome.wustl.edu 37 20 2644840 2644840 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 2644840 2644840 C T SNP IDH3B ENST00000462967 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors IDH3B HGNC IFI44L 10964 genome.wustl.edu 37 1 79106759 79106759 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 79106759 79106759 C T SNP IFI44L ENST00000370751 human ensembl 70_37 +1 known nonsense c.1102 p.Q368* 0.797 NULL NULL - no_errors IFI44L HGNC IFIT1B 439996 genome.wustl.edu 37 10 91144451 91144451 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 91144451 91144451 G C SNP IFIT1B ENST00000371809 human ensembl 70_37 +1 known missense c.1381 p.E461Q 0.994 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1B HGNC IGBP1 3476 genome.wustl.edu 37 X 69368661 69368661 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 69368661 69368661 C G SNP IGBP1 ENST00000342206 human ensembl 70_37 +1 known missense c.729 p.F243L 0.970 pfam_TAP42-like pfam_TAP42-like - no_errors IGBP1 HGNC IGF1R 3480 genome.wustl.edu 37 15 99442728 99442728 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 99442728 99442728 G A SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known silent c.1125 p.E375 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L 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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC IGF1R 3480 genome.wustl.edu 37 15 99442734 99442734 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 99442734 99442734 C A SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known missense c.1131 p.F377L 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_EGF_rcpt_L 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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC IGF1R 3480 genome.wustl.edu 37 15 99482579 99482579 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 99482579 99482579 C G SNP IGF1R ENST00000268035 human ensembl 70_37 +1 known silent c.3447 p.V1149 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom 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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors IGF1R HGNC IGSF9 57549 genome.wustl.edu 37 1 159897978 159897978 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 159897978 159897978 C T SNP IGSF9 ENST00000368094 human ensembl 70_37 -1 known missense c.3200 p.R1067Q 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9 HGNC IKBIP 121457 genome.wustl.edu 37 12 99008094 99008094 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 99008094 99008094 C T SNP IKBIP ENST00000393042 human ensembl 70_37 -1 known nonsense c.204 p.W68* 0.947 NULL NULL - no_errors IKBIP HGNC IKBIP 121457 genome.wustl.edu 37 12 99008106 99008106 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 99008106 99008106 C T SNP IKBIP ENST00000342502 human ensembl 70_37 -1 known missense c.310 p.E104K 0.938 NULL NULL - no_errors IKBIP HGNC IL1RAP 3556 genome.wustl.edu 37 3 190374011 190374011 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 190374011 190374011 C T SNP IL1RAP ENST00000443369 human ensembl 70_37 +1 known missense c.1679 p.S560F 1.000 NULL pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like,prints_IL1_rcpt_1,prints_IL1_rcpt_I/II - no_errors IL1RAP HGNC IL4R 3566 genome.wustl.edu 37 16 27374353 27374353 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 27374353 27374353 G C SNP IL4R ENST00000170630 human ensembl 70_37 +1 known missense c.1680 p.Q560H 0.917 NULL pfam_IL4Ra_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC IMPA2 3613 genome.wustl.edu 37 18 11999180 11999180 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 18 11999180 11999180 C T SNP IMPA2 ENST00000269159 human ensembl 70_37 +1 known missense c.224 p.S75L 0.990 pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase pfam_Inositol_monophosphatase,prints_Inositol_monophosphatase,prints_Inositol_monoPase_Li-sen - no_errors IMPA2 HGNC INPP4A 3631 genome.wustl.edu 37 2 99162457 99162457 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 99162457 99162457 G C SNP INPP4A ENST00000074304 human ensembl 70_37 +1 known missense c.975 p.L325F 1.000 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4A HGNC INPP4B 8821 genome.wustl.edu 37 4 143003324 143003324 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 143003324 143003324 C T SNP INPP4B ENST00000509777 human ensembl 70_37 -1 known silent c.2502 p.L834 0.962 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4B HGNC INTS1 26173 genome.wustl.edu 37 7 1512808 1512808 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 1512808 1512808 G A SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known silent c.6582 p.F2194 0.942 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC INTS1 26173 genome.wustl.edu 37 7 1522299 1522299 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 1522299 1522299 C T SNP INTS1 ENST00000389470 human ensembl 70_37 -1 known missense c.4072 p.E1358K 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC INTS3 65123 genome.wustl.edu 37 1 153736609 153736609 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 153736609 153736609 G C SNP INTS3 ENST00000318967 human ensembl 70_37 +1 known missense c.1837 p.E613Q 1.000 NULL pfam_Int_cplx_su3 - no_errors INTS3 HGNC INTS6 26512 genome.wustl.edu 37 13 51943132 51943132 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 51943132 51943132 C T SNP INTS6 ENST00000311234 human ensembl 70_37 -1 known missense c.2419 p.E807K 1.000 NULL pfam_VWF_A,pfscan_VWF_A - no_errors INTS6 HGNC IPO4 79711 genome.wustl.edu 37 14 24650921 24650921 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 24650921 24650921 G A SNP IPO4 ENST00000354464 human ensembl 70_37 -1 known missense c.2936 p.P979L 0.622 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N - no_errors IPO4 HGNC IPO7 10527 genome.wustl.edu 37 11 9431474 9431474 + Splice_Site SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 9431474 9431474 G C SNP IPO7 ENST00000379719 human ensembl 70_37 +1 known splice_site c.321-1 e4-1 1.000 - - - no_errors IPO7 HGNC IPO7 10527 genome.wustl.edu 37 11 9466668 9466668 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 9466668 9466668 G T SNP IPO7 ENST00000379719 human ensembl 70_37 +1 known missense c.3044 p.G1015V 1.000 NULL pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC IQCF6 440956 genome.wustl.edu 37 3 51812702 51812702 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 51812702 51812702 G C SNP IQCF6 ENST00000398780 human ensembl 70_37 -1 known missense c.261 p.I87M 0.997 NULL pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF6 HGNC IRF7 3665 genome.wustl.edu 37 11 614216 614216 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 614216 614216 C G SNP IRF7 ENST00000330243 human ensembl 70_37 -1 known missense c.676 p.E226Q 0.970 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF7 HGNC ITGA2 3673 genome.wustl.edu 37 5 52386428 52386428 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 52386428 52386428 G A SNP ITGA2 ENST00000296585 human ensembl 70_37 +1 known silent c.3545 p.*1182 0.999 NULL 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 ITGA2 HGNC ITGA7 3679 genome.wustl.edu 37 12 56090710 56090710 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 56090710 56090710 G A SNP ITGA7 ENST00000555728 human ensembl 70_37 -1 known silent c.1842 p.V614 1.000 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ITGA8 8516 genome.wustl.edu 37 10 15617594 15617594 + Splice_Site SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 15617594 15617594 C T SNP ITGA8 ENST00000378076 human ensembl 70_37 -1 known splice_site c.2373-1 e24-1 1.000 - - - no_errors ITGA8 HGNC ITPR1 3708 genome.wustl.edu 37 3 4847939 4847939 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 4847939 4847939 C T SNP ITPR1 ENST00000302640 human ensembl 70_37 +1 known silent c.7215 p.F2405 1.000 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC JAKMIP3 282973 genome.wustl.edu 37 10 133976803 133976803 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 133976803 133976803 G C SNP JAKMIP3 ENST00000298622 human ensembl 70_37 +1 known missense c.2305 p.E769Q 0.992 NULL NULL - no_errors JAKMIP3 HGNC JMJD6 23210 genome.wustl.edu 37 17 74721712 74721712 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 74721712 74721712 C T SNP JMJD6 ENST00000445478 human ensembl 70_37 -1 known missense c.355 p.E119K 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD6 HGNC JMJD6 23210 genome.wustl.edu 37 17 74722527 74722527 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 74722527 74722527 C T SNP JMJD6 ENST00000445478 human ensembl 70_37 -1 known missense c.31 p.E11K 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD6 HGNC KALRN 8997 genome.wustl.edu 37 3 124376306 124376306 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 124376306 124376306 G C SNP KALRN ENST00000360013 human ensembl 70_37 +1 known missense c.5871 p.K1957N 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC KAT5 10524 genome.wustl.edu 37 11 65482041 65482041 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 65482041 65482041 G A SNP KAT5 ENST00000341318 human ensembl 70_37 +1 known missense c.766 p.D256N 1.000 NULL pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT5 HGNC KAT5 10524 genome.wustl.edu 37 11 65482375 65482375 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 65482375 65482375 G C SNP KAT5 ENST00000341318 human ensembl 70_37 +1 known missense c.1023 p.K341N 0.981 pfam_MOZ_SAS,superfamily_Acyl_CoA_acyltransferase pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT5 HGNC KAT7 11143 genome.wustl.edu 37 17 47866104 47866104 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 47866104 47866104 G C SNP KAT7 ENST00000509124 human ensembl 70_37 +1 known rna NULL NULL 0.993 - - - no_errors KAT7 HGNC KATNAL1 84056 genome.wustl.edu 37 13 30805526 30805526 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 30805526 30805526 G A SNP KATNAL1 ENST00000380615 human ensembl 70_37 -1 known silent c.810 p.F270 1.000 pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,smart_AAA+_ATPase - no_errors KATNAL1 HGNC KATNAL1 84056 genome.wustl.edu 37 13 30829630 30829630 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 30829630 30829630 G C SNP KATNAL1 ENST00000380615 human ensembl 70_37 -1 known missense c.446 p.S149C 0.351 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA-2,smart_AAA+_ATPase - no_errors KATNAL1 HGNC KBTBD7 84078 genome.wustl.edu 37 13 41766989 41766989 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 41766989 41766989 G A SNP KBTBD7 ENST00000379483 human ensembl 70_37 -1 known missense c.1405 p.P469S 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD7 HGNC KCNC1 3746 genome.wustl.edu 37 11 17758017 17758017 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 17758017 17758017 G A SNP KCNC1 ENST00000265969 human ensembl 70_37 +1 known silent c.468 p.A156 0.992 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_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC KCNJ14 3770 genome.wustl.edu 37 19 48965260 48965260 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 48965260 48965260 C G SNP KCNJ14 ENST00000342291 human ensembl 70_37 +1 known missense c.279 p.F93L 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir - no_errors KCNJ14 HGNC KCTD1 284252 genome.wustl.edu 37 18 24127690 24127690 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 18 24127690 24127690 C G SNP KCTD1 ENST00000417602 human ensembl 70_37 -1 known missense c.811 p.E271Q 1.000 NULL pfam_DUF3504,pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD1 HGNC KDM4B 23030 genome.wustl.edu 37 19 5144886 5144886 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 5144886 5144886 C T SNP KDM4B ENST00000159111 human ensembl 70_37 +1 known silent c.2994 p.I998 0.971 smart_Tudor pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC KDM8 79831 genome.wustl.edu 37 16 27226287 27226287 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 27226287 27226287 C T SNP KDM8 ENST00000441782 human ensembl 70_37 +1 known silent c.870 p.L290 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM8 HGNC KDR 3791 genome.wustl.edu 37 4 55946116 55946116 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 55946116 55946116 G C SNP KDR ENST00000263923 human ensembl 70_37 -1 known missense c.4063 p.P1355A 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-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_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors KDR HGNC KIAA0430 9665 genome.wustl.edu 37 16 15715763 15715763 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 15715763 15715763 C G SNP KIAA0430 ENST00000396368 human ensembl 70_37 -1 known missense c.2466 p.K822N 0.955 smart_RRM_dom,pfscan_RRM_dom pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC KIAA0754 643314 genome.wustl.edu 37 1 39878915 39878915 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 39878915 39878915 G C SNP KIAA0754 ENST00000530275 human ensembl 70_37 +1 known missense c.2570 p.R857T 0.000 NULL NULL - no_errors KIAA0754 HGNC KIAA1377 57562 genome.wustl.edu 37 11 101815077 101815077 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 101815077 101815077 G A SNP KIAA1377 ENST00000263468 human ensembl 70_37 +1 known silent c.330 p.K110 0.998 NULL NULL - no_errors KIAA1377 HGNC KIAA1522 57648 genome.wustl.edu 37 1 33237475 33237475 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 33237475 33237475 C G SNP KIAA1522 ENST00000401073 human ensembl 70_37 +1 known missense c.2695 p.P899A 0.000 NULL NULL - no_errors KIAA1522 HGNC KIAA1522 57648 genome.wustl.edu 37 1 33237623 33237623 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 33237623 33237623 C G SNP KIAA1522 ENST00000401073 human ensembl 70_37 +1 known nonsense c.2843 p.S948* 0.000 NULL NULL - no_errors KIAA1522 HGNC KIF11 3832 genome.wustl.edu 37 10 94389984 94389984 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 94389984 94389984 G C SNP KIF11 ENST00000260731 human ensembl 70_37 +1 known missense c.1357 p.D453H 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF11 HGNC KIF13A 63971 genome.wustl.edu 37 6 17826009 17826009 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 17826009 17826009 C T SNP KIF13A ENST00000259711 human ensembl 70_37 -1 known silent c.1776 p.L592 0.998 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC KIF13A 63971 genome.wustl.edu 37 6 17837725 17837725 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 17837725 17837725 G A SNP KIF13A ENST00000259711 human ensembl 70_37 -1 known missense c.920 p.S307L 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC KIF18A 81930 genome.wustl.edu 37 11 28112241 28112241 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 28112241 28112241 C G SNP KIF18A ENST00000263181 human ensembl 70_37 -1 known missense c.622 p.D208H 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC KIF18A 81930 genome.wustl.edu 37 11 28112262 28112262 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 28112262 28112262 C G SNP KIF18A ENST00000263181 human ensembl 70_37 -1 known missense c.601 p.E201Q 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC KIF21A 55605 genome.wustl.edu 37 12 39730978 39730978 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 39730978 39730978 C T SNP KIF21A ENST00000395670 human ensembl 70_37 -1 known missense c.2338 p.E780K 1.000 NULL pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21A HGNC KIF24 347240 genome.wustl.edu 37 9 34256848 34256848 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 34256848 34256848 C G SNP KIF24 ENST00000379166 human ensembl 70_37 -1 known missense c.2757 p.W919C 1.000 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 KIF6 221458 genome.wustl.edu 37 6 39398872 39398872 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 39398872 39398872 C T SNP KIF6 ENST00000287152 human ensembl 70_37 -1 known missense c.1711 p.D571N 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF6 HGNC KIT 3815 genome.wustl.edu 37 4 55603353 55603353 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 55603353 55603353 G A SNP KIT ENST00000288135 human ensembl 70_37 +1 known missense c.2709 p.M903I 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_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 - no_errors KIT HGNC KLC1 3831 genome.wustl.edu 37 14 104120978 104120978 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 104120978 104120978 C G SNP KLC1 ENST00000334553 human ensembl 70_37 +1 known missense c.77 p.S26C 0.780 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC1 HGNC KLHL20 27252 genome.wustl.edu 37 1 173743497 173743497 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 173743497 173743497 G T SNP KLHL20 ENST00000209884 human ensembl 70_37 +1 known missense c.1349 p.R450I 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL20 HGNC KLHL3 26249 genome.wustl.edu 37 5 136997701 136997701 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 136997701 136997701 G C SNP KLHL3 ENST00000309755 human ensembl 70_37 -1 known nonsense c.656 p.S219* 0.997 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL3 HGNC KLHL31 401265 genome.wustl.edu 37 6 53519746 53519746 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 53519746 53519746 G C SNP KLHL31 ENST00000370905 human ensembl 70_37 -1 known missense c.325 p.Q109E 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL31 HGNC KLRD1 3824 genome.wustl.edu 37 12 10464146 10464146 + Missense_Mutation SNP A A G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 10464146 10464146 A G SNP KLRD1 ENST00000381908 human ensembl 70_37 +1 known missense c.247 p.N83D 0.001 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRD1 HGNC KNDC1 85442 genome.wustl.edu 37 10 135011222 135011222 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 135011222 135011222 C G SNP KNDC1 ENST00000368572 human ensembl 70_37 +1 known nonsense c.1856 p.S619* 0.016 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC KNTC1 9735 genome.wustl.edu 37 12 123072416 123072416 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 123072416 123072416 G A SNP KNTC1 ENST00000333479 human ensembl 70_37 +1 known missense c.3889 p.E1297K 0.987 NULL 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 50275977 50275977 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 50275977 50275977 C G SNP KPNA3 ENST00000261667 human ensembl 70_37 -1 known missense c.1525 p.D509H 1.000 NULL pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA3 HGNC KRT14 3861 genome.wustl.edu 37 17 39742949 39742949 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 39742949 39742949 G A SNP KRT14 ENST00000167586 human ensembl 70_37 -1 known silent c.138 p.Y46 0.086 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT14 HGNC KRT23 25984 genome.wustl.edu 37 17 39079242 39079242 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 39079242 39079242 C T SNP KRT23 ENST00000209718 human ensembl 70_37 -1 known silent c.1268 p.*423 0.003 NULL pfam_F,prints_Keratin_I - no_errors KRT23 HGNC KRT33A 3883 genome.wustl.edu 37 17 39505616 39505616 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 39505616 39505616 G A SNP KRT33A ENST00000007735 human ensembl 70_37 -1 known missense c.413 p.S138L 0.587 pfam_F,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT33A HGNC KRT7 3855 genome.wustl.edu 37 12 52627214 52627214 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 52627214 52627214 C G SNP KRT7 ENST00000331817 human ensembl 70_37 +1 known nonsense c.134 p.S45* 0.145 NULL pfam_F,superfamily_Prefoldin,superfamily_Chorismate_mutase_type_II,prints_Keratin_II - no_errors KRT7 HGNC KRT85 3891 genome.wustl.edu 37 12 52758934 52758934 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 52758934 52758934 C G SNP KRT85 ENST00000257901 human ensembl 70_37 -1 known missense c.441 p.Q147H 1.000 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT85 HGNC KRTAP10-11 386678 genome.wustl.edu 37 21 46066404 46066404 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 46066404 46066404 C G SNP KRTAP10-11 ENST00000334670 human ensembl 70_37 +1 known missense c.29 p.S10C 1.000 NULL NULL - no_errors KRTAP10-11 HGNC KRTAP10-3 386682 genome.wustl.edu 37 21 45977948 45977948 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 45977948 45977948 C T SNP KRTAP10-3 ENST00000391620 human ensembl 70_37 -1 known silent c.651 p.Q217 0.220 NULL NULL - no_errors KRTAP10-3 HGNC KRTAP10-6 386674 genome.wustl.edu 37 21 46012207 46012207 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 46012207 46012207 C G SNP KRTAP10-6 ENST00000400368 human ensembl 70_37 -1 known silent c.159 p.L53 0.841 NULL NULL - no_errors KRTAP10-6 HGNC KRTAP5-2 440021 genome.wustl.edu 37 11 1619458 1619458 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 1619458 1619458 C G SNP KRTAP5-2 ENST00000412090 human ensembl 70_37 -1 known missense c.23 p.R8T 0.035 NULL NULL - no_errors KRTAP5-2 HGNC L1CAM 3897 genome.wustl.edu 37 X 153133896 153133896 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 153133896 153133896 G A SNP L1CAM ENST00000543994 human ensembl 70_37 -1 known nonsense c.1570 p.Q524* 0.158 pfam_Ig_I-set,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 LARGE 9215 genome.wustl.edu 37 22 33733679 33733679 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 33733679 33733679 G A SNP LARGE ENST00000354992 human ensembl 70_37 -1 known missense c.1240 p.R414W 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC LARP1 23367 genome.wustl.edu 37 5 154188117 154188117 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 154188117 154188117 G C SNP LARP1 ENST00000336314 human ensembl 70_37 +1 known missense c.2566 p.E856Q 1.000 smart_DM15 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC LBR 3930 genome.wustl.edu 37 1 225592163 225592163 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 225592163 225592163 G A SNP LBR ENST00000272163 human ensembl 70_37 -1 known missense c.1630 p.R544C 1.000 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_DUF1295 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC LCE3C 353144 genome.wustl.edu 37 1 152573352 152573352 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 152573352 152573352 G A SNP LCE3C ENST00000333881 human ensembl 70_37 +1 known missense c.145 p.E49K 0.927 NULL NULL - no_errors LCE3C HGNC LETM1 3954 genome.wustl.edu 37 4 1824792 1824792 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 1824792 1824792 C G SNP LETM1 ENST00000302787 human ensembl 70_37 -1 known missense c.1399 p.E467Q 1.000 NULL pfam_LETM1,pfscan_EF_HAND_2 - no_errors LETM1 HGNC LGALS9 3965 genome.wustl.edu 37 17 25958316 25958316 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 25958316 25958316 C T SNP LGALS9 ENST00000395473 human ensembl 70_37 +1 known missense c.25 p.P9S 0.013 superfamily_ConA-like_lec_gl_sf pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS9 HGNC LIN54 132660 genome.wustl.edu 37 4 83905683 83905683 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 83905683 83905683 C T SNP LIN54 ENST00000340417 human ensembl 70_37 -1 known silent c.315 p.Q105 1.000 NULL pfam_CRC - no_errors LIN54 HGNC LINC00269 100996279 genome.wustl.edu 37 X 68428293 68428293 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 68428293 68428293 C G SNP LINC00269 ENST00000399711 human ensembl 70_37 +1 known rna NULL NULL 0.013 - - - no_errors LINC00269 HGNC LINC00281 26080 genome.wustl.edu 37 22 21663083 21663083 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 21663083 21663083 G A SNP LINC00281 ENST00000436681 human ensembl 70_37 -1 known rna NULL NULL 0.611 - - - no_errors LINC00281 HGNC LINC00341 79686 genome.wustl.edu 37 14 95875614 95875614 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 95875614 95875614 C T SNP LINC00341 ENST00000464767 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors LINC00341 HGNC LIPA 3988 genome.wustl.edu 37 10 90983552 90983552 + Silent SNP A A G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 90983552 90983552 A G SNP LIPA ENST00000425287 human ensembl 70_37 -1 known silent c.717 p.S239 0.011 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,pfam_AB_hydrolase_lipase - no_errors LIPA HGNC LOC100129931 100129931 genome.wustl.edu 37 4 7033827 7033827 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 7033827 7033827 C G SNP LOC100129931 ENST00000500031 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-367J11.2 Clone_based_vega_gene LOC100130581 100130581 genome.wustl.edu 37 17 41456625 41456625 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 41456625 41456625 C T SNP LOC100130581 ENST00000341011 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-3014M21.4 Clone_based_vega_gene LOC100130894 100130894 genome.wustl.edu 37 16 70789069 70789069 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 70789069 70789069 C G SNP LOC100130894 ENST00000398177 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-394B2.4 Clone_based_vega_gene LOC100505624 100505624 genome.wustl.edu 37 2 27560101 27560101 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 27560101 27560101 C A SNP LOC100505624 ENST00000416453 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors AC109828.1 Clone_based_vega_gene LOC100506994 100506994 genome.wustl.edu 37 3 62262567 62262567 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 62262567 62262567 C G SNP LOC100506994 ENST00000466893 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-204J18.3 Clone_based_vega_gene LOC100507244 100507244 genome.wustl.edu 37 9 72787636 72787636 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 72787636 72787636 C T SNP LOC100507244 ENST00000420573 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-195E11.2 Clone_based_vega_gene LOC100507431 100507431 genome.wustl.edu 37 11 130724712 130724712 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 130724712 130724712 C T SNP LOC100507431 ENST00000533812 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-890B15.2 Clone_based_vega_gene LOC100653515 100653515 genome.wustl.edu 37 17 76887930 76887930 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 76887930 76887930 G A SNP LOC100653515 ENST00000322630 human ensembl 70_37 -1 putative missense c.656 p.P219L 0.000 NULL NULL - no_errors CTD-2373H9.6 Clone_based_vega_gene LOC219731 219731 genome.wustl.edu 37 10 11911485 11911485 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 11911485 11911485 C A SNP LOC219731 ENST00000445498 human ensembl 70_37 -1 known rna NULL NULL 0.053 - - - no_errors RP11-401F24.4 Clone_based_vega_gene LOC254099 254099 genome.wustl.edu 37 1 1078148 1078148 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 1078148 1078148 G A SNP LOC254099 ENST00000416774 human ensembl 70_37 +1 known rna NULL NULL 0.014 - - - no_errors RP11-465B22.5 Clone_based_vega_gene LOC284009 284009 genome.wustl.edu 37 17 2310167 2310167 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 2310167 2310167 G C SNP LOC284009 ENST00000571332 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors RP1-59D14.3 Clone_based_vega_gene LOC284100 284100 genome.wustl.edu 37 17 36214063 36214063 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 36214063 36214063 C T SNP LOC284100 ENST00000586509 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-115K3.2 Clone_based_vega_gene LOC344967 344967 genome.wustl.edu 37 4 40045257 40045257 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 40045257 40045257 G A SNP LOC344967 ENST00000381811 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-333E13.4 Clone_based_vega_gene LOC440570 440570 genome.wustl.edu 37 1 17198686 17198686 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 17198686 17198686 C A SNP LOC440570 ENST00000438002 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors RP11-108M9.3 Clone_based_vega_gene LOC550112 550112 genome.wustl.edu 37 4 68928799 68928799 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 68928799 68928799 G C SNP LOC550112 ENST00000499180 human ensembl 70_37 +1 known rna NULL NULL 0.370 - - - no_errors RP11-453E17.1 Clone_based_vega_gene LOC729444 729444 genome.wustl.edu 37 22 20343203 20343203 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 20343203 20343203 C T SNP LOC729444 ENST00000454636 human ensembl 70_37 +1 known rna NULL NULL 0.410 - - - no_errors XXbac-B33L19.3 Clone_based_vega_gene LPPR2 64748 genome.wustl.edu 37 19 11470166 11470166 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 11470166 11470166 C T SNP LPPR2 ENST00000586431 human ensembl 70_37 +1 novel rna NULL NULL 0.003 - - - no_errors LPPR2 Uniprot_genename LRIF1 55791 genome.wustl.edu 37 1 111494338 111494338 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 111494338 111494338 G C SNP LRIF1 ENST00000369763 human ensembl 70_37 -1 known missense c.1168 p.P390A 0.992 NULL NULL - no_errors LRIF1 HGNC LRP2 4036 genome.wustl.edu 37 2 169995136 169995136 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 169995136 169995136 C G SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known missense c.13469 p.G4490A 1.000 NULL 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 170011056 170011056 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 170011056 170011056 G C SNP LRP2 ENST00000263816 human ensembl 70_37 -1 known nonsense c.12209 p.S4070* 1.000 superfamily_Growth_fac_rcpt 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 LRP5 4041 genome.wustl.edu 37 11 68173992 68173992 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 68173992 68173992 G A SNP LRP5 ENST00000294304 human ensembl 70_37 +1 known missense c.1802 p.G601E 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6 pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC LRRC37A16P 651250 genome.wustl.edu 37 17 66137465 66137465 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 66137465 66137465 C T SNP LRRC37A16P ENST00000590019 human ensembl 70_37 -1 known rna NULL NULL 0.124 - - - no_errors LRRC37A16P HGNC LRRC41 10489 genome.wustl.edu 37 1 46745946 46745946 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 46745946 46745946 C G SNP LRRC41 ENST00000343304 human ensembl 70_37 -1 known silent c.1938 p.L646 0.999 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC LRRC42 115353 genome.wustl.edu 37 1 54417789 54417789 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 54417789 54417789 G A SNP LRRC42 ENST00000319223 human ensembl 70_37 +1 known silent c.117 p.Q39 0.985 NULL NULL - no_errors LRRC42 HGNC LRRC58 116064 genome.wustl.edu 37 3 120067653 120067653 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 120067653 120067653 C G SNP LRRC58 ENST00000295628 human ensembl 70_37 -1 known missense c.438 p.Q146H 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC58 HGNC LRRC63 220416 genome.wustl.edu 37 13 46824540 46824540 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 46824540 46824540 C T SNP LRRC63 ENST00000446175 human ensembl 70_37 +1 known silent c.1140 p.I380 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC63 HGNC LRRC63 220416 genome.wustl.edu 37 13 46824562 46824562 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 46824562 46824562 C G SNP LRRC63 ENST00000446175 human ensembl 70_37 +1 known missense c.1162 p.Q388E 0.026 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC63 HGNC LRSAM1 90678 genome.wustl.edu 37 9 130257502 130257502 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 130257502 130257502 G A SNP LRSAM1 ENST00000472592 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors LRSAM1 HGNC LSM14A 26065 genome.wustl.edu 37 19 34712417 34712417 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 34712417 34712417 G A SNP LSM14A ENST00000433627 human ensembl 70_37 +1 known missense c.1142 p.R381Q 0.993 NULL pfam_FDF_dom,superfamily_LSM_dom - no_errors LSM14A HGNC LSM4 25804 genome.wustl.edu 37 19 18418061 18418061 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 18418061 18418061 C A SNP LSM4 ENST00000252816 human ensembl 70_37 -1 known rna NULL NULL 0.099 - - - no_errors LSM4 HGNC LSS 4047 genome.wustl.edu 37 21 47635106 47635106 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 47635106 47635106 G C SNP LSS ENST00000356396 human ensembl 70_37 -1 known missense c.999 p.I333M 1.000 superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC LURAP1L 286343 genome.wustl.edu 37 9 12775994 12775994 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 12775994 12775994 G C SNP LURAP1L ENST00000319264 human ensembl 70_37 +1 known missense c.280 p.E94Q 1.000 NULL NULL - no_errors LURAP1L HGNC LY6G5B 58496 genome.wustl.edu 37 6 31638730 31638730 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 31638730 31638730 G C SNP LY6G5B ENST00000375864 human ensembl 70_37 +1 known missense c.3 p.M1I 0.048 NULL NULL - no_errors LY6G5B HGNC LYPD6 130574 genome.wustl.edu 37 2 150327251 150327251 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 150327251 150327251 G A SNP LYPD6 ENST00000334166 human ensembl 70_37 +1 known missense c.403 p.E135K 1.000 NULL pfam_LY6_UPAR - no_errors LYPD6 HGNC MAB21L1 4081 genome.wustl.edu 37 13 36050012 36050012 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 36050012 36050012 G A SNP MAB21L1 ENST00000379919 human ensembl 70_37 -1 known silent c.264 p.F88 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC MACF1 23499 genome.wustl.edu 37 1 39853530 39853530 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 39853530 39853530 G T SNP MACF1 ENST00000317713 human ensembl 70_37 +1 known nonsense c.8830 p.E2944* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin 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 MAD2L1BP 9587 genome.wustl.edu 37 6 43608105 43608105 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 43608105 43608105 C T SNP MAD2L1BP ENST00000451025 human ensembl 70_37 +1 known silent c.756 p.N252 0.993 pfam_MAD1/Cdc20-bound-Mad2-bd pfam_MAD1/Cdc20-bound-Mad2-bd - no_errors MAD2L1BP HGNC MADD 8567 genome.wustl.edu 37 11 47350214 47350214 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 47350214 47350214 G A SNP MADD ENST00000311027 human ensembl 70_37 +1 known missense c.4798 p.E1600K 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors MADD HGNC MAEA 10296 genome.wustl.edu 37 4 1316232 1316232 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 1316232 1316232 G A SNP MAEA ENST00000303400 human ensembl 70_37 +1 known missense c.520 p.E174K 1.000 smart_CTLH_C,pfscan_CTLH_C smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MAEA HGNC MAGEA8 4107 genome.wustl.edu 37 X 149013328 149013328 + Silent SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 149013328 149013328 G T SNP MAGEA8 ENST00000286482 human ensembl 70_37 +1 known silent c.282 p.G94 0.008 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA8 HGNC MAGEL2 54551 genome.wustl.edu 37 15 23890745 23890745 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 23890745 23890745 C T SNP MAGEL2 ENST00000532292 human ensembl 70_37 -1 known missense c.336 p.M112I 0.992 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC MAGI1 9223 genome.wustl.edu 37 3 65415613 65415613 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 65415613 65415613 C T SNP MAGI1 ENST00000402939 human ensembl 70_37 -1 known silent c.1749 p.V583 1.000 NULL pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI1 HGNC MAGT1 84061 genome.wustl.edu 37 X 77150956 77150956 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 77150956 77150956 G A SNP MAGT1 ENST00000358075 human ensembl 70_37 -1 known silent c.48 p.L16 0.008 NULL pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold - no_errors MAGT1 HGNC MAMLD1 10046 genome.wustl.edu 37 X 149680410 149680410 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 149680410 149680410 G C SNP MAMLD1 ENST00000432680 human ensembl 70_37 +1 known missense c.2064 p.Q688H 0.126 NULL NULL - no_errors MAMLD1 HGNC MANF 7873 genome.wustl.edu 37 3 51423719 51423719 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 51423719 51423719 G C SNP MANF ENST00000528157 human ensembl 70_37 +1 known missense c.175 p.E59Q 1.000 pfam_Armet_prot,superfamily_Saposin-like pfam_Armet_prot,superfamily_Saposin-like - no_errors MANF HGNC MAP1B 4131 genome.wustl.edu 37 5 71491658 71491658 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 71491658 71491658 G C SNP MAP1B ENST00000296755 human ensembl 70_37 +1 known missense c.2476 p.E826Q 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC MAP1S 55201 genome.wustl.edu 37 19 17838524 17838524 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 17838524 17838524 G A SNP MAP1S ENST00000324096 human ensembl 70_37 +1 known silent c.2331 p.L777 0.000 NULL NULL - no_errors MAP1S HGNC MAP3K1 4214 genome.wustl.edu 37 5 56155681 56155681 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 56155681 56155681 C T SNP MAP3K1 ENST00000399503 human ensembl 70_37 +1 novel missense c.773 p.S258L 0.915 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC MAP3K19 80122 genome.wustl.edu 37 2 135738993 135738993 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 135738993 135738993 C G SNP MAP3K19 ENST00000375845 human ensembl 70_37 -1 known silent c.3318 p.R1106 0.982 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K19 HGNC MAP3K19 80122 genome.wustl.edu 37 2 135744028 135744028 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 135744028 135744028 G C SNP MAP3K19 ENST00000375845 human ensembl 70_37 -1 known nonsense c.2414 p.S805* 0.997 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 MAP3K5 4217 genome.wustl.edu 37 6 136934374 136934374 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 136934374 136934374 G A SNP MAP3K5 ENST00000359015 human ensembl 70_37 -1 known missense c.2299 p.R767C 0.997 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,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 MAPKAPK3 7867 genome.wustl.edu 37 3 50684590 50684590 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 50684590 50684590 G A SNP MAPKAPK3 ENST00000357955 human ensembl 70_37 +1 known missense c.952 p.A318T 0.997 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAPKAPK3 HGNC MAST1 22983 genome.wustl.edu 37 19 12954416 12954416 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 12954416 12954416 G A SNP MAST1 ENST00000251472 human ensembl 70_37 +1 known missense c.322 p.V108I 0.993 pfam_MA_Ser/Thr_Kinase_dom pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST1 HGNC MAST3 23031 genome.wustl.edu 37 19 18255336 18255336 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 18255336 18255336 C G SNP MAST3 ENST00000262811 human ensembl 70_37 +1 known missense c.2558 p.S853C 0.995 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST3 HGNC MAST4 375449 genome.wustl.edu 37 5 66084548 66084548 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 66084548 66084548 G A SNP MAST4 ENST00000404260 human ensembl 70_37 +1 known missense c.568 p.A190T 0.029 NULL pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors MAST4 HGNC MBD5 55777 genome.wustl.edu 37 2 149226147 149226147 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 149226147 149226147 C G SNP MBD5 ENST00000407073 human ensembl 70_37 +1 known missense c.635 p.S212C 1.000 NULL superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP - no_errors MBD5 HGNC MBOAT7 79143 genome.wustl.edu 37 19 54677796 54677796 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 54677796 54677796 C T SNP MBOAT7 ENST00000245615 human ensembl 70_37 -1 known missense c.1361 p.R454Q 0.587 NULL pfam_MBOAT_fam - no_errors MBOAT7 HGNC MC2R 4158 genome.wustl.edu 37 18 13885164 13885164 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 18 13885164 13885164 G C SNP MC2R ENST00000327606 human ensembl 70_37 -1 known missense c.354 p.I118M 0.702 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn - no_errors MC2R HGNC MCC 4163 genome.wustl.edu 37 5 112363160 112363160 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 112363160 112363160 C G SNP MCC ENST00000302475 human ensembl 70_37 -1 known missense c.2329 p.E777Q 1.000 pfam_USH1C-bd_PDZ_domain pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC MDN1 23195 genome.wustl.edu 37 6 90383069 90383069 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 90383069 90383069 C G SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.13360 p.D4454H 0.028 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC MDN1 23195 genome.wustl.edu 37 6 90383842 90383842 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 90383842 90383842 C G SNP MDN1 ENST00000369393 human ensembl 70_37 -1 known missense c.13228 p.E4410Q 1.000 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC MDS2 259283 genome.wustl.edu 37 1 23908023 23908023 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 23908023 23908023 C G SNP MDS2 ENST00000477916 human ensembl 70_37 +1 known rna NULL NULL 0.539 - - - no_errors MDS2 HGNC MED11 400569 genome.wustl.edu 37 17 4636385 4636385 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 4636385 4636385 C T SNP MED11 ENST00000293777 human ensembl 70_37 +1 known missense c.257 p.S86L 0.989 pfam_Mediator_Med11 pfam_Mediator_Med11 - no_errors MED11 HGNC MED24 9862 genome.wustl.edu 37 17 38182491 38182491 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 38182491 38182491 C T SNP MED24 ENST00000394128 human ensembl 70_37 -1 known missense c.1903 p.E635K 1.000 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC MEF2D 4209 genome.wustl.edu 37 1 156446854 156446854 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 156446854 156446854 C A SNP MEF2D ENST00000348159 human ensembl 70_37 -1 known missense c.805 p.D269Y 1.000 NULL pfam_TF_MADSbox,pfam_HJURP_C,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox - no_errors MEF2D HGNC MEGF9 1955 genome.wustl.edu 37 9 123370233 123370233 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 123370233 123370233 C T SNP MEGF9 ENST00000426959 human ensembl 70_37 -1 known silent c.1254 p.P418 0.803 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF9 HGNC MEPE 56955 genome.wustl.edu 37 4 88767194 88767194 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 88767194 88767194 G A SNP MEPE ENST00000361056 human ensembl 70_37 +1 known missense c.1174 p.E392K 0.000 NULL pfam_Osteoregulin - no_errors MEPE HGNC METTL13 51603 genome.wustl.edu 37 1 171753007 171753007 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 171753007 171753007 G A SNP METTL13 ENST00000361735 human ensembl 70_37 +1 known missense c.281 p.R94Q 0.092 pfam_Methyltransf_11 pfam_Methyltransf_11,pfam_Spermidine/spermine_synthase - no_errors METTL13 HGNC MFAP1 4236 genome.wustl.edu 37 15 44106778 44106778 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 44106778 44106778 C T SNP MFAP1 ENST00000267812 human ensembl 70_37 -1 known missense c.538 p.E180K 1.000 pfam_MFAP1_C pfam_MFAP1_C - no_errors MFAP1 HGNC MFAP1 4236 genome.wustl.edu 37 15 44106805 44106805 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 44106805 44106805 C T SNP MFAP1 ENST00000267812 human ensembl 70_37 -1 known missense c.511 p.D171N 1.000 pfam_MFAP1_C pfam_MFAP1_C - no_errors MFAP1 HGNC MFAP1 4236 genome.wustl.edu 37 15 44109624 44109624 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 44109624 44109624 C T SNP MFAP1 ENST00000267812 human ensembl 70_37 -1 known silent c.102 p.V34 1.000 NULL pfam_MFAP1_C - no_errors MFAP1 HGNC MFAP4 4239 genome.wustl.edu 37 17 19290081 19290081 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 19290081 19290081 C T SNP MFAP4 ENST00000395592 human ensembl 70_37 -1 known missense c.149 p.R50Q 1.000 NULL pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C - no_errors MFAP4 HGNC MFSD11 79157 genome.wustl.edu 37 17 74735031 74735031 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 74735031 74735031 C T SNP MFSD11 ENST00000336509 human ensembl 70_37 +1 known silent c.108 p.I36 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 MFSD11 79157 genome.wustl.edu 37 17 74740547 74740547 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 74740547 74740547 G A SNP MFSD11 ENST00000336509 human ensembl 70_37 +1 known missense c.640 p.E214K 0.544 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 MGAM 8972 genome.wustl.edu 37 7 141727450 141727450 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 141727450 141727450 G C SNP MGAM ENST00000549489 human ensembl 70_37 +1 known missense c.1136 p.G379A 1.000 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 MGAM HGNC MGAT5 4249 genome.wustl.edu 37 2 135206278 135206278 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 135206278 135206278 G A SNP MGAT5 ENST00000281923 human ensembl 70_37 +1 known missense c.2086 p.D696N 0.997 NULL NULL - no_errors MGAT5 HGNC MGEA5 10724 genome.wustl.edu 37 10 103552510 103552510 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 103552510 103552510 G A SNP MGEA5 ENST00000492204 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MGEA5 HGNC MGRN1 23295 genome.wustl.edu 37 16 4738831 4738831 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 4738831 4738831 C T SNP MGRN1 ENST00000262370 human ensembl 70_37 +1 known silent c.1653 p.L551 0.218 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC MIA3 375056 genome.wustl.edu 37 1 222794559 222794559 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 222794559 222794559 G A SNP MIA3 ENST00000344441 human ensembl 70_37 +1 known silent c.192 p.V64 0.997 pfam_SH3_2,superfamily_SH3_domain pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC MINK1 50488 genome.wustl.edu 37 17 4795728 4795728 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 4795728 4795728 C T SNP MINK1 ENST00000355280 human ensembl 70_37 +1 known silent c.2119 p.L707 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 MINK1 HGNC MIR3193 100422904 genome.wustl.edu 37 20 30195015 30195015 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 30195015 30195015 G A SNP MIR3193 ENST00000578262 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR3193 HGNC MKLN1 4289 genome.wustl.edu 37 7 131155656 131155656 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 131155656 131155656 G T SNP MKLN1 ENST00000352689 human ensembl 70_37 +1 known missense c.1984 p.D662Y 1.000 NULL pfam_Muskelin_N,pfam_Kelch_1,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_LisH_dimerisation,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MKLN1 HGNC KMT2A 4297 genome.wustl.edu 37 11 118362470 118362470 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 118362470 118362470 G A SNP MLL ENST00000389506 human ensembl 70_37 +1 known missense c.4822 p.E1608K 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pirsf_MeTrfase_trithorax,pfscan_Znf_PHD-finger pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC KMT2B 9757 genome.wustl.edu 37 19 36217210 36217210 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 36217210 36217210 G C SNP MLL4 ENST00000222270 human ensembl 70_37 +1 known missense c.3959 p.G1320A 1.000 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_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_CXXC - no_errors WBP7 Uniprot_genename MLLT11 10962 genome.wustl.edu 37 1 151039932 151039932 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 151039932 151039932 C T SNP MLLT11 ENST00000368921 human ensembl 70_37 +1 known missense c.232 p.P78S 1.000 NULL NULL - no_errors MLLT11 HGNC MMAA 166785 genome.wustl.edu 37 4 146567305 146567305 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 146567305 146567305 G A SNP MMAA ENST00000281317 human ensembl 70_37 +1 known missense c.730 p.V244I 1.000 pfam_ArgK,pfam_CobW/HypB/UreG_dom,tigrfam_ArgK pfam_ArgK,pfam_CobW/HypB/UreG_dom,tigrfam_ArgK - no_errors MMAA HGNC MMP2 4313 genome.wustl.edu 37 16 55523672 55523672 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 55523672 55523672 G C SNP MMP2 ENST00000219070 human ensembl 70_37 +1 known missense c.1116 p.K372N 0.970 pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_Pept_M10_metallopeptidase,pfam_FN_type2_col-bd,pfam_Hemopexin/matrixin_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Kringle-like,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_FN_type2_col-bd,smart_Hemopexin/matrixin_repeat,pfscan_FN_type2_col-bd,prints_Pept_M10A_matrixin - no_errors MMP2 HGNC MN1 4330 genome.wustl.edu 37 22 28146820 28146820 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 28146820 28146820 G C SNP MN1 ENST00000497225 human ensembl 70_37 -1 putative rna NULL NULL 0.000 - - - no_errors MN1 HGNC MN1 4330 genome.wustl.edu 37 22 28146942 28146942 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 28146942 28146942 G C SNP MN1 ENST00000302326 human ensembl 70_37 -1 known missense c.3924 p.I1308M 1.000 NULL NULL - no_errors MN1 HGNC MNT 4335 genome.wustl.edu 37 17 2291254 2291254 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 2291254 2291254 G C SNP MNT ENST00000174618 human ensembl 70_37 -1 known silent c.897 p.L299 1.000 superfamily_HLH_dom pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors MNT HGNC MORC3 23515 genome.wustl.edu 37 21 37728969 37728969 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 37728969 37728969 G C SNP MORC3 ENST00000400485 human ensembl 70_37 +1 known missense c.1155 p.M385I 1.000 NULL pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC MORF4L2 9643 genome.wustl.edu 37 X 102941730 102941730 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 102941730 102941730 G C SNP MORF4L2 ENST00000498064 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors MORF4L2 HGNC MPDZ 8777 genome.wustl.edu 37 9 13126745 13126745 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 13126745 13126745 G A SNP MPDZ ENST00000319217 human ensembl 70_37 -1 known silent c.4491 p.I1497 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC MPDZ 8777 genome.wustl.edu 37 9 13140004 13140004 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 13140004 13140004 C T SNP MPDZ ENST00000319217 human ensembl 70_37 -1 known missense c.3985 p.E1329K 1.000 superfamily_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC MPHOSPH8 54737 genome.wustl.edu 37 13 20240607 20240607 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 20240607 20240607 G C SNP MPHOSPH8 ENST00000414242 human ensembl 70_37 +1 known missense c.2062 p.E688Q 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow - no_errors MPHOSPH8 HGNC MRGPRF 116535 genome.wustl.edu 37 11 68773105 68773105 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 68773105 68773105 C T SNP MRGPRF ENST00000309099 human ensembl 70_37 -1 known missense c.673 p.E225K 0.023 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRF HGNC MRI1 84245 genome.wustl.edu 37 19 13875437 13875437 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 13875437 13875437 C A SNP MRI1 ENST00000040663 human ensembl 70_37 +1 known missense c.35 p.S12Y 0.998 tigrfam_IF-2BI_MTNA pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d - no_errors MRI1 HGNC MRPS24 64951 genome.wustl.edu 37 7 43908607 43908607 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 43908607 43908607 G A SNP MRPS24 ENST00000317534 human ensembl 70_37 -1 known missense c.175 p.P59S 1.000 NULL NULL - no_errors MRPS24 HGNC MSH4 4438 genome.wustl.edu 37 1 76282183 76282183 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 76282183 76282183 C T SNP MSH4 ENST00000263187 human ensembl 70_37 +1 known missense c.941 p.S314L 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC MSI1 4440 genome.wustl.edu 37 12 120789175 120789175 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 120789175 120789175 C T SNP MSI1 ENST00000257552 human ensembl 70_37 -1 known silent c.762 p.P254 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MSI1 HGNC MTMR11 10903 genome.wustl.edu 37 1 149903282 149903282 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 149903282 149903282 G A SNP MTMR11 ENST00000439741 human ensembl 70_37 -1 known missense c.1160 p.S387L 1.000 NULL pfam_Myotubularin_assoc,pfam_Myotub-related - no_errors MTMR11 HGNC MTMR3 8897 genome.wustl.edu 37 22 30394787 30394787 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 30394787 30394787 G A SNP MTMR3 ENST00000401950 human ensembl 70_37 +1 known silent c.498 p.E166 1.000 NULL pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC MTO1 25821 genome.wustl.edu 37 6 74192328 74192328 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 74192328 74192328 G T SNP MTO1 ENST00000415954 human ensembl 70_37 +1 known missense c.1742 p.R581I 0.000 NULL pfam_GIDA-rel,pfam_FAD_bind_dom,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_GidA - no_errors MTO1 HGNC MTTP 4547 genome.wustl.edu 37 4 100516030 100516030 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 100516030 100516030 G A SNP MTTP ENST00000265517 human ensembl 70_37 +1 known missense c.899 p.G300E 0.506 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC MUC16 94025 genome.wustl.edu 37 19 9065029 9065029 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 9065029 9065029 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.22417 p.P7473S 0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9071439 9071439 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 9071439 9071439 G A SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.16007 p.S5336F 0.005 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC16 94025 genome.wustl.edu 37 19 9077593 9077593 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 9077593 9077593 G C SNP MUC16 ENST00000397910 human ensembl 70_37 -1 known missense c.9853 p.L3285V 0.042 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC MUC17 140453 genome.wustl.edu 37 7 100676823 100676823 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 100676823 100676823 C G SNP MUC17 ENST00000306151 human ensembl 70_37 +1 known nonsense c.2126 p.S709* 0.029 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC MUC4 4585 genome.wustl.edu 37 3 195513270 195513270 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 195513270 195513270 C T SNP MUC4 ENST00000463781 human ensembl 70_37 -1 known silent c.5181 p.T1727 0.669 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 1268333 1268333 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 1268333 1268333 C G SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known nonsense c.10232 p.S3411* 0.000 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 1275346 1275346 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 1275346 1275346 C T SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known missense c.15251 p.S5084F 0.048 pfam_VWF_type-D,smart_VWF_type-D 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 1276305 1276305 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 1276305 1276305 C G SNP MUC5B ENST00000447027 human ensembl 70_37 +1 known silent c.15708 p.L5236 0.727 pfam_VWF_type-D,smart_VWF_type-D 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 MYBBP1A 10514 genome.wustl.edu 37 17 4455782 4455782 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 4455782 4455782 C T SNP MYBBP1A ENST00000381556 human ensembl 70_37 -1 known missense c.701 p.G234E 1.000 pfam_DNA_pol_V,superfamily_ARM-type_fold pfam_DNA_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC MYBPC2 4606 genome.wustl.edu 37 19 50965290 50965290 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 50965290 50965290 G A SNP MYBPC2 ENST00000357701 human ensembl 70_37 +1 known silent c.3225 p.P1075 0.005 pfam_Ig_I-set,pfam_Immunoglobulin,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 MYBPC2 HGNC MYCBPAP 84073 genome.wustl.edu 37 17 48600348 48600348 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 48600348 48600348 G A SNP MYCBPAP ENST00000323776 human ensembl 70_37 +1 known missense c.1435 p.E479K 0.984 NULL NULL - no_errors MYCBPAP HGNC MYH10 4628 genome.wustl.edu 37 17 8397165 8397165 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 8397165 8397165 C G SNP MYH10 ENST00000396239 human ensembl 70_37 -1 known silent c.4065 p.L1355 0.985 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC MYH13 8735 genome.wustl.edu 37 17 10261124 10261124 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 10261124 10261124 G C SNP MYH13 ENST00000252172 human ensembl 70_37 -1 known missense c.666 p.I222M 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,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC MYH2 4620 genome.wustl.edu 37 17 10429087 10429087 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 10429087 10429087 C T SNP MYH2 ENST00000245503 human ensembl 70_37 -1 known missense c.4294 p.E1432K 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC MYH6 4624 genome.wustl.edu 37 14 23863481 23863481 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 23863481 23863481 C G SNP MYH6 ENST00000356287 human ensembl 70_37 -1 known missense c.2481 p.K827N 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 10297722 10297722 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 10297722 10297722 G A SNP MYH8 ENST00000403437 human ensembl 70_37 -1 known silent c.5010 p.L1670 0.999 pfam_Myosin_tail 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 MYL12A 10627 genome.wustl.edu 37 18 3255744 3255744 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 18 3255744 3255744 G A SNP MYL12A ENST00000217652 human ensembl 70_37 +1 known missense c.344 p.G115D 1.000 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors MYL12A HGNC MYO1C 4641 genome.wustl.edu 37 17 1371352 1371352 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 1371352 1371352 G C SNP MYO1C ENST00000359786 human ensembl 70_37 -1 known silent c.2826 p.L942 1.000 pfam_Myosin_tail_2 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 MYO1C HGNC MYO1D 4642 genome.wustl.edu 37 17 31048064 31048064 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 31048064 31048064 C T SNP MYO1D ENST00000318217 human ensembl 70_37 -1 known silent c.1890 p.Q630 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 MYO1D HGNC MYO7A 4647 genome.wustl.edu 37 11 76871234 76871234 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 76871234 76871234 G A SNP MYO7A ENST00000409709 human ensembl 70_37 +1 known missense c.1106 p.C369Y 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC MYOF 26509 genome.wustl.edu 37 10 95121295 95121295 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 95121295 95121295 G A SNP MYOF ENST00000359263 human ensembl 70_37 -1 known missense c.2888 p.S963L 0.930 smart_Peroxin/Ferlin 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 MYOM3 127294 genome.wustl.edu 37 1 24384003 24384003 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 24384003 24384003 C T SNP MYOM3 ENST00000330966 human ensembl 70_37 -1 known missense c.4174 p.E1392K 0.336 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like 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 MYOM3 HGNC MYT1L 23040 genome.wustl.edu 37 2 2057784 2057784 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 2057784 2057784 G A SNP MYT1L ENST00000479156 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors MYT1L HGNC MZB1 51237 genome.wustl.edu 37 5 138723467 138723467 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 138723467 138723467 C G SNP MZB1 ENST00000412103 human ensembl 70_37 -1 known missense c.281 p.R94T 0.019 NULL NULL - no_errors MZB1 HGNC MZB1 51237 genome.wustl.edu 37 5 138723536 138723536 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 138723536 138723536 C A SNP MZB1 ENST00000412103 human ensembl 70_37 -1 known missense c.212 p.R71L 0.000 NULL NULL - no_errors MZB1 HGNC N4BP2L2 10443 genome.wustl.edu 37 13 33110303 33110303 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 33110303 33110303 G C SNP N4BP2L2 ENST00000267068 human ensembl 70_37 -1 known missense c.862 p.H288D 0.997 NULL pfam_Zeta_toxin_domain - no_errors N4BP2L2 HGNC N6AMT1 29104 genome.wustl.edu 37 21 30255320 30255320 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 30255320 30255320 G A SNP N6AMT1 ENST00000303775 human ensembl 70_37 -1 known nonsense c.208 p.Q70* 0.772 pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,tigrfam_HemK-rel_arch pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,tigrfam_HemK-rel_arch - no_errors N6AMT1 HGNC NAA15 80155 genome.wustl.edu 37 4 140270728 140270728 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 140270728 140270728 C G SNP NAA15 ENST00000296543 human ensembl 70_37 +1 known silent c.804 p.L268 0.059 pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC NAA35 60560 genome.wustl.edu 37 9 88633650 88633650 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 88633650 88633650 C G SNP NAA35 ENST00000361671 human ensembl 70_37 +1 known missense c.1951 p.Q651E 1.000 NULL pfam_NatC_AcTrfase_Mak10 - no_errors NAA35 HGNC NAF1 92345 genome.wustl.edu 37 4 164069547 164069547 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 164069547 164069547 C T SNP NAF1 ENST00000274054 human ensembl 70_37 -1 known missense c.580 p.E194K 1.000 pfam_H/ACA_rnp_Gar1/Naf1 pfam_H/ACA_rnp_Gar1/Naf1,superfamily_Transl_elong_init/rib_B-barrel - no_errors NAF1 HGNC NAIF1 203245 genome.wustl.edu 37 9 130825812 130825812 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 130825812 130825812 G A SNP NAIF1 ENST00000373078 human ensembl 70_37 -1 known silent c.879 p.I293 0.458 NULL NULL - no_errors NAIF1 HGNC NANOGP1 404635 genome.wustl.edu 37 12 8050863 8050863 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 8050863 8050863 G A SNP NANOGP1 ENST00000530989 human ensembl 70_37 +1 known silent c.246 p.V82 0.858 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors NANOGP1 HGNC NAV1 89796 genome.wustl.edu 37 1 201781717 201781717 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 201781717 201781717 G A SNP NAV1 ENST00000367296 human ensembl 70_37 +1 known missense c.5149 p.D1717N 1.000 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC NAV2 89797 genome.wustl.edu 37 11 20078079 20078079 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 20078079 20078079 C T SNP NAV2 ENST00000396087 human ensembl 70_37 +1 known missense c.4904 p.S1635L 0.203 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC NBEAL1 65065 genome.wustl.edu 37 2 203972541 203972541 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 203972541 203972541 G C SNP NBEAL1 ENST00000449802 human ensembl 70_37 +1 known missense c.1492 p.D498H 0.947 superfamily_ARM-type_fold 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 NBL1 4681 genome.wustl.edu 37 1 19981643 19981643 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 19981643 19981643 C T SNP NBL1 ENST00000289749 human ensembl 70_37 +1 known silent c.225 p.I75 1.000 pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C - no_errors NBL1 HGNC NCAM2 4685 genome.wustl.edu 37 21 22906976 22906976 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 22906976 22906976 G C SNP NCAM2 ENST00000400546 human ensembl 70_37 +1 known missense c.2401 p.E801Q 1.000 NULL 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 NCAPH 23397 genome.wustl.edu 37 2 97019969 97019969 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 97019969 97019969 G C SNP NCAPH ENST00000240423 human ensembl 70_37 +1 known missense c.1051 p.D351H 1.000 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 - no_errors NCAPH HGNC NCF1B 654816 genome.wustl.edu 37 7 72640045 72640045 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 72640045 72640045 C T SNP NCF1B ENST00000432102 human ensembl 70_37 +1 known rna NULL NULL 0.994 - - - no_errors NCF1B HGNC NCOA1 8648 genome.wustl.edu 37 2 24930054 24930054 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 24930054 24930054 G C SNP NCOA1 ENST00000348332 human ensembl 70_37 +1 known missense c.1715 p.R572T 0.997 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_dom - no_errors NCOA1 HGNC NCOA7 135112 genome.wustl.edu 37 6 126249855 126249855 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 126249855 126249855 G A SNP NCOA7 ENST00000368357 human ensembl 70_37 +1 known missense c.2767 p.D923N 1.000 pfam_TLDc,smart_TLDc pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc - no_errors NCOA7 HGNC NDRG3 57446 genome.wustl.edu 37 20 35288785 35288785 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 35288785 35288785 G A SNP NDRG3 ENST00000349004 human ensembl 70_37 -1 known silent c.813 p.V271 1.000 pfam_Ndr pfam_Ndr,pfam_AB_hydrolase_1 - no_errors NDRG3 HGNC NDST4 64579 genome.wustl.edu 37 4 115891599 115891599 + Missense_Mutation SNP T T C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 115891599 115891599 T C SNP NDST4 ENST00000264363 human ensembl 70_37 -1 known missense c.1208 p.K403R 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST4 HGNC NDUFV1 4723 genome.wustl.edu 37 11 67374475 67374475 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 67374475 67374475 G C SNP NDUFV1 ENST00000524876 human ensembl 70_37 +1 known rna NULL NULL 0.993 - - - no_errors NDUFV1 HGNC NEK1 4750 genome.wustl.edu 37 4 170398404 170398404 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 170398404 170398404 G C SNP NEK1 ENST00000507142 human ensembl 70_37 -1 known missense c.2305 p.H769D 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC NFASC 23114 genome.wustl.edu 37 1 204985893 204985893 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 204985893 204985893 C T SNP NFASC ENST00000495396 human ensembl 70_37 +1 known rna NULL NULL 0.007 - - - no_errors NFASC HGNC NFATC1 4772 genome.wustl.edu 37 18 77170762 77170762 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 18 77170762 77170762 G A SNP NFATC1 ENST00000427363 human ensembl 70_37 +1 known missense c.487 p.E163K 1.000 NULL 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 NFATC1 HGNC NHS 4810 genome.wustl.edu 37 X 17710460 17710460 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 17710460 17710460 C T SNP NHS ENST00000380060 human ensembl 70_37 +1 known missense c.724 p.R242W 0.997 NULL NULL - no_errors NHS HGNC NLRP12 91662 genome.wustl.edu 37 19 54313719 54313719 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 54313719 54313719 G A SNP NLRP12 ENST00000324134 human ensembl 70_37 -1 known silent c.1194 p.F398 1.000 pfscan_NACHT_NTPase pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC NLRP5 126206 genome.wustl.edu 37 19 56539277 56539277 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 56539277 56539277 G T SNP NLRP5 ENST00000390649 human ensembl 70_37 +1 known nonsense c.1678 p.E560* 0.002 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC NOA1 84273 genome.wustl.edu 37 4 57829794 57829794 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 57829794 57829794 C G SNP NOA1 ENST00000264230 human ensembl 70_37 -1 known missense c.1919 p.R640T 0.355 NULL NULL - no_errors NOA1 HGNC NOTO 344022 genome.wustl.edu 37 2 73430134 73430134 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 73430134 73430134 C T SNP NOTO ENST00000398468 human ensembl 70_37 +1 known missense c.340 p.R114C 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors NOTO HGNC NOXO1 124056 genome.wustl.edu 37 16 2029514 2029514 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 2029514 2029514 C T SNP NOXO1 ENST00000397280 human ensembl 70_37 -1 known missense c.745 p.E249K 0.407 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors NOXO1 HGNC NPAP1 23742 genome.wustl.edu 37 15 24923152 24923152 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 24923152 24923152 C T SNP NPAP1 ENST00000329468 human ensembl 70_37 +1 known missense c.2138 p.S713F 0.000 NULL NULL - no_errors NPAP1 HGNC NPR3 4883 genome.wustl.edu 37 5 32710861 32710861 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 32710861 32710861 C T SNP NPR3 ENST00000415685 human ensembl 70_37 +1 known silent c.93 p.F31 0.005 NULL pfam_ANF_lig-bd_rcpt,prints_Ntpep_rcpt - no_errors NPR3 HGNC NPTN 27020 genome.wustl.edu 37 15 73925521 73925521 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 73925521 73925521 G C SNP NPTN ENST00000345330 human ensembl 70_37 -1 known silent c.36 p.L12 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_MFS_dom_general_subst_transpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors NPTN HGNC NPY1R 4886 genome.wustl.edu 37 4 164246841 164246841 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 164246841 164246841 C T SNP NPY1R ENST00000296533 human ensembl 70_37 -1 known missense c.769 p.E257K 0.998 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_Glucose_rcpt_Git3_N,pfscan_GPCR_Rhodpsn_7TM,prints_NPY1_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPY1R HGNC NR2C1 7181 genome.wustl.edu 37 12 95422188 95422188 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 95422188 95422188 C T SNP NR2C1 ENST00000333003 human ensembl 70_37 -1 known silent c.1506 p.L502 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_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors NR2C1 HGNC NRG3 10718 genome.wustl.edu 37 10 84738789 84738789 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 84738789 84738789 G A SNP NRG3 ENST00000404547 human ensembl 70_37 +1 known missense c.1496 p.R499Q 0.988 NULL pfscan_EG-like_dom - no_errors NRG3 HGNC NRXN2 9379 genome.wustl.edu 37 11 64428387 64428387 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 64428387 64428387 C T SNP NRXN2 ENST00000265459 human ensembl 70_37 -1 known missense c.2023 p.E675K 0.998 superfamily_ConA-like_lec_gl_sf,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 NRXN2 HGNC NSF 4905 genome.wustl.edu 37 17 44770331 44770331 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 44770331 44770331 G A SNP NSF ENST00000398238 human ensembl 70_37 +1 known silent c.1008 p.Q336 1.000 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Cdc48_dom2,pfam_CDC4_N-term_subdom,pfam_ATPase_AAA-2,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase - no_errors NSF HGNC NTS 4922 genome.wustl.edu 37 12 86276129 86276129 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 86276129 86276129 C G SNP NTS ENST00000256010 human ensembl 70_37 +1 known silent c.489 p.L163 1.000 pfam_NeurotensiN,prints_NeurotensiN pfam_NeurotensiN,prints_NeurotensiN - no_errors NTS HGNC NUDT10 170685 genome.wustl.edu 37 X 51075857 51075857 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 51075857 51075857 G A SNP NUDT10 ENST00000356450 human ensembl 70_37 +1 known missense c.40 p.E14K 1.000 superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT10 HGNC NUP62 23636 genome.wustl.edu 37 19 50412866 50412866 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 50412866 50412866 G C SNP NUP62 ENST00000352066 human ensembl 70_37 -1 known missense c.199 p.P67A 0.045 NULL pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC NUP85 79902 genome.wustl.edu 37 17 73208116 73208116 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 73208116 73208116 C T SNP NUP85 ENST00000245544 human ensembl 70_37 +1 known missense c.320 p.S107L 0.992 pfam_Nucleoporin_Nup85 pfam_Nucleoporin_Nup85 - no_errors NUP85 HGNC NUSAP1 51203 genome.wustl.edu 37 15 41625063 41625063 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 41625063 41625063 C G SNP NUSAP1 ENST00000558123 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors NUSAP1 HGNC NWD1 284434 genome.wustl.edu 37 19 16890254 16890254 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 16890254 16890254 C T SNP NWD1 ENST00000379808 human ensembl 70_37 +1 known silent c.2709 p.I903 0.055 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 NWD1 HGNC NXF4 55999 genome.wustl.edu 37 X 101818872 101818872 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 101818872 101818872 C G SNP NXF4 ENST00000360035 human ensembl 70_37 +1 known rna NULL NULL 0.031 - - - no_errors NXF4 HGNC NXF5 55998 genome.wustl.edu 37 X 101096477 101096477 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 101096477 101096477 C T SNP NXF5 ENST00000263032 human ensembl 70_37 -1 known silent c.294 p.L98 0.948 NULL pfam_Tap_RNA-bd - no_errors NXF5 HGNC NXPH2 11249 genome.wustl.edu 37 2 139428861 139428861 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 139428861 139428861 G A SNP NXPH2 ENST00000272641 human ensembl 70_37 -1 known silent c.426 p.F142 1.000 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH2 HGNC OAS1 4938 genome.wustl.edu 37 12 113355471 113355471 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 113355471 113355471 G C SNP OAS1 ENST00000445409 human ensembl 70_37 +1 known missense c.1004 p.W335S 0.006 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS1 HGNC OBP2B 29989 genome.wustl.edu 37 9 136081736 136081736 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 136081736 136081736 G C SNP OBP2B ENST00000372034 human ensembl 70_37 -1 known silent c.456 p.L152 0.013 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_PstgldnD_synth pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland,prints_PstgldnD_synth - no_errors OBP2B HGNC OBSCN 84033 genome.wustl.edu 37 1 228402796 228402796 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 228402796 228402796 C A SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.1825 p.L609M 1.000 superfamily_Fibronectin_type3 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 228559841 228559841 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 228559841 228559841 C T SNP OBSCN ENST00000422127 human ensembl 70_37 +1 known missense c.21362 p.S7121F 0.000 NULL 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 OBSL1 23363 genome.wustl.edu 37 2 220419452 220419452 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 220419452 220419452 C T SNP OBSL1 ENST00000404537 human ensembl 70_37 -1 known silent c.4620 p.L1540 0.041 NULL 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 OCM2 4951 genome.wustl.edu 37 7 97617814 97617814 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 97617814 97617814 G C SNP OCM2 ENST00000257627 human ensembl 70_37 -1 known silent c.108 p.L36 0.999 prints_Parvalbumin smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Parvalbumin - no_errors OCM2 HGNC OGG1 4968 genome.wustl.edu 37 3 9791867 9791867 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 9791867 9791867 G A SNP OGG1 ENST00000436092 human ensembl 70_37 +1 putative rna NULL NULL 0.000 - - - no_errors OGG1 HGNC OPRM1 4988 genome.wustl.edu 37 6 154412697 154412697 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 154412697 154412697 G C SNP OPRM1 ENST00000522382 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors OPRM1 HGNC OR10G2 26534 genome.wustl.edu 37 14 22102290 22102290 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 22102290 22102290 C T SNP OR10G2 ENST00000542433 human ensembl 70_37 -1 known missense c.709 p.D237N 0.772 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G2 HGNC OR1I1 126370 genome.wustl.edu 37 19 15198871 15198871 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 15198871 15198871 G C SNP OR1I1 ENST00000209540 human ensembl 70_37 +1 known missense c.995 p.R332T 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1I1 HGNC OR1S1 219959 genome.wustl.edu 37 11 57982586 57982586 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 57982586 57982586 G A SNP OR1S1 ENST00000309433 human ensembl 70_37 +1 known missense c.370 p.D124N 0.004 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 OR1S1 HGNC OR1S1 219959 genome.wustl.edu 37 11 57983057 57983057 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 57983057 57983057 G C SNP OR1S1 ENST00000309433 human ensembl 70_37 +1 known missense c.841 p.E281Q 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1S1 HGNC OR2AK2 391191 genome.wustl.edu 37 1 248128661 248128661 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 248128661 248128661 G C SNP OR2AK2 ENST00000366480 human ensembl 70_37 +1 known missense c.28 p.D10H 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2AK2 HGNC OR2T33 391195 genome.wustl.edu 37 1 248437015 248437015 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 248437015 248437015 C G SNP OR2T33 ENST00000318021 human ensembl 70_37 -1 known missense c.102 p.L34F 0.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T33 HGNC OR4A16 81327 genome.wustl.edu 37 11 55111510 55111510 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 55111510 55111510 C T SNP OR4A16 ENST00000314721 human ensembl 70_37 +1 known silent c.834 p.L278 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC OR4C3 256144 genome.wustl.edu 37 11 48346555 48346555 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 48346555 48346555 C G SNP OR4C3 ENST00000319856 human ensembl 70_37 +1 known missense c.63 p.F21L 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C3 HGNC OR4F13P 390651 genome.wustl.edu 37 15 102389537 102389537 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 102389537 102389537 C G SNP OR4F13P ENST00000560066 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors OR4F13P HGNC OR4K13 390433 genome.wustl.edu 37 14 20502384 20502384 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 20502384 20502384 G T SNP OR4K13 ENST00000315693 human ensembl 70_37 -1 known missense c.534 p.F178L 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 OR4K13 HGNC OR5M1 390168 genome.wustl.edu 37 11 56380559 56380559 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 56380559 56380559 G C SNP OR5M1 ENST00000526538 human ensembl 70_37 -1 known missense c.420 p.I140M 0.000 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 OR5M1 HGNC OR8H3 390152 genome.wustl.edu 37 11 55890695 55890695 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 55890695 55890695 C G SNP OR8H3 ENST00000313472 human ensembl 70_37 +1 known missense c.847 p.P283A 0.992 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8H3 HGNC OR9Q1 219956 genome.wustl.edu 37 11 57947066 57947066 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 57947066 57947066 C T SNP OR9Q1 ENST00000335397 human ensembl 70_37 +1 known silent c.150 p.L50 0.000 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 OR9Q1 HGNC OSBPL9 114883 genome.wustl.edu 37 1 52179728 52179728 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 52179728 52179728 C G SNP OSBPL9 ENST00000371710 human ensembl 70_37 +1 known missense c.349 p.L117V 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL9 HGNC OSGEPL1 64172 genome.wustl.edu 37 2 190618675 190618675 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 190618675 190618675 C G SNP OSGEPL1 ENST00000264151 human ensembl 70_37 -1 known missense c.930 p.Q310H 0.999 pfam_Gcp-like_dom,tigrfam_KAE1/YgjD pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD - no_errors OSGEPL1 HGNC OTOF 9381 genome.wustl.edu 37 2 26702252 26702252 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 26702252 26702252 C A SNP OTOF ENST00000272371 human ensembl 70_37 -1 known missense c.2094 p.R698S 1.000 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors OTOF HGNC OTOGL 283310 genome.wustl.edu 37 12 80647248 80647248 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 80647248 80647248 C T SNP OTOGL ENST00000458043 human ensembl 70_37 +1 known missense c.1261 p.L421F 1.000 pfam_TIL_dom,superfamily_TIL_dom 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 OTOP1 133060 genome.wustl.edu 37 4 4190672 4190672 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 4190672 4190672 C G SNP OTOP1 ENST00000296358 human ensembl 70_37 -1 known missense c.1697 p.R566P 1.000 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP1 HGNC OTUD7B 56957 genome.wustl.edu 37 1 149921607 149921607 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 149921607 149921607 G A SNP OTUD7B ENST00000369135 human ensembl 70_37 -1 known silent c.1048 p.L350 1.000 pfam_OTU,pfscan_OTU pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC OXSR1 9943 genome.wustl.edu 37 3 38240323 38240323 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 38240323 38240323 G A SNP OXSR1 ENST00000311806 human ensembl 70_37 +1 known missense c.403 p.E135K 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_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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors OXSR1 HGNC PADI1 29943 genome.wustl.edu 37 1 17567243 17567243 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 17567243 17567243 C T SNP PADI1 ENST00000375471 human ensembl 70_37 +1 known silent c.1746 p.F582 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI1 HGNC PAFAH1B1 5048 genome.wustl.edu 37 17 2585020 2585020 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 2585020 2585020 C T SNP PAFAH1B1 ENST00000574213 human ensembl 70_37 +1 putative rna NULL NULL 1.000 - - - no_errors PAFAH1B1 HGNC PAGE2B 389860 genome.wustl.edu 37 X 55102509 55102509 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 55102509 55102509 C T SNP PAGE2B ENST00000374971 human ensembl 70_37 +1 known missense c.35 p.S12L 0.000 pfam_GAGE pfam_GAGE - no_errors PAGE2B HGNC PAICS 10606 genome.wustl.edu 37 4 57312951 57312951 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 57312951 57312951 G A SNP PAICS ENST00000264221 human ensembl 70_37 +1 known missense c.305 p.R102K 1.000 pfam_SAICAR_synth pfam_SAICAR_synth,pfam_N5-CAIR_Mutase_PurE_dom,superfamily_N5-CAIR_Mutase_PurE_dom,tigrfam_N5-CAIR_Mutase_PurE_dom - no_errors PAICS HGNC PALB2 79728 genome.wustl.edu 37 16 23619253 23619253 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 23619253 23619253 C G SNP PALB2 ENST00000261584 human ensembl 70_37 -1 known silent c.3282 p.V1094 0.088 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom - no_errors PALB2 HGNC PANK3 79646 genome.wustl.edu 37 5 167990942 167990942 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 167990942 167990942 C T SNP PANK3 ENST00000239231 human ensembl 70_37 -1 known missense c.764 p.G255E 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK3 HGNC PAPSS2 9060 genome.wustl.edu 37 10 89419750 89419750 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 89419750 89419750 C G SNP PAPSS2 ENST00000456849 human ensembl 70_37 +1 known missense c.12 p.I4M 0.965 NULL pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS2 HGNC PAPSS2 9060 genome.wustl.edu 37 10 89473852 89473852 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 89473852 89473852 G C SNP PAPSS2 ENST00000456849 human ensembl 70_37 +1 known missense c.433 p.E145Q 1.000 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 PAPSS2 HGNC PARD3 56288 genome.wustl.edu 37 10 34649003 34649003 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 34649003 34649003 G C SNP PARD3 ENST00000374789 human ensembl 70_37 -1 known missense c.1892 p.S631C 0.999 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC PARVB 29780 genome.wustl.edu 37 22 44547423 44547423 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 44547423 44547423 G A SNP PARVB ENST00000406477 human ensembl 70_37 +1 known missense c.934 p.E312K 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVB HGNC PATL1 219988 genome.wustl.edu 37 11 59426377 59426377 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 59426377 59426377 C G SNP PATL1 ENST00000300146 human ensembl 70_37 -1 known missense c.388 p.E130Q 1.000 pfam_Topo_II-assoc_PAT1 pfam_Topo_II-assoc_PAT1 - no_errors PATL1 HGNC PBXIP1 57326 genome.wustl.edu 37 1 154924206 154924206 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 154924206 154924206 G C SNP PBXIP1 ENST00000493133 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PBXIP1 HGNC PCCB 5096 genome.wustl.edu 37 3 135980905 135980905 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 135980905 135980905 C T SNP PCCB ENST00000251654 human ensembl 70_37 +1 known silent c.541 p.L181 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_N pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors PCCB HGNC PCDH19 57526 genome.wustl.edu 37 X 99597021 99597021 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 99597021 99597021 C T SNP PCDH19 ENST00000373034 human ensembl 70_37 -1 known missense c.2728 p.E910K 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC PCDHA11 56138 genome.wustl.edu 37 5 140249474 140249474 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 140249474 140249474 C G SNP PCDHA11 ENST00000398640 human ensembl 70_37 +1 known silent c.786 p.L262 0.000 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 PCDHA11 HGNC PCDHA13 56136 genome.wustl.edu 37 5 140262969 140262969 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 140262969 140262969 C T SNP PCDHA13 ENST00000289272 human ensembl 70_37 +1 known silent c.1116 p.I372 0.110 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 PCDHA5 56143 genome.wustl.edu 37 5 140201806 140201806 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 140201806 140201806 C G SNP PCDHA5 ENST00000529859 human ensembl 70_37 +1 known missense c.446 p.S149W 0.454 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC PCDHB15 56121 genome.wustl.edu 37 5 140625700 140625700 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 140625700 140625700 G C SNP PCDHB15 ENST00000231173 human ensembl 70_37 +1 known missense c.554 p.R185P 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 PCDHB15 HGNC PCDHB18 54660 genome.wustl.edu 37 5 140616070 140616070 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 140616070 140616070 C T SNP PCDHB18 ENST00000526308 human ensembl 70_37 +1 known rna NULL NULL 0.997 - - - no_errors PCDHB18 HGNC PCDHB3 56132 genome.wustl.edu 37 5 140482531 140482531 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 140482531 140482531 C G SNP PCDHB3 ENST00000231130 human ensembl 70_37 +1 known missense c.2298 p.F766L 0.964 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC PCGF1 84759 genome.wustl.edu 37 2 74732735 74732735 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 74732735 74732735 C T SNP PCGF1 ENST00000233630 human ensembl 70_37 -1 known missense c.595 p.E199K 0.998 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF1 HGNC PCLO 27445 genome.wustl.edu 37 7 82544421 82544421 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 82544421 82544421 C G SNP PCLO ENST00000333891 human ensembl 70_37 -1 known missense c.12881 p.R4294T 0.998 NULL pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ - no_errors PCLO HGNC PCMTD2 55251 genome.wustl.edu 37 20 62891509 62891509 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 62891509 62891509 C G SNP PCMTD2 ENST00000308824 human ensembl 70_37 +1 known nonsense c.191 p.S64* 1.000 pfam_PCMT pfam_PCMT - no_errors PCMTD2 HGNC PCNXL2 80003 genome.wustl.edu 37 1 233394164 233394164 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 233394164 233394164 G T SNP PCNXL2 ENST00000258229 human ensembl 70_37 -1 known missense c.1444 p.H482N 0.000 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC PCNXL2 80003 genome.wustl.edu 37 1 233394695 233394695 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 233394695 233394695 G A SNP PCNXL2 ENST00000258229 human ensembl 70_37 -1 known nonsense c.913 p.Q305* 0.037 NULL pfam_Pecanex,superfamily_Pept_cys/ser_Trypsin-like - no_errors PCNXL2 HGNC PCOLCE2 26577 genome.wustl.edu 37 3 142567129 142567129 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 142567129 142567129 C G SNP PCOLCE2 ENST00000295992 human ensembl 70_37 -1 known missense c.378 p.M126I 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Netrin_module_non-TIMP,superfamily_CUB,superfamily_TIMP-like_OB-fold,smart_CUB,smart_Netrin_module_non-TIMP,pfscan_CUB,pfscan_Netrin_domain - no_errors PCOLCE2 HGNC PCYT2 5833 genome.wustl.edu 37 17 79863284 79863284 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 79863284 79863284 C T SNP PCYT2 ENST00000538721 human ensembl 70_37 -1 known missense c.997 p.D333N 1.000 NULL pfam_Cytidylyltransf,tigrfam_Cyt_trans-like - no_errors PCYT2 HGNC PDAP1 11333 genome.wustl.edu 37 7 99001128 99001128 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 99001128 99001128 C T SNP PDAP1 ENST00000350498 human ensembl 70_37 -1 known missense c.106 p.E36K 1.000 NULL pfam_Casein_kinase_sb_PP28 - no_errors PDAP1 HGNC PDE1C 5137 genome.wustl.edu 37 7 31917616 31917616 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 31917616 31917616 C T SNP PDE1C ENST00000321453 human ensembl 70_37 -1 known silent c.459 p.L153 0.997 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC PDHB 5162 genome.wustl.edu 37 3 58413856 58413856 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 58413856 58413856 C T SNP PDHB ENST00000302746 human ensembl 70_37 -1 known missense c.985 p.D329N 1.000 pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors PDHB HGNC PDZD2 23037 genome.wustl.edu 37 5 32088709 32088709 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 32088709 32088709 C A SNP PDZD2 ENST00000282493 human ensembl 70_37 +1 known missense c.5155 p.H1719N 0.001 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC PEAK1 79834 genome.wustl.edu 37 15 77406906 77406906 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 77406906 77406906 C T SNP PEAK1 ENST00000312493 human ensembl 70_37 -1 known silent c.4833 p.E1611 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,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,pfscan_Prot_kinase_cat_dom - no_errors PEAK1 Uniprot_genename PER1 5187 genome.wustl.edu 37 17 8045610 8045610 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 8045610 8045610 C T SNP PER1 ENST00000317276 human ensembl 70_37 -1 known missense c.3426 p.M1142I 1.000 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors PER1 HGNC PER3 8863 genome.wustl.edu 37 1 7863191 7863191 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 7863191 7863191 G C SNP PER3 ENST00000361923 human ensembl 70_37 +1 known silent c.954 p.L318 0.984 pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC PEX5 5830 genome.wustl.edu 37 12 7361104 7361104 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 7361104 7361104 G C SNP PEX5 ENST00000434354 human ensembl 70_37 +1 known silent c.1278 p.V426 0.327 pfscan_TPR-contain_dom pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5 HGNC PGM1 5236 genome.wustl.edu 37 1 64117280 64117280 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 64117280 64117280 G C SNP PGM1 ENST00000483707 human ensembl 70_37 +1 known rna NULL NULL 0.003 - - - no_errors PGM1 HGNC PHB2 11331 genome.wustl.edu 37 12 7077021 7077021 + Nonstop_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 7077021 7077021 C G SNP PHB2 ENST00000543465 human ensembl 70_37 -1 known nonstop c.641 p.*214S 0.007 NULL pfam_Band_7,smart_Band_7,prints_Prohibitin - no_errors PHB2 HGNC PHB2 11331 genome.wustl.edu 37 12 7077636 7077636 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 7077636 7077636 C G SNP PHB2 ENST00000399433 human ensembl 70_37 -1 known missense c.415 p.E139Q 1.000 pfam_Band_7,smart_Band_7,prints_Prohibitin pfam_Band_7,smart_Band_7,prints_Prohibitin - no_errors PHB2 HGNC PHF15 23338 genome.wustl.edu 37 5 133873703 133873703 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 133873703 133873703 C G SNP PHF15 ENST00000448712 human ensembl 70_37 +1 known nonsense c.131 p.S44* 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF15 HGNC PHKA1 5255 genome.wustl.edu 37 X 71800867 71800867 + Silent SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 71800867 71800867 G T SNP PHKA1 ENST00000373539 human ensembl 70_37 -1 known silent c.3708 p.I1236 0.967 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC PHOSPHO2 493911 genome.wustl.edu 37 2 170557671 170557671 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 170557671 170557671 G C SNP PHOSPHO2 ENST00000359744 human ensembl 70_37 +1 known missense c.190 p.E64Q 1.000 pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PHOSPHO2 HGNC PHOSPHO2 493911 genome.wustl.edu 37 2 170557827 170557827 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 170557827 170557827 G C SNP PHOSPHO2 ENST00000359744 human ensembl 70_37 +1 known missense c.346 p.D116H 0.004 pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PHOSPHO2 HGNC PIAS3 10401 genome.wustl.edu 37 1 145579296 145579296 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 145579296 145579296 C G SNP PIAS3 ENST00000393045 human ensembl 70_37 +1 known silent c.633 p.L211 1.000 NULL pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd - no_errors PIAS3 HGNC PIAS3 10401 genome.wustl.edu 37 1 145584227 145584227 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 145584227 145584227 G A SNP PIAS3 ENST00000393045 human ensembl 70_37 +1 known missense c.1378 p.D460N 1.000 NULL pfam_Znf_MIZ,smart_SAP_DNA-bd,pfscan_Znf_MIZ,pfscan_SAP_DNA-bd - no_errors PIAS3 HGNC PIK3C2B 5287 genome.wustl.edu 37 1 204400760 204400760 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 204400760 204400760 G A SNP PIK3C2B ENST00000462752 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PIK3C2B HGNC PIK3C2G 5288 genome.wustl.edu 37 12 18715808 18715808 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 18715808 18715808 C T SNP PIK3C2G ENST00000538779 human ensembl 70_37 +1 known silent c.3762 p.F1254 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox 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 PIK3CD 5293 genome.wustl.edu 37 1 9784411 9784411 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 9784411 9784411 C T SNP PIK3CD ENST00000536656 human ensembl 70_37 +1 known silent c.2868 p.F956 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_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-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 PIK3CD HGNC PIK3R3 8503 genome.wustl.edu 37 1 46512224 46512224 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 46512224 46512224 C T SNP PIK3R3 ENST00000540385 human ensembl 70_37 -1 known missense c.1153 p.E385K 1.000 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC PILRA 29992 genome.wustl.edu 37 7 99997548 99997548 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 99997548 99997548 C T SNP PILRA ENST00000453419 human ensembl 70_37 +1 novel nonsense c.673 p.Q225* 0.001 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors PILRA HGNC PIM1 5292 genome.wustl.edu 37 6 37138618 37138618 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 37138618 37138618 C G SNP PIM1 ENST00000373509 human ensembl 70_37 +1 known missense c.152 p.S51W 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,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PIM1 HGNC PIRT 644139 genome.wustl.edu 37 17 10728847 10728847 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 10728847 10728847 G A SNP PIRT ENST00000580256 human ensembl 70_37 -1 known missense c.116 p.S39F 1.000 NULL NULL - no_errors PIRT HGNC PITPNA 5306 genome.wustl.edu 37 17 1456312 1456312 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 1456312 1456312 G C SNP PITPNA ENST00000313486 human ensembl 70_37 -1 known missense c.183 p.I61M 1.000 pfam_PI_transfer pfam_PI_transfer,prints_PI_transfer - no_errors PITPNA HGNC PKD1 5310 genome.wustl.edu 37 16 2139796 2139796 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 2139796 2139796 C G SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known missense c.12844 p.D4282H 0.004 NULL pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC PKD1 5310 genome.wustl.edu 37 16 2158445 2158445 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 2158445 2158445 C G SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known silent c.6723 p.L2241 0.900 pfam_PKD/REJ-like,pfscan_REJ-like,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC PKD1 5310 genome.wustl.edu 37 16 2161289 2161289 + Silent SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 2161289 2161289 G T SNP PKD1 ENST00000262304 human ensembl 70_37 -1 known silent c.3879 p.V1293 1.000 superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC PKD1L3 342372 genome.wustl.edu 37 16 71986853 71986853 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 71986853 71986853 G C SNP PKD1L3 ENST00000335106 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors PKD1L3 HGNC PKDCC 91461 genome.wustl.edu 37 2 42275817 42275817 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 42275817 42275817 G A SNP PKDCC ENST00000294964 human ensembl 70_37 +1 known missense c.478 p.G160S 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_errors PKDCC HGNC PKHD1L1 93035 genome.wustl.edu 37 8 110400737 110400737 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 110400737 110400737 G A SNP PKHD1L1 ENST00000378402 human ensembl 70_37 +1 known missense c.581 p.G194E 1.000 pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt 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 PKMYT1 9088 genome.wustl.edu 37 16 3025764 3025764 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 3025764 3025764 G T SNP PKMYT1 ENST00000262300 human ensembl 70_37 -1 known nonsense c.428 p.S143* 0.987 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_Tyr/Thr_kinase_Cdc2_inhib,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,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_cat_dom - no_errors PKMYT1 HGNC TINCR 257000 genome.wustl.edu 37 19 5562149 5562149 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 5562149 5562149 C G SNP PLAC2 ENST00000448587 human ensembl 70_37 -1 known rna NULL NULL 0.005 - - - no_errors PLAC2 HGNC PLCB1 23236 genome.wustl.edu 37 20 8665705 8665705 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 8665705 8665705 C T SNP PLCB1 ENST00000338037 human ensembl 70_37 +1 known missense c.989 p.S330L 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom 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 PLCB3 5331 genome.wustl.edu 37 11 64026147 64026147 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 64026147 64026147 C G SNP PLCB3 ENST00000279230 human ensembl 70_37 +1 known silent c.1215 p.P405 1.000 pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC PLCXD3 345557 genome.wustl.edu 37 5 41510616 41510616 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 41510616 41510616 G A SNP PLCXD3 ENST00000328457 human ensembl 70_37 -1 known nonsense c.13 p.Q5* 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD3 HGNC PLEKHM3 389072 genome.wustl.edu 37 2 208693146 208693146 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 208693146 208693146 C T SNP PLEKHM3 ENST00000427836 human ensembl 70_37 -1 known missense c.2183 p.R728Q 0.990 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHM3 HGNC PLXNA4 91584 genome.wustl.edu 37 7 131853272 131853272 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 131853272 131853272 G A SNP PLXNA4 ENST00000321063 human ensembl 70_37 -1 known silent c.4077 p.I1359 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA4 HGNC PMS2P3 5387 genome.wustl.edu 37 7 75145447 75145447 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 75145447 75145447 C G SNP PMS2P3 ENST00000394921 human ensembl 70_37 -1 known rna NULL NULL 0.998 - - - no_errors PMS2P3 HGNC PMVK 10654 genome.wustl.edu 37 1 154904829 154904829 + Missense_Mutation SNP T T A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 154904829 154904829 T A SNP PMVK ENST00000368467 human ensembl 70_37 -1 known missense c.158 p.Q53L 1.000 pfam_Pmev_kin_anim,pirsf_Pmev_kin_anim,tigrfam_Pmev_kin_anim pfam_Pmev_kin_anim,pirsf_Pmev_kin_anim,tigrfam_Pmev_kin_anim - no_errors PMVK HGNC PNISR 25957 genome.wustl.edu 37 6 99854029 99854029 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 99854029 99854029 C T SNP PNISR ENST00000369239 human ensembl 70_37 -1 known missense c.880 p.E294K 1.000 NULL NULL - no_errors PNISR HGNC POLA2 23649 genome.wustl.edu 37 11 65064734 65064734 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 65064734 65064734 G A SNP POLA2 ENST00000265465 human ensembl 70_37 +1 known silent c.1791 p.R597 1.000 pirsf_DNA_pol_alpha_bsu pfam_Pol_alpha_B_N,pfam_DNA_pol_alpha/epsilon_bsu,pirsf_DNA_pol_alpha_bsu - no_errors POLA2 HGNC POLK 51426 genome.wustl.edu 37 5 74865228 74865228 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 74865228 74865228 G A SNP POLK ENST00000241436 human ensembl 70_37 +1 known missense c.319 p.D107N 1.000 pfam_DNA_repair_prot_UmuC-like,pfscan_DNA_repair_prot_UmuC-like_N pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLK HGNC POLK 51426 genome.wustl.edu 37 5 74865282 74865282 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 74865282 74865282 G A SNP POLK ENST00000241436 human ensembl 70_37 +1 known missense c.373 p.D125N 1.000 pfam_DNA_repair_prot_UmuC-like,pfscan_DNA_repair_prot_UmuC-like_N pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,pfam_PolY_HhH_motif,superfamily_DNA_pol_Y-fam_little_finger,smart_Znf_Rad18_put,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLK HGNC POLM 27434 genome.wustl.edu 37 7 44112891 44112891 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 44112891 44112891 C T SNP POLM ENST00000395831 human ensembl 70_37 -1 novel missense c.1297 p.E433K 1.000 NULL superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X - no_errors POLM HGNC POLM 27434 genome.wustl.edu 37 7 44113028 44113028 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 44113028 44113028 C T SNP POLM ENST00000395831 human ensembl 70_37 -1 novel missense c.1160 p.G387E 0.002 smart_DNA-dir_DNA_pol_X superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_BRCT_dom,smart_DNA-dir_DNA_pol_X,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X - no_errors POLM HGNC POLQ 10721 genome.wustl.edu 37 3 121206962 121206962 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 121206962 121206962 G A SNP POLQ ENST00000264233 human ensembl 70_37 -1 known nonsense c.4816 p.Q1606* 0.000 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 POLR1B 84172 genome.wustl.edu 37 2 113306970 113306970 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 113306970 113306970 C G SNP POLR1B ENST00000541869 human ensembl 70_37 +1 known missense c.733 p.Q245E 1.000 pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpa2-specific,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_5 - no_errors POLR1B HGNC POLR1D 51082 genome.wustl.edu 37 13 28196057 28196057 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 28196057 28196057 C T SNP POLR1D ENST00000465887 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors POLR1D HGNC POLR2B 5431 genome.wustl.edu 37 4 57876625 57876625 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 57876625 57876625 G A SNP POLR2B ENST00000314595 human ensembl 70_37 +1 known silent c.1503 p.L501 1.000 pfam_RNA_pol_Rpb2_3 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5 - no_errors POLR2B HGNC POLR3C 10623 genome.wustl.edu 37 1 145606277 145606277 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 145606277 145606277 C G SNP POLR3C ENST00000334163 human ensembl 70_37 -1 known missense c.676 p.E226Q 1.000 pfam_RNA_pol_III_Rpc82_C pfam_RNA_pol_III_Rpc82_C,pfam_RNA_pol_III_RPC82-rel_HTH - no_errors POLR3C HGNC POT1 25913 genome.wustl.edu 37 7 124493039 124493039 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 124493039 124493039 C T SNP POT1 ENST00000357628 human ensembl 70_37 -1 known missense c.856 p.D286N 0.985 superfamily_NA-bd_OB-fold-like pfam_Telomer_end-bd,superfamily_NA-bd_OB-fold-like,smart_Telomer_end-bd - no_errors POT1 HGNC POTEG 404785 genome.wustl.edu 37 14 19553485 19553485 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 19553485 19553485 G C SNP POTEG ENST00000409832 human ensembl 70_37 +1 known missense c.69 p.K23N 0.009 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 POTEG HGNC PPP1R3F 89801 genome.wustl.edu 37 X 49142903 49142903 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 49142903 49142903 C G SNP PPP1R3F ENST00000055335 human ensembl 70_37 +1 known missense c.1751 p.S584C 0.004 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3F HGNC PPP1R9A 55607 genome.wustl.edu 37 7 94540329 94540329 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 94540329 94540329 G T SNP PPP1R9A ENST00000289495 human ensembl 70_37 +1 known nonsense c.904 p.E302* 0.973 NULL pfam_SAM_2,pfam_SAM_type1,pfam_PDZ,superfamily_PDZ,superfamily_SAM/pointed,superfamily_Smac_DIABLO-like,smart_PDZ,smart_SAM,pfscan_PDZ,pfscan_SAM - no_errors PPP1R9A HGNC PPP2R2C 5522 genome.wustl.edu 37 4 6331054 6331054 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 6331054 6331054 G C SNP PPP2R2C ENST00000335585 human ensembl 70_37 -1 known silent c.987 p.L329 0.997 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 PPP2R2C HGNC PPP4R4 57718 genome.wustl.edu 37 14 94696987 94696987 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 94696987 94696987 C G SNP PPP4R4 ENST00000304338 human ensembl 70_37 +1 known missense c.358 p.L120V 0.947 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R4 HGNC PPRC1 23082 genome.wustl.edu 37 10 103901643 103901643 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 103901643 103901643 G C SNP PPRC1 ENST00000278070 human ensembl 70_37 +1 known missense c.3378 p.Q1126H 0.880 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC PPT2 9374 genome.wustl.edu 37 6 32122483 32122483 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 32122483 32122483 C T SNP PPT2 ENST00000361568 human ensembl 70_37 +1 known missense c.130 p.P44S 1.000 pfam_Palm_thioest pfam_Palm_thioest,prints_Palm_thioest - no_errors PPT2 HGNC PQBP1 10084 genome.wustl.edu 37 X 48755725 48755725 + RNA SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 48755725 48755725 G T SNP PQBP1 ENST00000473764 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PQBP1 HGNC PRAMEF11 440560 genome.wustl.edu 37 1 12884934 12884934 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 12884934 12884934 G C SNP PRAMEF11 ENST00000535591 human ensembl 70_37 -1 known missense c.1177 p.Q393E 0.000 NULL NULL - no_errors PRAMEF11 HGNC PRAMEF11 440560 genome.wustl.edu 37 1 12885022 12885022 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 12885022 12885022 G C SNP PRAMEF11 ENST00000535591 human ensembl 70_37 -1 known missense c.1089 p.I363M 0.000 NULL NULL - no_errors PRAMEF11 HGNC PRAMEF11 440560 genome.wustl.edu 37 1 12885048 12885048 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 12885048 12885048 G C SNP PRAMEF11 ENST00000535591 human ensembl 70_37 -1 known missense c.1063 p.L355V 0.002 NULL NULL - no_errors PRAMEF11 HGNC PRAMEF13 729528 genome.wustl.edu 37 1 13448422 13448422 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 13448422 13448422 G C SNP PRAMEF13 ENST00000376132 human ensembl 70_37 -1 known silent c.1053 p.L351 0.002 NULL NULL - no_errors PRAMEF13 HGNC PRAMEF2 65122 genome.wustl.edu 37 1 12921378 12921378 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 12921378 12921378 C T SNP PRAMEF2 ENST00000240189 human ensembl 70_37 +1 known missense c.1169 p.S390F 0.003 NULL NULL - no_errors PRAMEF2 HGNC PRELID2 153768 genome.wustl.edu 37 5 145198965 145198965 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 145198965 145198965 G C SNP PRELID2 ENST00000334744 human ensembl 70_37 -1 known missense c.220 p.L74V 0.973 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 - no_errors PRELID2 HGNC PRKCH 5583 genome.wustl.edu 37 14 62017244 62017244 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 62017244 62017244 C A SNP PRKCH ENST00000556245 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors PRKCH HGNC PRKDC 5591 genome.wustl.edu 37 8 48794620 48794620 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 48794620 48794620 G A SNP PRKDC ENST00000314191 human ensembl 70_37 -1 known silent c.4812 p.F1604 0.997 superfamily_ARM-type_fold pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC PRLH 51052 genome.wustl.edu 37 2 238475280 238475280 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 238475280 238475280 G A SNP PRLH ENST00000165524 human ensembl 70_37 +1 known missense c.64 p.A22T 0.001 NULL NULL - no_errors PRLH HGNC PRMT5 10419 genome.wustl.edu 37 14 23392312 23392312 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 23392312 23392312 G A SNP PRMT5 ENST00000324366 human ensembl 70_37 -1 known missense c.1433 p.S478F 1.000 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 pfam_Arg_MeTrfase,pirsf_Arg_MeTrfase_PRMT5 - no_errors PRMT5 HGNC PRODH2 58510 genome.wustl.edu 37 19 36303700 36303700 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 36303700 36303700 C T SNP PRODH2 ENST00000301175 human ensembl 70_37 -1 known missense c.236 p.R79Q 0.000 NULL pfam_Proline_DH - no_errors PRODH2 HGNC PROM1 8842 genome.wustl.edu 37 4 15995622 15995622 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 15995622 15995622 G C SNP PROM1 ENST00000447510 human ensembl 70_37 -1 known silent c.1755 p.L585 0.974 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC PROM1 8842 genome.wustl.edu 37 4 16025931 16025931 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 16025931 16025931 G C SNP PROM1 ENST00000447510 human ensembl 70_37 -1 known missense c.681 p.F227L 0.000 pfam_Prominin pfam_Prominin - no_errors PROM1 HGNC PROM2 150696 genome.wustl.edu 37 2 95940418 95940418 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 95940418 95940418 G C SNP PROM2 ENST00000317620 human ensembl 70_37 +1 known missense c.85 p.D29H 0.416 pfam_Prominin pfam_Prominin - no_errors PROM2 HGNC PRR14L 253143 genome.wustl.edu 37 22 32111360 32111360 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 32111360 32111360 G C SNP PRR14L ENST00000397493 human ensembl 70_37 -1 known missense c.2465 p.T822R 0.000 NULL NULL - no_errors PRR14L HGNC PRR14L 253143 genome.wustl.edu 37 22 32111816 32111816 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 32111816 32111816 G C SNP PRR14L ENST00000397493 human ensembl 70_37 -1 known missense c.2009 p.S670C 0.006 NULL NULL - no_errors PRR14L HGNC PRR14L 253143 genome.wustl.edu 37 22 32111844 32111844 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 32111844 32111844 G C SNP PRR14L ENST00000397493 human ensembl 70_37 -1 known missense c.1981 p.Q661E 0.320 NULL NULL - no_errors PRR14L HGNC PRRC2A 7916 genome.wustl.edu 37 6 31600440 31600440 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 31600440 31600440 C T SNP PRRC2A ENST00000376007 human ensembl 70_37 +1 known silent c.3990 p.F1330 1.000 NULL pfam_BAT2_N - no_errors PRRC2A HGNC PRRT2 112476 genome.wustl.edu 37 16 29824354 29824354 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 29824354 29824354 C G SNP PRRT2 ENST00000567551 human ensembl 70_37 +1 known rna NULL NULL 0.998 - - - no_errors PRRT2 HGNC PRSS12 8492 genome.wustl.edu 37 4 119204248 119204248 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 119204248 119204248 C T SNP PRSS12 ENST00000296498 human ensembl 70_37 -1 known silent c.2058 p.R686 0.989 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Srcr_rcpt,pfam_Peptidase_S1_S6,pfam_Kringle,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Kringle,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Srcr_rcpt,prints_Peptidase_S1A - no_errors PRSS12 HGNC PRTFDC1 56952 genome.wustl.edu 37 10 25147323 25147323 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 25147323 25147323 C G SNP PRTFDC1 ENST00000320152 human ensembl 70_37 -1 known missense c.421 p.E141Q 1.000 pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans pfam_PRibTrfase_dom,tigrfam_Hxn_phspho_trans - no_errors PRTFDC1 HGNC PSG1 5669 genome.wustl.edu 37 19 43373185 43373185 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 43373185 43373185 C T SNP PSG1 ENST00000312439 human ensembl 70_37 -1 known silent c.711 p.P237 0.431 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG1 HGNC PSG8 440533 genome.wustl.edu 37 19 43257302 43257302 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 43257302 43257302 C T SNP PSG8 ENST00000600709 human ensembl 70_37 -1 known rna NULL NULL 0.048 - - - no_errors PSG8 HGNC PSME4 23198 genome.wustl.edu 37 2 54127099 54127099 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 54127099 54127099 G C SNP PSME4 ENST00000404125 human ensembl 70_37 -1 known missense c.3341 p.S1114C 0.427 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC PSPC1 55269 genome.wustl.edu 37 13 20279828 20279828 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 20279828 20279828 G C SNP PSPC1 ENST00000338910 human ensembl 70_37 -1 known missense c.1360 p.P454A 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC PTBP2 58155 genome.wustl.edu 37 1 97187332 97187332 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 97187332 97187332 C T SNP PTBP2 ENST00000482253 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors PTBP2 HGNC PTBP3 9991 genome.wustl.edu 37 9 114986244 114986244 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 114986244 114986244 G C SNP PTBP3 ENST00000458258 human ensembl 70_37 -1 known missense c.1564 p.L522V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP3 HGNC PTCHD4 442213 genome.wustl.edu 37 6 47846660 47846660 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 47846660 47846660 G A SNP PTCHD4 ENST00000339488 human ensembl 70_37 -1 known silent c.1920 p.F640 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC PTGER3 5733 genome.wustl.edu 37 1 71512886 71512886 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 71512886 71512886 C T SNP PTGER3 ENST00000354608 human ensembl 70_37 -1 known silent c.375 p.P125 0.992 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC PTGES 9536 genome.wustl.edu 37 9 132510990 132510990 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 132510990 132510990 C G SNP PTGES ENST00000340607 human ensembl 70_37 -1 known silent c.153 p.L51 1.000 pfam_Membr-assoc_MAPEG pfam_Membr-assoc_MAPEG - no_errors PTGES HGNC PTGES3L-AARSD1 100885850 genome.wustl.edu 37 17 41113211 41113211 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 41113211 41113211 G A SNP PTGES3L-AARSD1 ENST00000409399 human ensembl 70_37 -1 known missense c.851 p.S284L 1.000 superfamily_Thr/Ala-tRNA-synth_IIc_edit,pfscan_Ala-tRNA-synth_IIc_core pfam_tRNA_SAD,pfam_CS_domain,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS-like_domain,pfscan_Ala-tRNA-synth_IIc_core - no_errors PTGES3L-AARSD1 HGNC PTPLAD1 51495 genome.wustl.edu 37 15 65868827 65868827 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 65868827 65868827 C G SNP PTPLAD1 ENST00000561763 human ensembl 70_37 +1 putative rna NULL NULL 0.998 - - - no_errors PTPLAD1 HGNC PTPN13 5783 genome.wustl.edu 37 4 87707030 87707030 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 87707030 87707030 G C SNP PTPN13 ENST00000436978 human ensembl 70_37 +1 known missense c.6301 p.E2101Q 0.676 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC PTPRC 5788 genome.wustl.edu 37 1 198701647 198701647 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 198701647 198701647 G C SNP PTPRC ENST00000442510 human ensembl 70_37 +1 known missense c.2104 p.D702H 1.000 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,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 PTPRC HGNC PTPRK 5796 genome.wustl.edu 37 6 128318103 128318103 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 128318103 128318103 C G SNP PTPRK ENST00000368227 human ensembl 70_37 -1 known missense c.2746 p.D916H 1.000 smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC PTPRS 5802 genome.wustl.edu 37 19 5219479 5219479 + Splice_Site SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 5219479 5219479 C T SNP PTPRS ENST00000372412 human ensembl 70_37 -1 known splice_site c.3769-1 e22-1 1.000 - - - no_errors PTPRS HGNC PURG 29942 genome.wustl.edu 37 8 30890282 30890282 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 30890282 30890282 C T SNP PURG ENST00000475541 human ensembl 70_37 -1 known missense c.17 p.R6Q 0.996 NULL pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURG HGNC QRICH2 84074 genome.wustl.edu 37 17 74276491 74276491 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 74276491 74276491 G A SNP QRICH2 ENST00000262765 human ensembl 70_37 -1 known silent c.4005 p.V1335 0.996 NULL NULL - no_errors QRICH2 HGNC QSER1 79832 genome.wustl.edu 37 11 32975658 32975658 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 32975658 32975658 G A SNP QSER1 ENST00000399302 human ensembl 70_37 +1 known missense c.4046 p.G1349E 1.000 NULL NULL - no_errors QSER1 HGNC RABGAP1L 9910 genome.wustl.edu 37 1 174957856 174957856 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 174957856 174957856 G C SNP RABGAP1L ENST00000347255 human ensembl 70_37 +1 known missense c.865 p.E289Q 0.986 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC RABGAP1L 9910 genome.wustl.edu 37 1 174959019 174959019 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 174959019 174959019 G C SNP RABGAP1L ENST00000347255 human ensembl 70_37 +1 known missense c.1018 p.E340Q 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC RAC2 5880 genome.wustl.edu 37 22 37622806 37622806 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 37622806 37622806 C G SNP RAC2 ENST00000249071 human ensembl 70_37 -1 known missense c.486 p.Q162H 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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 RAC2 HGNC RAD23A 5886 genome.wustl.edu 37 19 13059322 13059322 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 13059322 13059322 C G SNP RAD23A ENST00000586534 human ensembl 70_37 +1 known missense c.428 p.S143C 1.000 tigrfam_Rad23 pfam_XPC-bd,pfam_UBA/transl_elong_EF1B_N,pfam_Ubiquitin,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,prints_Rad23,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,tigrfam_Rad23 - no_errors RAD23A HGNC RAD51 5888 genome.wustl.edu 37 15 41011012 41011012 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 41011012 41011012 G A SNP RAD51 ENST00000382643 human ensembl 70_37 +1 known missense c.448 p.D150N 1.000 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,tigrfam_DNA_recomb/repair_Rad51 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DNA_recomb/repair_Rad51 - no_errors RAD51 HGNC RAD51C 5889 genome.wustl.edu 37 17 56772321 56772321 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 56772321 56772321 G A SNP RAD51C ENST00000337432 human ensembl 70_37 +1 known missense c.175 p.E59K 1.000 superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors RAD51C HGNC RAD54L2 23132 genome.wustl.edu 37 3 51667945 51667945 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 51667945 51667945 G C SNP RAD54L2 ENST00000409535 human ensembl 70_37 +1 known missense c.1036 p.E346Q 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd 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 RAG2 5897 genome.wustl.edu 37 11 36614675 36614675 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 36614675 36614675 C G SNP RAG2 ENST00000311485 human ensembl 70_37 -1 known missense c.1044 p.L348F 1.000 pfam_RAG2 pfam_RAG2,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_Znf_FYVE_PHD - no_errors RAG2 HGNC RAPGEF1 2889 genome.wustl.edu 37 9 134459713 134459713 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 134459713 134459713 C T SNP RAPGEF1 ENST00000372190 human ensembl 70_37 -1 known silent c.2895 p.Q965 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF1 HGNC RBBP6 5930 genome.wustl.edu 37 16 24578503 24578503 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 24578503 24578503 G A SNP RBBP6 ENST00000319715 human ensembl 70_37 +1 known silent c.1629 p.Q543 1.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC RBBP7 5931 genome.wustl.edu 37 X 16870688 16870688 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 16870688 16870688 C T SNP RBBP7 ENST00000380087 human ensembl 70_37 -1 known missense c.949 p.D317N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Histone-bd_RBBP4,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RBBP7 HGNC RBMXL1 494115 genome.wustl.edu 37 1 89448377 89448377 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 89448377 89448377 C T SNP RBMXL1 ENST00000321792 human ensembl 70_37 -1 known missense c.1133 p.G378E 1.000 NULL pfam_RRM_dom,pfam_RBM1CTR,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL1 HGNC RC3H2 54542 genome.wustl.edu 37 9 125639816 125639816 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 125639816 125639816 C G SNP RC3H2 ENST00000357244 human ensembl 70_37 -1 known missense c.1259 p.R420P 1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC RET 5979 genome.wustl.edu 37 10 43608311 43608311 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 43608311 43608311 G A SNP RET ENST00000355710 human ensembl 70_37 +1 known silent c.1659 p.R553 1.000 pirsf_Tyr_kinase_Ret_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Cadherin,superfamily_Kinase-like_dom,superfamily_Cadherin-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_Ret_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Cadherin,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RET HGNC RFX4 5992 genome.wustl.edu 37 12 107125951 107125951 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 107125951 107125951 C T SNP RFX4 ENST00000357881 human ensembl 70_37 +1 known silent c.1422 p.L474 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX4 HGNC RGL3 57139 genome.wustl.edu 37 19 11529983 11529983 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 11529983 11529983 C A SNP RGL3 ENST00000561570 human ensembl 70_37 -1 known rna NULL NULL 0.001 - - - no_errors RGL3 HGNC RGL4 266747 genome.wustl.edu 37 22 24034903 24034903 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 24034903 24034903 G C SNP RGL4 ENST00000290691 human ensembl 70_37 +1 known missense c.421 p.E141Q 0.000 NULL pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 - no_errors RGL4 HGNC RGS6 9628 genome.wustl.edu 37 14 73006802 73006802 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 73006802 73006802 G A SNP RGS6 ENST00000553525 human ensembl 70_37 +1 known silent c.1422 p.V474 1.000 NULL 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 RGS9 8787 genome.wustl.edu 37 17 63198172 63198172 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 63198172 63198172 C G SNP RGS9 ENST00000262406 human ensembl 70_37 +1 known silent c.1038 p.V346 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal 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 RGS9 HGNC RHCG 51458 genome.wustl.edu 37 15 90016088 90016088 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 90016088 90016088 C G SNP RHCG ENST00000268122 human ensembl 70_37 -1 known missense c.1318 p.E440Q 0.016 NULL pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHCG HGNC RHOA 387 genome.wustl.edu 37 3 49405880 49405880 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 49405880 49405880 G A SNP RHOA ENST00000418115 human ensembl 70_37 -1 known silent c.258 p.I86 0.859 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,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,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOA HGNC RICTOR 253260 genome.wustl.edu 37 5 38963098 38963098 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 38963098 38963098 C T SNP RICTOR ENST00000296782 human ensembl 70_37 -1 known missense c.1446 p.M482I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RICTOR HGNC RNASE9 390443 genome.wustl.edu 37 14 21026810 21026810 + Splice_Site SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 21026810 21026810 C T SNP RNASE9 ENST00000555230 human ensembl 70_37 -1 known splice_site c.1-1 e1-1 0.001 - - - no_errors RNASE9 HGNC RNF133 168433 genome.wustl.edu 37 7 122338231 122338231 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 122338231 122338231 C T SNP RNF133 ENST00000340112 human ensembl 70_37 -1 known missense c.742 p.E248K 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF133 HGNC RNF133 168433 genome.wustl.edu 37 7 122338412 122338412 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 122338412 122338412 C T SNP RNF133 ENST00000340112 human ensembl 70_37 -1 known missense c.561 p.M187I 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF133 HGNC RNF168 165918 genome.wustl.edu 37 3 196198875 196198875 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 196198875 196198875 C G SNP RNF168 ENST00000318037 human ensembl 70_37 -1 known missense c.1531 p.E511Q 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF168 HGNC RNF180 285671 genome.wustl.edu 37 5 63496634 63496634 + Splice_Site SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 63496634 63496634 G C SNP RNF180 ENST00000389100 human ensembl 70_37 +1 known splice_site c.1-1 e1-1 1.000 - - - no_errors RNF180 HGNC RNF213 57674 genome.wustl.edu 37 17 78318879 78318879 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 78318879 78318879 G C SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known missense c.6744 p.K2248N 1.000 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC RNF213 57674 genome.wustl.edu 37 17 78319163 78319163 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 78319163 78319163 G C SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known missense c.7028 p.R2343T 0.003 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC RNF213 57674 genome.wustl.edu 37 17 78320023 78320023 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 78320023 78320023 G A SNP RNF213 ENST00000582970 human ensembl 70_37 +1 known missense c.7888 p.E2630K 0.000 NULL smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC RNMT 8731 genome.wustl.edu 37 18 13731787 13731787 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 18 13731787 13731787 G C SNP RNMT ENST00000262173 human ensembl 70_37 +1 known missense c.271 p.E91Q 0.986 pirsf_mRNA_G-N7_MeTrfase pfam_mRNA_G-N7_MeTrfase_dom,pfam_Methyltransf_11,pirsf_mRNA_G-N7_MeTrfase - no_errors RNMT HGNC ROBO2 6092 genome.wustl.edu 37 3 77671452 77671452 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 77671452 77671452 C G SNP ROBO2 ENST00000461745 human ensembl 70_37 +1 known missense c.3629 p.S1210C 1.000 NULL 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 - no_errors ROBO2 HGNC ROR2 4920 genome.wustl.edu 37 9 94495547 94495547 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 94495547 94495547 C T SNP ROR2 ENST00000375708 human ensembl 70_37 -1 known missense c.794 p.R265H 1.000 pfam_Frizzled_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_rcpt_ROR,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROR2 HGNC ROS1 6098 genome.wustl.edu 37 6 117622176 117622176 + Nonsense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 117622176 117622176 C A SNP ROS1 ENST00000368508 human ensembl 70_37 -1 known nonsense c.6694 p.E2232* 0.002 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ROS1 6098 genome.wustl.edu 37 6 117622181 117622181 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 117622181 117622181 C G SNP ROS1 ENST00000368508 human ensembl 70_37 -1 known missense c.6689 p.R2230T 0.002 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC RPE65 6121 genome.wustl.edu 37 1 68896970 68896970 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 68896970 68896970 C G SNP RPE65 ENST00000262340 human ensembl 70_37 -1 known missense c.1333 p.D445H 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors RPE65 HGNC RPGR 6103 genome.wustl.edu 37 X 38146372 38146372 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 38146372 38146372 G C SNP RPGR ENST00000378505 human ensembl 70_37 -1 known nonsense c.1880 p.S627* 0.153 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 113327880 113327880 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 113327880 113327880 G A SNP RPH3A ENST00000389385 human ensembl 70_37 +1 known missense c.1615 p.E539K 1.000 NULL 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 RPL10A 4736 genome.wustl.edu 37 6 35436227 35436227 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 35436227 35436227 C T SNP RPL10A ENST00000464112 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors RPL10A HGNC RPL23AP7 118433 genome.wustl.edu 37 2 114369640 114369640 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 114369640 114369640 C G SNP RPL23AP7 ENST00000391616 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL23AP7 HGNC RPL4 6124 genome.wustl.edu 37 15 66795497 66795497 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 66795497 66795497 G C SNP RPL4 ENST00000307961 human ensembl 70_37 -1 known missense c.181 p.Q61E 1.000 pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom - no_errors RPL4 HGNC RPL7L1 285855 genome.wustl.edu 37 6 42852380 42852380 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 42852380 42852380 G T SNP RPL7L1 ENST00000304734 human ensembl 70_37 +1 known missense c.314 p.R105I 0.184 pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk pfam_Ribosomal_L30_ferredoxin-like,pfam_Ribosomal_L30_N,superfamily_Ribosomal_L30_ferredoxin-like,tigrfam_Ribosomal_L7_euk - no_errors RPL7L1 HGNC RPRD2 23248 genome.wustl.edu 37 1 150390097 150390097 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 150390097 150390097 C G SNP RPRD2 ENST00000369068 human ensembl 70_37 +1 known silent c.231 p.L77 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_RNA_polymerase_II_lsu_CTD pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD2 HGNC RPRD2 23248 genome.wustl.edu 37 1 150444968 150444968 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 150444968 150444968 C T SNP RPRD2 ENST00000369068 human ensembl 70_37 +1 known missense c.3544 p.R1182C 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD2 HGNC RPRD2 23248 genome.wustl.edu 37 1 150445007 150445007 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 150445007 150445007 C T SNP RPRD2 ENST00000369068 human ensembl 70_37 +1 known missense c.3583 p.P1195S 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,superfamily_Ricin_B_lectin,smart_RNA_polymerase_II_lsu_CTD - no_errors RPRD2 HGNC RPS6KL1 83694 genome.wustl.edu 37 14 75376458 75376458 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 75376458 75376458 C T SNP RPS6KL1 ENST00000358328 human ensembl 70_37 -1 known missense c.1058 p.G353D 0.179 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 RPS6KL1 83694 genome.wustl.edu 37 14 75376468 75376468 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 75376468 75376468 C T SNP RPS6KL1 ENST00000358328 human ensembl 70_37 -1 known missense c.1048 p.E350K 0.187 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 RPTOR 57521 genome.wustl.edu 37 17 78858868 78858868 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 78858868 78858868 G A SNP RPTOR ENST00000306801 human ensembl 70_37 +1 known missense c.1903 p.D635N 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC RPUSD2 27079 genome.wustl.edu 37 15 40864067 40864067 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 40864067 40864067 G C SNP RPUSD2 ENST00000315616 human ensembl 70_37 +1 known missense c.871 p.E291Q 0.905 pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D - no_errors RPUSD2 HGNC RPUSD3 285367 genome.wustl.edu 37 3 9879801 9879801 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 9879801 9879801 G C SNP RPUSD3 ENST00000383820 human ensembl 70_37 -1 known missense c.955 p.L319V 0.913 superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom - no_errors RPUSD3 HGNC RRP12 23223 genome.wustl.edu 37 10 99132923 99132923 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 99132923 99132923 C G SNP RRP12 ENST00000370992 human ensembl 70_37 -1 known missense c.2061 p.K687N 1.000 superfamily_ARM-type_fold pfam_Uncharacterised_NUC173,superfamily_ARM-type_fold - no_errors RRP12 HGNC RRP15 51018 genome.wustl.edu 37 1 218458788 218458788 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 218458788 218458788 G C SNP RRP15 ENST00000366932 human ensembl 70_37 +1 known missense c.130 p.D44H 0.001 NULL pfam_DUF1665 - no_errors RRP15 HGNC RSF1 51773 genome.wustl.edu 37 11 77378488 77378488 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 77378488 77378488 G C SNP RSF1 ENST00000308488 human ensembl 70_37 -1 known nonsense c.3800 p.S1267* 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC RTN4 57142 genome.wustl.edu 37 2 55254364 55254364 + Splice_Site SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 55254364 55254364 C T SNP RTN4 ENST00000354474 human ensembl 70_37 -1 known splice_site c.176-1 e2-1 0.288 - - - no_errors RTN4 HGNC RUFY2 55680 genome.wustl.edu 37 10 70139148 70139148 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 70139148 70139148 G C SNP RUFY2 ENST00000491118 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors RUFY2 HGNC RUNX1T1 862 genome.wustl.edu 37 8 92983038 92983038 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 92983038 92983038 C T SNP RUNX1T1 ENST00000436581 human ensembl 70_37 -1 known missense c.1420 p.E474K 1.000 prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC RUSC1 23623 genome.wustl.edu 37 1 155300518 155300518 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 155300518 155300518 C G SNP RUSC1 ENST00000462780 human ensembl 70_37 +1 known rna NULL NULL 0.001 - - - no_errors RUSC1 HGNC S100A16 140576 genome.wustl.edu 37 1 153580076 153580076 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 153580076 153580076 C G SNP S100A16 ENST00000368703 human ensembl 70_37 -1 known missense c.246 p.L82F 1.000 pfscan_EF_HAND_2 pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors S100A16 HGNC SAA1 6288 genome.wustl.edu 37 11 18291272 18291272 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 18291272 18291272 G C SNP SAA1 ENST00000356524 human ensembl 70_37 +1 known missense c.239 p.R80T 0.998 pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A - no_errors SAA1 HGNC SACS 26278 genome.wustl.edu 37 13 23911873 23911873 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 23911873 23911873 C T SNP SACS ENST00000382292 human ensembl 70_37 -1 known missense c.6142 p.E2048K 0.999 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC SAFB2 9667 genome.wustl.edu 37 19 5600247 5600247 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 5600247 5600247 C G SNP SAFB2 ENST00000252542 human ensembl 70_37 -1 known missense c.1584 p.K528N 0.889 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SAFB2 HGNC SALL1 6299 genome.wustl.edu 37 16 51172627 51172627 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 51172627 51172627 C G SNP SALL1 ENST00000251020 human ensembl 70_37 -1 known missense c.3506 p.R1169T 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC SAMD9 54809 genome.wustl.edu 37 7 92734909 92734909 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 92734909 92734909 C T SNP SAMD9 ENST00000379958 human ensembl 70_37 -1 known missense c.502 p.E168K 0.260 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC SAR1A 56681 genome.wustl.edu 37 10 71917551 71917551 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 71917551 71917551 G C SNP SAR1A ENST00000373238 human ensembl 70_37 -1 known missense c.317 p.S106C 1.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gprotein_alpha_su,pfam_MIRO-like,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors SAR1A HGNC SASS6 163786 genome.wustl.edu 37 1 100586960 100586960 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 100586960 100586960 G A SNP SASS6 ENST00000287482 human ensembl 70_37 -1 known missense c.457 p.L153F 1.000 NULL NULL - no_errors SASS6 HGNC SATB2 23314 genome.wustl.edu 37 2 200213501 200213501 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 200213501 200213501 G A SNP SATB2 ENST00000260926 human ensembl 70_37 -1 known nonsense c.1096 p.Q366* 1.000 pfam_Hmoeo_CUT,superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC SATB2 23314 genome.wustl.edu 37 2 200298085 200298085 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 200298085 200298085 G C SNP SATB2 ENST00000260926 human ensembl 70_37 -1 known missense c.322 p.H108D 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC SCAF4 57466 genome.wustl.edu 37 21 33065777 33065777 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 33065777 33065777 G C SNP SCAF4 ENST00000286835 human ensembl 70_37 -1 known missense c.1343 p.S448C 1.000 NULL 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 SCGB1D2 10647 genome.wustl.edu 37 11 62010802 62010802 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 62010802 62010802 G C SNP SCGB1D2 ENST00000244926 human ensembl 70_37 +1 known missense c.97 p.D33H 0.000 pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin pfam_Uteroglobin-like_superfam,superfamily_Secretoglobin - no_errors SCGB1D2 HGNC SCN10A 6336 genome.wustl.edu 37 3 38781028 38781028 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 38781028 38781028 G C SNP SCN10A ENST00000449082 human ensembl 70_37 -1 known missense c.2258 p.S753C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC SCN4A 6329 genome.wustl.edu 37 17 62022990 62022990 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 62022990 62022990 C T SNP SCN4A ENST00000435607 human ensembl 70_37 -1 known silent c.3450 p.V1150 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC SCN9A 6335 genome.wustl.edu 37 2 167055593 167055593 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 167055593 167055593 C T SNP SCN9A ENST00000303354 human ensembl 70_37 -1 known silent c.5559 p.E1853 0.013 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC SCNN1D 6339 genome.wustl.edu 37 1 1217634 1217634 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 1217634 1217634 C G SNP SCNN1D ENST00000379116 human ensembl 70_37 +1 known missense c.290 p.S97C 0.010 NULL pfam_Na+channel_ASC,superfamily_FH2_actin-bd,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1D HGNC SDR9C7 121214 genome.wustl.edu 37 12 57324159 57324159 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 57324159 57324159 C G SNP SDR9C7 ENST00000293502 human ensembl 70_37 -1 known silent c.411 p.L137 0.941 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR9C7 HGNC SDS 10993 genome.wustl.edu 37 12 113836322 113836322 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 113836322 113836322 G C SNP SDS ENST00000257549 human ensembl 70_37 -1 known missense c.423 p.I141M 1.000 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SDS HGNC SEC14L4 284904 genome.wustl.edu 37 22 30885864 30885864 + Nonstop_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 30885864 30885864 C G SNP SEC14L4 ENST00000381982 human ensembl 70_37 -1 putative nonstop c.1083 p.*361Y 0.262 NULL pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors SEC14L4 HGNC SEC16A 9919 genome.wustl.edu 37 9 139357926 139357926 + Missense_Mutation SNP T T C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 139357926 139357926 T C SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known missense c.4636 p.R1546G 1.000 NULL NULL - no_errors SEC16A HGNC SEC16A 9919 genome.wustl.edu 37 9 139368804 139368804 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 139368804 139368804 G A SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known silent c.3264 p.P1088 0.000 NULL NULL - no_errors SEC16A HGNC SEC16A 9919 genome.wustl.edu 37 9 139369984 139369984 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 139369984 139369984 G A SNP SEC16A ENST00000313050 human ensembl 70_37 -1 known missense c.2084 p.P695L 0.000 NULL NULL - no_errors SEC16A HGNC SEPT3 55964 genome.wustl.edu 37 22 42385672 42385672 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 42385672 42385672 C G SNP SEPT3 ENST00000396426 human ensembl 70_37 +1 known missense c.653 p.S218C 0.738 pfam_Cell_div_GTP-bd,pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pirsf_Septin,prints_Septin3 - no_errors SEPT3 HGNC SERHL 94009 genome.wustl.edu 37 22 42896607 42896607 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 42896607 42896607 G C SNP SERHL ENST00000359906 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SERHL HGNC SERP2 387923 genome.wustl.edu 37 13 44948221 44948221 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 44948221 44948221 G A SNP SERP2 ENST00000493476 human ensembl 70_37 +1 known silent c.60 p.Q20 1.000 pfam_ER_stress-assoc_Ramp4 pfam_ER_stress-assoc_Ramp4 - no_errors SERP2 HGNC SERPINA10 51156 genome.wustl.edu 37 14 94756366 94756366 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 94756366 94756366 C G SNP SERPINA10 ENST00000261994 human ensembl 70_37 -1 known missense c.565 p.E189Q 0.071 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA10 HGNC SERPINB9 5272 genome.wustl.edu 37 6 2900832 2900832 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 2900832 2900832 G C SNP SERPINB9 ENST00000380698 human ensembl 70_37 -1 known missense c.14 p.S5C 0.000 superfamily_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin - no_errors SERPINB9 HGNC SESN3 143686 genome.wustl.edu 37 11 94924717 94924717 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 94924717 94924717 C G SNP SESN3 ENST00000536441 human ensembl 70_37 -1 known missense c.193 p.E65Q 1.000 pfam_PA26 pfam_PA26 - no_errors SESN3 HGNC SETD5-AS1 440944 genome.wustl.edu 37 3 9438177 9438177 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 9438177 9438177 G C SNP SETD5-AS1 ENST00000383834 human ensembl 70_37 -1 known rna NULL NULL 0.002 - - - no_errors SETD5-AS1 HGNC SFSWAP 6433 genome.wustl.edu 37 12 132249087 132249087 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 132249087 132249087 G A SNP SFSWAP ENST00000261674 human ensembl 70_37 +1 known missense c.1807 p.D603N 1.000 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC SFSWAP 6433 genome.wustl.edu 37 12 132249105 132249105 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 132249105 132249105 G A SNP SFSWAP ENST00000261674 human ensembl 70_37 +1 known missense c.1825 p.E609K 0.995 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC SGIP1 84251 genome.wustl.edu 37 1 67139039 67139039 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 67139039 67139039 G C SNP SGIP1 ENST00000237247 human ensembl 70_37 +1 known missense c.648 p.Q216H 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC SGIP1 84251 genome.wustl.edu 37 1 67160939 67160939 + RNA DEL A A - TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 67160939 67160939 A - DEL SGIP1 ENST00000320161 human ensembl 70_37 +1 putative rna NULL NULL 0.009 - - - no_errors SGIP1 HGNC SGOL2 151246 genome.wustl.edu 37 2 201436969 201436969 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 201436969 201436969 G C SNP SGOL2 ENST00000357799 human ensembl 70_37 +1 known missense c.1900 p.D634H 0.000 NULL NULL - no_errors SGOL2 HGNC SGPL1 8879 genome.wustl.edu 37 10 72631650 72631650 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 72631650 72631650 C G SNP SGPL1 ENST00000373202 human ensembl 70_37 +1 known silent c.966 p.L322 1.000 pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SGPL1 HGNC SGTA 6449 genome.wustl.edu 37 19 2765192 2765192 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 2765192 2765192 G C SNP SGTA ENST00000221566 human ensembl 70_37 -1 known missense c.384 p.F128L 1.000 pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SGTA HGNC SH3BP1 23616 genome.wustl.edu 37 22 38046671 38046671 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 38046671 38046671 C A SNP SH3BP1 ENST00000357436 human ensembl 70_37 +1 known missense c.1537 p.P513T 0.059 NULL pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC SH3GL1P1 6458 genome.wustl.edu 37 17 30368536 30368536 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 30368536 30368536 C G SNP SH3GL1P1 ENST00000579186 human ensembl 70_37 +1 known rna NULL NULL 0.999 - - - no_errors SH3GL1P1 HGNC SH3PXD2B 285590 genome.wustl.edu 37 5 171765890 171765890 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 171765890 171765890 G C SNP SH3PXD2B ENST00000311601 human ensembl 70_37 -1 known missense c.2219 p.S740C 0.002 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC SH3TC2 79628 genome.wustl.edu 37 5 148422400 148422400 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 148422400 148422400 C A SNP SH3TC2 ENST00000515425 human ensembl 70_37 -1 known missense c.386 p.G129V 1.000 NULL pfam_SH3_domain,pfam_TPR-1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC SHD 56961 genome.wustl.edu 37 19 4284538 4284538 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 4284538 4284538 C G SNP SHD ENST00000600475 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SHD HGNC SHF 90525 genome.wustl.edu 37 15 45491047 45491047 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 45491047 45491047 G C SNP SHF ENST00000318390 human ensembl 70_37 -1 known missense c.397 p.Q133E 0.014 NULL pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 - no_errors SHF HGNC SHQ1 55164 genome.wustl.edu 37 3 72890222 72890222 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 72890222 72890222 G A SNP SHQ1 ENST00000325599 human ensembl 70_37 -1 known nonsense c.460 p.R154* 0.007 NULL pfam_SHQ1,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors SHQ1 HGNC SIM2 6493 genome.wustl.edu 37 21 38117369 38117369 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 38117369 38117369 C A SNP SIM2 ENST00000290399 human ensembl 70_37 +1 known missense c.1508 p.S503Y 0.725 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 SKIV2L 6499 genome.wustl.edu 37 6 31929372 31929372 + Nonsense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 31929372 31929372 C G SNP SKIV2L ENST00000461073 human ensembl 70_37 +1 known nonsense c.647 p.S216* 0.999 NULL NULL - no_errors SKIV2L HGNC SLAMF7 57823 genome.wustl.edu 37 1 160721404 160721404 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 160721404 160721404 C T SNP SLAMF7 ENST00000484221 human ensembl 70_37 +1 known rna NULL NULL 0.008 - - - no_errors SLAMF7 HGNC SLC12A5 57468 genome.wustl.edu 37 20 44671866 44671866 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 44671866 44671866 G A SNP SLC12A5 ENST00000454036 human ensembl 70_37 +1 known missense c.1210 p.D404N 0.986 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC SLC15A2 6565 genome.wustl.edu 37 3 121631876 121631876 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 121631876 121631876 C T SNP SLC15A2 ENST00000489711 human ensembl 70_37 +1 known missense c.437 p.S146L 0.975 pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport - no_errors SLC15A2 HGNC SLC15A4 121260 genome.wustl.edu 37 12 129283957 129283957 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 129283957 129283957 C G SNP SLC15A4 ENST00000266771 human ensembl 70_37 -1 known missense c.1420 p.E474Q 1.000 pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A4 HGNC SLC16A9 220963 genome.wustl.edu 37 10 61412606 61412606 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 61412606 61412606 G C SNP SLC16A9 ENST00000395347 human ensembl 70_37 -1 known missense c.1454 p.S485C 0.001 pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A9 HGNC SLC1A3 6507 genome.wustl.edu 37 5 36677065 36677065 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 36677065 36677065 G C SNP SLC1A3 ENST00000265113 human ensembl 70_37 +1 known silent c.639 p.V213 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A3 HGNC SLC22A15 55356 genome.wustl.edu 37 1 116574045 116574045 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 116574045 116574045 G C SNP SLC22A15 ENST00000369503 human ensembl 70_37 +1 known missense c.787 p.E263Q 0.987 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 - no_errors SLC22A15 HGNC SLC22A2 6582 genome.wustl.edu 37 6 160666565 160666565 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 160666565 160666565 C G SNP SLC22A2 ENST00000366953 human ensembl 70_37 -1 known missense c.970 p.E324Q 0.022 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 SLC22A2 HGNC SLC22A24 283238 genome.wustl.edu 37 11 62871656 62871656 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 62871656 62871656 C T SNP SLC22A24 ENST00000417740 human ensembl 70_37 -1 putative silent c.945 p.L315 0.147 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 - no_errors SLC22A24 HGNC SLC22A5 6584 genome.wustl.edu 37 5 131714085 131714085 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 131714085 131714085 G C SNP SLC22A5 ENST00000435065 human ensembl 70_37 +1 known missense c.481 p.E161Q 1.000 pfam_Sub_transporter,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 SLC22A5 HGNC SLC25A12 8604 genome.wustl.edu 37 2 172648021 172648021 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 172648021 172648021 G C SNP SLC25A12 ENST00000422440 human ensembl 70_37 -1 known missense c.1525 p.L509V 0.213 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A12 HGNC SLC25A16 8034 genome.wustl.edu 37 10 70243195 70243195 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 70243195 70243195 G C SNP SLC25A16 ENST00000265870 human ensembl 70_37 -1 known silent c.993 p.L331 0.989 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Graves_DC,prints_Mit_carrier - no_errors SLC25A16 HGNC SLC25A34 284723 genome.wustl.edu 37 1 16064484 16064484 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 16064484 16064484 C G SNP SLC25A34 ENST00000294454 human ensembl 70_37 +1 known missense c.439 p.H147D 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 SLC25A34 HGNC SLC25A39 51629 genome.wustl.edu 37 17 42397999 42397999 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 42397999 42397999 G C SNP SLC25A39 ENST00000377095 human ensembl 70_37 -1 known missense c.792 p.I264M 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 SLC25A39 HGNC SLC26A9 115019 genome.wustl.edu 37 1 205890709 205890709 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 205890709 205890709 G C SNP SLC26A9 ENST00000340781 human ensembl 70_37 -1 known missense c.2040 p.I680M 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 SLC35C1 55343 genome.wustl.edu 37 11 45832868 45832868 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 45832868 45832868 G C SNP SLC35C1 ENST00000314134 human ensembl 70_37 +1 known missense c.1077 p.K359N 0.659 NULL pfam_DUF250,pfam_UAA,pfam_DMT - no_errors SLC35C1 HGNC SLC38A9 153129 genome.wustl.edu 37 5 55008344 55008344 + RNA SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 55008344 55008344 G T SNP SLC38A9 ENST00000504880 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC38A9 HGNC SLC39A1 27173 genome.wustl.edu 37 1 153935074 153935074 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 153935074 153935074 G A SNP SLC39A1 ENST00000310483 human ensembl 70_37 -1 known missense c.118 p.L40F 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A1 HGNC SLC44A5 204962 genome.wustl.edu 37 1 75699774 75699774 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 75699774 75699774 C G SNP SLC44A5 ENST00000370855 human ensembl 70_37 -1 known silent c.750 p.T250 0.000 NULL pfam_Choline_transptr-like - no_errors SLC44A5 HGNC SLC4A3 6508 genome.wustl.edu 37 2 220502342 220502342 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 220502342 220502342 G T SNP SLC4A3 ENST00000273063 human ensembl 70_37 +1 known nonsense c.2656 p.E886* 0.025 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC SLC4A3 6508 genome.wustl.edu 37 2 220502408 220502408 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 220502408 220502408 G T SNP SLC4A3 ENST00000273063 human ensembl 70_37 +1 known nonsense c.2722 p.E908* 0.008 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC SLC4A4 8671 genome.wustl.edu 37 4 72319242 72319242 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 72319242 72319242 G C SNP SLC4A4 ENST00000425175 human ensembl 70_37 +1 known missense c.1353 p.K451N 1.000 pfam_HCO3_transpt_C,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 SLC4A4 HGNC SLC4A4 8671 genome.wustl.edu 37 4 72412243 72412243 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 72412243 72412243 G A SNP SLC4A4 ENST00000425175 human ensembl 70_37 +1 known silent c.2619 p.V873 0.988 pfam_HCO3_transpt_C,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 SLC4A4 HGNC SLC52A3 113278 genome.wustl.edu 37 20 741808 741808 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 741808 741808 G C SNP SLC52A3 ENST00000217254 human ensembl 70_37 -1 known silent c.1272 p.L424 0.000 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A3 HGNC SLC5A2 6524 genome.wustl.edu 37 16 31500333 31500333 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 31500333 31500333 C T SNP SLC5A2 ENST00000330498 human ensembl 70_37 +1 known silent c.1413 p.F471 0.238 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 SLC6A13 6540 genome.wustl.edu 37 12 369036 369036 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 369036 369036 G C SNP SLC6A13 ENST00000343164 human ensembl 70_37 -1 known silent c.183 p.L61 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 SLC6A5 9152 genome.wustl.edu 37 11 20657923 20657923 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 20657923 20657923 C T SNP SLC6A5 ENST00000525748 human ensembl 70_37 +1 known silent c.1695 p.I565 0.989 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A5 HGNC SLC6A7 6534 genome.wustl.edu 37 5 149576289 149576289 + Silent SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 149576289 149576289 C A SNP SLC6A7 ENST00000230671 human ensembl 70_37 +1 known silent c.228 p.L76 0.576 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC SLC6A7 6534 genome.wustl.edu 37 5 149581972 149581972 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 149581972 149581972 C G SNP SLC6A7 ENST00000230671 human ensembl 70_37 +1 known silent c.921 p.L307 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC SLC7A5 8140 genome.wustl.edu 37 16 87872349 87872349 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 87872349 87872349 G A SNP SLC7A5 ENST00000261622 human ensembl 70_37 -1 known silent c.1014 p.S338 0.014 pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter pfam_AA-permease_dom,pirsf_AA/rel_permease1,tigrfam_L_AA_transporter - no_errors SLC7A5 HGNC SLC9B2 133308 genome.wustl.edu 37 4 103987634 103987634 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 103987634 103987634 C G SNP SLC9B2 ENST00000362026 human ensembl 70_37 -1 known missense c.121 p.D41H 0.448 NULL pfam_Cation/H_exchanger - no_errors SLC9B2 HGNC SLIT1 6585 genome.wustl.edu 37 10 98794254 98794254 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 98794254 98794254 G A SNP SLIT1 ENST00000266058 human ensembl 70_37 -1 known silent c.2412 p.F804 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,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_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT1 HGNC SLITRK1 114798 genome.wustl.edu 37 13 84455448 84455448 + Silent SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 84455448 84455448 C A SNP SLITRK1 ENST00000377084 human ensembl 70_37 -1 known silent c.195 p.L65 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 142717613 142717613 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 142717613 142717613 C G SNP SLITRK4 ENST00000338017 human ensembl 70_37 -1 known missense c.1312 p.E438Q 0.993 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC SMAD4 4089 genome.wustl.edu 37 18 48591918 48591918 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 18 48591918 48591918 C T SNP SMAD4 ENST00000342988 human ensembl 70_37 +1 known missense c.1081 p.R361C 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC SMARCA2 6595 genome.wustl.edu 37 9 2123739 2123739 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 2123739 2123739 G C SNP SMARCA2 ENST00000349721 human ensembl 70_37 +1 known silent c.3783 p.R1261 0.800 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC SMARCA4 6597 genome.wustl.edu 37 19 11101918 11101918 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 11101918 11101918 C T SNP SMARCA4 ENST00000358026 human ensembl 70_37 +1 known silent c.1338 p.S446 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC SMARCC1 6599 genome.wustl.edu 37 3 47629597 47629597 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 47629597 47629597 G A SNP SMARCC1 ENST00000425518 human ensembl 70_37 -1 known rna NULL NULL 0.905 - - - no_errors SMARCC1 HGNC SMARCC2 6601 genome.wustl.edu 37 12 56572822 56572822 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 56572822 56572822 G C SNP SMARCC2 ENST00000267064 human ensembl 70_37 -1 known nonsense c.1100 p.S367* 0.999 superfamily_Chromodomain-like pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC SMARCE1 6605 genome.wustl.edu 37 17 38785201 38785201 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 38785201 38785201 C T SNP SMARCE1 ENST00000348513 human ensembl 70_37 -1 known missense c.1072 p.E358K 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SMARCE1 HGNC SMARCE1 6605 genome.wustl.edu 37 17 38787059 38787059 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 38787059 38787059 C T SNP SMARCE1 ENST00000348513 human ensembl 70_37 -1 known missense c.934 p.E312K 0.996 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SMARCE1 HGNC SMCR2 140768 genome.wustl.edu 37 17 17577423 17577423 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 17577423 17577423 C G SNP SMCR2 ENST00000456090 human ensembl 70_37 -1 known rna NULL NULL 0.006 - - - no_errors SMCR2 HGNC SMG1 23049 genome.wustl.edu 37 16 18820965 18820965 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 18820965 18820965 C T SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known missense c.10915 p.D3639N 1.000 pfam_FATC,pfscan_FATC pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC SMG1 23049 genome.wustl.edu 37 16 18848735 18848735 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 18848735 18848735 G A SNP SMG1 ENST00000389467 human ensembl 70_37 -1 known silent c.7444 p.L2482 1.000 superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC SMG7 9887 genome.wustl.edu 37 1 183520229 183520229 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 183520229 183520229 G A SNP SMG7 ENST00000507469 human ensembl 70_37 +1 known silent c.3216 p.E1072 1.000 NULL pfam_EST1 - no_errors SMG7 HGNC SMG8 55181 genome.wustl.edu 37 17 57288710 57288710 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 57288710 57288710 G A SNP SMG8 ENST00000300917 human ensembl 70_37 +1 known missense c.1298 p.R433K 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC SMNDC1 10285 genome.wustl.edu 37 10 112058485 112058485 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 112058485 112058485 C G SNP SMNDC1 ENST00000369592 human ensembl 70_37 -1 known missense c.184 p.D62H 1.000 NULL pfam_Survival_motor_neuron,smart_Tudor,pfscan_Tudor - no_errors SMNDC1 HGNC SMO 6608 genome.wustl.edu 37 7 128845562 128845562 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 128845562 128845562 G C SNP SMO ENST00000249373 human ensembl 70_37 +1 known missense c.859 p.D287H 1.000 pfam_Frizzled,pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC SMOX 54498 genome.wustl.edu 37 20 4163254 4163254 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 4163254 4163254 C T SNP SMOX ENST00000305958 human ensembl 70_37 +1 known silent c.1128 p.F376 1.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom - no_errors SMOX HGNC SNAPC4 6621 genome.wustl.edu 37 9 139286555 139286555 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 139286555 139286555 C G SNP SNAPC4 ENST00000298532 human ensembl 70_37 -1 known missense c.814 p.E272Q 1.000 superfamily_Homeodomain-like,smart_SANT/Myb pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC SNAPC4 6621 genome.wustl.edu 37 9 139287211 139287211 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 139287211 139287211 C T SNP SNAPC4 ENST00000298532 human ensembl 70_37 -1 known silent c.651 p.Q217 1.000 smart_SANT/Myb pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors SNAPC4 HGNC SNCAIP 9627 genome.wustl.edu 37 5 121759246 121759246 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 121759246 121759246 G A SNP SNCAIP ENST00000379533 human ensembl 70_37 +1 known missense c.955 p.E319K 0.997 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC SNED1 25992 genome.wustl.edu 37 2 241992704 241992704 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 241992704 241992704 C A SNP SNED1 ENST00000310397 human ensembl 70_37 +1 known missense c.2218 p.Q740K 0.837 superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_Fibronectin_type3,superfamily_Complement_control_module,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC SNORD3A 780851 genome.wustl.edu 37 17 19091487 19091487 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 19091487 19091487 G C SNP SNORD3A ENST00000365494 human ensembl 70_37 +1 known rna NULL NULL 0.949 - - - no_errors SNORD3A HGNC SNORD3B-2 780852 genome.wustl.edu 37 17 18967291 18967291 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 18967291 18967291 C G SNP SNORD3B-2 ENST00000364880 human ensembl 70_37 -1 known rna NULL NULL 0.056 - - - no_errors SNORD3B-2 HGNC SNW1 22938 genome.wustl.edu 37 14 78217764 78217764 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 78217764 78217764 C G SNP SNW1 ENST00000261531 human ensembl 70_37 -1 known missense c.228 p.M76I 1.000 NULL pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx - no_errors SNW1 HGNC SOCS7 30837 genome.wustl.edu 37 17 36521268 36521268 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 36521268 36521268 C T SNP SOCS7 ENST00000577233 human ensembl 70_37 +1 known missense c.1036 p.P346S 1.000 NULL pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS7 HGNC SOX15 6665 genome.wustl.edu 37 17 7492582 7492582 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 7492582 7492582 C G SNP SOX15 ENST00000250055 human ensembl 70_37 -1 known missense c.413 p.R138T 0.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors SOX15 HGNC SP100 6672 genome.wustl.edu 37 2 231311611 231311611 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 231311611 231311611 G C SNP SP100 ENST00000340126 human ensembl 70_37 +1 known missense c.517 p.E173Q 0.654 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 SP6 80320 genome.wustl.edu 37 17 45925575 45925575 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 45925575 45925575 G A SNP SP6 ENST00000342234 human ensembl 70_37 -1 known missense c.221 p.S74L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP6 HGNC SPATA32 124783 genome.wustl.edu 37 17 43333177 43333177 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 43333177 43333177 G A SNP SPATA32 ENST00000331780 human ensembl 70_37 -1 known silent c.372 p.F124 0.000 NULL NULL - no_errors SPATA32 HGNC SPDL1 54908 genome.wustl.edu 37 5 169020517 169020517 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 169020517 169020517 C G SNP SPDL1 ENST00000265295 human ensembl 70_37 +1 known missense c.496 p.L166V 1.000 NULL NULL - no_errors SPDL1 HGNC SPEF1 25876 genome.wustl.edu 37 20 3759456 3759456 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 3759456 3759456 G A SNP SPEF1 ENST00000463490 human ensembl 70_37 -1 known rna NULL NULL 0.999 - - - no_errors SPEF1 HGNC SPEF2 79925 genome.wustl.edu 37 5 35641588 35641588 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 35641588 35641588 C G SNP SPEF2 ENST00000356031 human ensembl 70_37 +1 known missense c.217 p.L73V 0.294 pfam_DUF1042,superfamily_CH-domain,pfscan_CH-domain pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC SPEG 10290 genome.wustl.edu 37 2 220329158 220329158 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 220329158 220329158 G A SNP SPEG ENST00000396695 human ensembl 70_37 +1 known silent c.333 p.L111 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SPEG HGNC SPIN2A 54466 genome.wustl.edu 37 X 57162266 57162266 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 57162266 57162266 C T SNP SPIN2A ENST00000374906 human ensembl 70_37 -1 known silent c.765 p.V255 1.000 pfam_Spin_Ssty pfam_Spin_Ssty - no_errors SPIN2A HGNC SPINT2 10653 genome.wustl.edu 37 19 38755600 38755600 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 38755600 38755600 C G SNP SPINT2 ENST00000301244 human ensembl 70_37 +1 known missense c.68 p.S23C 0.266 NULL pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors SPINT2 HGNC SPPL2A 84888 genome.wustl.edu 37 15 51028310 51028310 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 51028310 51028310 C T SNP SPPL2A ENST00000261854 human ensembl 70_37 -1 known missense c.920 p.R307Q 1.000 pfam_Peptidase_A22B_SPP,smart_Peptidase_A22 pfam_Peptidase_A22B_SPP,pfam_Protease-assoc_domain,smart_Peptidase_A22 - no_errors SPPL2A HGNC SRA1 10011 genome.wustl.edu 37 5 139937066 139937066 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 139937066 139937066 C T SNP SRA1 ENST00000336283 human ensembl 70_37 -1 known missense c.8 p.R3H 0.017 NULL pfam_SRA1-protein/COPII_Sec31 - no_errors SRA1 HGNC SRCIN1 80725 genome.wustl.edu 37 17 36699365 36699365 + RNA SNP A A T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 36699365 36699365 A T SNP SRCIN1 ENST00000398579 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors SRCIN1 HGNC SRCRB4D 136853 genome.wustl.edu 37 7 76019544 76019544 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 76019544 76019544 G A SNP SRCRB4D ENST00000275560 human ensembl 70_37 -1 known silent c.1560 p.L520 0.992 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors SRCRB4D HGNC SRGAP3-AS1 100874103 genome.wustl.edu 37 3 9057523 9057523 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 9057523 9057523 G A SNP SRGAP3-AS1 ENST00000414633 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors SRGAP3-AS1 HGNC SRGN 5552 genome.wustl.edu 37 10 70863643 70863643 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 70863643 70863643 G A SNP SRGN ENST00000242465 human ensembl 70_37 +1 known missense c.244 p.D82N 0.084 pfam_Serglycin pfam_Serglycin - no_errors SRGN HGNC SRSF2 6427 genome.wustl.edu 37 17 74733072 74733072 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 74733072 74733072 G A SNP SRSF2 ENST00000359995 human ensembl 70_37 -1 known silent c.171 p.F57 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF2 HGNC SSC5D 284297 genome.wustl.edu 37 19 56028751 56028751 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 56028751 56028751 G C SNP SSC5D ENST00000389623 human ensembl 70_37 +1 known missense c.3108 p.L1036F 0.000 NULL pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors SSC5D HGNC SSFA2 6744 genome.wustl.edu 37 2 182786865 182786865 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 182786865 182786865 C T SNP SSFA2 ENST00000431877 human ensembl 70_37 +1 known missense c.3401 p.S1134L 0.085 NULL NULL - no_errors SSFA2 HGNC SSPO 23145 genome.wustl.edu 37 7 149523307 149523307 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 149523307 149523307 C T SNP SSPO ENST00000378016 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors SSPO HGNC ST3GAL1 6482 genome.wustl.edu 37 8 134472011 134472011 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 134472011 134472011 C T SNP ST3GAL1 ENST00000319914 human ensembl 70_37 -1 known missense c.1019 p.R340K 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL1 HGNC ST6GALNAC3 256435 genome.wustl.edu 37 1 76877784 76877784 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 76877784 76877784 C T SNP ST6GALNAC3 ENST00000328299 human ensembl 70_37 +1 known missense c.305 p.S102F 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC3 HGNC STARD9 57519 genome.wustl.edu 37 15 42985060 42985060 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 42985060 42985060 G C SNP STARD9 ENST00000290607 human ensembl 70_37 +1 known missense c.11284 p.E3762Q 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 STAT4 6775 genome.wustl.edu 37 2 191929649 191929649 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 191929649 191929649 C T SNP STAT4 ENST00000358470 human ensembl 70_37 -1 known silent c.666 p.E222 0.961 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT4 HGNC STIL 6491 genome.wustl.edu 37 1 47753326 47753326 + Nonsense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 47753326 47753326 C A SNP STIL ENST00000371877 human ensembl 70_37 -1 known nonsense c.1030 p.E344* 1.000 NULL NULL - no_errors STIL HGNC STK31 56164 genome.wustl.edu 37 7 23826166 23826166 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 23826166 23826166 G A SNP STK31 ENST00000355870 human ensembl 70_37 +1 known missense c.2314 p.E772K 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Tudor,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tudor,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Tudor,pfscan_Prot_kinase_cat_dom - no_errors STK31 HGNC STK35 140901 genome.wustl.edu 37 20 2097345 2097345 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 2097345 2097345 G A SNP STK35 ENST00000381482 human ensembl 70_37 +1 known missense c.926 p.C309Y 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 STK35 HGNC STK36 27148 genome.wustl.edu 37 2 219553557 219553557 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 219553557 219553557 G A SNP STK36 ENST00000295709 human ensembl 70_37 +1 known silent c.1518 p.L506 0.006 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,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 STK36 HGNC STMN1 3925 genome.wustl.edu 37 1 26227120 26227120 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 26227120 26227120 G A SNP STMN1 ENST00000465604 human ensembl 70_37 -1 known rna NULL NULL 1.000 - - - no_errors STMN1 HGNC STRADA 92335 genome.wustl.edu 37 17 61790876 61790876 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 61790876 61790876 C G SNP STRADA ENST00000336174 human ensembl 70_37 -1 known missense c.238 p.E80Q 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors STRADA HGNC STYXL1 51657 genome.wustl.edu 37 7 75634707 75634707 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 75634707 75634707 G C SNP STYXL1 ENST00000360591 human ensembl 70_37 -1 known nonsense c.323 p.S108* 0.968 NULL superfamily_Rhodanese-like_dom - no_errors STYXL1 HGNC SULT1A1 6817 genome.wustl.edu 37 16 28619669 28619669 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 28619669 28619669 C T SNP SULT1A1 ENST00000314752 human ensembl 70_37 -1 known silent c.315 p.L105 0.945 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1A1 HGNC SULT1A1 6817 genome.wustl.edu 37 16 28620067 28620067 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 28620067 28620067 C T SNP SULT1A1 ENST00000314752 human ensembl 70_37 -1 known missense c.110 p.R37Q 0.292 NULL pfam_Sulfotransferase_dom - no_errors SULT1A1 HGNC SULT1B1 27284 genome.wustl.edu 37 4 70599967 70599967 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 70599967 70599967 G A SNP SULT1B1 ENST00000310613 human ensembl 70_37 -1 known missense c.391 p.R131C 1.000 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1B1 HGNC SULT4A1 25830 genome.wustl.edu 37 22 44225002 44225002 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 44225002 44225002 G A SNP SULT4A1 ENST00000330884 human ensembl 70_37 -1 known missense c.680 p.T227M 0.037 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT4A1 HGNC SUMO1 7341 genome.wustl.edu 37 2 203096434 203096434 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 203096434 203096434 G C SNP SUMO1 ENST00000409627 human ensembl 70_37 -1 known missense c.34 p.L12V 1.000 NULL NULL - no_errors SUMO1 HGNC SUMO3 6612 genome.wustl.edu 37 21 46228470 46228470 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 46228470 46228470 G C SNP SUMO3 ENST00000397893 human ensembl 70_37 -1 putative nonsense c.236 p.S79* 0.001 smart_Ubiquitin pfam_SUMO,pfam_Ubiquitin,smart_Ubiquitin - no_errors SUMO3 HGNC SUPT6H 6830 genome.wustl.edu 37 17 27024935 27024935 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 27024935 27024935 G T SNP SUPT6H ENST00000314616 human ensembl 70_37 +1 known missense c.4335 p.E1445D 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC SVIL 6840 genome.wustl.edu 37 10 29821682 29821682 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 29821682 29821682 C G SNP SVIL ENST00000355867 human ensembl 70_37 -1 known silent c.1614 p.S538 0.000 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,prints_Gelsolin,pfscan_Villin_headpiece - no_errors SVIL HGNC SWT1 54823 genome.wustl.edu 37 1 185175784 185175784 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 185175784 185175784 C T SNP SWT1 ENST00000367500 human ensembl 70_37 +1 known silent c.1861 p.L621 0.998 NULL smart_PINc_nuc-bd - no_errors SWT1 HGNC SYNE1 23345 genome.wustl.edu 37 6 152599269 152599269 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 152599269 152599269 C T SNP SYNE1 ENST00000265368 human ensembl 70_37 -1 known silent c.18528 p.L6176 0.815 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC SYP 6855 genome.wustl.edu 37 X 49054176 49054176 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 49054176 49054176 G A SNP SYP ENST00000263233 human ensembl 70_37 -1 known silent c.225 p.F75 1.000 pfam_MARVEL-like_dom,prints_Synaptophysin/porin pfam_MARVEL-like_dom,prints_Synaptophysin/porin - no_errors SYP HGNC SYT10 341359 genome.wustl.edu 37 12 33559988 33559988 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 33559988 33559988 C T SNP SYT10 ENST00000228567 human ensembl 70_37 -1 known silent c.813 p.V271 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC SYT14 255928 genome.wustl.edu 37 1 210126072 210126072 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 210126072 210126072 G A SNP SYT14 ENST00000422431 human ensembl 70_37 +1 known missense c.46 p.E16K 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors SYT14 HGNC SYT17 51760 genome.wustl.edu 37 16 19236108 19236108 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 19236108 19236108 C T SNP SYT17 ENST00000355377 human ensembl 70_37 +1 known silent c.1176 p.F392 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,prints_Synaptotagmin - no_errors SYT17 HGNC SYT6 148281 genome.wustl.edu 37 1 114680230 114680230 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 114680230 114680230 C G SNP SYT6 ENST00000369545 human ensembl 70_37 -1 known missense c.958 p.D320H 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_errors SYT6 HGNC TAF9 6880 genome.wustl.edu 37 5 68647889 68647889 + Nonstop_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 68647889 68647889 C G SNP TAF9 ENST00000380822 human ensembl 70_37 -1 known nonstop c.518 p.*173S 0.987 NULL pfam_ATPase_AAA_core - no_errors TAF9 HGNC TAS1R3 83756 genome.wustl.edu 37 1 1269217 1269217 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 1269217 1269217 C G SNP TAS1R3 ENST00000339381 human ensembl 70_37 +1 known silent c.1932 p.L644 0.871 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC TATDN2 9797 genome.wustl.edu 37 3 10311955 10311955 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 10311955 10311955 C T SNP TATDN2 ENST00000287652 human ensembl 70_37 +1 known silent c.1089 p.F363 0.011 NULL pfam_TatD_family - no_errors TATDN2 HGNC TBC1D8B 54885 genome.wustl.edu 37 X 106093419 106093419 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 106093419 106093419 G A SNP TBC1D8B ENST00000357242 human ensembl 70_37 +1 known missense c.2002 p.D668N 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,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 TBX3 6926 genome.wustl.edu 37 12 115114156 115114156 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 115114156 115114156 G A SNP TBX3 ENST00000257566 human ensembl 70_37 -1 known missense c.1061 p.S354F 0.991 pfam_TBX pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC TCAIM 285343 genome.wustl.edu 37 3 44437913 44437913 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 44437913 44437913 C T SNP TCAIM ENST00000342649 human ensembl 70_37 +1 known silent c.717 p.I239 0.012 NULL NULL - no_errors TCAIM HGNC TCEA2 6919 genome.wustl.edu 37 20 62699457 62699457 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 62699457 62699457 C G SNP TCEA2 ENST00000343484 human ensembl 70_37 +1 known missense c.299 p.S100W 0.204 pirsf_TF_IIS-rel,tigrfam_TFSII pfam_TFIIS_cen_dom,pfam_TFIIS_N,pfam_Znf_TFIIS,superfamily_TFIIS_cen_dom,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_TFS2M,smart_Znf_TFIIS,pirsf_TF_IIS-rel,pfscan_Znf_TFIIS,tigrfam_TFSII - no_errors TCEA2 HGNC TCERG1L 256536 genome.wustl.edu 37 10 132961448 132961448 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 132961448 132961448 C A SNP TCERG1L ENST00000368642 human ensembl 70_37 -1 known missense c.971 p.G324V 0.304 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 TCERG1L HGNC TCHH 7062 genome.wustl.edu 37 1 152084508 152084508 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 152084508 152084508 C G SNP TCHH ENST00000368804 human ensembl 70_37 -1 known silent c.1185 p.L395 0.011 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors TCHH HGNC TDH 157739 genome.wustl.edu 37 8 11218933 11218933 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 11218933 11218933 C A SNP TDH ENST00000525246 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TDH HGNC TDP1 55775 genome.wustl.edu 37 14 90429894 90429894 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 90429894 90429894 G A SNP TDP1 ENST00000335725 human ensembl 70_37 +1 known missense c.436 p.E146K 0.025 NULL pfam_Tyr-DNA_phospho - no_errors TDP1 HGNC TDRD1 56165 genome.wustl.edu 37 10 115973275 115973275 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 115973275 115973275 C A SNP TDRD1 ENST00000251864 human ensembl 70_37 +1 known missense c.2002 p.L668I 0.000 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC TECPR1 25851 genome.wustl.edu 37 7 97860411 97860411 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 97860411 97860411 G C SNP TECPR1 ENST00000379795 human ensembl 70_37 -1 known missense c.2147 p.S716C 1.000 smart_Beta-propeller_rpt_TECPR pfam_Beta-propeller_rpt_TECPR,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC TECPR1 25851 genome.wustl.edu 37 7 97862862 97862862 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 97862862 97862862 G C SNP TECPR1 ENST00000379795 human ensembl 70_37 -1 known missense c.1543 p.L515V 0.087 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC TEP1 7011 genome.wustl.edu 37 14 20854746 20854746 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 20854746 20854746 G A SNP TEP1 ENST00000262715 human ensembl 70_37 -1 known silent c.2721 p.F907 1.000 NULL pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC TEX10 54881 genome.wustl.edu 37 9 103109610 103109610 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 103109610 103109610 G C SNP TEX10 ENST00000374902 human ensembl 70_37 -1 known missense c.259 p.Q87E 0.898 superfamily_ARM-type_fold pfam_IPI1-like_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC TFE3 7030 genome.wustl.edu 37 X 48891275 48891275 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 48891275 48891275 C G SNP TFE3 ENST00000315869 human ensembl 70_37 -1 known missense c.1026 p.L342F 1.000 NULL pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom - no_errors TFE3 HGNC NELFCD 51497 genome.wustl.edu 37 20 57564672 57564672 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 57564672 57564672 G C SNP TH1L ENST00000344018 human ensembl 70_37 +1 known missense c.661 p.E221Q 1.000 pfam_TH1 pfam_TH1 - no_errors TH1L HGNC THADA 63892 genome.wustl.edu 37 2 43768398 43768398 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 43768398 43768398 C T SNP THADA ENST00000405006 human ensembl 70_37 -1 known missense c.3164 p.R1055K 1.000 pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC THNSL2 55258 genome.wustl.edu 37 2 88484895 88484895 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 88484895 88484895 C G SNP THNSL2 ENST00000324166 human ensembl 70_37 +1 known missense c.1126 p.Q376E 0.025 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like - no_errors THNSL2 HGNC THSD1 55901 genome.wustl.edu 37 13 52971931 52971931 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 52971931 52971931 G T SNP THSD1 ENST00000258613 human ensembl 70_37 -1 known missense c.457 p.Q153K 0.956 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD1 HGNC THSD7A 221981 genome.wustl.edu 37 7 11446027 11446027 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 11446027 11446027 G A SNP THSD7A ENST00000423059 human ensembl 70_37 -1 known silent c.4137 p.F1379 0.929 pfam_Thrombospondin_1_rpt,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 TIE1 7075 genome.wustl.edu 37 1 43785209 43785209 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 43785209 43785209 G C SNP TIE1 ENST00000473014 human ensembl 70_37 +1 known rna NULL NULL 0.000 - - - no_errors TIE1 HGNC TJP2 9414 genome.wustl.edu 37 9 71831295 71831295 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 71831295 71831295 G C SNP TJP2 ENST00000539225 human ensembl 70_37 +1 known missense c.248 p.R83T 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ 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 TJP2 9414 genome.wustl.edu 37 9 71855018 71855018 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 71855018 71855018 G C SNP TJP2 ENST00000539225 human ensembl 70_37 +1 known missense c.2614 p.D872H 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin 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 TLE4 7091 genome.wustl.edu 37 9 82323087 82323087 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 82323087 82323087 G A SNP TLE4 ENST00000376520 human ensembl 70_37 +1 known missense c.1087 p.D363N 1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC TLE6 79816 genome.wustl.edu 37 19 2986844 2986844 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 2986844 2986844 G C SNP TLE6 ENST00000246112 human ensembl 70_37 +1 known missense c.240 p.Q80H 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE6 HGNC TLL2 7093 genome.wustl.edu 37 10 98205860 98205860 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 98205860 98205860 C T SNP TLL2 ENST00000357947 human ensembl 70_37 -1 known missense c.352 p.E118K 0.004 pirsf_BMP_1/tolloid-like 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 TLL2 HGNC TMC6 11322 genome.wustl.edu 37 17 76113951 76113951 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 76113951 76113951 G A SNP TMC6 ENST00000322914 human ensembl 70_37 -1 known silent c.1953 p.V651 1.000 NULL pfam_TMC - no_errors TMC6 HGNC TMEM120A 83862 genome.wustl.edu 37 7 75621563 75621563 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 75621563 75621563 G C SNP TMEM120A ENST00000338761 human ensembl 70_37 -1 known rna NULL NULL 0.111 - - - no_errors TMEM120A HGNC TMEM132C 92293 genome.wustl.edu 37 12 129178524 129178524 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 129178524 129178524 G A SNP TMEM132C ENST00000435159 human ensembl 70_37 +1 known missense c.1600 p.D534N 0.998 NULL NULL - no_errors TMEM132C HGNC TMEM141 85014 genome.wustl.edu 37 9 139686128 139686128 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 139686128 139686128 G C SNP TMEM141 ENST00000465017 human ensembl 70_37 +1 known rna NULL NULL 0.005 - - - no_errors TMEM141 HGNC TMEM141 85014 genome.wustl.edu 37 9 139686777 139686777 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 139686777 139686777 G T SNP TMEM141 ENST00000290079 human ensembl 70_37 +1 known nonsense c.280 p.E94* 1.000 NULL NULL - no_errors TMEM141 HGNC TMEM145 284339 genome.wustl.edu 37 19 42820827 42820827 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 42820827 42820827 C T SNP TMEM145 ENST00000301204 human ensembl 70_37 +1 known silent c.741 p.F247 1.000 pfam_Rhodopsin-like_GPCR_TM_domain pfam_Rhodopsin-like_GPCR_TM_domain - no_errors TMEM145 HGNC TMEM198B 440104 genome.wustl.edu 37 12 56227056 56227056 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 56227056 56227056 G A SNP TMEM198B ENST00000482378 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TMEM198B HGNC TMEM203 94107 genome.wustl.edu 37 9 140099705 140099705 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 140099705 140099705 G A SNP TMEM203 ENST00000343666 human ensembl 70_37 -1 known silent c.162 p.F54 1.000 pfam_TM_Fragile-X-F-assoc pfam_TM_Fragile-X-F-assoc - no_errors TMEM203 HGNC TMEM209 84928 genome.wustl.edu 37 7 129821478 129821478 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 129821478 129821478 C G SNP TMEM209 ENST00000397622 human ensembl 70_37 -1 known missense c.1105 p.E369Q 1.000 pfam_Cytochrome_B561-rel pfam_Cytochrome_B561-rel - no_errors TMEM209 HGNC TMEM248 55069 genome.wustl.edu 37 7 66406858 66406858 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 66406858 66406858 C T SNP TMEM248 ENST00000341567 human ensembl 70_37 +1 known silent c.6 p.F2 0.052 NULL NULL - no_errors TMEM248 HGNC TMEM51 55092 genome.wustl.edu 37 1 15541866 15541866 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 15541866 15541866 G A SNP TMEM51 ENST00000376008 human ensembl 70_37 +1 known missense c.283 p.E95K 0.981 NULL NULL - no_errors TMEM51 HGNC TMEM81 388730 genome.wustl.edu 37 1 205052803 205052803 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 205052803 205052803 G A SNP TMEM81 ENST00000367167 human ensembl 70_37 -1 known missense c.646 p.H216Y 0.000 NULL pfscan_Ig-like - no_errors TMEM81 HGNC TMPPE 643853 genome.wustl.edu 37 3 33134488 33134488 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 33134488 33134488 C G SNP TMPPE ENST00000342462 human ensembl 70_37 -1 known missense c.1200 p.L400F 1.000 NULL pfam_Metallo_PEstase_dom - no_errors TMPPE HGNC TMTC2 160335 genome.wustl.edu 37 12 83251179 83251179 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 83251179 83251179 C G SNP TMTC2 ENST00000321196 human ensembl 70_37 +1 known missense c.474 p.H158Q 1.000 NULL 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 TNFAIP3 7128 genome.wustl.edu 37 6 138196079 138196079 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 138196079 138196079 G A SNP TNFAIP3 ENST00000237289 human ensembl 70_37 +1 known silent c.393 p.K131 1.000 pfam_OTU,pfscan_OTU pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors TNFAIP3 HGNC TNFRSF13B 23495 genome.wustl.edu 37 17 16843713 16843713 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 16843713 16843713 G A SNP TNFRSF13B ENST00000261652 human ensembl 70_37 -1 known silent c.558 p.L186 1.000 NULL pfam_TACI_Cys-rich-dom,prints_TNFR_13B - no_errors TNFRSF13B HGNC TNFRSF1B 7133 genome.wustl.edu 37 1 12266884 12266884 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 12266884 12266884 C A SNP TNFRSF1B ENST00000376259 human ensembl 70_37 +1 known missense c.1193 p.S398Y 0.947 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 TNPO1 3842 genome.wustl.edu 37 5 72173148 72173148 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 72173148 72173148 G C SNP TNPO1 ENST00000337273 human ensembl 70_37 +1 known missense c.895 p.D299H 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors TNPO1 HGNC TNPO1 3842 genome.wustl.edu 37 5 72204697 72204697 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 72204697 72204697 G A SNP TNPO1 ENST00000519220 human ensembl 70_37 +1 novel missense c.1157 p.G386E 1.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors TNPO1 HGNC TOP3B 8940 genome.wustl.edu 37 22 22314109 22314109 + Splice_Site SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 22314109 22314109 C G SNP TOP3B ENST00000357179 human ensembl 70_37 -1 known splice_site c.1655-1 e14-1 1.000 - - - no_errors TOP3B HGNC TOPAZ1 375337 genome.wustl.edu 37 3 44283784 44283784 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 44283784 44283784 G A SNP TOPAZ1 ENST00000309765 human ensembl 70_37 +1 known missense c.239 p.R80H 0.000 NULL NULL - no_errors TOPAZ1 HGNC TOX2 84969 genome.wustl.edu 37 20 42635383 42635383 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 42635383 42635383 C T SNP TOX2 ENST00000341197 human ensembl 70_37 +1 known missense c.362 p.S121F 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TOX2 HGNC TP53 7157 genome.wustl.edu 37 17 7577127 7577127 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 7577127 7577127 C T SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.811 p.E271K 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC TP53 7157 genome.wustl.edu 37 17 7578269 7578269 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 7578269 7578269 G A SNP TP53 ENST00000269305 human ensembl 70_37 -1 known missense c.580 p.L194F 0.996 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC TP53BP2 7159 genome.wustl.edu 37 1 223971928 223971928 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 223971928 223971928 C A SNP TP53BP2 ENST00000343537 human ensembl 70_37 -1 known missense c.3252 p.M1084I 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC TP73 7161 genome.wustl.edu 37 1 3638720 3638720 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 3638720 3638720 G A SNP TP73 ENST00000378295 human ensembl 70_37 +1 known missense c.565 p.D189N 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP73 HGNC TPI1 7167 genome.wustl.edu 37 12 6976718 6976718 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 6976718 6976718 C T SNP TPI1 ENST00000229270 human ensembl 70_37 +1 known silent c.99 p.L33 0.000 NULL pfam_Triosephosphate_isomerase,superfamily_Triosephosphate_isomerase,tigrfam_Triosephosphate_isomerase - no_errors TPI1 HGNC TPM2 7169 genome.wustl.edu 37 9 35684850 35684850 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 35684850 35684850 G A SNP TPM2 ENST00000471212 human ensembl 70_37 -1 known rna NULL NULL 0.439 - - - no_errors TPM2 HGNC TPSG1 25823 genome.wustl.edu 37 16 1273501 1273501 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 1273501 1273501 C T SNP TPSG1 ENST00000234798 human ensembl 70_37 -1 known missense c.167 p.R56H 0.534 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 TPSG1 HGNC TRAF3IP2-AS1 643749 genome.wustl.edu 37 6 111805174 111805174 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 111805174 111805174 G A SNP TRAF3IP2-AS1 ENST00000440001 human ensembl 70_37 +1 known rna NULL NULL 0.048 - - - no_errors TRAF3IP2-AS1 HGNC TRAM1 23471 genome.wustl.edu 37 8 71520420 71520420 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 71520420 71520420 C G SNP TRAM1 ENST00000262213 human ensembl 70_37 -1 known missense c.15 p.K5N 1.000 pirsf_Translocation_assoc_membrane pfam_TRAM1,pfam_TLC-dom,smart_TLC-dom,pirsf_Translocation_assoc_membrane,pfscan_TLC-dom - no_errors TRAM1 HGNC TRIM16L 147166 genome.wustl.edu 37 17 18638431 18638431 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 18638431 18638431 G A SNP TRIM16L ENST00000395902 human ensembl 70_37 +1 known silent c.867 p.Q289 0.999 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIM16L HGNC TRIM28 10155 genome.wustl.edu 37 19 59061167 59061167 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 59061167 59061167 C T SNP TRIM28 ENST00000253024 human ensembl 70_37 +1 known silent c.2046 p.L682 0.418 NULL pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors TRIM28 HGNC TRIM42 287015 genome.wustl.edu 37 3 140406965 140406965 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 140406965 140406965 G A SNP TRIM42 ENST00000286349 human ensembl 70_37 +1 known missense c.1441 p.E481K 0.950 NULL pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Znf_B-box,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM42 HGNC TRIM56 81844 genome.wustl.edu 37 7 100732201 100732201 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 100732201 100732201 C G SNP TRIM56 ENST00000306085 human ensembl 70_37 +1 known silent c.1608 p.L536 0.999 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_CheY-like_superfamily,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM56 HGNC TRIM56 81844 genome.wustl.edu 37 7 100732911 100732911 + RNA SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 100732911 100732911 G A SNP TRIM56 ENST00000487252 human ensembl 70_37 +1 putative rna NULL NULL 0.003 - - - no_errors TRIM56 HGNC TRIM9 114088 genome.wustl.edu 37 14 51467440 51467440 + Nonsense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 51467440 51467440 G T SNP TRIM9 ENST00000338969 human ensembl 70_37 -1 known nonsense c.1413 p.Y471* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC TRMT10A 93587 genome.wustl.edu 37 4 100472125 100472125 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 100472125 100472125 G A SNP TRMT10A ENST00000273962 human ensembl 70_37 -1 known missense c.668 p.S223L 0.991 pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10 pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10 - no_errors TRMT10A HGNC TROAP 10024 genome.wustl.edu 37 12 49721039 49721039 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 49721039 49721039 G A SNP TROAP ENST00000257909 human ensembl 70_37 +1 known missense c.817 p.E273K 1.000 NULL NULL - no_errors TROAP HGNC TRPC4 7223 genome.wustl.edu 37 13 38211095 38211095 + Missense_Mutation SNP T T A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 38211095 38211095 T A SNP TRPC4 ENST00000379681 human ensembl 70_37 -1 known missense c.2894 p.D965V 0.637 NULL pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC TRPC4 7223 genome.wustl.edu 37 13 38225483 38225483 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 38225483 38225483 G C SNP TRPC4 ENST00000379681 human ensembl 70_37 -1 known silent c.1998 p.L666 0.273 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC TRPC6 7225 genome.wustl.edu 37 11 101353715 101353715 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 101353715 101353715 G A SNP TRPC6 ENST00000344327 human ensembl 70_37 -1 known missense c.1475 p.S492L 1.000 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 31341613 31341613 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 31341613 31341613 G A SNP TRPM1 ENST00000542188 human ensembl 70_37 -1 known silent c.1588 p.L530 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM1 HGNC TSC1 7248 genome.wustl.edu 37 9 135797308 135797308 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 135797308 135797308 G C SNP TSC1 ENST00000298552 human ensembl 70_37 -1 known silent c.561 p.L187 0.998 pfam_Hamartin pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC TSGA10 80705 genome.wustl.edu 37 2 99721839 99721839 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 99721839 99721839 C G SNP TSGA10 ENST00000355053 human ensembl 70_37 -1 known missense c.442 p.E148Q 1.000 NULL NULL - no_errors TSGA10 HGNC TSPAN14 81619 genome.wustl.edu 37 10 82277895 82277895 + RNA SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 82277895 82277895 G T SNP TSPAN14 ENST00000265450 human ensembl 70_37 +1 known rna NULL NULL 0.871 - - - no_errors TSPAN14 HGNC TSR1 55720 genome.wustl.edu 37 17 2237775 2237775 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 2237775 2237775 C T SNP TSR1 ENST00000301364 human ensembl 70_37 -1 known missense c.972 p.M324I 0.793 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_elong_init/rib_B-barrel,smart_AARP2CN - no_errors TSR1 HGNC TSR2 90121 genome.wustl.edu 37 X 54470860 54470860 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 54470860 54470860 G A SNP TSR2 ENST00000375151 human ensembl 70_37 +1 known silent c.453 p.T151 0.086 NULL pfam_Pre-rRNA_process_TSR2 - no_errors TSR2 HGNC TTBK1 84630 genome.wustl.edu 37 6 43230657 43230657 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 43230657 43230657 G C SNP TTBK1 ENST00000259750 human ensembl 70_37 +1 known missense c.1555 p.E519Q 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 TTBK1 HGNC TTC25 83538 genome.wustl.edu 37 17 40091994 40091994 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 40091994 40091994 C T SNP TTC25 ENST00000377540 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors TTC25 HGNC TTC34 100287898 genome.wustl.edu 37 1 2704221 2704221 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 2704221 2704221 G A SNP TTC34 ENST00000401095 human ensembl 70_37 -1 known missense c.140 p.S47L 0.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC34 HGNC TTC5 91875 genome.wustl.edu 37 14 20757805 20757805 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 20757805 20757805 G A SNP TTC5 ENST00000258821 human ensembl 70_37 -1 known missense c.1304 p.S435L 0.738 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC5 HGNC TTC9B 148014 genome.wustl.edu 37 19 40723221 40723221 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 40723221 40723221 G C SNP TTC9B ENST00000311308 human ensembl 70_37 -1 known silent c.483 p.L161 1.000 pfscan_TPR-contain_dom pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC9B HGNC TTI1 9675 genome.wustl.edu 37 20 36640910 36640910 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 20 36640910 36640910 C G SNP TTI1 ENST00000373447 human ensembl 70_37 -1 known missense c.1309 p.E437Q 1.000 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC TTLL10-AS1 100506376 genome.wustl.edu 37 1 1109713 1109713 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 1109713 1109713 C T SNP TTLL10-AS1 ENST00000379317 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors TTLL10-AS1 HGNC TTN 7273 genome.wustl.edu 37 2 179399950 179399950 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 179399950 179399950 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.93688 p.E31230K 1.000 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 179406306 179406306 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 179406306 179406306 G A SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.89794 p.P29932S 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC TTN 7273 genome.wustl.edu 37 2 179407455 179407455 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 179407455 179407455 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.89422 p.E29808Q 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 179426276 179426276 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 179426276 179426276 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.76879 p.E25627K 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 179436389 179436389 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 179436389 179436389 C T SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.66766 p.D22256N 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 179467112 179467112 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 179467112 179467112 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known silent c.47313 p.L15771 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 179499121 179499121 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 179499121 179499121 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.34683 p.K11561N 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 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 179545833 179545833 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 179545833 179545833 C G SNP TTN ENST00000342992 human ensembl 70_37 -1 known missense c.29581 p.E9861Q 1.000 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 TUBA3D 113457 genome.wustl.edu 37 2 132235876 132235876 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 132235876 132235876 C G SNP TUBA3D ENST00000321253 human ensembl 70_37 +1 known missense c.143 p.S48C 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBA3D HGNC TYK2 7297 genome.wustl.edu 37 19 10468252 10468252 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 10468252 10468252 G A SNP TYK2 ENST00000529370 human ensembl 70_37 -1 putative missense c.2654 p.S885L 0.000 pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_TYK2_N,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TYK2 HGNC U2AF1 7307 genome.wustl.edu 37 21 44524456 44524456 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 21 44524456 44524456 G A SNP U2AF1 ENST00000291552 human ensembl 70_37 -1 known missense c.101 p.S34F 1.000 pfam_Znf_CCCH,smart_Znf_CCCH,prints_U2_small pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_U2_small - no_errors U2AF1 HGNC UBA3 9039 genome.wustl.edu 37 3 69124658 69124658 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 69124658 69124658 G C SNP UBA3 ENST00000361055 human ensembl 70_37 -1 known missense c.187 p.L63V 1.000 NULL pfam_ThiF_NAD_FAD-bd,pfam_E2_binding,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA3 HGNC UBAP1 51271 genome.wustl.edu 37 9 34249786 34249786 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 34249786 34249786 C T SNP UBAP1 ENST00000545103 human ensembl 70_37 +1 known missense c.1285 p.P429S 1.000 NULL superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP1 HGNC UBE2Q2 92912 genome.wustl.edu 37 15 76136055 76136055 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 76136055 76136055 C G SNP UBE2Q2 ENST00000267938 human ensembl 70_37 +1 known missense c.48 p.I16M 1.000 pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD pfam_UBQ-conjugat_E2,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q2 HGNC UBE2T 29089 genome.wustl.edu 37 1 202302443 202302443 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 202302443 202302443 G A SNP UBE2T ENST00000367274 human ensembl 70_37 -1 known silent c.306 p.L102 0.935 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 UBE2T HGNC UBE3C 9690 genome.wustl.edu 37 7 157060420 157060420 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 157060420 157060420 G C SNP UBE3C ENST00000348165 human ensembl 70_37 +1 known missense c.3223 p.E1075Q 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3C HGNC UBFD1 56061 genome.wustl.edu 37 16 23568823 23568823 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 23568823 23568823 C G SNP UBFD1 ENST00000219638 human ensembl 70_37 +1 known silent c.432 p.L144 0.000 NULL pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBFD1 HGNC UBXN7-AS1 100874034 genome.wustl.edu 37 3 196159282 196159282 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 196159282 196159282 C G SNP UBXN7-AS1 ENST00000442941 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors UBXN7-AS1 HGNC UCP1 7350 genome.wustl.edu 37 4 141484349 141484349 + Silent SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 141484349 141484349 C G SNP UCP1 ENST00000262999 human ensembl 70_37 -1 known silent c.543 p.L181 0.961 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_uncoupling - no_errors UCP1 HGNC UFD1L 7353 genome.wustl.edu 37 22 19452740 19452740 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 19452740 19452740 G C SNP UFD1L ENST00000263202 human ensembl 70_37 -1 known missense c.480 p.I160M 1.000 pfam_UFD1 pfam_UFD1 - no_errors UFD1L HGNC UGGT1 56886 genome.wustl.edu 37 2 128917157 128917157 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 128917157 128917157 C G SNP UGGT1 ENST00000259253 human ensembl 70_37 +1 known missense c.2425 p.Q809E 0.202 NULL pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC UNC13A 23025 genome.wustl.edu 37 19 17738365 17738365 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 17738365 17738365 C T SNP UNC13A ENST00000428389 human ensembl 70_37 -1 known silent c.4137 p.V1379 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_Ca-dep,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_membr_targeting,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC UNC5D 137970 genome.wustl.edu 37 8 35608103 35608103 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 35608103 35608103 G A SNP UNC5D ENST00000404895 human ensembl 70_37 +1 known missense c.1939 p.V647M 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC UNC80 285175 genome.wustl.edu 37 2 210752960 210752960 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 210752960 210752960 G C SNP UNC80 ENST00000439458 human ensembl 70_37 +1 known missense c.4258 p.D1420H 1.000 NULL NULL - no_errors UNC80 HGNC UPP2 151531 genome.wustl.edu 37 2 158980369 158980369 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 158980369 158980369 C T SNP UPP2 ENST00000409859 human ensembl 70_37 +1 known missense c.944 p.T315I 0.998 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP2 HGNC UQCRFS1 7386 genome.wustl.edu 37 19 29698958 29698958 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 29698958 29698958 C T SNP UQCRFS1 ENST00000304863 human ensembl 70_37 -1 known missense c.322 p.E108K 0.991 pfam_Ubiquinol_cyt_Rdtase_TM,superfamily_Ubiquinol_cyt_Rdtase_TM pfam_Ubiqinol_cyt_c_Rdtase_N,pfam_Ubiquinol_cyt_Rdtase_TM,pfam_Rieske_2Fe-2S,superfamily_Rieske_2Fe-2S,superfamily_Ubiquinol_cyt_Rdtase_TM,superfamily_Globular_prot_asu/bsu,prints_Rieske_Fe-S_prot_C,tigrfam_Ubiquinol_cyt_c_Rdtase_Fe-S-su - no_errors UQCRFS1 HGNC URGCP 55665 genome.wustl.edu 37 7 43916664 43916664 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 43916664 43916664 G A SNP URGCP ENST00000453200 human ensembl 70_37 -1 known silent c.2398 p.L800 0.915 NULL prints_GTP_binding_domain - no_errors URGCP HGNC URGCP 55665 genome.wustl.edu 37 7 43918600 43918600 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 43918600 43918600 C T SNP URGCP ENST00000453200 human ensembl 70_37 -1 known silent c.462 p.E154 0.000 NULL prints_GTP_binding_domain - no_errors URGCP HGNC USP28 57646 genome.wustl.edu 37 11 113685932 113685932 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 113685932 113685932 G A SNP USP28 ENST00000003302 human ensembl 70_37 -1 known nonsense c.1636 p.Q546* 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_UBA-like,pfscan_Peptidase_C19 - no_errors USP28 HGNC USP34 9736 genome.wustl.edu 37 2 61520659 61520659 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 61520659 61520659 C G SNP USP34 ENST00000398571 human ensembl 70_37 -1 known missense c.4488 p.Q1496H 0.996 superfamily_ARM-type_fold pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC USP45 85015 genome.wustl.edu 37 6 99893792 99893792 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 99893792 99893792 G A SNP USP45 ENST00000327681 human ensembl 70_37 -1 known missense c.1856 p.S619L 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP45 HGNC UXS1 80146 genome.wustl.edu 37 2 106710565 106710565 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 106710565 106710565 C T SNP UXS1 ENST00000283148 human ensembl 70_37 -1 known missense c.1195 p.E399K 1.000 NULL pfam_Epimerase_deHydtase,pfam_UXS1_N,pfam_dTDP_dehydrorham_reduct,pfam_Male_sterile_NAD-bd,pfam_3Beta_OHSteriod_DH/Estase - no_errors UXS1 HGNC VAV1 7409 genome.wustl.edu 37 19 6828465 6828465 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 6828465 6828465 G A SNP VAV1 ENST00000602142 human ensembl 70_37 +1 known silent c.1059 p.K353 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC VCX3A 51481 genome.wustl.edu 37 X 6451978 6451978 + Silent SNP T T C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 6451978 6451978 T C SNP VCX3A ENST00000381089 human ensembl 70_37 -1 known silent c.369 p.P123 0.001 NULL NULL - no_errors VCX3A HGNC VEGFA 7422 genome.wustl.edu 37 6 43745289 43745289 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 43745289 43745289 G A SNP VEGFA ENST00000372055 human ensembl 70_37 +1 known missense c.742 p.E248K 1.000 pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor - no_errors VEGFA HGNC VNN1 8876 genome.wustl.edu 37 6 133035100 133035100 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 133035100 133035100 G A SNP VNN1 ENST00000367928 human ensembl 70_37 -1 known silent c.75 p.F25 0.003 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 VNN1 HGNC VNN2 8875 genome.wustl.edu 37 6 133065601 133065601 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 133065601 133065601 C G SNP VNN2 ENST00000326499 human ensembl 70_37 -1 known missense c.1401 p.K467N 0.599 pirsf_Biotinidase_euk pirsf_Biotinidase_euk,pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pfscan_C-N_Hydrolase - no_errors VNN2 HGNC VPS11 55823 genome.wustl.edu 37 11 118938721 118938721 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 118938721 118938721 G C SNP VPS11 ENST00000300793 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors VPS11 HGNC VPS13A 23230 genome.wustl.edu 37 9 79932560 79932560 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 79932560 79932560 G A SNP VPS13A ENST00000360280 human ensembl 70_37 +1 known silent c.4902 p.Q1634 0.584 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC VPS13C 54832 genome.wustl.edu 37 15 62146686 62146686 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 62146686 62146686 C T SNP VPS13C ENST00000261517 human ensembl 70_37 -1 known silent c.11232 p.V3744 0.677 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC VPS13C 54832 genome.wustl.edu 37 15 62264905 62264905 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 62264905 62264905 C G SNP VPS13C ENST00000261517 human ensembl 70_37 -1 known missense c.2676 p.M892I 0.002 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC VPS41 27072 genome.wustl.edu 37 7 38860835 38860835 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 38860835 38860835 C G SNP VPS41 ENST00000310301 human ensembl 70_37 -1 known missense c.352 p.E118Q 1.000 superfamily_WD40_repeat_dom,pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC VPS45 11311 genome.wustl.edu 37 1 150048382 150048382 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 150048382 150048382 G C SNP VPS45 ENST00000369130 human ensembl 70_37 +1 known missense c.361 p.E121Q 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors VPS45 HGNC VPS52 6293 genome.wustl.edu 37 6 33218669 33218669 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 33218669 33218669 G C SNP VPS52 ENST00000445902 human ensembl 70_37 -1 known missense c.2121 p.I707M 1.000 NULL pfam_Vps52,pfam_Exocyst_Exoc1 - no_errors VPS52 HGNC VPS52 6293 genome.wustl.edu 37 6 33239391 33239391 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 33239391 33239391 G C SNP VPS52 ENST00000445902 human ensembl 70_37 -1 known nonsense c.62 p.S21* 0.984 NULL pfam_Vps52,pfam_Exocyst_Exoc1 - no_errors VPS52 HGNC VRTN 55237 genome.wustl.edu 37 14 74824600 74824600 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 14 74824600 74824600 G A SNP VRTN ENST00000256362 human ensembl 70_37 +1 known missense c.1114 p.E372K 0.906 NULL pfam_Transposase_8 - no_errors VRTN HGNC VSIG1 340547 genome.wustl.edu 37 X 107320497 107320497 + Silent SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 107320497 107320497 G T SNP VSIG1 ENST00000415430 human ensembl 70_37 +1 known silent c.1158 p.L386 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG1 HGNC VTN 7448 genome.wustl.edu 37 17 26695897 26695897 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 26695897 26695897 G A SNP VTN ENST00000226218 human ensembl 70_37 -1 known silent c.822 p.F274 1.000 pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat pfam_Hemopexin/matrixin_repeat,pfam_Somatomedin_B_dom,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors VTN HGNC VWA3B 200403 genome.wustl.edu 37 2 98834374 98834374 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 98834374 98834374 C G SNP VWA3B ENST00000477737 human ensembl 70_37 +1 known missense c.1902 p.F634L 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA3B HGNC VWA5B1 127731 genome.wustl.edu 37 1 20654436 20654436 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 20654436 20654436 C T SNP VWA5B1 ENST00000375089 human ensembl 70_37 +1 known silent c.1197 p.I399 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors VWA5B1 HGNC WDFY4 57705 genome.wustl.edu 37 10 49944021 49944021 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 49944021 49944021 C T SNP WDFY4 ENST00000325239 human ensembl 70_37 +1 known missense c.1784 p.S595L 0.994 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC WDR17 116966 genome.wustl.edu 37 4 177082071 177082071 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 177082071 177082071 G A SNP WDR17 ENST00000280190 human ensembl 70_37 +1 known missense c.2740 p.E914K 1.000 NULL 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 WDR17 HGNC WDR3 10885 genome.wustl.edu 37 1 118483799 118483799 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 118483799 118483799 G C SNP WDR3 ENST00000349139 human ensembl 70_37 +1 known missense c.842 p.R281T 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC WDR45 11152 genome.wustl.edu 37 X 48932479 48932479 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 48932479 48932479 C T SNP WDR45 ENST00000322995 human ensembl 70_37 -1 known missense c.1099 p.D367N 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45 HGNC WDR65 149465 genome.wustl.edu 37 1 43719755 43719755 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 43719755 43719755 G A SNP WDR65 ENST00000372492 human ensembl 70_37 +1 novel missense c.3646 p.D1216N 1.000 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 44120326 44120326 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 15 44120326 44120326 C G SNP WDR76 ENST00000263795 human ensembl 70_37 +1 known missense c.224 p.S75C 0.980 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR76 HGNC WDSUB1 151525 genome.wustl.edu 37 2 160139519 160139519 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 160139519 160139519 G C SNP WDSUB1 ENST00000359774 human ensembl 70_37 -1 known missense c.62 p.S21C 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_Ubox_domain,pfam_SAM_2,pfam_SAM_type1,pfam_Pointed_dom,superfamily_WD40_repeat_dom,superfamily_SAM/pointed,smart_WD40_repeat,smart_SAM,smart_Ubox_domain,pfscan_SAM,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDSUB1 HGNC WNK2 65268 genome.wustl.edu 37 9 96009920 96009920 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 96009920 96009920 C G SNP WNK2 ENST00000297954 human ensembl 70_37 +1 known missense c.1638 p.I546M 0.997 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK2 HGNC WNT7B 7477 genome.wustl.edu 37 22 46319212 46319212 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 46319212 46319212 G C SNP WNT7B ENST00000339464 human ensembl 70_37 -1 known missense c.574 p.L192V 1.000 pfam_Wnt,smart_Wnt,prints_Wnt7 pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7B HGNC XCR1 2829 genome.wustl.edu 37 3 46063162 46063162 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 46063162 46063162 C T SNP XCR1 ENST00000309285 human ensembl 70_37 -1 known nonsense c.278 p.W93* 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_lymphotactin_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC XCR1 2829 genome.wustl.edu 37 3 46063418 46063418 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 46063418 46063418 C G SNP XCR1 ENST00000309285 human ensembl 70_37 -1 known missense c.22 p.E8Q 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_lymphotactin_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC XIST 7503 genome.wustl.edu 37 X 73043579 73043579 + RNA SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 73043579 73043579 C A SNP XIST ENST00000429829 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC XPO4 64328 genome.wustl.edu 37 13 21395946 21395946 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 13 21395946 21395946 C T SNP XPO4 ENST00000255305 human ensembl 70_37 -1 known missense c.1070 p.R357Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC XRCC1 7515 genome.wustl.edu 37 19 44056964 44056964 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 44056964 44056964 G A SNP XRCC1 ENST00000262887 human ensembl 70_37 -1 known missense c.808 p.P270S 0.000 NULL pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors XRCC1 HGNC YWHAQ 10971 genome.wustl.edu 37 2 9728405 9728405 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 9728405 9728405 C G SNP YWHAQ ENST00000238081 human ensembl 70_37 -1 known missense c.471 p.K157N 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAQ HGNC ZBED4 9889 genome.wustl.edu 37 22 50279300 50279300 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 22 50279300 50279300 G A SNP ZBED4 ENST00000216268 human ensembl 70_37 +1 known missense c.1990 p.E664K 1.000 NULL pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED4 HGNC ZBTB7B 51043 genome.wustl.edu 37 1 154987929 154987929 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 154987929 154987929 G A SNP ZBTB7B ENST00000417934 human ensembl 70_37 +1 known missense c.895 p.E299K 0.968 NULL 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 ZBTB7B HGNC ZC3H12C 85463 genome.wustl.edu 37 11 110008101 110008101 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 11 110008101 110008101 G C SNP ZC3H12C ENST00000278590 human ensembl 70_37 +1 known silent c.735 p.L245 0.990 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12C HGNC ZC3H7A 29066 genome.wustl.edu 37 16 11859530 11859530 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 11859530 11859530 C G SNP ZC3H7A ENST00000355758 human ensembl 70_37 -1 known missense c.1534 p.E512Q 0.999 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H7A HGNC ZCCHC16 340595 genome.wustl.edu 37 X 111698092 111698092 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 111698092 111698092 G T SNP ZCCHC16 ENST00000340433 human ensembl 70_37 +1 known missense c.136 p.A46S 0.000 NULL superfamily_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC16 HGNC ZCCHC17 51538 genome.wustl.edu 37 1 31821808 31821808 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 31821808 31821808 G C SNP ZCCHC17 ENST00000422613 human ensembl 70_37 +1 known missense c.557 p.R186T 1.000 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors ZCCHC17 HGNC ZCWPW1 55063 genome.wustl.edu 37 7 100001352 100001352 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 100001352 100001352 C T SNP ZCWPW1 ENST00000398027 human ensembl 70_37 -1 known missense c.1375 p.E459K 0.000 NULL pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW - no_errors ZCWPW1 HGNC ZCWPW1 55063 genome.wustl.edu 37 7 100001358 100001358 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 100001358 100001358 C T SNP ZCWPW1 ENST00000398027 human ensembl 70_37 -1 known missense c.1369 p.E457K 0.003 NULL pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW - no_errors ZCWPW1 HGNC ZCWPW1 55063 genome.wustl.edu 37 7 100002656 100002656 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 100002656 100002656 C T SNP ZCWPW1 ENST00000398027 human ensembl 70_37 -1 known missense c.1231 p.A411T 0.981 NULL pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW - no_errors ZCWPW1 HGNC ZDHHC15 158866 genome.wustl.edu 37 X 74725672 74725672 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 74725672 74725672 C T SNP ZDHHC15 ENST00000373367 human ensembl 70_37 -1 known silent c.147 p.L49 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC15 HGNC ZDHHC23 254887 genome.wustl.edu 37 3 113678541 113678541 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 113678541 113678541 C G SNP ZDHHC23 ENST00000488129 human ensembl 70_37 +1 putative rna NULL NULL 0.008 - - - no_errors ZDHHC23 HGNC ZDHHC6 64429 genome.wustl.edu 37 10 114194092 114194092 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 114194092 114194092 C T SNP ZDHHC6 ENST00000369405 human ensembl 70_37 -1 known nonsense c.866 p.W289* 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfam_SH3_2,superfamily_SH3_domain,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC6 HGNC ZDHHC9 51114 genome.wustl.edu 37 X 128947660 128947660 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 128947660 128947660 G A SNP ZDHHC9 ENST00000357166 human ensembl 70_37 -1 known missense c.667 p.P223S 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC9 HGNC ZFP36L2 678 genome.wustl.edu 37 2 43452399 43452399 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 43452399 43452399 C T SNP ZFP36L2 ENST00000282388 human ensembl 70_37 -1 known missense c.544 p.E182K 1.000 NULL pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ZFX 7543 genome.wustl.edu 37 X 24229099 24229099 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a X 24229099 24229099 C T SNP ZFX ENST00000540034 human ensembl 70_37 +1 known missense c.2141 p.S714L 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ZFYVE16 9765 genome.wustl.edu 37 5 79770494 79770494 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 79770494 79770494 C G SNP ZFYVE16 ENST00000338008 human ensembl 70_37 +1 known missense c.4306 p.L1436V 1.000 pfam_DUF3480,pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ZFYVE20 64145 genome.wustl.edu 37 3 15116161 15116161 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 15116161 15116161 C T SNP ZFYVE20 ENST00000253699 human ensembl 70_37 -1 known missense c.1483 p.E495K 1.000 pfam_Rbsn pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ZKSCAN2 342357 genome.wustl.edu 37 16 25251138 25251138 + Nonstop_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 25251138 25251138 C G SNP ZKSCAN2 ENST00000328086 human ensembl 70_37 -1 known nonstop c.2903 p.*968S 0.037 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN2 HGNC ZKSCAN2 342357 genome.wustl.edu 37 16 25251184 25251184 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 25251184 25251184 C G SNP ZKSCAN2 ENST00000328086 human ensembl 70_37 -1 known missense c.2857 p.E953Q 0.949 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN2 HGNC ZKSCAN5 23660 genome.wustl.edu 37 7 99129642 99129642 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 99129642 99129642 C T SNP ZKSCAN5 ENST00000326775 human ensembl 70_37 +1 known nonsense c.2290 p.Q764* 0.976 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN5 HGNC ZMYND10 51364 genome.wustl.edu 37 3 50380604 50380604 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 50380604 50380604 C G SNP ZMYND10 ENST00000231749 human ensembl 70_37 -1 known missense c.544 p.E182Q 1.000 pirsf_UCP037948_Znf-MYND pfam_Znf_MYND,pirsf_UCP037948_Znf-MYND,pfscan_Znf_MYND - no_errors ZMYND10 HGNC ZNF10 7556 genome.wustl.edu 37 12 133733057 133733057 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 12 133733057 133733057 G A SNP ZNF10 ENST00000248211 human ensembl 70_37 +1 known missense c.1225 p.E409K 0.594 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 ZNF10 HGNC ZNF114 163071 genome.wustl.edu 37 19 48789654 48789654 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 48789654 48789654 G A SNP ZNF114 ENST00000315849 human ensembl 70_37 +1 known missense c.773 p.R258K 0.000 NULL 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 ZNF114 HGNC ZNF114 163071 genome.wustl.edu 37 19 48789971 48789971 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 48789971 48789971 G A SNP ZNF114 ENST00000315849 human ensembl 70_37 +1 known missense c.1090 p.E364K 0.003 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 ZNF114 HGNC ZNF12 7559 genome.wustl.edu 37 7 6730895 6730895 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 6730895 6730895 G C SNP ZNF12 ENST00000405858 human ensembl 70_37 -1 known missense c.1678 p.Q560E 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 ZNF12 HGNC ZNF12 7559 genome.wustl.edu 37 7 6731026 6731026 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 6731026 6731026 G C SNP ZNF12 ENST00000405858 human ensembl 70_37 -1 known nonsense c.1547 p.S516* 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 ZNF12 HGNC ZNF12 7559 genome.wustl.edu 37 7 6731056 6731056 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 6731056 6731056 G C SNP ZNF12 ENST00000405858 human ensembl 70_37 -1 known nonsense c.1517 p.S506* 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 ZNF12 HGNC ZNF12 7559 genome.wustl.edu 37 7 6732156 6732156 + Silent SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 6732156 6732156 G C SNP ZNF12 ENST00000405858 human ensembl 70_37 -1 known silent c.417 p.L139 0.980 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 ZNF12 HGNC ZNF142 7701 genome.wustl.edu 37 2 219513523 219513523 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 219513523 219513523 C T SNP ZNF142 ENST00000411696 human ensembl 70_37 -1 known missense c.1108 p.E370K 0.975 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ZNF142 7701 genome.wustl.edu 37 2 219515149 219515149 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 2 219515149 219515149 C G SNP ZNF142 ENST00000411696 human ensembl 70_37 -1 known missense c.381 p.E127D 0.010 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ZNF180 7733 genome.wustl.edu 37 19 45001414 45001414 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 45001414 45001414 G A SNP ZNF180 ENST00000590088 human ensembl 70_37 -1 known missense c.59 p.S20L 0.010 NULL NULL - no_errors ZNF180 HGNC ZNF189 7743 genome.wustl.edu 37 9 104170480 104170480 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 9 104170480 104170480 G C SNP ZNF189 ENST00000339664 human ensembl 70_37 +1 known missense c.430 p.E144Q 1.000 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 ZNF189 HGNC ZNF211 10520 genome.wustl.edu 37 19 58152132 58152132 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 58152132 58152132 G C SNP ZNF211 ENST00000240731 human ensembl 70_37 +1 known missense c.317 p.R106T 0.001 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 ZNF211 HGNC ZNF234 10780 genome.wustl.edu 37 19 44661172 44661172 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 44661172 44661172 C G SNP ZNF234 ENST00000426739 human ensembl 70_37 +1 known missense c.1003 p.Q335E 0.147 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 ZNF234 HGNC ZNF248 57209 genome.wustl.edu 37 10 38120188 38120188 + RNA SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 38120188 38120188 C T SNP ZNF248 ENST00000494133 human ensembl 70_37 -1 known rna NULL NULL 0.994 - - - no_errors ZNF248 HGNC ZNF250 58500 genome.wustl.edu 37 8 146107136 146107136 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 146107136 146107136 C T SNP ZNF250 ENST00000292579 human ensembl 70_37 -1 known missense c.1447 p.E483K 0.452 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 ZNF250 HGNC ZNF251 90987 genome.wustl.edu 37 8 145948354 145948354 + Missense_Mutation SNP G G T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 145948354 145948354 G T SNP ZNF251 ENST00000292562 human ensembl 70_37 -1 known missense c.691 p.H231N 0.997 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 ZNF251 HGNC ZNF251 90987 genome.wustl.edu 37 8 145948737 145948737 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 145948737 145948737 G C SNP ZNF251 ENST00000292562 human ensembl 70_37 -1 known missense c.308 p.S103C 0.172 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 ZNF251 HGNC ZNF287 57336 genome.wustl.edu 37 17 16456437 16456437 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 17 16456437 16456437 G A SNP ZNF287 ENST00000395824 human ensembl 70_37 -1 known missense c.1019 p.S340F 0.001 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF287 HGNC ZNF318 24149 genome.wustl.edu 37 6 43322647 43322647 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 43322647 43322647 G C SNP ZNF318 ENST00000361428 human ensembl 70_37 -1 known missense c.2425 p.Q809E 0.999 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ZNF354B 117608 genome.wustl.edu 37 5 178310916 178310916 + Missense_Mutation SNP A A G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 178310916 178310916 A G SNP ZNF354B ENST00000322434 human ensembl 70_37 +1 known missense c.1463 p.H488R 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 ZNF354B HGNC ZNF365 22891 genome.wustl.edu 37 10 64416242 64416242 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 64416242 64416242 G C SNP ZNF365 ENST00000410046 human ensembl 70_37 +1 known missense c.1216 p.E406Q 0.009 NULL NULL - no_errors ZNF365 HGNC ZNF37A 7587 genome.wustl.edu 37 10 38407182 38407182 + Nonsense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 38407182 38407182 C A SNP ZNF37A ENST00000351773 human ensembl 70_37 +1 known nonsense c.1103 p.S368* 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 ZNF37A HGNC ZNF423 23090 genome.wustl.edu 37 16 49671685 49671685 + Missense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 49671685 49671685 C A SNP ZNF423 ENST00000262383 human ensembl 70_37 -1 known missense c.1378 p.V460F 1.000 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF423 HGNC ZNF439 90594 genome.wustl.edu 37 19 11979141 11979141 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 11979141 11979141 C G SNP ZNF439 ENST00000304030 human ensembl 70_37 +1 known missense c.1257 p.F419L 0.629 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF439 HGNC ZNF507 22847 genome.wustl.edu 37 19 32838121 32838121 + RNA SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 32838121 32838121 G C SNP ZNF507 ENST00000588686 human ensembl 70_37 +1 known rna NULL NULL 1.000 - - - no_errors ZNF507 HGNC ZNF518B 85460 genome.wustl.edu 37 4 10446572 10446572 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 10446572 10446572 C G SNP ZNF518B ENST00000326756 human ensembl 70_37 -1 known missense c.1381 p.E461Q 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF518B HGNC ZNF528 84436 genome.wustl.edu 37 19 52909928 52909928 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 52909928 52909928 C T SNP ZNF528 ENST00000594530 human ensembl 70_37 +1 putative silent c.303 p.P101 0.000 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF528 HGNC ZNF536 9745 genome.wustl.edu 37 19 31039367 31039367 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 31039367 31039367 G A SNP ZNF536 ENST00000355537 human ensembl 70_37 +1 known missense c.2841 p.M947I 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ZNF551 90233 genome.wustl.edu 37 19 58197986 58197986 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 58197986 58197986 G C SNP ZNF551 ENST00000356715 human ensembl 70_37 +1 known missense c.343 p.D115H 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 - no_errors ZNF551 HGNC ZNF551 90233 genome.wustl.edu 37 19 58198826 58198826 + Missense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 58198826 58198826 G C SNP ZNF551 ENST00000356715 human ensembl 70_37 +1 known missense c.1183 p.E395Q 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 ZNF551 HGNC ZNF583 147949 genome.wustl.edu 37 19 56935048 56935048 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 56935048 56935048 C T SNP ZNF583 ENST00000291598 human ensembl 70_37 +1 known nonsense c.1021 p.Q341* 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 ZNF583 HGNC ZNF586 54807 genome.wustl.edu 37 19 58290285 58290285 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 58290285 58290285 C T SNP ZNF586 ENST00000396150 human ensembl 70_37 +1 known missense c.203 p.T68I 0.262 NULL NULL - no_errors ZNF586 HGNC ZNF586 54807 genome.wustl.edu 37 19 58290446 58290446 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 58290446 58290446 C T SNP ZNF586 ENST00000396154 human ensembl 70_37 +1 known missense c.491 p.S164L 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 ZNF586 HGNC ZNF608 57507 genome.wustl.edu 37 5 123984157 123984157 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 123984157 123984157 C G SNP ZNF608 ENST00000306315 human ensembl 70_37 -1 known missense c.1920 p.K640N 1.000 NULL NULL - no_errors ZNF608 HGNC ZNF608 57507 genome.wustl.edu 37 5 123984798 123984798 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 5 123984798 123984798 C G SNP ZNF608 ENST00000306315 human ensembl 70_37 -1 known missense c.1279 p.E427Q 1.000 NULL NULL - no_errors ZNF608 HGNC ZNF613 79898 genome.wustl.edu 37 19 52443915 52443915 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 52443915 52443915 G A SNP ZNF613 ENST00000293471 human ensembl 70_37 +1 known missense c.188 p.G63E 0.062 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 ZNF613 HGNC ZNF620 253639 genome.wustl.edu 37 3 40558125 40558125 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 3 40558125 40558125 C G SNP ZNF620 ENST00000314529 human ensembl 70_37 +1 known missense c.1040 p.S347C 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 ZNF620 HGNC ZNF625 90589 genome.wustl.edu 37 19 12256835 12256835 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 12256835 12256835 C G SNP ZNF625 ENST00000439556 human ensembl 70_37 -1 known missense c.396 p.Q132H 0.867 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 ZNF625 HGNC ZNF667 63934 genome.wustl.edu 37 19 56953219 56953219 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 56953219 56953219 C G SNP ZNF667 ENST00000342634 human ensembl 70_37 -1 known missense c.1529 p.G510A 0.011 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 ZNF667 HGNC ZNF697 90874 genome.wustl.edu 37 1 120168533 120168533 + Nonsense_Mutation SNP G G C TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 120168533 120168533 G C SNP ZNF697 ENST00000421812 human ensembl 70_37 -1 known nonsense c.191 p.S64* 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF697 HGNC ZNF7 7553 genome.wustl.edu 37 8 146068094 146068094 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 8 146068094 146068094 C T SNP ZNF7 ENST00000325241 human ensembl 70_37 +1 known silent c.1602 p.F534 0.476 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 ZNF7 HGNC ZNF721 170960 genome.wustl.edu 37 4 437142 437142 + Missense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 4 437142 437142 G A SNP ZNF721 ENST00000511833 human ensembl 70_37 -1 known missense c.1114 p.R372W 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ZNF747 65988 genome.wustl.edu 37 16 30545824 30545824 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 16 30545824 30545824 C G SNP ZNF747 ENST00000535210 human ensembl 70_37 -1 known missense c.177 p.R59S 0.993 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF747 HGNC ZNF765 91661 genome.wustl.edu 37 19 53911453 53911453 + Silent SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 53911453 53911453 C T SNP ZNF765 ENST00000396408 human ensembl 70_37 +1 known silent c.645 p.F215 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 ZNF765 HGNC ZNF791 163049 genome.wustl.edu 37 19 12739205 12739205 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 12739205 12739205 C T SNP ZNF791 ENST00000343325 human ensembl 70_37 +1 known nonsense c.862 p.R288* 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 ZNF791 HGNC ZNF8 7554 genome.wustl.edu 37 19 58806708 58806708 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 58806708 58806708 C G SNP ZNF8 ENST00000196548 human ensembl 70_37 +1 known missense c.1534 p.L512V 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 ZNF8 HGNC ZNF804B 219578 genome.wustl.edu 37 7 88962775 88962775 + Missense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 88962775 88962775 C T SNP ZNF804B ENST00000333190 human ensembl 70_37 +1 known missense c.479 p.S160L 0.005 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ZNF829 374899 genome.wustl.edu 37 19 37399292 37399292 + Nonsense_Mutation SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 37399292 37399292 G A SNP ZNF829 ENST00000520965 human ensembl 70_37 -1 known nonsense c.409 p.Q137* 0.976 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 ZNF829 HGNC ZRANB2 9406 genome.wustl.edu 37 1 71530062 71530062 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 1 71530062 71530062 C G SNP ZRANB2 ENST00000477096 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZRANB2 HGNC ZSCAN18 65982 genome.wustl.edu 37 19 58601751 58601751 + Silent SNP G G A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 19 58601751 58601751 G A SNP ZSCAN18 ENST00000600404 human ensembl 70_37 -1 known silent c.52 p.L18 0.017 NULL pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN18 HGNC ZSWIM8 23053 genome.wustl.edu 37 10 75557291 75557291 + Missense_Mutation SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 75557291 75557291 C G SNP ZSWIM8 ENST00000398706 human ensembl 70_37 +1 known missense c.3590 p.S1197C 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ZUFSP 221302 genome.wustl.edu 37 6 116988229 116988229 + Nonsense_Mutation SNP C C A TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 6 116988229 116988229 C A SNP ZUFSP ENST00000368576 human ensembl 70_37 -1 known nonsense c.127 p.E43* 1.000 smart_Znf_C2H2-like pfam_Peptidase_C78_UfSP1/2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZUFSP HGNC ZWINT 11130 genome.wustl.edu 37 10 58118056 58118056 + RNA SNP C C G TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 10 58118056 58118056 C G SNP ZWINT ENST00000478181 human ensembl 70_37 -1 known rna NULL NULL 0.000 - - - no_errors ZWINT HGNC ZYX 7791 genome.wustl.edu 37 7 143080071 143080071 + Nonsense_Mutation SNP C C T TCGA-IR-A3LA-01A-11D-A22X-09 TCGA-IR-A3LA-10A-01D-A22X-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 618a9c00-9d35-4a6a-9b03-261f30d75897 ee0f12d6-333d-4e0b-8d4d-266025e9e71a 7 143080071 143080071 C T SNP ZYX ENST00000322764 human ensembl 70_37 +1 known nonsense c.679 p.Q227* 0.756 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZYX HGNC