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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ABCA1 0 genome.wustl.edu 37 9 107562237 107562237 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 9 107562237 107562237 G A SNP ABCA1 ENST00000374736 human ensembl 69_37n -1 known silent c.4806 p.I1602 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 61 0 0.00 63 27 30.00 - - - ABCA8 0 genome.wustl.edu 37 17 66924181 66924181 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 17 66924181 66924181 C G SNP ABCA8 ENST00000430352 human ensembl 69_37n -1 known missense c.1149 p.L383F 0.998 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 66 0 0.00 52 19 26.76 - - - ABCB10 0 genome.wustl.edu 37 1 229683381 229683381 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 229683381 229683381 G C SNP ABCB10 ENST00000344517 human ensembl 69_37n -1 known missense c.786 p.F262L 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB10 HGNC ENSG00000135776 60 0 0.00 119 19 13.77 - - - ABCC12 0 genome.wustl.edu 37 16 48162479 48162479 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 16 48162479 48162479 G A SNP ABCC12 ENST00000311303 human ensembl 69_37n -1 known missense c.1406 p.S469L 0.000 pfscan_ABC_transporter-like 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 - no_errors ABCC12 HGNC ENSG00000140798 149 1 0.67 505 60 10.60 - - - ADAMTS18 0 genome.wustl.edu 37 16 77327078 77327078 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 16 77327078 77327078 C T SNP ADAMTS18 ENST00000282849 human ensembl 69_37n -1 known silent c.3084 p.E1028 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 32 0 0.00 9 10 50.00 - - - ADAMTS4 0 genome.wustl.edu 37 1 161166344 161166344 + Silent SNP C C A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 161166344 161166344 C A SNP ADAMTS4 ENST00000367995 human ensembl 69_37n -1 known silent c.960 p.V320 1.000 NULL pfam_Peptidase_M12B_N - no_errors ADAMTS4 HGNC ENSG00000158859 57 0 0.00 50 31 38.27 - - - ADNP 0 genome.wustl.edu 37 20 49510991 49510991 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 20 49510991 49510991 G C SNP ADNP ENST00000349014 human ensembl 69_37n -1 known missense c.260 p.S87C 1.000 smart_Znf_C2H2-like pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ADNP HGNC ENSG00000101126 55 0 0.00 44 15 25.42 - - - AFTPH 0 genome.wustl.edu 37 2 64780084 64780084 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 64780084 64780084 G C SNP AFTPH ENST00000422803 human ensembl 69_37n +1 known missense c.1476 p.E492D 0.898 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 123 0 0.00 72 32 30.77 - - - AHNAK2 0 genome.wustl.edu 37 14 105406830 105406830 + Silent SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 14 105406830 105406830 G C SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known silent c.14958 p.L4986 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 74 0 0.00 46 18 28.12 - - - AHNAK2 0 genome.wustl.edu 37 14 105413693 105413693 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 14 105413693 105413693 G C SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known missense c.8095 p.Q2699E 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 94 0 0.00 59 25 29.76 - - - AIM1 0 genome.wustl.edu 37 6 106967799 106967799 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 6 106967799 106967799 G C SNP AIM1 ENST00000369066 human ensembl 69_37n +1 known missense c.1492 p.E498Q 0.556 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 ENSG00000112297 26 0 0.00 6 4 40.00 - - - AMOT 0 genome.wustl.edu 37 X 112058819 112058819 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 X 112058819 112058819 G C SNP AMOT ENST00000371959 human ensembl 69_37n -1 known missense c.1159 p.H387D 0.212 NULL pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 46 0 0.00 63 27 30.00 - - - ANP32E 0 genome.wustl.edu 37 1 150199026 150199026 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 150199026 150199026 C G SNP ANP32E ENST00000314136 human ensembl 69_37n -1 known missense c.595 p.D199H 0.992 NULL pfam_Leu-rich_rpt - no_errors ANP32E HGNC ENSG00000143401 326 0 0.00 549 201 26.80 - - - ANXA9 0 genome.wustl.edu 37 1 150967079 150967079 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 150967079 150967079 G A SNP ANXA9 ENST00000368947 human ensembl 69_37n +1 known silent c.879 p.L293 0.987 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXXXI - no_errors ANXA9 HGNC ENSG00000143412 123 0 0.00 188 36 16.07 - - - AP2A1 0 genome.wustl.edu 37 19 50303369 50303369 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 50303369 50303369 G A SNP AP2A1 ENST00000359032 human ensembl 69_37n +1 known missense c.1417 p.D473N 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 33 0 0.00 40 22 35.48 - - - APBA2 0 genome.wustl.edu 37 15 29346361 29346361 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 15 29346361 29346361 G A SNP APBA2 ENST00000558259 human ensembl 69_37n +1 known missense c.274 p.E92K 1.000 NULL pfam_PTyr_interaction_dom,pfam_PDZ,superfamily_PDZ,smart_PTyr_interaction_dom,smart_PDZ,pfscan_PDZ,pfscan_PTyr_interaction_dom - no_errors APBA2 HGNC ENSG00000034053 27 0 0.00 11 9 45.00 - - - APOB 0 genome.wustl.edu 37 2 21231201 21231201 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 21231201 21231201 C G SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.8539 p.G2847R 0.003 NULL 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 ENSG00000084674 82 0 0.00 44 30 40.00 - - - ARFGEF2 0 genome.wustl.edu 37 20 47621682 47621682 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 20 47621682 47621682 G A SNP ARFGEF2 ENST00000371917 human ensembl 69_37n +1 known missense c.3508 p.E1170K 1.000 pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7 - no_errors ARFGEF2 HGNC ENSG00000124198 123 0 0.00 96 30 23.81 - - - ARMC3 0 genome.wustl.edu 37 10 23250863 23250863 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 10 23250863 23250863 C G SNP ARMC3 ENST00000298032 human ensembl 69_37n +1 known missense c.588 p.I196M 0.011 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 91 0 0.00 67 27 28.72 - - - ASPRV1 0 genome.wustl.edu 37 2 70187836 70187836 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 70187836 70187836 C T SNP ASPRV1 ENST00000320256 human ensembl 69_37n -1 known missense c.985 p.E329K 0.996 NULL pfam_Peptidase_aspartic_euk-pred,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic,pfscan_Peptidase_A2_cat - no_errors ASPRV1 HGNC ENSG00000244617 55 0 0.00 43 12 21.82 - - - ASPRV1 0 genome.wustl.edu 37 2 70188183 70188183 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 70188183 70188183 G A SNP ASPRV1 ENST00000320256 human ensembl 69_37n -1 known missense c.638 p.S213F 0.954 pfam_Peptidase_aspartic_euk-pred,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic,pfscan_Peptidase_A2_cat pfam_Peptidase_aspartic_euk-pred,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic,pfscan_Peptidase_A2_cat - no_errors ASPRV1 HGNC ENSG00000244617 65 0 0.00 27 17 38.64 - - - ASTN2 0 genome.wustl.edu 37 9 119625984 119625984 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 9 119625984 119625984 C G SNP ASTN2 ENST00000313400 human ensembl 69_37n -1 known missense c.1918 p.E640Q 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 66 0 0.00 44 22 33.33 - - - ATG14 0 genome.wustl.edu 37 14 55848870 55848870 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 14 55848870 55848870 C T SNP ATG14 ENST00000247178 human ensembl 69_37n -1 known missense c.687 p.M229I 1.000 pfam_UV_resistance/autophagy_Atg14 pfam_UV_resistance/autophagy_Atg14 - no_errors ATG14 HGNC ENSG00000126775 93 0 0.00 59 18 23.38 - - - ATN1 0 genome.wustl.edu 37 12 7046168 7046168 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 12 7046168 7046168 C G SNP ATN1 ENST00000356654 human ensembl 69_37n +1 known missense c.1738 p.Q580E 0.996 pfam_Atrophin-like pfam_Atrophin-like,prints_Atrophin-1 - no_errors ATN1 HGNC ENSG00000111676 38 0 0.00 24 9 27.27 - - - ATP13A5 0 genome.wustl.edu 37 3 193032846 193032846 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 193032846 193032846 G A SNP ATP13A5 ENST00000342358 human ensembl 69_37n -1 known silent c.2073 p.L691 0.947 superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_cation-exchng_asu,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A5 HGNC ENSG00000187527 70 0 0.00 38 15 28.30 - - - ATP2B3 0 genome.wustl.edu 37 X 152845591 152845591 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 X 152845591 152845591 G C SNP ATP2B3 ENST00000263519 human ensembl 69_37n +1 known missense c.3498 p.E1166D 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B3 HGNC ENSG00000067842 24 0 0.00 16 4 20.00 - - - ATP4B 0 genome.wustl.edu 37 13 114309253 114309253 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 13 114309253 114309253 C G SNP ATP4B ENST00000335288 human ensembl 69_37n -1 known missense c.117 p.W39C 1.000 pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu - no_errors ATP4B HGNC ENSG00000186009 32 0 0.00 25 10 28.57 - - - ATP4B 0 genome.wustl.edu 37 13 114312444 114312444 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 13 114312444 114312444 C G SNP ATP4B ENST00000335288 human ensembl 69_37n -1 known missense c.16 p.E6Q 1.000 pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu - no_errors ATP4B HGNC ENSG00000186009 15 0 0.00 15 7 31.82 - - - B3GNTL1 0 genome.wustl.edu 37 17 80915078 80915078 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 17 80915078 80915078 G A SNP B3GNTL1 ENST00000320865 human ensembl 69_37n -1 known silent c.909 p.F303 1.000 NULL pfam_Glyco_trans_2 - no_errors B3GNTL1 HGNC ENSG00000175711 81 0 0.00 117 28 19.31 - - - B4GALT5 0 genome.wustl.edu 37 20 48256231 48256231 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 20 48256231 48256231 C G SNP B4GALT5 ENST00000371711 human ensembl 69_37n -1 known missense c.901 p.D301H 1.000 pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met pfam_Galactosyl_T_2_met,prints_Galactosyl_T_2_met - no_errors B4GALT5 HGNC ENSG00000158470 61 0 0.00 84 21 20.00 - - - BAZ2B 0 genome.wustl.edu 37 2 160176856 160176856 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 160176856 160176856 C T SNP BAZ2B ENST00000392783 human ensembl 69_37n -1 known missense c.6427 p.D2143N 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 ENSG00000123636 112 0 0.00 76 31 28.97 - - - BTN3A2 0 genome.wustl.edu 37 6 26368441 26368441 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 6 26368441 26368441 C T SNP BTN3A2 ENST00000356386 human ensembl 69_37n +1 known silent c.31 p.L11 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors BTN3A2 HGNC ENSG00000186470 284 0 0.00 324 139 30.02 - - - BTNL9 0 genome.wustl.edu 37 5 180477193 180477193 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 180477193 180477193 G C SNP BTNL9 ENST00000376842 human ensembl 69_37n +1 known missense c.560 p.R187T 0.020 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like - no_errors BTNL9 HGNC ENSG00000165810 36 0 0.00 30 13 30.23 - - - C15orf26 0 genome.wustl.edu 37 15 81436030 81436030 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 15 81436030 81436030 C G SNP C15orf26 ENST00000286732 human ensembl 69_37n +1 known missense c.505 p.L169V 0.924 NULL NULL - no_errors C15orf26 HGNC ENSG00000156206 101 0 0.00 69 28 28.87 - - - CACNA1F 0 genome.wustl.edu 37 X 49071937 49071937 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 X 49071937 49071937 C T SNP CACNA1F ENST00000376265 human ensembl 69_37n -1 known silent c.3336 p.E1112 0.997 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 97 0 0.00 91 44 32.59 - - - CAMK4 0 genome.wustl.edu 37 5 110712636 110712636 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 110712636 110712636 G C SNP CAMK4 ENST00000282356 human ensembl 69_37n +1 known missense c.382 p.D128H 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 CAMK4 HGNC ENSG00000152495 98 0 0.00 36 19 34.55 - - - CAMK4 0 genome.wustl.edu 37 5 110814119 110814119 + Nonsense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 110814119 110814119 C T SNP CAMK4 ENST00000282356 human ensembl 69_37n +1 known nonsense c.742 p.Q248* 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 CAMK4 HGNC ENSG00000152495 76 0 0.00 46 14 23.33 - - - CAMKK2 0 genome.wustl.edu 37 12 121693401 121693401 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 12 121693401 121693401 C T SNP CAMKK2 ENST00000324774 human ensembl 69_37n -1 known missense c.859 p.D287N 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 CAMKK2 HGNC ENSG00000110931 58 0 0.00 18 12 40.00 - - - CAMSAP2 0 genome.wustl.edu 37 1 200801337 200801337 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 200801337 200801337 C T SNP CAMSAP2 ENST00000236925 human ensembl 69_37n +1 known missense c.688 p.R230W 1.000 pfam_CH-domain,superfamily_CH-domain pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 115 0 0.00 216 40 15.62 - - - CAMTA2 0 genome.wustl.edu 37 17 4872102 4872102 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 17 4872102 4872102 C T SNP CAMTA2 ENST00000414043 human ensembl 69_37n -1 known missense c.3625 p.E1209K 0.990 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-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 30 0 0.00 20 10 33.33 - - - CAPN8 0 genome.wustl.edu 37 1 223718144 223718144 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 223718144 223718144 G A SNP CAPN8 ENST00000366872 human ensembl 69_37n -1 known silent c.1836 p.L612 0.995 NULL pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN8 HGNC ENSG00000203697 71 0 0.00 97 18 15.65 - - - CATSPER2 0 genome.wustl.edu 37 15 43939258 43939258 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 15 43939258 43939258 C T SNP CATSPER2 ENST00000299989 human ensembl 69_37n -1 known missense c.378 p.M126I 1.000 NULL pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 108 0 0.00 79 30 27.52 - - - CCDC132 0 genome.wustl.edu 37 7 92979256 92979256 + Nonsense_Mutation SNP G G T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 92979256 92979256 G T SNP CCDC132 ENST00000305866 human ensembl 69_37n +1 known nonsense c.2374 p.E792* 1.000 pfam_DUF2451_C pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC ENSG00000004766 104 0 0.00 52 20 27.78 - - - CCDC144B 0 genome.wustl.edu 37 17 18528419 18528419 + RNA SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 17 18528419 18528419 C G SNP CCDC144B ENST00000450277 human ensembl 69_37n -1 known rna NULL NULL 0.009 - - - no_errors CCDC144B HGNC ENSG00000154874 22 0 0.00 18 6 25.00 - - - CCDC169 0 genome.wustl.edu 37 13 36805331 36805331 + Nonstop_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 13 36805331 36805331 C G SNP CCDC169 ENST00000239859 human ensembl 69_37n -1 known nonstop c.644 p.*215S 0.944 NULL NULL - no_errors CCDC169 HGNC ENSG00000242715 193 0 0.00 130 55 29.73 - - - CCDC60 0 genome.wustl.edu 37 12 119960749 119960749 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 12 119960749 119960749 G A SNP CCDC60 ENST00000327554 human ensembl 69_37n +1 known missense c.1046 p.R349K 0.030 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 86 0 0.00 69 29 29.59 - - - CCDC88A 0 genome.wustl.edu 37 2 55573390 55573390 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 55573390 55573390 C G SNP CCDC88A ENST00000436346 human ensembl 69_37n -1 known missense c.962 p.R321T 1.000 pfam_HOOK pfam_HOOK,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 172 0 0.00 106 41 27.89 - - - CCDC88C 0 genome.wustl.edu 37 14 91757388 91757388 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 14 91757388 91757388 C T SNP CCDC88C ENST00000389857 human ensembl 69_37n -1 known missense c.4153 p.E1385K 1.000 NULL pfam_HOOK,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 203 0 0.00 137 56 29.02 - - - CCDC90A 0 genome.wustl.edu 37 6 13801535 13801535 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 6 13801535 13801535 G A SNP CCDC90A ENST00000379170 human ensembl 69_37n -1 known silent c.726 p.L242 0.998 pfam_DUF1640 pfam_DUF1640 - no_errors CCDC90A HGNC ENSG00000050393 95 0 0.00 80 28 25.93 - - - CCNL2 0 genome.wustl.edu 37 1 1328173 1328173 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 1328173 1328173 C T SNP CCNL2 ENST00000481223 human ensembl 69_37n -1 known missense c.670 p.E224K 1.000 pirsf_Cyclin_L pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL2 HGNC ENSG00000221978 64 0 0.00 16 32 66.67 - - - CCT3 0 genome.wustl.edu 37 1 156303431 156303431 + Nonsense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 156303431 156303431 G A SNP CCT3 ENST00000295688 human ensembl 69_37n -1 known nonsense c.211 p.Q71* 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_gamma pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma - no_errors CCT3 HGNC ENSG00000163468 84 0 0.00 140 27 16.17 - - - CCT6P1 0 genome.wustl.edu 37 7 65220808 65220808 + RNA SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 65220808 65220808 G A SNP CCT6P1 ENST00000442266 human ensembl 69_37n +1 known rna NULL NULL 0.973 - - - no_errors CCT6P1 HGNC ENSG00000228409 59 0 0.00 41 25 37.88 - - - CD3E 0 genome.wustl.edu 37 11 118179150 118179150 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 118179150 118179150 G A SNP CD3E ENST00000361763 human ensembl 69_37n +1 known missense c.79 p.E27K 0.000 NULL pfam_Phos_immunorcpt_sig_ITAM,smart_Ig_sub2,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM - no_errors CD3E HGNC ENSG00000198851 91 0 0.00 25 18 41.86 - - - CDC42BPB 0 genome.wustl.edu 37 14 103466003 103466003 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 14 103466003 103466003 G A SNP CDC42BPB ENST00000361246 human ensembl 69_37n -1 known silent c.495 p.L165 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_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,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,smart_PAK_box_Rho-bd,prints_DAG/PE-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPB HGNC ENSG00000198752 100 0 0.00 76 18 19.15 - - - CDH1 0 genome.wustl.edu 37 16 68849593 68849594 + Frame_Shift_Ins INS - - G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 16 68849593 68849594 - G INS CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_ins c.1496_1497 p.F499fs 0.962:0.001 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 90 0 0.00 41 31 43.06 - - - CELSR2 0 genome.wustl.edu 37 1 109813147 109813147 + Nonsense_Mutation SNP G G T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 109813147 109813147 G T SNP CELSR2 ENST00000271332 human ensembl 69_37n +1 known nonsense c.7408 p.E2470* 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 68 0 0.00 29 46 61.33 - - - CELSR2 0 genome.wustl.edu 37 1 109813628 109813628 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 109813628 109813628 G C SNP CELSR2 ENST00000271332 human ensembl 69_37n +1 known missense c.7563 p.W2521C 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 56 0 0.00 22 31 58.49 - - - CELSR2 0 genome.wustl.edu 37 1 109813902 109813902 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 109813902 109813902 G C SNP CELSR2 ENST00000271332 human ensembl 69_37n +1 known missense c.7660 p.E2554Q 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 44 0 0.00 11 23 67.65 - - - CELSR3 0 genome.wustl.edu 37 3 48694738 48694738 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 48694738 48694738 G A SNP CELSR3 ENST00000544264 human ensembl 69_37n -1 known silent c.3792 p.V1264 1.000 superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EGF-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 13 0 0.00 12 7 36.84 - - - CEP350 0 genome.wustl.edu 37 1 179989616 179989616 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 179989616 179989616 C T SNP CEP350 ENST00000367607 human ensembl 69_37n +1 known missense c.2707 p.H903Y 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 62 0 0.00 89 14 13.59 - - - CEP63 0 genome.wustl.edu 37 3 134266255 134266255 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 134266255 134266255 G A SNP CEP63 ENST00000337090 human ensembl 69_37n +1 known silent c.1008 p.L336 0.998 NULL NULL - no_errors CEP63 HGNC ENSG00000182923 84 0 0.00 55 18 24.66 - - - CFTR 0 genome.wustl.edu 37 7 117227866 117227866 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 117227866 117227866 G C SNP CFTR ENST00000003084 human ensembl 69_37n +1 known missense c.1658 p.R553P 1.000 pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 98 0 0.00 50 24 32.43 - - - CFTR 0 genome.wustl.edu 37 7 117251828 117251828 + Nonsense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 117251828 117251828 C G SNP CFTR ENST00000468795 human ensembl 69_37n +1 putative nonsense c.158 p.S53* 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,prints_CysFib_conduc_TM,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,prints_CysFib_conduc_TM,pfscan_ABC_transporter_type1 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CFTR HGNC ENSG00000001626 88 0 0.00 60 25 29.41 - - - CHIC1 0 genome.wustl.edu 37 X 72783181 72783181 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 X 72783181 72783181 G A SNP CHIC1 ENST00000373502 human ensembl 69_37n +1 known missense c.61 p.E21K 1.000 NULL pfam_Golgin_A_7/ERF4 - no_errors CHIC1 HGNC ENSG00000204116 11 0 0.00 12 5 27.78 - - - CHRNA6 0 genome.wustl.edu 37 8 42620327 42620327 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 8 42620327 42620327 C T SNP CHRNA6 ENST00000276410 human ensembl 69_37n -1 known missense c.100 p.E34K 0.998 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA6 HGNC ENSG00000147434 47 0 0.00 36 15 29.41 - - - CHTOP 0 genome.wustl.edu 37 1 153617600 153617600 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 153617600 153617600 G A SNP CHTOP ENST00000368694 human ensembl 69_37n +1 known missense c.602 p.R201Q 1.000 NULL NULL - no_errors CHTOP HGNC ENSG00000160679 59 0 0.00 95 15 13.64 - - - CIRBP 0 genome.wustl.edu 37 19 1271007 1271007 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 1271007 1271007 C G SNP CIRBP ENST00000444172 human ensembl 69_37n +1 known missense c.23 p.S8C 0.996 NULL NULL - no_errors CIRBP HGNC ENSG00000099622 110 0 0.00 79 22 21.78 - - - CLEC2A 0 genome.wustl.edu 37 12 10066206 10066206 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 12 10066206 10066206 C G SNP CLEC2A ENST00000455827 human ensembl 69_37n -1 known missense c.484 p.D162H 0.930 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 CLEC2A HGNC ENSG00000188393 115 0 0.00 64 30 31.91 - - - CLIP2 0 genome.wustl.edu 37 7 73771716 73771716 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 73771716 73771716 G A SNP CLIP2 ENST00000223398 human ensembl 69_37n +1 known missense c.1124 p.R375Q 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 10 0 0.00 3 4 57.14 - - - CLU 0 genome.wustl.edu 37 8 27457503 27457503 + Nonsense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 8 27457503 27457503 G A SNP CLU ENST00000560366 human ensembl 69_37n -1 known nonsense c.1114 p.Q372* 0.981 pfam_Clusterin-like,smart_Clusterin_C pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLU HGNC ENSG00000120885 70 0 0.00 45 27 37.50 - - - CNIH2 0 genome.wustl.edu 37 11 66050245 66050245 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 66050245 66050245 G A SNP CNIH2 ENST00000311445 human ensembl 69_37n +1 known silent c.192 p.L64 0.998 pfam_Cornichon pfam_Cornichon - no_errors CNIH2 HGNC ENSG00000174871 37 0 0.00 16 4 20.00 - - - CNTNAP2 0 genome.wustl.edu 37 7 148080896 148080896 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 148080896 148080896 G A SNP CNTNAP2 ENST00000361727 human ensembl 69_37n +1 known missense c.3631 p.E1211K 1.000 pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 33 0 0.00 14 6 30.00 - - - CNTNAP3B 0 genome.wustl.edu 37 9 43876087 43876087 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 9 43876087 43876087 G A SNP CNTNAP3B ENST00000377564 human ensembl 69_37n +1 known missense c.2179 p.E727K 0.965 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3B HGNC ENSG00000154529 26 0 0.00 15 4 21.05 - - - CNTRL 0 genome.wustl.edu 37 9 123904482 123904482 + Silent SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 9 123904482 123904482 C G SNP CNTRL ENST00000238341 human ensembl 69_37n +1 known silent c.2805 p.L935 0.999 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 55 0 0.00 33 18 35.29 - - - CNTRL 0 genome.wustl.edu 37 9 123914776 123914776 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 9 123914776 123914776 C G SNP CNTRL ENST00000238341 human ensembl 69_37n +1 known missense c.3977 p.S1326C 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 75 0 0.00 57 21 26.92 - - - CNTRL 0 genome.wustl.edu 37 9 123919814 123919814 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 9 123919814 123919814 G A SNP CNTRL ENST00000238341 human ensembl 69_37n +1 known missense c.4432 p.E1478K 0.999 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 89 0 0.00 71 31 30.39 - - - COL25A1 0 genome.wustl.edu 37 4 110222887 110222887 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 4 110222887 110222887 G C SNP COL25A1 ENST00000399132 human ensembl 69_37n -1 known missense c.289 p.L97V 1.000 NULL pfam_Collagen - no_errors COL25A1 HGNC ENSG00000188517 81 0 0.00 74 33 30.84 - - - COL6A2 0 genome.wustl.edu 37 21 47552403 47552403 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 21 47552403 47552403 G A SNP COL6A2 ENST00000300527 human ensembl 69_37n +1 known silent c.2997 p.E999 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 20 0 0.00 12 7 36.84 - - - COX8A 0 genome.wustl.edu 37 11 63742177 63742177 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 63742177 63742177 C T SNP COX8A ENST00000314133 human ensembl 69_37n +1 known silent c.25 p.L9 1.000 NULL pfam_Cyt_c_oxidase_su8,superfamily_Cyt_c_oxidase_su8 - no_errors COX8A HGNC ENSG00000176340 21 0 0.00 5 9 64.29 - - - CPSF1 0 genome.wustl.edu 37 8 145621563 145621563 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 8 145621563 145621563 C T SNP CPSF1 ENST00000349769 human ensembl 69_37n -1 known silent c.2979 p.Q993 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 10 0 0.00 9 5 35.71 - - - CRMP1 0 genome.wustl.edu 37 4 5830269 5830269 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 4 5830269 5830269 G A SNP CRMP1 ENST00000324989 human ensembl 69_37n -1 known missense c.1750 p.P584S 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 44 0 0.00 43 15 25.86 - - - CTDSPL 0 genome.wustl.edu 37 3 37988634 37988634 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 37988634 37988634 G C SNP CTDSPL ENST00000273179 human ensembl 69_37n +1 known missense c.166 p.E56Q 1.000 NULL pfam_NIF,superfamily_HAD-like_dom,smart_NIF,pfscan_NIF,tigrfam_Dullard_phosphatase - no_errors CTDSPL HGNC ENSG00000144677 30 0 0.00 20 9 31.03 - - - CTSZ 0 genome.wustl.edu 37 20 57571764 57571764 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 20 57571764 57571764 G A SNP CTSZ ENST00000217131 human ensembl 69_37n -1 known missense c.731 p.S244F 0.942 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSZ HGNC ENSG00000101160 84 0 0.00 67 25 27.17 - - - CXorf36 0 genome.wustl.edu 37 X 45013388 45013388 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 X 45013388 45013388 C T SNP CXorf36 ENST00000398000 human ensembl 69_37n -1 known missense c.728 p.R243K 0.950 NULL NULL - no_errors CXorf36 HGNC ENSG00000147113 12 0 0.00 11 7 38.89 - - - CYP7B1 0 genome.wustl.edu 37 8 65527649 65527649 + Nonsense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 8 65527649 65527649 G A SNP CYP7B1 ENST00000310193 human ensembl 69_37n -1 known nonsense c.991 p.Q331* 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,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 85 0 0.00 79 29 26.85 - - - DDX17 0 genome.wustl.edu 37 22 38882173 38882173 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 22 38882173 38882173 G C SNP DDX17 ENST00000396821 human ensembl 69_37n -1 known missense c.1963 p.Q655E 0.790 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 DDX17 HGNC ENSG00000100201 84 0 0.00 61 34 35.79 - - - DDX46 0 genome.wustl.edu 37 5 134164380 134164380 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 134164380 134164380 G A SNP DDX46 ENST00000452510 human ensembl 69_37n +1 known missense c.3083 p.R1028K 1.000 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 DDX46 HGNC ENSG00000145833 104 0 0.00 56 12 17.65 - - - DIP2C 0 genome.wustl.edu 37 10 323392 323392 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 10 323392 323392 C G SNP DIP2C ENST00000280886 human ensembl 69_37n -1 known missense c.4544 p.G1515A 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 76 0 0.00 81 25 23.58 - - - DISP1 0 genome.wustl.edu 37 1 223177316 223177316 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 223177316 223177316 G C SNP DISP1 ENST00000284476 human ensembl 69_37n +1 known missense c.2577 p.W859C 1.000 NULL pfam_Patched,pfam_MMPL-typ,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 56 0 0.00 75 13 14.77 - - - DMGDH 0 genome.wustl.edu 37 5 78350099 78350099 + Nonsense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 78350099 78350099 G A SNP DMGDH ENST00000255189 human ensembl 69_37n -1 known nonsense c.448 p.Q150* 1.000 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG - no_errors DMGDH HGNC ENSG00000132837 114 0 0.00 58 27 31.76 - - - DNAH10 0 genome.wustl.edu 37 12 124397850 124397850 + Nonsense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 12 124397850 124397850 C T SNP DNAH10 ENST00000540041 human ensembl 69_37n +1 putative nonsense c.769 p.Q257* 0.998 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DNAH10 HGNC ENSG00000197653 45 0 0.00 24 15 38.46 - - - DNAH10 0 genome.wustl.edu 37 12 124408387 124408387 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 12 124408387 124408387 C G SNP DNAH10 ENST00000409039 human ensembl 69_37n +1 known missense c.11230 p.Q3744E 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 48 0 0.00 43 15 25.86 - - - DNAH11 0 genome.wustl.edu 37 7 21784183 21784183 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 21784183 21784183 G A SNP DNAH11 ENST00000328843 human ensembl 69_37n +1 known missense c.8303 p.R2768K 0.989 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 92 0 0.00 45 38 45.78 - - - DNM1L 0 genome.wustl.edu 37 12 32895575 32895575 + Nonsense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 12 32895575 32895575 C T SNP DNM1L ENST00000553257 human ensembl 69_37n +1 known nonsense c.2086 p.Q696* 1.000 pfam_GED,smart_GED pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,smart_Dynamin_GTPase,smart_GED,prints_Dynamin - no_errors DNM1L HGNC ENSG00000087470 120 0 0.00 61 37 37.76 - - - DNPEP 0 genome.wustl.edu 37 2 220247855 220247855 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 220247855 220247855 C G SNP DNPEP ENST00000273075 human ensembl 69_37n -1 known missense c.934 p.E312Q 1.000 pfam_Peptidase_M18,prints_Peptidase_M18 pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18 - no_errors DNPEP HGNC ENSG00000123992 53 0 0.00 29 10 25.64 - - - DOCK6 0 genome.wustl.edu 37 19 11361688 11361688 + Silent SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 11361688 11361688 C G SNP DOCK6 ENST00000294618 human ensembl 69_37n -1 known silent c.582 p.L194 1.000 NULL pfam_DOCK,pfam_DUF3398 - no_errors DOCK6 HGNC ENSG00000130158 19 0 0.00 10 9 47.37 - - - DONSON 0 genome.wustl.edu 37 21 34951791 34951791 + Nonsense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 21 34951791 34951791 G C SNP DONSON ENST00000437395 human ensembl 69_37n -1 novel nonsense c.1340 p.S447* 0.995 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DONSON HGNC ENSG00000159147 73 0 0.00 76 27 26.21 - - - DSN1 0 genome.wustl.edu 37 20 35381196 35381196 + Nonsense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 20 35381196 35381196 G A SNP DSN1 ENST00000373745 human ensembl 69_37n -1 known nonsense c.1066 p.Q356* 0.532 NULL pfam_Mtw1_DSN1 - no_errors DSN1 HGNC ENSG00000149636 97 0 0.00 114 46 28.75 - - - DUOX2 0 genome.wustl.edu 37 15 45389584 45389584 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 15 45389584 45389584 G A SNP DUOX2 ENST00000389039 human ensembl 69_37n -1 known silent c.3699 p.I1233 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal - no_errors DUOX2 HGNC ENSG00000140279 82 0 0.00 86 26 23.21 - - - EBF1 0 genome.wustl.edu 37 5 158139314 158139314 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 158139314 158139314 G A SNP EBF1 ENST00000313708 human ensembl 69_37n -1 known missense c.1397 p.S466L 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,superfamily_HLH_DNA-bd,smart_IPT_TIG_rcpt - no_errors EBF1 HGNC ENSG00000164330 76 0 0.00 39 13 25.00 - - - ECM1 0 genome.wustl.edu 37 1 150482631 150482631 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 150482631 150482631 C G SNP ECM1 ENST00000369049 human ensembl 69_37n +1 known missense c.439 p.L147V 0.030 pfam_ECM1 pfam_ECM1,superfamily_Serum_albumin-like - no_errors ECM1 HGNC ENSG00000143369 72 0 0.00 86 16 15.69 - - - EFCAB6 0 genome.wustl.edu 37 22 44178059 44178059 + Splice_Site SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 22 44178059 44178059 C T SNP EFCAB6 ENST00000262726 human ensembl 69_37n -1 known splice_site c.139+1 e1+1 0.995 - - - no_errors EFCAB6 HGNC ENSG00000186976 104 0 0.00 80 40 33.33 - - - EIF2AK3 0 genome.wustl.edu 37 2 88857341 88857341 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 88857341 88857341 G A SNP EIF2AK3 ENST00000303236 human ensembl 69_37n -1 known silent c.3264 p.L1088 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EIF2AK3 HGNC ENSG00000172071 171 0 0.00 138 61 30.65 - - - EIF3D 0 genome.wustl.edu 37 22 36907562 36907562 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 22 36907562 36907562 C G SNP EIF3D ENST00000216190 human ensembl 69_37n -1 known missense c.1621 p.E541Q 0.982 pirsf_EIF-3_zeta pfam_EIF-3_zeta,pirsf_EIF-3_zeta - no_errors EIF3D HGNC ENSG00000100353 49 0 0.00 57 24 29.63 - - - EIF4A3 0 genome.wustl.edu 37 17 78110058 78110058 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 17 78110058 78110058 G A SNP EIF4A3 ENST00000269349 human ensembl 69_37n -1 known missense c.1060 p.L354F 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 EIF4A3 HGNC ENSG00000141543 103 0 0.00 116 20 14.71 - - - ENPP7 0 genome.wustl.edu 37 17 77710899 77710899 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 17 77710899 77710899 G A SNP ENPP7 ENST00000328313 human ensembl 69_37n +1 known missense c.1086 p.M362I 1.000 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core - no_errors ENPP7 HGNC ENSG00000182156 35 0 0.00 24 27 52.94 - - - EPB41 0 genome.wustl.edu 37 1 29314172 29314172 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 29314172 29314172 G C SNP EPB41 ENST00000343067 human ensembl 69_37n +1 known missense c.223 p.E75Q 1.000 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 70 0 0.00 23 22 48.89 - - - EPB41L4A 0 genome.wustl.edu 37 5 111531377 111531377 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 111531377 111531377 C G SNP EPB41L4A ENST00000261486 human ensembl 69_37n -1 known missense c.1405 p.D469H 0.997 NULL pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L4A HGNC ENSG00000129595 206 0 0.00 209 87 29.39 - - - EPN1 0 genome.wustl.edu 37 19 56189070 56189070 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 56189070 56189070 C G SNP EPN1 ENST00000411543 human ensembl 69_37n +1 known missense c.202 p.L68V 0.000 NULL pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN1 HGNC ENSG00000063245 104 0 0.00 84 35 29.41 - - - EPN2 0 genome.wustl.edu 37 17 19215401 19215401 + Nonsense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 17 19215401 19215401 C T SNP EPN2 ENST00000314728 human ensembl 69_37n +1 known nonsense c.916 p.Q306* 1.000 smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN2 HGNC ENSG00000072134 76 0 0.00 51 40 43.96 - - - ERCC6 0 genome.wustl.edu 37 10 50678569 50678569 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 10 50678569 50678569 C G SNP ERCC6 ENST00000355832 human ensembl 69_37n -1 known missense c.3437 p.S1146T 0.001 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 115 0 0.00 35 14 28.57 - - - EVPL 0 genome.wustl.edu 37 17 74013937 74013937 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 17 74013937 74013937 C T SNP EVPL ENST00000301607 human ensembl 69_37n -1 known missense c.1593 p.M531I 1.000 NULL pfam_Plectin_repeat,superfamily_Ferritin/RR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 38 0 0.00 13 14 51.85 - - - F5 0 genome.wustl.edu 37 1 169510871 169510871 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 169510871 169510871 G C SNP F5 ENST00000367796 human ensembl 69_37n -1 known missense c.3472 p.L1158V 0.000 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 123 0 0.00 102 29 22.14 - - - FAM105A 0 genome.wustl.edu 37 5 14601228 14601228 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 14601228 14601228 G A SNP FAM105A ENST00000274217 human ensembl 69_37n +1 known silent c.219 p.L73 0.992 NULL prints_FAM105,prints_FAM105A - no_errors FAM105A HGNC ENSG00000145569 97 0 0.00 63 35 35.71 - - - FAM120A 0 genome.wustl.edu 37 9 96238576 96238576 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 9 96238576 96238576 C T SNP FAM120A ENST00000333936 human ensembl 69_37n +1 known missense c.760 p.H254Y 1.000 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 169 0 0.00 130 63 32.47 - - - FAM120A 0 genome.wustl.edu 37 9 96261150 96261150 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 9 96261150 96261150 C T SNP FAM120A ENST00000333936 human ensembl 69_37n +1 known missense c.1012 p.H338Y 1.000 NULL NULL - no_errors FAM120A HGNC ENSG00000048828 110 1 0.90 64 30 31.91 - - - FAM13B 0 genome.wustl.edu 37 5 137289107 137289107 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 137289107 137289107 C G SNP FAM13B ENST00000033079 human ensembl 69_37n -1 known missense c.1700 p.R567T 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 181 0 0.00 163 49 23.11 - - - FAM22F 0 genome.wustl.edu 37 9 97080967 97080967 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 9 97080967 97080967 C G SNP FAM22F ENST00000253262 human ensembl 69_37n -1 known missense c.2051 p.R684T 0.001 NULL NULL - no_errors FAM22F HGNC ENSG00000130950 116 0 0.00 103 15 12.71 - - - FAM48A 0 genome.wustl.edu 37 13 37584769 37584769 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 13 37584769 37584769 C T SNP FAM48A ENST00000350612 human ensembl 69_37n -1 known missense c.2122 p.E708K 1.000 NULL pfam_Spt20 - no_errors FAM48A HGNC ENSG00000102710 75 0 0.00 47 26 35.62 - - - FAM65A 0 genome.wustl.edu 37 16 67578631 67578631 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 16 67578631 67578631 G A SNP FAM65A ENST00000422602 human ensembl 69_37n +1 known missense c.2827 p.E943K 1.000 NULL superfamily_ARM-type_fold,superfamily_HR1_rho-bd - no_errors FAM65A HGNC ENSG00000039523 14 0 0.00 7 6 46.15 - - - FAT1 0 genome.wustl.edu 37 4 187628122 187628122 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 4 187628122 187628122 G A SNP FAT1 ENST00000441802 human ensembl 69_37n -1 known missense c.2860 p.P954S 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 59 0 0.00 38 18 32.14 - - - FAT4 0 genome.wustl.edu 37 4 126369700 126369700 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 4 126369700 126369700 C T SNP FAT4 ENST00000394329 human ensembl 69_37n +1 known missense c.7529 p.S2510F 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 59 0 0.00 44 15 25.42 - - - FBF1 0 genome.wustl.edu 37 17 73910890 73910890 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 17 73910890 73910890 C T SNP FBF1 ENST00000389570 human ensembl 69_37n -1 known missense c.2710 p.E904K 0.922 NULL superfamily_HRDC-like - no_errors FBF1 HGNC ENSG00000188878 11 0 0.00 10 9 47.37 - - - FBXO32 0 genome.wustl.edu 37 8 124544170 124544170 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 8 124544170 124544170 G C SNP FBXO32 ENST00000517956 human ensembl 69_37n -1 known missense c.340 p.L114V 1.000 NULL superfamily_F-box_dom_cyclin-like - no_errors FBXO32 HGNC ENSG00000156804 72 0 0.00 69 20 22.47 - - - FCGBP 0 genome.wustl.edu 37 19 40367774 40367774 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 40367774 40367774 C T SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known missense c.13186 p.V4396M 1.000 pfam_TIL_dom,superfamily_TIL_dom,smart_EGF-like 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_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 20 0 0.00 8 16 66.67 - - - FCGBP 0 genome.wustl.edu 37 19 40433879 40433879 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 40433879 40433879 C T SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known silent c.390 p.L130 0.860 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 53 0 0.00 41 18 30.51 - - - FGD2 0 genome.wustl.edu 37 6 36995215 36995215 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 6 36995215 36995215 C T SNP FGD2 ENST00000274963 human ensembl 69_37n +1 known missense c.1616 p.S539L 0.000 NULL pfam_DH-domain,pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD2 HGNC ENSG00000146192 24 0 0.00 20 9 31.03 - - - FHOD3 0 genome.wustl.edu 37 18 34326920 34326920 + Nonsense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 18 34326920 34326920 C G SNP FHOD3 ENST00000592930 human ensembl 69_37n +1 putative nonsense c.2810 p.S937* 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FHOD3 HGNC ENSG00000134775 65 0 0.00 32 24 42.86 - - - FKBP4 0 genome.wustl.edu 37 12 2910381 2910381 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 12 2910381 2910381 G A SNP FKBP4 ENST00000539181 human ensembl 69_37n +1 putative missense c.38 p.R13K 1.000 pfscan_TPR-contain_dom pfscan_TPR-contain_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FKBP4 HGNC ENSG00000004478 37 0 0.00 32 15 31.91 - - - FLG2 0 genome.wustl.edu 37 1 152325364 152325364 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 152325364 152325364 G C SNP FLG2 ENST00000388718 human ensembl 69_37n -1 known missense c.4898 p.S1633C 0.007 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 275 0 0.00 696 275 28.32 - - - FOXA1 0 genome.wustl.edu 37 14 38061312 38061312 + Missense_Mutation SNP T T C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 14 38061312 38061312 T C SNP FOXA1 ENST00000250448 human ensembl 69_37n -1 known missense c.677 p.D226G 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA1 HGNC ENSG00000129514 45 0 0.00 29 13 30.95 - - - FOXN4 0 genome.wustl.edu 37 12 109725248 109725248 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 12 109725248 109725248 G C SNP FOXN4 ENST00000299162 human ensembl 69_37n -1 known missense c.550 p.Q184E 0.971 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN4 HGNC ENSG00000139445 34 0 0.00 7 6 46.15 - - - FRMD4B 0 genome.wustl.edu 37 3 69230351 69230351 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 69230351 69230351 C G SNP FRMD4B ENST00000398540 human ensembl 69_37n -1 known missense c.2550 p.Q850H 0.102 NULL pfam_DUF3338,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,pfscan_FERM_domain - no_errors FRMD4B HGNC ENSG00000114541 58 0 0.00 42 15 26.32 - - - FTSJ2 0 genome.wustl.edu 37 7 2274964 2274964 + Silent SNP G G T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 2274964 2274964 G T SNP FTSJ2 ENST00000242257 human ensembl 69_37n -1 known silent c.534 p.L178 0.999 pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E pfam_rRNA_MeTrfase_FtsJ_dom,pirsf_rRNA-MeTfrase_E - no_errors FTSJ2 HGNC ENSG00000122687 88 0 0.00 48 23 32.39 - - - GAB3 0 genome.wustl.edu 37 X 153924289 153924289 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 X 153924289 153924289 C T SNP GAB3 ENST00000424127 human ensembl 69_37n -1 known missense c.1433 p.R478Q 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB3 HGNC ENSG00000160219 75 0 0.00 41 21 33.87 - - - GABBR1 0 genome.wustl.edu 37 6 29589569 29589569 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 6 29589569 29589569 C T SNP GABBR1 ENST00000377034 human ensembl 69_37n -1 known missense c.1091 p.G364E 1.000 pfam_ANF_lig-bd_rcpt,prints_GPCR_3_GABA_rcpt_B pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,pfscan_Sushi_SCR_CCP,pfscan_GPCR_3_C - no_errors GABBR1 HGNC ENSG00000204681 44 0 0.00 19 8 29.63 - - - GABRA5 0 genome.wustl.edu 37 15 27185157 27185157 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 15 27185157 27185157 G A SNP GABRA5 ENST00000335625 human ensembl 69_37n +1 known missense c.810 p.M270I 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA5 HGNC ENSG00000186297 74 0 0.00 82 48 36.92 - - - GAMT 0 genome.wustl.edu 37 19 1398963 1398963 + Missense_Mutation SNP C C A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 1398963 1398963 C A SNP GAMT ENST00000447102 human ensembl 69_37n -1 known missense c.522 p.W174C 1.000 NULL NULL - no_errors GAMT HGNC ENSG00000130005 47 0 0.00 27 7 20.59 - - - GDA 0 genome.wustl.edu 37 9 74817626 74817626 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 9 74817626 74817626 G A SNP GDA ENST00000238018 human ensembl 69_37n +1 known missense c.352 p.D118N 0.924 pfam_Amidohydro_1,tigrfam_Guanine_deaminase pfam_Amidohydro_1,tigrfam_Guanine_deaminase - no_errors GDA HGNC ENSG00000119125 109 0 0.00 57 34 37.36 - - - GIMAP7 0 genome.wustl.edu 37 7 150217320 150217320 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 150217320 150217320 C T SNP GIMAP7 ENST00000313543 human ensembl 69_37n +1 known silent c.258 p.I86 0.000 pfam_AIG1 pfam_AIG1 - no_errors GIMAP7 HGNC ENSG00000179144 55 0 0.00 34 12 26.09 - - - GJD4 0 genome.wustl.edu 37 10 35896648 35896648 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 10 35896648 35896648 C G SNP GJD4 ENST00000321660 human ensembl 69_37n +1 known missense c.207 p.F69L 1.000 pfam_Connexin_N,smart_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJD4 HGNC ENSG00000177291 33 0 0.00 47 21 30.88 - - - GLA 0 genome.wustl.edu 37 X 100655659 100655659 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 X 100655659 100655659 G C SNP GLA ENST00000218516 human ensembl 69_37n -1 known missense c.634 p.Q212E 0.000 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors GLA HGNC ENSG00000102393 86 0 0.00 67 23 25.56 - - - GPR113 0 genome.wustl.edu 37 2 26538505 26538505 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 26538505 26538505 C T SNP GPR113 ENST00000311519 human ensembl 69_37n -1 putative silent c.807 p.L269 0.983 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR113 HGNC ENSG00000173567 39 0 0.00 23 17 42.50 - - - GPR116 0 genome.wustl.edu 37 6 46828604 46828604 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 6 46828604 46828604 C T SNP GPR116 ENST00000265417 human ensembl 69_37n -1 known missense c.2227 p.E743K 0.239 NULL pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 95 0 0.00 42 23 35.38 - - - GPRASP2 0 genome.wustl.edu 37 X 101972129 101972129 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 X 101972129 101972129 C G SNP GPRASP2 ENST00000332262 human ensembl 69_37n +1 known missense c.2332 p.Q778E 0.996 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 65 0 0.00 24 8 24.24 - - - GPT 0 genome.wustl.edu 37 8 145730399 145730399 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 8 145730399 145730399 C G SNP GPT ENST00000394955 human ensembl 69_37n +1 known missense c.380 p.S127C 0.998 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_ACC_synthase - no_errors GPT HGNC ENSG00000167701 37 0 0.00 23 8 25.81 - - - GRB7 0 genome.wustl.edu 37 17 37898674 37898674 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 17 37898674 37898674 G C SNP GRB7 ENST00000445327 human ensembl 69_37n +1 known missense c.189 p.K63N 1.000 NULL pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB7 HGNC ENSG00000141738 28 0 0.00 10 16 61.54 - - - GREB1L 0 genome.wustl.edu 37 18 19029635 19029635 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 18 19029635 19029635 G C SNP GREB1L ENST00000424526 human ensembl 69_37n +1 known missense c.1558 p.D520H 1.000 NULL NULL - no_errors GREB1L HGNC ENSG00000141449 109 0 0.00 71 25 26.04 - - - GRINA 0 genome.wustl.edu 37 8 145066883 145066883 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 8 145066883 145066883 G A SNP GRINA ENST00000534791 human ensembl 69_37n +1 putative missense c.926 p.C309Y 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon GRINA HGNC ENSG00000178719 59 0 0.00 42 14 25.00 - - - GRM2 0 genome.wustl.edu 37 3 51747097 51747097 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 51747097 51747097 C G SNP GRM2 ENST00000395052 human ensembl 69_37n +1 known missense c.1059 p.F353L 0.688 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B - no_errors GRM2 HGNC ENSG00000164082 24 0 0.00 10 4 28.57 - - - GRXCR1 0 genome.wustl.edu 37 4 42895457 42895457 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 4 42895457 42895457 C T SNP GRXCR1 ENST00000399770 human ensembl 69_37n +1 known silent c.174 p.S58 0.953 NULL pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 79 0 0.00 78 21 21.21 - - - GXYLT2 0 genome.wustl.edu 37 3 73004303 73004303 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 73004303 73004303 C T SNP GXYLT2 ENST00000389617 human ensembl 69_37n +1 known silent c.655 p.L219 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GXYLT2 HGNC ENSG00000172986 66 0 0.00 32 19 37.25 - - - HAO1 0 genome.wustl.edu 37 20 7866374 7866374 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 20 7866374 7866374 G C SNP HAO1 ENST00000378789 human ensembl 69_37n -1 known missense c.951 p.I317M 0.995 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO1 HGNC ENSG00000101323 69 0 0.00 61 17 21.79 - - - HARS 0 genome.wustl.edu 37 5 140070834 140070834 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 140070834 140070834 C T SNP HARS ENST00000504156 human ensembl 69_37n -1 known missense c.56 p.R19Q 1.000 pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pirsf_His-tRNA_synth_IIA,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,tigrfam_His-tRNA-synth_IIa_subgr - no_errors HARS HGNC ENSG00000170445 24 0 0.00 21 7 25.00 - - - HECW2 0 genome.wustl.edu 37 2 197183447 197183447 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 197183447 197183447 C T SNP HECW2 ENST00000260983 human ensembl 69_37n -1 known missense c.2167 p.E723K 0.877 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW2 HGNC ENSG00000138411 22 0 0.00 10 10 50.00 - - - HERC1 0 genome.wustl.edu 37 15 63947976 63947976 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 15 63947976 63947976 C G SNP HERC1 ENST00000443617 human ensembl 69_37n -1 known missense c.10049 p.R3350T 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 144 0 0.00 104 37 26.24 - - - HERC2 0 genome.wustl.edu 37 15 28369301 28369301 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 15 28369301 28369301 G C SNP HERC2 ENST00000261609 human ensembl 69_37n -1 known missense c.13070 p.S4357C 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 ENSG00000128731 70 0 0.00 22 16 42.11 - - - HERC2 0 genome.wustl.edu 37 15 28391398 28391398 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 15 28391398 28391398 C T SNP HERC2 ENST00000261609 human ensembl 69_37n -1 known missense c.10993 p.V3665I 1.000 superfamily_CUB 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 ENSG00000128731 47 0 0.00 50 13 20.63 - - - HERC6 0 genome.wustl.edu 37 4 89334350 89334350 + Nonsense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 4 89334350 89334350 G A SNP HERC6 ENST00000264346 human ensembl 69_37n +1 known nonsense c.1490 p.W497* 0.196 NULL 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 ENSG00000138642 113 0 0.00 62 30 32.61 - - - HIST1H2BB 0 genome.wustl.edu 37 6 26043570 26043570 + Nonsense_Mutation SNP C C A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 6 26043570 26043570 C A SNP HIST1H2BB ENST00000357905 human ensembl 69_37n -1 known nonsense c.316 p.E106* 1.000 superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST1H2BB HGNC ENSG00000196226 61 0 0.00 55 30 35.29 - - - HIST3H3 0 genome.wustl.edu 37 1 228612849 228612849 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 228612849 228612849 C T SNP HIST3H3 ENST00000366696 human ensembl 69_37n -1 known missense c.178 p.E60K 0.999 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST3H3 HGNC ENSG00000168148 52 0 0.00 91 32 26.02 - - - HMCN1 0 genome.wustl.edu 37 1 186057115 186057115 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 186057115 186057115 G A SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.9415 p.D3139N 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 129 0 0.00 177 25 12.38 - - - HP1BP3 0 genome.wustl.edu 37 1 21072124 21072124 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 21072124 21072124 C G SNP HP1BP3 ENST00000312239 human ensembl 69_37n -1 known missense c.1279 p.E427Q 1.000 NULL pfam_Histone_H1/H5,smart_Histone_H1/H5 - no_errors HP1BP3 HGNC ENSG00000127483 113 0 0.00 37 51 57.95 - - - ICAM1 0 genome.wustl.edu 37 19 10394426 10394426 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 10394426 10394426 G C SNP ICAM1 ENST00000264832 human ensembl 69_37n +1 known missense c.601 p.E201Q 0.001 prints_ICAM pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM1 HGNC ENSG00000090339 17 0 0.00 6 7 53.85 - - - ICOSLG 0 genome.wustl.edu 37 21 45656866 45656866 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 21 45656866 45656866 G A SNP ICOSLG ENST00000344330 human ensembl 69_37n -1 known missense c.290 p.S97F 0.985 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like - no_errors ICOSLG HGNC ENSG00000160223 67 0 0.00 70 26 27.08 - - - IGKV6D-21 0 genome.wustl.edu 37 2 90060741 90060741 + Nonsense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 90060741 90060741 C T SNP IGKV6D-21 ENST00000436451 human ensembl 69_37n +1 known nonsense c.88 p.Q30* 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV6D-21 HGNC ENSG00000225523 50 0 0.00 53 15 22.06 - - - IGLV5-45 0 genome.wustl.edu 37 22 22730813 22730813 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 22 22730813 22730813 C T SNP IGLV5-45 ENST00000390296 human ensembl 69_37n +1 known missense c.308 p.S103F 0.404 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGLV5-45 HGNC ENSG00000211650 104 0 0.00 79 24 23.30 - - - IL1RAP 0 genome.wustl.edu 37 3 190366258 190366258 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 190366258 190366258 C T SNP IL1RAP ENST00000072516 human ensembl 69_37n +1 known missense c.1477 p.R493W 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom,prints_IL1_rcpt_1 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 ENSG00000196083 54 0 0.00 44 15 25.42 - - - ITFG3 0 genome.wustl.edu 37 16 309544 309544 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 16 309544 309544 C G SNP ITFG3 ENST00000301678 human ensembl 69_37n +1 known missense c.331 p.L111V 1.000 superfamily_Quinonprotein_ADH-like superfamily_Quinonprotein_ADH-like - no_errors ITFG3 HGNC ENSG00000167930 124 0 0.00 125 32 20.38 - - - IVNS1ABP 0 genome.wustl.edu 37 1 185276197 185276197 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 185276197 185276197 C T SNP IVNS1ABP ENST00000367498 human ensembl 69_37n -1 known silent c.606 p.V202 0.998 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_Kelch_2,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors IVNS1ABP HGNC ENSG00000116679 104 0 0.00 147 31 17.42 - - - KAZN 0 genome.wustl.edu 37 1 15439019 15439019 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 15439019 15439019 C T SNP KAZN ENST00000376030 human ensembl 69_37n +1 known silent c.2145 p.L715 0.479 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors KAZN HGNC ENSG00000189337 42 0 0.00 18 30 62.50 - - - KEAP1 0 genome.wustl.edu 37 19 10600510 10600510 + Nonsense_Mutation SNP C C A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 10600510 10600510 C A SNP KEAP1 ENST00000171111 human ensembl 69_37n -1 known nonsense c.1345 p.E449* 0.990 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 KEAP1 HGNC ENSG00000079999 34 0 0.00 29 5 14.71 - - - KIAA0586 0 genome.wustl.edu 37 14 58895061 58895061 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 14 58895061 58895061 C G SNP KIAA0586 ENST00000556134 human ensembl 69_37n +1 known missense c.34 p.Q12E 0.985 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 122 0 0.00 98 44 30.99 - - - KIAA0913 0 genome.wustl.edu 37 10 75559813 75559813 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 10 75559813 75559813 G A SNP KIAA0913 ENST00000398706 human ensembl 69_37n +1 known silent c.4710 p.V1570 1.000 NULL pfscan_Znf_SWIM - no_errors KIAA0913 HGNC ENSG00000214655 90 0 0.00 67 33 33.00 - - - KIAA1468 0 genome.wustl.edu 37 18 59895760 59895760 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 18 59895760 59895760 G A SNP KIAA1468 ENST00000256858 human ensembl 69_37n +1 known silent c.1377 p.R459 0.339 NULL pfam_HEAT,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_HEAT_type_2,pfscan_LisH_dimerisation - no_errors KIAA1468 HGNC ENSG00000134444 95 0 0.00 37 16 30.19 - - - KLHL7 0 genome.wustl.edu 37 7 23180527 23180527 + Silent SNP C C A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 23180527 23180527 C A SNP KLHL7 ENST00000339077 human ensembl 69_37n +1 known silent c.582 p.L194 1.000 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 KLHL7 HGNC ENSG00000122550 81 0 0.00 38 17 30.91 - - - KLK14 0 genome.wustl.edu 37 19 51581409 51581409 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 51581409 51581409 G C SNP KLK14 ENST00000156499 human ensembl 69_37n -1 known missense c.659 p.S220C 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK14 HGNC ENSG00000129437 30 0 0.00 9 8 47.06 - - - KRT19 0 genome.wustl.edu 37 17 39684181 39684181 + Nonsense_Mutation SNP C C A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 17 39684181 39684181 C A SNP KRT19 ENST00000361566 human ensembl 69_37n -1 known nonsense c.319 p.E107* 0.958 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT19 HGNC ENSG00000171345 37 0 0.00 53 18 25.35 - - - KRTAP10-9 0 genome.wustl.edu 37 21 46047160 46047160 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 21 46047160 46047160 G C SNP KRTAP10-9 ENST00000397911 human ensembl 69_37n +1 known missense c.72 p.E24D 1.000 NULL NULL - no_errors KRTAP10-9 HGNC ENSG00000221837 74 0 0.00 26 11 29.73 - - - KRTAP9-2 0 genome.wustl.edu 37 17 39383235 39383235 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 17 39383235 39383235 C G SNP KRTAP9-2 ENST00000377721 human ensembl 69_37n +1 known missense c.329 p.S110C 0.403 NULL NULL - no_errors KRTAP9-2 HGNC ENSG00000239886 108 0 0.00 132 113 45.93 - - - L3MBTL4 0 genome.wustl.edu 37 18 5969468 5969468 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 18 5969468 5969468 C T SNP L3MBTL4 ENST00000284898 human ensembl 69_37n -1 known missense c.1565 p.R522K 0.992 NULL pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 17 0 0.00 15 8 34.78 - - - LAMP2 0 genome.wustl.edu 37 X 119589289 119589289 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 X 119589289 119589289 G A SNP LAMP2 ENST00000434600 human ensembl 69_37n -1 known missense c.320 p.S107F 0.036 NULL pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP2 HGNC ENSG00000005893 148 0 0.00 88 47 34.56 - - - LDOC1L 0 genome.wustl.edu 37 22 44892894 44892894 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 22 44892894 44892894 G A SNP LDOC1L ENST00000341255 human ensembl 69_37n -1 known silent c.543 p.L181 0.000 NULL NULL - no_errors LDOC1L HGNC ENSG00000188636 32 0 0.00 15 8 34.78 - - - LIN54 0 genome.wustl.edu 37 4 83905683 83905683 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 4 83905683 83905683 C G SNP LIN54 ENST00000340417 human ensembl 69_37n -1 known missense c.315 p.Q105H 1.000 NULL pfam_TCR - no_errors LIN54 HGNC ENSG00000189308 199 0 0.00 173 83 32.30 - - - LMBRD1 0 genome.wustl.edu 37 6 70462186 70462186 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 6 70462186 70462186 C T SNP LMBRD1 ENST00000370577 human ensembl 69_37n -1 known missense c.370 p.E124K 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot - no_errors LMBRD1 HGNC ENSG00000168216 83 0 0.00 18 15 45.45 - - - LPHN3 0 genome.wustl.edu 37 4 62897274 62897274 + Nonsense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 4 62897274 62897274 C T SNP LPHN3 ENST00000502815 human ensembl 69_37n +1 known nonsense c.1678 p.Q560* 1.000 pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_latrophilin_rcpt_C,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,prints_GPCR_2_secretin-like,prints_GPCR_2_latrophilin,pfscan_GPS_dom,pfscan_GPCR_2-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LPHN3 HGNC ENSG00000150471 132 0 0.00 72 29 28.71 - - - LRP5 0 genome.wustl.edu 37 11 68181258 68181258 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 68181258 68181258 G A SNP LRP5 ENST00000294304 human ensembl 69_37n +1 known missense c.2605 p.E869K 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt 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_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 28 0 0.00 32 7 17.95 - - - LRRC4 0 genome.wustl.edu 37 7 127670274 127670274 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 127670274 127670274 G A SNP LRRC4 ENST00000249363 human ensembl 69_37n -1 known silent c.420 p.S140 0.995 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LRRC4 HGNC ENSG00000128594 70 0 0.00 49 8 14.04 - - - LRRK1 0 genome.wustl.edu 37 15 101595248 101595248 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 15 101595248 101595248 C T SNP LRRK1 ENST00000526457 human ensembl 69_37n +1 known missense c.182 p.S61F 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,prints_Ser-Thr/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,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LRRK1 HGNC ENSG00000154237 89 0 0.00 67 35 34.31 - - - LRRK2 0 genome.wustl.edu 37 12 40681261 40681261 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 12 40681261 40681261 C G SNP LRRK2 ENST00000298910 human ensembl 69_37n +1 known missense c.2609 p.S870C 0.061 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 121 0 0.00 83 38 31.40 - - - LRRN3 0 genome.wustl.edu 37 7 110763804 110763804 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 110763804 110763804 C G SNP LRRN3 ENST00000308478 human ensembl 69_37n +1 known missense c.976 p.H326D 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRRN3 HGNC ENSG00000173114 73 0 0.00 57 20 25.97 - - - LY86 0 genome.wustl.edu 37 6 6654780 6654780 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 6 6654780 6654780 G A SNP LY86 ENST00000230568 human ensembl 69_37n +1 known missense c.409 p.E137K 1.000 pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog pfam_MD-2_lipid-recog,superfamily_Ig_E-set,smart_MD-2_lipid-recog - no_errors LY86 HGNC ENSG00000112799 68 0 0.00 46 39 45.88 - - - MAB21L1 0 genome.wustl.edu 37 13 36050059 36050059 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 13 36050059 36050059 C T SNP MAB21L1 ENST00000379919 human ensembl 69_37n -1 known missense c.217 p.E73K 1.000 pfam_Mab-21_dom pfam_Mab-21_dom - no_errors MAB21L1 HGNC ENSG00000180660 45 0 0.00 27 18 40.00 - - - MAGEB1 0 genome.wustl.edu 37 X 30269445 30269445 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 X 30269445 30269445 G A SNP MAGEB1 ENST00000378981 human ensembl 69_37n +1 known missense c.835 p.E279K 0.129 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 122 0 0.00 108 44 28.95 - - - MAGEC3 0 genome.wustl.edu 37 X 140953296 140953296 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 X 140953296 140953296 C T SNP MAGEC3 ENST00000298296 human ensembl 69_37n +1 known missense c.163 p.H55Y 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 134 0 0.00 65 31 32.29 - - - MAGI2 0 genome.wustl.edu 37 7 79082424 79082424 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 79082424 79082424 C T SNP MAGI2 ENST00000354212 human ensembl 69_37n -1 known silent c.213 p.E71 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI2 HGNC ENSG00000187391 16 0 0.00 8 9 52.94 - - - MAP3K13 0 genome.wustl.edu 37 3 185198077 185198077 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 185198077 185198077 C G SNP MAP3K13 ENST00000265026 human ensembl 69_37n +1 known missense c.2559 p.F853L 1.000 pirsf_MAP3K12_MAP3K13 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K13 HGNC ENSG00000073803 27 0 0.00 31 20 39.22 - - - MAP4 0 genome.wustl.edu 37 3 47957724 47957724 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 47957724 47957724 G A SNP MAP4 ENST00000360240 human ensembl 69_37n -1 known silent c.1593 p.I531 0.038 NULL pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 113 0 0.00 76 23 23.23 - - - MAP4K4 0 genome.wustl.edu 37 2 102456320 102456320 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 102456320 102456320 G A SNP MAP4K4 ENST00000421882 human ensembl 69_37n +1 novel missense c.31 p.E11K 1.000 superfamily_Kinase-like_dom pfam_Citron,superfamily_Kinase-like_dom,smart_Citron - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MAP4K4 HGNC ENSG00000071054 120 0 0.00 66 30 31.25 - - - MAP4K4 0 genome.wustl.edu 37 2 102456440 102456440 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 102456440 102456440 G A SNP MAP4K4 ENST00000421882 human ensembl 69_37n +1 novel missense c.151 p.E51K 1.000 superfamily_Kinase-like_dom pfam_Citron,superfamily_Kinase-like_dom,smart_Citron - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MAP4K4 HGNC ENSG00000071054 68 0 0.00 27 11 28.95 - - - MBOAT7 0 genome.wustl.edu 37 19 54677852 54677852 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 54677852 54677852 G A SNP MBOAT7 ENST00000245615 human ensembl 69_37n -1 known silent c.1305 p.F435 0.011 NULL pfam_MBOAT_fam - no_errors MBOAT7 HGNC ENSG00000125505 36 0 0.00 22 5 18.52 - - - MBP 0 genome.wustl.edu 37 18 74696844 74696844 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 18 74696844 74696844 C T SNP MBP ENST00000355994 human ensembl 69_37n -1 known missense c.757 p.E253K 1.000 pfam_Myelin_BP pfam_Myelin_BP,prints_Myelin_BP - no_errors MBP HGNC ENSG00000197971 41 0 0.00 34 14 29.17 - - - MCF2L 0 genome.wustl.edu 37 13 113748898 113748898 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 13 113748898 113748898 G C SNP MCF2L ENST00000375604 human ensembl 69_37n +1 known missense c.3195 p.Q1065H 0.000 NULL pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors MCF2L HGNC ENSG00000126217 47 0 0.00 15 7 31.82 - - - MED26 0 genome.wustl.edu 37 19 16687047 16687047 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 16687047 16687047 C G SNP MED26 ENST00000263390 human ensembl 69_37n -1 known missense c.1594 p.V532L 0.856 NULL pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub - no_errors MED26 HGNC ENSG00000105085 33 0 0.00 5 4 44.44 - - - MEP1A 0 genome.wustl.edu 37 6 46766377 46766377 + Silent SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 6 46766377 46766377 C G SNP MEP1A ENST00000230588 human ensembl 69_37n +1 known silent c.180 p.L60 0.325 pirsf_Pept_M12A_Meprin pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EGF-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 79 0 0.00 29 11 27.50 - - - MET 0 genome.wustl.edu 37 7 116371761 116371761 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 116371761 116371761 G A SNP MET ENST00000318493 human ensembl 69_37n +1 known missense c.1240 p.D414N 0.998 pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semaphorin/CD100_Ag,pfscan_Prot_kinase_cat_dom - no_errors MET HGNC ENSG00000105976 89 0 0.00 60 24 28.57 - - - MFSD6 0 genome.wustl.edu 37 2 191354510 191354510 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 191354510 191354510 C T SNP MFSD6 ENST00000434582 human ensembl 69_37n +1 novel missense c.415 p.P139S 1.000 pfam_MFS,pfam_MFS_enterobactin_exp_EntS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,pfam_MFS_enterobactin_exp_EntS,superfamily_MFS_dom_general_subst_transpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MFSD6 HGNC ENSG00000151690 133 0 0.00 93 51 35.42 - - - MGA 0 genome.wustl.edu 37 15 42041852 42041852 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 15 42041852 42041852 C T SNP MGA ENST00000219905 human ensembl 69_37n +1 known missense c.6047 p.T2016I 0.245 NULL pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box - no_errors MGA HGNC ENSG00000174197 67 0 0.00 38 13 25.49 - - - MGAT4B 0 genome.wustl.edu 37 5 179225428 179225428 + Nonsense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 179225428 179225428 G A SNP MGAT4B ENST00000337755 human ensembl 69_37n -1 known nonsense c.1474 p.Q492* 1.000 NULL pfam_Glyco_transf_54 - no_errors MGAT4B HGNC ENSG00000161013 18 0 0.00 8 8 50.00 - - - MICALCL 0 genome.wustl.edu 37 11 12315771 12315771 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 12315771 12315771 C T SNP MICALCL ENST00000256186 human ensembl 69_37n +1 known missense c.793 p.P265S 0.054 NULL pfam_DUF3585,smart_Fertility_inhib_FinO/ProQ - no_errors MICALCL HGNC ENSG00000133808 19 0 0.00 10 5 33.33 - - - MID1 0 genome.wustl.edu 37 X 10442697 10442697 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 X 10442697 10442697 C T SNP MID1 ENST00000317552 human ensembl 69_37n -1 known silent c.1107 p.E369 1.000 superfamily_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID1 HGNC ENSG00000101871 140 1 0.71 99 44 30.77 - - - MIR1296 0 genome.wustl.edu 37 10 65132739 65132739 + RNA SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 10 65132739 65132739 G A SNP MIR1296 ENST00000408136 human ensembl 69_37n -1 known rna NULL NULL 0.231 - - - no_errors MIR1296 HGNC ENSG00000221063 64 0 0.00 18 6 25.00 - - - MKI67 0 genome.wustl.edu 37 10 129901071 129901071 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 10 129901071 129901071 C T SNP MKI67 ENST00000368654 human ensembl 69_37n -1 known silent c.9033 p.R3011 0.000 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 57 0 0.00 51 39 43.33 - - - MLL3 0 genome.wustl.edu 37 7 152027786 152027786 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 152027786 152027786 C G SNP MLL3 ENST00000355193 human ensembl 69_37n -1 known missense c.289 p.E97Q 0.966 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 169 0 0.00 128 69 35.03 - - - MOS 0 genome.wustl.edu 37 8 57026109 57026109 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 8 57026109 57026109 C G SNP MOS ENST00000311923 human ensembl 69_37n -1 known missense c.433 p.V145L 0.000 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 MOS HGNC ENSG00000172680 25 0 0.00 15 10 40.00 - - - MRPL11 0 genome.wustl.edu 37 11 66203553 66203553 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 66203553 66203553 C T SNP MRPL11 ENST00000310999 human ensembl 69_37n -1 known silent c.504 p.Q168 1.000 NULL pfam_Ribosomal_L11_N,pfam_Ribosomal_L11_C,superfamily_Ribosomal_L11_N,superfamily_Ribosomal_L11_C,smart_Ribosomal_L11,tigrfam_Ribosomal_L11_bac-typ - no_errors MRPL11 HGNC ENSG00000174547 61 0 0.00 38 15 28.30 - - - MUC16 0 genome.wustl.edu 37 19 9057612 9057612 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 9057612 9057612 G A SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.29834 p.S9945L 0.001 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 88 0 0.00 94 27 22.31 - - - MUC16 0 genome.wustl.edu 37 19 9087590 9087590 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 9087590 9087590 C G SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.4225 p.E1409Q 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 125 0 0.00 117 39 25.00 - - - MUM1 0 genome.wustl.edu 37 19 1367172 1367172 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 1367172 1367172 C T SNP MUM1 ENST00000344663 human ensembl 69_37n +1 known missense c.1378 p.L460F 0.925 NULL pfam_PWWP - no_errors MUM1 HGNC ENSG00000160953 208 0 0.00 187 89 32.25 - - - MUT 0 genome.wustl.edu 37 6 49399509 49399509 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 6 49399509 49399509 G A SNP MUT ENST00000274813 human ensembl 69_37n -1 known missense c.2185 p.P729S 1.000 superfamily_Cobalamin-bd,tigrfam_Acid_CoA_mut_C pfam_MeMalonylCoA_mutase_a/b_cat,pfam_Cobalamin-bd,superfamily_Cbl-dep_enz_cat,superfamily_Cobalamin-bd,tigrfam_MMCoA_mutase_a_cat,tigrfam_Acid_CoA_mut_C - no_errors MUT HGNC ENSG00000146085 83 0 0.00 40 15 27.27 - - - MYEF2 0 genome.wustl.edu 37 15 48443700 48443700 + Nonsense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 15 48443700 48443700 G A SNP MYEF2 ENST00000324324 human ensembl 69_37n -1 known nonsense c.1276 p.Q426* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MYEF2 HGNC ENSG00000104177 127 0 0.00 112 36 24.32 - - - MYH6 0 genome.wustl.edu 37 14 23858138 23858138 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 14 23858138 23858138 C T SNP MYH6 ENST00000356287 human ensembl 69_37n -1 known missense c.4105 p.E1369K 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 36 0 0.00 47 33 41.25 - - - MYH6 0 genome.wustl.edu 37 14 23867983 23867983 + Silent SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 14 23867983 23867983 G C SNP MYH6 ENST00000356287 human ensembl 69_37n -1 known silent c.1845 p.L615 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 MYH6 HGNC ENSG00000197616 102 0 0.00 105 48 31.37 - - - MYH9 0 genome.wustl.edu 37 22 36708234 36708234 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 22 36708234 36708234 C T SNP MYH9 ENST00000216181 human ensembl 69_37n -1 known missense c.1588 p.E530K 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH9 HGNC ENSG00000100345 56 0 0.00 25 8 24.24 - - - MYOC 0 genome.wustl.edu 37 1 171621262 171621262 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 171621262 171621262 C T SNP MYOC ENST00000037502 human ensembl 69_37n -1 known missense c.490 p.E164K 0.013 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors MYOC HGNC ENSG00000034971 76 0 0.00 118 61 34.08 - - - NBPF10 0 genome.wustl.edu 37 1 145368577 145368577 + Nonsense_Mutation SNP G G T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 145368577 145368577 G T SNP NBPF10 ENST00000342960 human ensembl 69_37n +1 known nonsense c.10555 p.E3519* 0.007 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 385 0 0.00 1144 175 13.26 - - - NCAPD3 0 genome.wustl.edu 37 11 134029897 134029897 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 134029897 134029897 C G SNP NCAPD3 ENST00000534548 human ensembl 69_37n -1 known missense c.3757 p.E1253Q 1.000 pirsf_Condns_HCP-6 superfamily_ARM-type_fold,pirsf_Condns_HCP-6 - no_errors NCAPD3 HGNC ENSG00000151503 84 0 0.00 51 39 43.33 - - - NCOR1 0 genome.wustl.edu 37 17 16062146 16062146 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 17 16062146 16062146 C T SNP NCOR1 ENST00000268712 human ensembl 69_37n -1 known silent c.660 p.E220 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR1 HGNC ENSG00000141027 58 0 0.00 26 28 51.85 - - - NDST3 0 genome.wustl.edu 37 4 118975584 118975584 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 4 118975584 118975584 G C SNP NDST3 ENST00000296499 human ensembl 69_37n +1 known missense c.519 p.Q173H 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom - no_errors NDST3 HGNC ENSG00000164100 42 0 0.00 20 5 20.00 - - - NFIL3 0 genome.wustl.edu 37 9 94172741 94172741 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 9 94172741 94172741 C G SNP NFIL3 ENST00000297689 human ensembl 69_37n -1 known missense c.276 p.E92D 1.000 pfam_bZIP_2,pfam_bZIP_1,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP pfam_Vert_IL3-reg_TF,pfam_bZIP_2,pfam_bZIP_1,smart_bZIP,pirsf_TF_bZIP_E4BP4,pfscan_bZIP - no_errors NFIL3 HGNC ENSG00000165030 130 0 0.00 75 43 36.44 - - - NLRP2 0 genome.wustl.edu 37 19 55502000 55502000 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 55502000 55502000 G C SNP NLRP2 ENST00000448584 human ensembl 69_37n +1 known missense c.2668 p.E890Q 0.790 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP2 HGNC ENSG00000022556 169 0 0.00 129 45 25.86 - - - NOMO1 0 genome.wustl.edu 37 16 14966096 14966096 + Nonsense_Mutation SNP C C A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 16 14966096 14966096 C A SNP NOMO1 ENST00000287667 human ensembl 69_37n +1 known nonsense c.1964 p.S655* 1.000 NULL pfam_DUF2012,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,superfamily_Collagen-bd_Cna_B-typ_dom - no_errors NOMO1 HGNC ENSG00000103512 68 0 0.00 31 15 32.61 - - - NONO 0 genome.wustl.edu 37 X 70517738 70517738 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 X 70517738 70517738 G A SNP NONO ENST00000276079 human ensembl 69_37n +1 known missense c.1081 p.E361K 1.000 NULL pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors NONO HGNC ENSG00000147140 26 0 0.00 12 9 42.86 - - - NPAS4 0 genome.wustl.edu 37 11 66188755 66188755 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 66188755 66188755 C T SNP NPAS4 ENST00000311034 human ensembl 69_37n +1 known silent c.105 p.V35 1.000 NULL pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 32 0 0.00 22 9 29.03 - - - NPAS4 0 genome.wustl.edu 37 11 66192503 66192503 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 66192503 66192503 C T SNP NPAS4 ENST00000311034 human ensembl 69_37n +1 known silent c.2142 p.F714 1.000 NULL pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 46 0 0.00 23 11 32.35 - - - NPHP4 0 genome.wustl.edu 37 1 5925232 5925232 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 5925232 5925232 G C SNP NPHP4 ENST00000378156 human ensembl 69_37n -1 known missense c.3746 p.S1249C 1.000 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 25 0 0.00 4 13 76.47 - - - NR1H3 0 genome.wustl.edu 37 11 47289528 47289528 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 47289528 47289528 C T SNP NR1H3 ENST00000441012 human ensembl 69_37n +1 known silent c.1053 p.L351 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_ThyrH_rcpt,prints_Ecdystd_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Ecdystd_rcpt - no_errors NR1H3 HGNC ENSG00000025434 103 0 0.00 72 36 33.33 - - - NR5A2 0 genome.wustl.edu 37 1 200017590 200017590 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 200017590 200017590 C T SNP NR5A2 ENST00000367362 human ensembl 69_37n +1 known missense c.754 p.H252Y 0.997 superfamily_Nucl_hormone_rcpt_ligand-bd,pirsf_Steroidogenic_factor_1 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,pirsf_Steroidogenic_factor_1,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR5A2 HGNC ENSG00000116833 66 0 0.00 131 39 22.94 - - - NUP107 0 genome.wustl.edu 37 12 69094517 69094517 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 12 69094517 69094517 G A SNP NUP107 ENST00000229179 human ensembl 69_37n +1 known silent c.564 p.L188 0.554 NULL pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 98 0 0.00 34 18 34.62 - - - NUPL1 0 genome.wustl.edu 37 13 25901082 25901082 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 13 25901082 25901082 G C SNP NUPL1 ENST00000381736 human ensembl 69_37n +1 known missense c.1060 p.E354Q 1.000 NULL NULL - no_errors NUPL1 HGNC ENSG00000139496 104 1 0.95 57 29 33.72 - - - ODZ2 0 genome.wustl.edu 37 5 167671524 167671524 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 167671524 167671524 G A SNP ODZ2 ENST00000518659 human ensembl 69_37n +1 known missense c.5620 p.D1874N 1.000 superfamily_ConA-like_lec_gl pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl,superfamily_Cytokine_IL1-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors ODZ2 HGNC ENSG00000145934 40 0 0.00 22 8 26.67 - - - OGDH 0 genome.wustl.edu 37 7 44734059 44734059 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 44734059 44734059 G A SNP OGDH ENST00000222673 human ensembl 69_37n +1 known missense c.1552 p.E518K 1.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDH HGNC ENSG00000105953 55 0 0.00 45 22 32.84 - - - OPALIN 0 genome.wustl.edu 37 10 98108050 98108050 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 10 98108050 98108050 G A SNP OPALIN ENST00000371172 human ensembl 69_37n -1 known missense c.245 p.S82F 0.971 NULL NULL - no_errors OPALIN HGNC ENSG00000197430 80 0 0.00 56 25 30.86 - - - OR10K2 0 genome.wustl.edu 37 1 158390018 158390018 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 158390018 158390018 C T SNP OR10K2 ENST00000314902 human ensembl 69_37n -1 known silent c.639 p.L213 0.660 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR10K2 HGNC ENSG00000180708 103 0 0.00 189 34 15.25 - - - OR2AK2 0 genome.wustl.edu 37 1 248129439 248129439 + Missense_Mutation SNP C C A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 248129439 248129439 C A SNP OR2AK2 ENST00000366480 human ensembl 69_37n +1 known missense c.806 p.T269N 0.007 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2AK2 HGNC ENSG00000187080 118 0 0.00 204 49 19.37 - - - OR2L8 0 genome.wustl.edu 37 1 248113011 248113011 + Silent SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 248113011 248113011 C G SNP OR2L8 ENST00000357191 human ensembl 69_37n +1 known silent c.852 p.L284 0.968 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2L8 HGNC ENSG00000196936 100 0 0.00 127 51 28.65 - - - OR2T2 0 genome.wustl.edu 37 1 248616623 248616623 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 248616623 248616623 C T SNP OR2T2 ENST00000342927 human ensembl 69_37n +1 known silent c.525 p.I175 0.353 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 44 0 0.00 58 9 13.43 - - - OR2W5 0 genome.wustl.edu 37 1 247655373 247655373 + RNA SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 247655373 247655373 C T SNP OR2W5 ENST00000522351 human ensembl 69_37n +1 known rna NULL NULL 0.019 - - - no_errors OR2W5 HGNC ENSG00000203664 20 0 0.00 14 4 22.22 - - - OR4C16 0 genome.wustl.edu 37 11 55340509 55340509 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 55340509 55340509 G C SNP OR4C16 ENST00000314634 human ensembl 69_37n +1 known missense c.906 p.K302N 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4C16 HGNC ENSG00000181935 42 0 0.00 36 15 29.41 - - - OR4D2 0 genome.wustl.edu 37 17 56247698 56247698 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 17 56247698 56247698 C T SNP OR4D2 ENST00000545221 human ensembl 69_37n +1 known missense c.682 p.H228Y 0.137 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4D2 HGNC ENSG00000255713 95 0 0.00 137 42 23.33 - - - OR52K2 0 genome.wustl.edu 37 11 4471264 4471264 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 4471264 4471264 C T SNP OR52K2 ENST00000325719 human ensembl 69_37n +1 known missense c.695 p.S232F 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR52K2 HGNC ENSG00000181963 178 0 0.00 200 88 30.56 - - - OR5F1 0 genome.wustl.edu 37 11 55761969 55761969 + Missense_Mutation SNP T T C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 55761969 55761969 T C SNP OR5F1 ENST00000278409 human ensembl 69_37n -1 known missense c.133 p.M45V 0.003 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5F1 HGNC ENSG00000149133 22 0 0.00 14 5 26.32 - - - OR5I1 0 genome.wustl.edu 37 11 55703532 55703532 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 55703532 55703532 G A SNP OR5I1 ENST00000301532 human ensembl 69_37n -1 known silent c.345 p.F115 0.031 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5I1 HGNC ENSG00000167825 37 0 0.00 20 11 35.48 - - - OR5T2 0 genome.wustl.edu 37 11 56000014 56000014 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 56000014 56000014 G A SNP OR5T2 ENST00000313264 human ensembl 69_37n -1 known silent c.648 p.V216 0.179 pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR5T2 HGNC ENSG00000181718 94 0 0.00 97 32 24.81 - - - OS9 0 genome.wustl.edu 37 12 58088532 58088532 + Splice_Site SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 12 58088532 58088532 G A SNP OS9 ENST00000315970 human ensembl 69_37n +1 known splice_site c.163-1 e2-1 1.000 - - - no_errors OS9 HGNC ENSG00000135506 37 0 0.00 21 10 32.26 - - - OXER1 0 genome.wustl.edu 37 2 42990854 42990854 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 42990854 42990854 C G SNP OXER1 ENST00000378661 human ensembl 69_37n -1 known missense c.466 p.E156Q 0.003 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors OXER1 HGNC ENSG00000162881 39 0 0.00 26 24 48.00 - - - PANK3 0 genome.wustl.edu 37 5 167984582 167984582 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 167984582 167984582 G A SNP PANK3 ENST00000239231 human ensembl 69_37n -1 known silent c.1107 p.F369 1.000 NULL pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK3 HGNC ENSG00000120137 98 0 0.00 67 22 24.72 - - - PAPPA 0 genome.wustl.edu 37 9 118950076 118950076 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 9 118950076 118950076 G A SNP PAPPA ENST00000328252 human ensembl 69_37n +1 known silent c.1059 p.V353 0.916 NULL pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 26 0 0.00 22 8 26.67 - - - PCDHGA2 0 genome.wustl.edu 37 5 140718650 140718650 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 140718650 140718650 G C SNP PCDHGA2 ENST00000394576 human ensembl 69_37n +1 known missense c.112 p.E38Q 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA2 HGNC ENSG00000081853 57 0 0.00 37 13 26.00 - - - PCDHGB7 0 genome.wustl.edu 37 5 140798462 140798462 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 140798462 140798462 G A SNP PCDHGB7 ENST00000398594 human ensembl 69_37n +1 known missense c.1036 p.E346K 0.988 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 61 0 0.00 44 23 34.33 - - - PCLO 0 genome.wustl.edu 37 7 82467571 82467571 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 82467571 82467571 C T SNP PCLO ENST00000333891 human ensembl 69_37n -1 known missense c.14185 p.D4729N 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting 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 ENSG00000186472 91 0 0.00 65 17 20.73 - - - PCNX 0 genome.wustl.edu 37 14 71540426 71540426 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 14 71540426 71540426 C T SNP PCNX ENST00000304743 human ensembl 69_37n +1 known silent c.5017 p.L1673 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 106 0 0.00 76 40 34.48 - - - PDE4B 0 genome.wustl.edu 37 1 66834514 66834514 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 66834514 66834514 C T SNP PDE4B ENST00000329654 human ensembl 69_37n +1 known silent c.1707 p.T569 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 66 0 0.00 23 23 50.00 - - - PDS5B 0 genome.wustl.edu 37 13 33281154 33281154 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 13 33281154 33281154 G A SNP PDS5B ENST00000315596 human ensembl 69_37n +1 known missense c.1940 p.R647K 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 92 0 0.00 45 11 19.64 - - - PENK 0 genome.wustl.edu 37 8 57354326 57354326 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 8 57354326 57354326 G A SNP PENK ENST00000314922 human ensembl 69_37n -1 known silent c.309 p.F103 1.000 prints_Opioid_neupept pfam_Opioid_neupept,prints_Proenkphlin_A,prints_Opioid_neupept - no_errors PENK HGNC ENSG00000181195 84 0 0.00 54 23 29.87 - - - PGM2 0 genome.wustl.edu 37 4 37841763 37841763 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 4 37841763 37841763 G C SNP PGM2 ENST00000381967 human ensembl 69_37n +1 known missense c.601 p.E201Q 1.000 superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM2 HGNC ENSG00000169299 47 0 0.00 48 19 28.36 - - - PIK3C2B 0 genome.wustl.edu 37 1 204412635 204412635 + Silent SNP C C A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 204412635 204412635 C A SNP PIK3C2B ENST00000367187 human ensembl 69_37n -1 known silent c.2958 p.L986 0.981 pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,smart_PInositide-3_kin_accessory_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2B HGNC ENSG00000133056 28 0 0.00 36 20 35.71 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 106 0 0.00 52 24 31.58 - - - PIK3CA 0 genome.wustl.edu 37 3 178938934 178938934 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 178938934 178938934 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.2176 p.E726K 1.000 superfamily_Kinase-like_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 87 0 0.00 43 20 31.75 - - - PIK3R1 0 genome.wustl.edu 37 5 67590481 67590481 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 67590481 67590481 G A SNP PIK3R1 ENST00000396611 human ensembl 69_37n +1 known missense c.1543 p.E515K 1.000 superfamily_Guanylate-bd_C,prints_PI3kinase_P85 pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 72 0 0.00 46 21 31.34 - - - PIP4K2B 0 genome.wustl.edu 37 17 36955585 36955585 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 17 36955585 36955585 C T SNP PIP4K2B ENST00000269554 human ensembl 69_37n -1 known silent c.93 p.Q31 1.000 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP4K2B HGNC ENSG00000141720 20 0 0.00 59 17 22.37 - - - PKP3 0 genome.wustl.edu 37 11 403681 403681 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 403681 403681 C T SNP PKP3 ENST00000331563 human ensembl 69_37n +1 known missense c.1987 p.R663C 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP3 HGNC ENSG00000184363 27 0 0.00 22 18 45.00 - - - PLEKHG7 0 genome.wustl.edu 37 12 93149662 93149662 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 12 93149662 93149662 G C SNP PLEKHG7 ENST00000344636 human ensembl 69_37n +1 known missense c.552 p.E184D 1.000 superfamily_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG7 HGNC ENSG00000187510 48 0 0.00 33 8 19.51 - - - PLOD1 0 genome.wustl.edu 37 1 12030796 12030796 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 12030796 12030796 G C SNP PLOD1 ENST00000376369 human ensembl 69_37n +1 known missense c.1966 p.E656Q 1.000 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD1 HGNC ENSG00000083444 52 0 0.00 27 37 57.81 - - - PLS3 0 genome.wustl.edu 37 X 114868384 114868384 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 X 114868384 114868384 C T SNP PLS3 ENST00000355899 human ensembl 69_37n +1 known silent c.573 p.F191 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_Ca-bd,smart_CH-domain,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors PLS3 HGNC ENSG00000102024 136 0 0.00 87 31 26.27 - - - PLXNA1 0 genome.wustl.edu 37 3 126751260 126751260 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 126751260 126751260 C G SNP PLXNA1 ENST00000393409 human ensembl 69_37n +1 known missense c.5262 p.I1754M 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 PLXNA1 HGNC ENSG00000114554 64 0 0.00 79 29 26.85 - - - PMS1 0 genome.wustl.edu 37 2 190660667 190660667 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 190660667 190660667 G A SNP PMS1 ENST00000441310 human ensembl 69_37n +1 known missense c.305 p.C102Y 0.992 pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_HMG_superfamily,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily,tigrfam_DNA_mismatch_repair_N - no_errors PMS1 HGNC ENSG00000064933 125 0 0.00 80 36 31.03 - - - PNLIPRP3 0 genome.wustl.edu 37 10 118196375 118196375 + Nonsense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 10 118196375 118196375 C T SNP PNLIPRP3 ENST00000369230 human ensembl 69_37n +1 known nonsense c.202 p.Q68* 0.835 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase_panc pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 90 0 0.00 71 20 21.98 - - - POLR1A 0 genome.wustl.edu 37 2 86272802 86272802 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 86272802 86272802 C T SNP POLR1A ENST00000263857 human ensembl 69_37n -1 known missense c.2824 p.E942K 0.996 pfam_RNA_pol_Rpb1_4 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 33 0 0.00 23 14 37.84 - - - PPM1A 0 genome.wustl.edu 37 14 60750229 60750229 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 14 60750229 60750229 G A SNP PPM1A ENST00000325642 human ensembl 69_37n +1 known missense c.1027 p.E343K 1.000 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,pfam_PP2C_C,superfamily_PP2C-like,superfamily_PP2C_C,smart_PP2C-like - no_errors PPM1A HGNC ENSG00000100614 68 0 0.00 37 20 35.09 - - - PREX2 0 genome.wustl.edu 37 8 69020348 69020348 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 8 69020348 69020348 C G SNP PREX2 ENST00000288368 human ensembl 69_37n +1 known missense c.2720 p.S907C 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 157 0 0.00 104 35 25.18 - - - PRKDC 0 genome.wustl.edu 37 8 48811083 48811083 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 8 48811083 48811083 G A SNP PRKDC ENST00000314191 human ensembl 69_37n -1 known silent c.3411 p.I1137 1.000 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 ENSG00000253729 84 0 0.00 75 36 32.43 - - - PTGIS 0 genome.wustl.edu 37 20 48164524 48164524 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 20 48164524 48164524 G A SNP PTGIS ENST00000244043 human ensembl 69_37n -1 known silent c.231 p.L77 0.998 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors PTGIS HGNC ENSG00000124212 30 0 0.00 48 11 18.64 - - - PTGS2 0 genome.wustl.edu 37 1 186648206 186648206 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 186648206 186648206 C T SNP PTGS2 ENST00000367468 human ensembl 69_37n -1 known missense c.297 p.M99I 1.000 superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal - no_errors PTGS2 HGNC ENSG00000073756 86 0 0.00 92 11 10.68 - - - PTPN14 0 genome.wustl.edu 37 1 214557650 214557650 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 214557650 214557650 C G SNP PTPN14 ENST00000366956 human ensembl 69_37n -1 known missense c.1548 p.Q516H 0.000 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 22 0 0.00 82 16 16.33 - - - PTPRM 0 genome.wustl.edu 37 18 8244068 8244068 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 18 8244068 8244068 G A SNP PTPRM ENST00000400060 human ensembl 69_37n +1 known silent c.2313 p.K771 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl,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 PTPRM HGNC ENSG00000173482 50 0 0.00 34 14 29.17 - - - RAI14 0 genome.wustl.edu 37 5 34813753 34813753 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 34813753 34813753 C G SNP RAI14 ENST00000515799 human ensembl 69_37n +1 known missense c.849 p.I283M 1.000 NULL pfam_Ankyrin_rpt,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC ENSG00000039560 155 0 0.00 111 31 21.83 - - - RANBP2 0 genome.wustl.edu 37 2 109389434 109389434 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 109389434 109389434 G A SNP RANBP2 ENST00000283195 human ensembl 69_37n +1 known missense c.8224 p.D2742N 1.000 pfam_IR1-M pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 123 0 0.00 55 32 36.78 - - - RAPGEF6 0 genome.wustl.edu 37 5 130846097 130846097 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 130846097 130846097 C T SNP RAPGEF6 ENST00000509018 human ensembl 69_37n -1 known missense c.715 p.E239K 1.000 NULL pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 109 0 0.00 63 28 30.77 - - - RASAL2 0 genome.wustl.edu 37 1 178410736 178410736 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 178410736 178410736 G C SNP RASAL2 ENST00000367649 human ensembl 69_37n +1 known missense c.881 p.R294T 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DUF3498,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PP1_inhibitor,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors RASAL2 HGNC ENSG00000075391 89 0 0.00 122 29 19.21 - - - RASD2 0 genome.wustl.edu 37 22 35943080 35943080 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 22 35943080 35943080 C T SNP RASD2 ENST00000216127 human ensembl 69_37n +1 known missense c.224 p.S75F 0.998 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,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 RASD2 HGNC ENSG00000100302 34 0 0.00 29 15 34.09 - - - RBBP8 0 genome.wustl.edu 37 18 20573141 20573141 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 18 20573141 20573141 G A SNP RBBP8 ENST00000327155 human ensembl 69_37n +1 known missense c.1351 p.E451K 0.996 NULL pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 69 0 0.00 20 11 35.48 - - - RBM24 0 genome.wustl.edu 37 6 17292010 17292010 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 6 17292010 17292010 C T SNP RBM24 ENST00000379052 human ensembl 69_37n +1 known missense c.371 p.P124L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM24 HGNC ENSG00000112183 36 0 0.00 19 14 42.42 - - - RBM34 0 genome.wustl.edu 37 1 235316075 235316075 + Silent SNP C C A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 235316075 235316075 C A SNP RBM34 ENST00000408888 human ensembl 69_37n -1 known silent c.603 p.L201 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM34 HGNC ENSG00000188739 46 0 0.00 58 10 14.71 - - - RCBTB1 0 genome.wustl.edu 37 13 50108389 50108389 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 13 50108389 50108389 C G SNP RCBTB1 ENST00000258646 human ensembl 69_37n -1 known missense c.1465 p.E489Q 1.000 superfamily_BTB/POZ_fold pfam_Reg_chr_condens,pfam_BTB_POZ,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_Reg_chr_condens,pfscan_BTB/POZ-like,pfscan_Reg_chr_condens - no_errors RCBTB1 HGNC ENSG00000136144 51 0 0.00 27 8 22.86 - - - RECQL5 0 genome.wustl.edu 37 17 73647280 73647280 + Missense_Mutation SNP G G T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 17 73647280 73647280 G T SNP RECQL5 ENST00000317905 human ensembl 69_37n -1 known missense c.1215 p.F405L 1.000 tigrfam_DNA_helicase_ATP-dep_RecQ pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 158 0 0.00 141 31 18.02 - - - RELB 0 genome.wustl.edu 37 19 45528975 45528975 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 45528975 45528975 C T SNP RELB ENST00000221452 human ensembl 69_37n +1 known missense c.866 p.S289F 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NF_Rel_dor pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors RELB HGNC ENSG00000104856 68 0 0.00 60 25 29.41 - - - REPS2 0 genome.wustl.edu 37 X 17047736 17047736 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 X 17047736 17047736 C T SNP REPS2 ENST00000357277 human ensembl 69_37n +1 known missense c.761 p.S254F 0.678 NULL smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology - no_errors REPS2 HGNC ENSG00000169891 73 0 0.00 33 17 34.00 - - - RFTN2 0 genome.wustl.edu 37 2 198498526 198498526 + Nonsense_Mutation SNP C C A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 198498526 198498526 C A SNP RFTN2 ENST00000295049 human ensembl 69_37n -1 known nonsense c.634 p.E212* 0.614 NULL NULL - no_errors RFTN2 HGNC ENSG00000162944 156 0 0.00 147 62 29.67 - - - RILPL1 0 genome.wustl.edu 37 12 123983136 123983136 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 12 123983136 123983136 C G SNP RILPL1 ENST00000376874 human ensembl 69_37n -1 known missense c.756 p.E252D 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,pfam_RILP - no_errors RILPL1 HGNC ENSG00000188026 45 0 0.00 30 16 34.78 - - - RNF115 0 genome.wustl.edu 37 1 145663210 145663210 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 145663210 145663210 C G SNP RNF115 ENST00000369291 human ensembl 69_37n +1 known missense c.271 p.L91V 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF115 HGNC ENSG00000121848 131 0 0.00 173 32 15.61 - - - RNF133 0 genome.wustl.edu 37 7 122338358 122338358 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 122338358 122338358 G A SNP RNF133 ENST00000340112 human ensembl 69_37n -1 known silent c.615 p.F205 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF133 HGNC ENSG00000188050 104 0 0.00 71 23 24.47 - - - RNF6 0 genome.wustl.edu 37 13 26788189 26788189 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 13 26788189 26788189 C T SNP RNF6 ENST00000346166 human ensembl 69_37n -1 known silent c.1830 p.Q610 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF6 HGNC ENSG00000127870 117 0 0.00 78 43 35.54 - - - ROBO1 0 genome.wustl.edu 37 3 79639053 79639053 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 79639053 79639053 C G SNP ROBO1 ENST00000464233 human ensembl 69_37n -1 known missense c.9 p.W3C 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_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ENSG00000169855 91 0 0.00 43 21 32.81 - - - ROBO2 0 genome.wustl.edu 37 3 77617518 77617518 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 77617518 77617518 G C SNP ROBO2 ENST00000461745 human ensembl 69_37n +1 known missense c.1904 p.G635A 0.999 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 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 ENSG00000185008 79 0 0.00 32 28 46.67 - - - ROPN1B 0 genome.wustl.edu 37 3 125696002 125696002 + Frame_Shift_Del DEL G G - TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 125696002 125696002 G - DEL ROPN1B ENST00000251776 human ensembl 69_37n +1 known frame_shift_del c.390 p.G131fs 0.990 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors ROPN1B HGNC ENSG00000114547 34 0 0.00 18 9 33.33 - - - RPH3A 0 genome.wustl.edu 37 12 113285625 113285625 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 12 113285625 113285625 G A SNP RPH3A ENST00000389385 human ensembl 69_37n +1 known missense c.208 p.E70K 1.000 pfam_Rabphilin3A_effector_Zn-bd,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel - no_errors RPH3A HGNC ENSG00000089169 47 0 0.00 33 17 34.00 - - - RPLP0P2 0 genome.wustl.edu 37 11 61404878 61404878 + RNA SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 61404878 61404878 G C SNP RPLP0P2 ENST00000496593 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors RPLP0P2 HGNC ENSG00000243742 35 0 0.00 38 19 33.33 - - - RTDR1 0 genome.wustl.edu 37 22 23401817 23401817 + Silent SNP C C A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 22 23401817 23401817 C A SNP RTDR1 ENST00000216036 human ensembl 69_37n -1 known silent c.870 p.L290 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Armadillo,superfamily_ARM-type_fold - no_errors RTDR1 HGNC ENSG00000100218 26 0 0.00 14 8 36.36 - - - RUFY3 0 genome.wustl.edu 37 4 71654529 71654529 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 4 71654529 71654529 G A SNP RUFY3 ENST00000417478 human ensembl 69_37n +1 known missense c.1258 p.E420K 1.000 NULL pfam_Run,superfamily_Prefoldin,smart_Run,pfscan_Run - no_errors RUFY3 HGNC ENSG00000018189 84 0 0.00 50 30 37.50 - - - RYR2 0 genome.wustl.edu 37 1 237664064 237664064 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 237664064 237664064 G A SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.2251 p.D751N 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 125 0 0.00 242 30 11.03 - - - SAG 0 genome.wustl.edu 37 2 234237145 234237145 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 234237145 234237145 C T SNP SAG ENST00000409110 human ensembl 69_37n +1 known silent c.534 p.I178 1.000 pfam_Arrestin-like_N,superfamily_Ig_E-set,prints_Arrestin pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set,prints_Arrestin - no_errors SAG HGNC ENSG00000130561 40 0 0.00 36 9 20.00 - - - SALL4 0 genome.wustl.edu 37 20 50407290 50407290 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 20 50407290 50407290 G C SNP SALL4 ENST00000217086 human ensembl 69_37n -1 known missense c.1732 p.Q578E 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 74 0 0.00 103 19 15.57 - - - SAMD9L 0 genome.wustl.edu 37 7 92764738 92764738 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 92764738 92764738 G C SNP SAMD9L ENST00000318238 human ensembl 69_37n -1 known missense c.547 p.L183V 0.291 NULL superfamily_SAM/pointed,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 179 0 0.00 138 67 32.68 - - - SCAPER 0 genome.wustl.edu 37 15 77067266 77067266 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 15 77067266 77067266 G A SNP SCAPER ENST00000324767 human ensembl 69_37n -1 known missense c.965 p.S322F 0.007 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 98 0 0.00 62 38 38.00 - - - SCN3B 0 genome.wustl.edu 37 11 123508916 123508916 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 123508916 123508916 C G SNP SCN3B ENST00000299333 human ensembl 69_37n -1 known missense c.562 p.E188Q 1.000 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like - no_errors SCN3B HGNC ENSG00000166257 82 0 0.00 36 28 43.75 - - - SCN7A 0 genome.wustl.edu 37 2 167273255 167273255 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 167273255 167273255 C T SNP SCN7A ENST00000409855 human ensembl 69_37n -1 known missense c.3376 p.D1126N 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 100 0 0.00 57 21 26.92 - - - SEMA3A 0 genome.wustl.edu 37 7 83675694 83675694 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 83675694 83675694 G A SNP SEMA3A ENST00000265362 human ensembl 69_37n -1 known missense c.613 p.L205F 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3A HGNC ENSG00000075213 136 0 0.00 94 36 27.48 - - - SERPINB11 0 genome.wustl.edu 37 18 61387387 61387387 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 18 61387387 61387387 G A SNP SERPINB11 ENST00000536691 human ensembl 69_37n +1 known missense c.91 p.E31K 0.918 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINB11 HGNC ENSG00000206072 67 0 0.00 21 18 46.15 - - - SETD2 0 genome.wustl.edu 37 3 47158173 47158173 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 47158173 47158173 C G SNP SETD2 ENST00000409792 human ensembl 69_37n -1 known missense c.4526 p.R1509T 1.000 smart_AWS,pfscan_AWS pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC ENSG00000181555 128 0 0.00 40 24 37.50 - - - SETX 0 genome.wustl.edu 37 9 135205472 135205472 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 9 135205472 135205472 C G SNP SETX ENST00000372169 human ensembl 69_37n -1 known missense c.1513 p.E505Q 1.000 NULL NULL - no_errors SETX HGNC ENSG00000107290 58 0 0.00 36 16 30.77 - - - SFSWAP 0 genome.wustl.edu 37 12 132237743 132237743 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 12 132237743 132237743 G A SNP SFSWAP ENST00000261674 human ensembl 69_37n +1 known missense c.1157 p.G386E 1.000 NULL pfam_SWAP_N_domain,pfam_Surp,superfamily_Surp,smart_Surp,pfscan_Surp - no_errors SFSWAP HGNC ENSG00000061936 34 0 0.00 25 10 28.57 - - - SGIP1 0 genome.wustl.edu 37 1 67155912 67155912 + Missense_Mutation SNP C C A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 67155912 67155912 C A SNP SGIP1 ENST00000237247 human ensembl 69_37n +1 known missense c.1576 p.P526T 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 135 0 0.00 43 60 58.25 - - - SHISA9 0 genome.wustl.edu 37 16 13002435 13002435 + Silent SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 16 13002435 13002435 C G SNP SHISA9 ENST00000558318 human ensembl 69_37n +1 known silent c.786 p.V262 0.000 NULL NULL - no_errors SHISA9 HGNC ENSG00000237515 54 0 0.00 45 24 34.78 - - - SIPA1L1 0 genome.wustl.edu 37 14 72139289 72139289 + Silent SNP C C A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 14 72139289 72139289 C A SNP SIPA1L1 ENST00000555818 human ensembl 69_37n +1 known silent c.3054 p.V1018 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L1 HGNC ENSG00000197555 52 0 0.00 31 22 41.51 - - - SLC44A4 0 genome.wustl.edu 37 6 31833105 31833105 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 6 31833105 31833105 G C SNP SLC44A4 ENST00000229729 human ensembl 69_37n -1 known missense c.1747 p.R583G 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A4 HGNC ENSG00000204385 45 0 0.00 23 11 32.35 - - - SLC5A1 0 genome.wustl.edu 37 22 32506050 32506050 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 22 32506050 32506050 C T SNP SLC5A1 ENST00000266088 human ensembl 69_37n +1 known silent c.1845 p.H615 0.831 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A1 HGNC ENSG00000100170 142 0 0.00 126 50 28.41 - - - SLC5A6 0 genome.wustl.edu 37 2 27430197 27430197 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 27430197 27430197 G A SNP SLC5A6 ENST00000310574 human ensembl 69_37n -1 known silent c.322 p.L108 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC ENSG00000138074 26 0 0.00 23 6 20.69 - - - SLITRK4 0 genome.wustl.edu 37 X 142716423 142716423 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 X 142716423 142716423 C G SNP SLITRK4 ENST00000338017 human ensembl 69_37n -1 known missense c.2502 p.L834F 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK4 HGNC ENSG00000179542 110 0 0.00 59 27 31.40 - - - SMG1 0 genome.wustl.edu 37 16 18903670 18903670 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 16 18903670 18903670 G A SNP SMG1 ENST00000389467 human ensembl 69_37n -1 known missense c.419 p.S140L 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 74 0 0.00 42 13 23.64 - - - SNX17 0 genome.wustl.edu 37 2 27599541 27599541 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 27599541 27599541 C T SNP SNX17 ENST00000233575 human ensembl 69_37n +1 known silent c.1368 p.V456 1.000 NULL pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX17 HGNC ENSG00000115234 103 0 0.00 95 52 35.14 - - - SORBS1 0 genome.wustl.edu 37 10 97110968 97110968 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 10 97110968 97110968 C T SNP SORBS1 ENST00000361941 human ensembl 69_37n -1 known missense c.2380 p.E794K 1.000 superfamily_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 95 0 0.00 74 31 29.52 - - - SORCS1 0 genome.wustl.edu 37 10 108536409 108536409 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 10 108536409 108536409 C T SNP SORCS1 ENST00000344440 human ensembl 69_37n -1 known silent c.768 p.L256 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 130 0 0.00 80 37 31.62 - - - SPAG17 0 genome.wustl.edu 37 1 118558619 118558619 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 118558619 118558619 G C SNP SPAG17 ENST00000336338 human ensembl 69_37n -1 known missense c.4256 p.S1419C 0.951 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 139 0 0.00 131 17 11.49 - - - SPARC 0 genome.wustl.edu 37 5 151046073 151046073 + RNA SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 151046073 151046073 G A SNP SPARC ENST00000537849 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors SPARC HGNC ENSG00000113140 52 0 0.00 25 11 30.56 - - - SPDYE3 0 genome.wustl.edu 37 7 99905564 99905564 + Nonsense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 99905564 99905564 C G SNP SPDYE3 ENST00000332397 human ensembl 69_37n +1 known nonsense c.56 p.S19* 0.007 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE3 HGNC ENSG00000214300 122 0 0.00 50 21 29.58 - - - SRPRB 0 genome.wustl.edu 37 3 133530017 133530017 + Missense_Mutation SNP C C A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 133530017 133530017 C A SNP SRPRB ENST00000466490 human ensembl 69_37n +1 known missense c.384 p.F128L 1.000 pfam_SRP_receptor_beta_su,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA pfam_SRP_receptor_beta_su,pfam_Small_GTPase_ARF/SAR,pfam_ProtSyn_GTP-bd,pfam_Gtr1_RagA - no_errors SRPRB HGNC ENSG00000144867 110 0 0.00 78 47 37.60 - - - STAB2 0 genome.wustl.edu 37 12 104146997 104146997 + Splice_Site SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 12 104146997 104146997 G C SNP STAB2 ENST00000388887 human ensembl 69_37n +1 known splice_site c.6581-1 e61-1 1.000 - - - no_errors STAB2 HGNC ENSG00000136011 62 0 0.00 49 21 30.00 - - - STARD3 0 genome.wustl.edu 37 17 37809924 37809924 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 17 37809924 37809924 C T SNP STARD3 ENST00000336308 human ensembl 69_37n +1 known missense c.140 p.S47F 1.000 pfam_MENTAL pfam_MENTAL,pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd,prints_StAR - no_errors STARD3 HGNC ENSG00000131748 67 0 0.00 70 55 44.00 - - - STAT5A 0 genome.wustl.edu 37 17 40447795 40447795 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 17 40447795 40447795 G C SNP STAT5A ENST00000345506 human ensembl 69_37n +1 known missense c.534 p.E178D 1.000 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,smart_SH2,pfscan_SH2 - no_errors STAT5A HGNC ENSG00000126561 81 0 0.00 111 30 21.28 - - - STIM2 0 genome.wustl.edu 37 4 27009196 27009196 + Silent SNP G G T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 4 27009196 27009196 G T SNP STIM2 ENST00000382009 human ensembl 69_37n +1 known silent c.1284 p.L428 0.983 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,pfscan_SAM - no_errors STIM2 HGNC ENSG00000109689 81 0 0.00 45 18 28.57 - - - STT3B 0 genome.wustl.edu 37 3 31661244 31661244 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 31661244 31661244 G A SNP STT3B ENST00000295770 human ensembl 69_37n +1 known missense c.1249 p.D417N 1.000 pfam_Oligo_trans_STT3 pfam_Oligo_trans_STT3 - no_errors STT3B HGNC ENSG00000163527 221 0 0.00 146 51 25.89 - - - SUCO 0 genome.wustl.edu 37 1 172571319 172571319 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 172571319 172571319 C T SNP SUCO ENST00000367723 human ensembl 69_37n +1 known missense c.3590 p.S1197L 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 140 0 0.00 158 33 17.28 - - - SUSD4 0 genome.wustl.edu 37 1 223396894 223396894 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 223396894 223396894 C T SNP SUSD4 ENST00000343846 human ensembl 69_37n -1 known missense c.1141 p.E381K 1.000 NULL pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD4 HGNC ENSG00000143502 22 0 0.00 21 18 46.15 - - - SYCP2 0 genome.wustl.edu 37 20 58460989 58460989 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 20 58460989 58460989 G A SNP SYCP2 ENST00000357552 human ensembl 69_37n -1 known silent c.2523 p.L841 0.004 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 105 0 0.00 68 15 18.07 - - - SYCP2 0 genome.wustl.edu 37 20 58470578 58470578 + Nonsense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 20 58470578 58470578 G A SNP SYCP2 ENST00000357552 human ensembl 69_37n -1 known nonsense c.1579 p.Q527* 0.026 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 176 0 0.00 163 76 31.80 - - - SYNE2 0 genome.wustl.edu 37 14 64691728 64691728 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 14 64691728 64691728 G A SNP SYNE2 ENST00000554584 human ensembl 69_37n +1 novel missense c.20176 p.E6726K 0.000 NULL pfam_CH-domain,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_Calpain_domain_III,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain - no_errors SYNE2 HGNC ENSG00000054654 54 0 0.00 43 17 28.33 - - - SYNE2 0 genome.wustl.edu 37 14 64692244 64692244 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 14 64692244 64692244 G C SNP SYNE2 ENST00000554584 human ensembl 69_37n +1 novel missense c.20419 p.E6807Q 0.622 NULL pfam_CH-domain,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_Calpain_domain_III,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain - no_errors SYNE2 HGNC ENSG00000054654 22 0 0.00 13 6 31.58 - - - SYT11 0 genome.wustl.edu 37 1 155838164 155838164 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 155838164 155838164 C T SNP SYT11 ENST00000368324 human ensembl 69_37n +1 known missense c.443 p.S148F 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT11 HGNC ENSG00000132718 16 0 0.00 24 17 41.46 - - - SYTL2 0 genome.wustl.edu 37 11 85445351 85445351 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 85445351 85445351 C T SNP SYTL2 ENST00000316356 human ensembl 69_37n -1 known missense c.1021 p.E341K 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain - no_errors SYTL2 HGNC ENSG00000137501 96 0 0.00 19 26 57.78 - - - TADA2A 0 genome.wustl.edu 37 17 35827573 35827573 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 17 35827573 35827573 G A SNP TADA2A ENST00000225396 human ensembl 69_37n +1 known missense c.839 p.R280Q 1.000 pirsf_Transcriptional_adaptor_2 pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors TADA2A HGNC ENSG00000108264 96 0 0.00 66 19 22.35 - - - TAMM41 0 genome.wustl.edu 37 3 11831994 11831994 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 11831994 11831994 C T SNP TAMM41 ENST00000273037 human ensembl 69_37n -1 known silent c.936 p.L312 0.997 NULL pfam_Mmp37,pirsf_Mmp37 - no_errors TAMM41 HGNC ENSG00000144559 159 0 0.00 75 36 32.43 - - - TANC1 0 genome.wustl.edu 37 2 160035418 160035418 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 160035418 160035418 G C SNP TANC1 ENST00000263635 human ensembl 69_37n +1 known missense c.2254 p.E752Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 48 0 0.00 17 8 32.00 - - - TEAD3 0 genome.wustl.edu 37 6 35446093 35446093 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 6 35446093 35446093 G A SNP TEAD3 ENST00000402886 human ensembl 69_37n -1 novel silent c.309 p.S103 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,pirsf_TEF - no_errors TEAD3 HGNC ENSG00000007866 33 0 0.00 8 7 46.67 - - - TEAD3 0 genome.wustl.edu 37 6 35446243 35446243 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 6 35446243 35446243 G A SNP TEAD3 ENST00000402886 human ensembl 69_37n -1 novel silent c.268 p.L90 1.000 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,pirsf_TEF - no_errors TEAD3 HGNC ENSG00000007866 66 0 0.00 16 17 51.52 - - - TF 0 genome.wustl.edu 37 3 133473506 133473506 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 133473506 133473506 C G SNP TF ENST00000402696 human ensembl 69_37n +1 known missense c.493 p.L165V 0.061 pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60 pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60 - no_errors TF HGNC ENSG00000091513 32 0 0.00 38 17 30.91 - - - TGOLN2 0 genome.wustl.edu 37 2 85554057 85554057 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 85554057 85554057 G A SNP TGOLN2 ENST00000377386 human ensembl 69_37n -1 known silent c.798 p.I266 0.000 NULL NULL - no_errors TGOLN2 HGNC ENSG00000152291 107 0 0.00 57 24 29.63 - - - THAP4 0 genome.wustl.edu 37 2 242572453 242572453 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 242572453 242572453 C T SNP THAP4 ENST00000407315 human ensembl 69_37n -1 known silent c.1119 p.L373 0.048 NULL pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP4 HGNC ENSG00000176946 26 0 0.00 19 17 47.22 - - - TIA1 0 genome.wustl.edu 37 2 70439953 70439953 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 70439953 70439953 C G SNP TIA1 ENST00000433529 human ensembl 69_37n -1 known missense c.1059 p.W353C 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIA1 HGNC ENSG00000116001 51 0 0.00 31 20 39.22 - - - TIMM13 0 genome.wustl.edu 37 19 2426965 2426965 + Missense_Mutation SNP C C A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 2426965 2426965 C A SNP TIMM13 ENST00000215570 human ensembl 69_37n -1 known missense c.269 p.R90L 1.000 superfamily_Tim8/9/10/13_Znf-like pfam_Tim8/9/10/13_Znf-like,superfamily_Tim8/9/10/13_Znf-like - no_errors TIMM13 HGNC ENSG00000099800 13 0 0.00 6 5 45.45 - - - TJP3 0 genome.wustl.edu 37 19 3747917 3747917 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 3747917 3747917 C T SNP TJP3 ENST00000262968 human ensembl 69_37n +1 known silent c.2547 p.Y849 1.000 NULL pfam_PDZ,pfam_SH3_2,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS3,prints_ZonOcculdens - no_errors TJP3 HGNC ENSG00000105289 13 0 0.00 6 4 40.00 - - - TLR4 0 genome.wustl.edu 37 9 120476354 120476354 + Missense_Mutation SNP C C A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 9 120476354 120476354 C A SNP TLR4 ENST00000355622 human ensembl 69_37n +1 known missense c.1948 p.L650M 0.071 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 167 0 0.00 127 51 28.49 - - - TMCO3 0 genome.wustl.edu 37 13 114188406 114188406 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 13 114188406 114188406 C G SNP TMCO3 ENST00000434316 human ensembl 69_37n +1 known missense c.1390 p.L464V 0.999 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors TMCO3 HGNC ENSG00000150403 266 0 0.00 175 45 20.36 - - - TMCO6 0 genome.wustl.edu 37 5 140022222 140022222 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 140022222 140022222 C T SNP TMCO6 ENST00000252100 human ensembl 69_37n +1 known silent c.655 p.L219 0.965 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo,pfscan_Importin-a_IBB - no_errors TMCO6 HGNC ENSG00000113119 56 0 0.00 40 19 32.20 - - - TNRC6B 0 genome.wustl.edu 37 22 40662525 40662525 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 22 40662525 40662525 C G SNP TNRC6B ENST00000454349 human ensembl 69_37n +1 known missense c.2291 p.S764C 0.996 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 76 0 0.00 13 10 43.48 - - - TOP3B 0 genome.wustl.edu 37 22 22319685 22319685 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 22 22319685 22319685 C G SNP TOP3B ENST00000357179 human ensembl 69_37n -1 known missense c.915 p.E305D 1.000 pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 66 0 0.00 47 21 30.88 - - - TOR1AIP1 0 genome.wustl.edu 37 1 179887000 179887000 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 179887000 179887000 G C SNP TOR1AIP1 ENST00000435319 human ensembl 69_37n +1 known missense c.1378 p.E460Q 0.824 pfam_Lamina-ass_polypeptide_CLAP1C pfam_Lamina-ass_polypeptide_CLAP1C - no_errors TOR1AIP1 HGNC ENSG00000143337 60 0 0.00 76 21 21.65 - - - TPP2 0 genome.wustl.edu 37 13 103299562 103299562 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 13 103299562 103299562 G A SNP TPP2 ENST00000376065 human ensembl 69_37n +1 known silent c.2496 p.K832 1.000 pfam_Peptidase_S8A_TPPII pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 111 0 0.00 49 21 30.00 - - - TPR 0 genome.wustl.edu 37 1 186303607 186303607 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 186303607 186303607 G C SNP TPR ENST00000367478 human ensembl 69_37n -1 known missense c.5032 p.P1678A 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 156 0 0.00 260 55 17.41 - - - TRIM22 0 genome.wustl.edu 37 11 5718549 5718549 + Nonsense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 5718549 5718549 C T SNP TRIM22 ENST00000414897 human ensembl 69_37n +1 known nonsense c.226 p.Q76* 0.000 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TRIM22 HGNC ENSG00000132274 41 0 0.00 38 8 17.39 - - - TRMT1L 0 genome.wustl.edu 37 1 185120963 185120963 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 185120963 185120963 C G SNP TRMT1L ENST00000367506 human ensembl 69_37n -1 known missense c.340 p.D114H 0.533 NULL pfam_tRNA_MeTrfase_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors TRMT1L HGNC ENSG00000121486 101 0 0.00 77 41 34.75 - - - TRPM6 0 genome.wustl.edu 37 9 77377646 77377646 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 9 77377646 77377646 C T SNP TRPM6 ENST00000451710 human ensembl 69_37n -1 known missense c.3941 p.R1314K 0.004 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 116 0 0.00 91 35 27.78 - - - TSPAN15 0 genome.wustl.edu 37 10 71255361 71255361 + Missense_Mutation SNP C C A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 10 71255361 71255361 C A SNP TSPAN15 ENST00000373290 human ensembl 69_37n +1 known missense c.369 p.F123L 0.985 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN15 HGNC ENSG00000099282 131 0 0.00 88 49 35.77 - - - TSPEAR 0 genome.wustl.edu 37 21 45929232 45929232 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 21 45929232 45929232 C T SNP TSPEAR ENST00000323084 human ensembl 69_37n -1 known missense c.1604 p.G535E 0.751 pfam_EPTP,pfscan_EAR pfam_EPTP,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 44 0 0.00 52 9 14.75 - - - TTN 0 genome.wustl.edu 37 2 179426201 179426201 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 179426201 179426201 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.76954 p.D25652N 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 ENSG00000155657 93 0 0.00 59 13 18.06 - - - TTN 0 genome.wustl.edu 37 2 179427679 179427679 + Nonsense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 179427679 179427679 G C SNP TTN ENST00000342992 human ensembl 69_37n -1 known nonsense c.75476 p.S25159* 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 ENSG00000155657 56 0 0.00 34 21 38.18 - - - TUBA4A 0 genome.wustl.edu 37 2 220115948 220115948 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 220115948 220115948 G C SNP TUBA4A ENST00000248437 human ensembl 69_37n -1 known missense c.473 p.S158C 1.000 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin,prints_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_Beta_tubulin,prints_Delta_tubulin - no_errors TUBA4A HGNC ENSG00000127824 50 0 0.00 27 17 38.64 - - - TUBGCP2 0 genome.wustl.edu 37 10 135106636 135106636 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 10 135106636 135106636 C G SNP TUBGCP2 ENST00000543663 human ensembl 69_37n -1 known missense c.1015 p.E339Q 1.000 pfam_Spc97_Spc98 pfam_Spc97_Spc98,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 33 0 0.00 27 4 12.90 - - - TXK 0 genome.wustl.edu 37 4 48076019 48076019 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 4 48076019 48076019 G C SNP TXK ENST00000264316 human ensembl 69_37n -1 known missense c.1290 p.I430M 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors TXK HGNC ENSG00000074966 62 0 0.00 45 23 33.82 - - - UBE3B 0 genome.wustl.edu 37 12 109958979 109958979 + Silent SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 12 109958979 109958979 C G SNP UBE3B ENST00000342494 human ensembl 69_37n +1 known silent c.2103 p.L701 0.860 superfamily_HECT,smart_HECT pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 56 0 0.00 30 21 41.18 - - - UBR1 0 genome.wustl.edu 37 15 43281144 43281144 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 15 43281144 43281144 G C SNP UBR1 ENST00000290650 human ensembl 69_37n -1 known missense c.3870 p.I1290M 0.999 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 64 0 0.00 39 15 27.78 - - - ULK4 0 genome.wustl.edu 37 3 41938469 41938469 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 3 41938469 41938469 G C SNP ULK4 ENST00000301831 human ensembl 69_37n -1 known missense c.1375 p.Q459E 1.000 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 ULK4 HGNC ENSG00000168038 18 0 0.00 14 5 26.32 - - - UNC5D 0 genome.wustl.edu 37 8 35606082 35606082 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 8 35606082 35606082 G A SNP UNC5D ENST00000404895 human ensembl 69_37n +1 known missense c.1804 p.E602K 1.000 pfam_ZU5,smart_ZU5,pfscan_ZU5 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 ENSG00000156687 65 0 0.00 51 17 25.00 - - - USH1C 0 genome.wustl.edu 37 11 17522697 17522697 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 17522697 17522697 C G SNP USH1C ENST00000005226 human ensembl 69_37n -1 known missense c.2281 p.E761Q 1.000 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 32 0 0.00 27 9 25.00 - - - USP34 0 genome.wustl.edu 37 2 61622053 61622053 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 2 61622053 61622053 C G SNP USP34 ENST00000398571 human ensembl 69_37n -1 known missense c.688 p.E230Q 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 106 0 0.00 67 27 28.72 - - - USP9X 0 genome.wustl.edu 37 X 41056704 41056704 + Nonsense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 X 41056704 41056704 C T SNP USP9X ENST00000324545 human ensembl 69_37n +1 known nonsense c.4321 p.Q1441* 1.000 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP9X HGNC ENSG00000124486 116 0 0.00 75 19 20.21 - - - VAV1 0 genome.wustl.edu 37 19 6826674 6826674 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 6826674 6826674 C G SNP VAV1 ENST00000304076 human ensembl 69_37n +1 known missense c.879 p.H293Q 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 ENSG00000141968 60 0 0.00 32 19 37.25 - - - VPS13C 0 genome.wustl.edu 37 15 62238536 62238536 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 15 62238536 62238536 C T SNP VPS13C ENST00000261517 human ensembl 69_37n -1 known missense c.4950 p.M1650I 0.007 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 117 0 0.00 45 27 37.50 - - - VPS72 0 genome.wustl.edu 37 1 151149393 151149393 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 151149393 151149393 G A SNP VPS72 ENST00000368892 human ensembl 69_37n -1 known silent c.822 p.F274 1.000 NULL pfam_YL1,pfam_YL1_C - no_errors VPS72 HGNC ENSG00000163159 33 0 0.00 44 5 10.20 - - - VWF 0 genome.wustl.edu 37 12 6092323 6092323 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 12 6092323 6092323 G A SNP VWF ENST00000261405 human ensembl 69_37n -1 known silent c.7074 p.F2358 0.985 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 45 0 0.00 23 8 25.81 - - - WASF1 0 genome.wustl.edu 37 6 110424677 110424677 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 6 110424677 110424677 C G SNP WASF1 ENST00000359451 human ensembl 69_37n -1 known missense c.797 p.R266T 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC ENSG00000112290 112 0 0.00 37 24 39.34 - - - WASF1 0 genome.wustl.edu 37 6 110434547 110434547 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 6 110434547 110434547 C T SNP WASF1 ENST00000359451 human ensembl 69_37n -1 known missense c.250 p.D84N 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WASF1 HGNC ENSG00000112290 92 0 0.00 39 29 42.65 - - - WDR36 0 genome.wustl.edu 37 5 110454814 110454814 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 110454814 110454814 C G SNP WDR36 ENST00000506538 human ensembl 69_37n +1 known missense c.2068 p.L690V 0.979 smart_WD40_repeat pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 150 1 0.66 97 19 16.38 - - - XKR7 0 genome.wustl.edu 37 20 30556266 30556266 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 20 30556266 30556266 C T SNP XKR7 ENST00000217299 human ensembl 69_37n +1 known silent c.288 p.F96 0.998 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000101321 20 0 0.00 21 13 38.24 - - - XPO6 0 genome.wustl.edu 37 16 28112956 28112956 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 16 28112956 28112956 G A SNP XPO6 ENST00000304658 human ensembl 69_37n -1 known silent c.3099 p.V1033 0.993 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO6 HGNC ENSG00000169180 50 0 0.00 28 15 34.88 - - - XRCC4 0 genome.wustl.edu 37 5 82491606 82491606 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 5 82491606 82491606 C T SNP XRCC4 ENST00000338635 human ensembl 69_37n +1 known silent c.333 p.F111 0.994 pfam_DNA_ds_break_repair_XRCC4,superfamily_XRCC4_N pfam_DNA_ds_break_repair_XRCC4,superfamily_XRCC4_N - no_errors XRCC4 HGNC ENSG00000152422 119 0 0.00 76 21 21.65 - - - YAE1D1 0 genome.wustl.edu 37 7 39612069 39612069 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 39612069 39612069 G C SNP YAE1D1 ENST00000223273 human ensembl 69_37n +1 known missense c.445 p.E149Q 0.010 NULL pfam_Essential_protein_Yae1_N - no_errors YAE1D1 HGNC ENSG00000241127 140 0 0.00 85 23 21.30 - - - ZBTB2 0 genome.wustl.edu 37 6 151694745 151694745 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 6 151694745 151694745 G C SNP ZBTB2 ENST00000325144 human ensembl 69_37n -1 known missense c.28 p.L10V 1.000 superfamily_BTB/POZ_fold pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB2 HGNC ENSG00000181472 114 0 0.00 38 39 50.65 - - - ZC3H7A 0 genome.wustl.edu 37 16 11861345 11861345 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 16 11861345 11861345 C T SNP ZC3H7A ENST00000355758 human ensembl 69_37n -1 known missense c.1450 p.D484N 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H7A HGNC ENSG00000122299 225 0 0.00 147 49 25.00 - - - ZFYVE19 0 genome.wustl.edu 37 15 41105568 41105568 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 15 41105568 41105568 G A SNP ZFYVE19 ENST00000355341 human ensembl 69_37n +1 known missense c.1063 p.D355N 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE19 HGNC ENSG00000166140 55 0 0.00 26 9 25.71 - - - ZNF20 0 genome.wustl.edu 37 19 12243957 12243957 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 12243957 12243957 G A SNP ZNF20 ENST00000334213 human ensembl 69_37n -1 known silent c.1044 p.F348 0.514 smart_Znf_C2H2-like,pfscan_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 ZNF20 HGNC ENSG00000132010 53 0 0.00 94 49 34.27 - - - ZNF20 0 genome.wustl.edu 37 19 12244352 12244352 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 12244352 12244352 G C SNP ZNF20 ENST00000334213 human ensembl 69_37n -1 known missense c.649 p.H217D 0.475 smart_Znf_C2H2-like,pfscan_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 ZNF20 HGNC ENSG00000132010 68 0 0.00 69 37 34.91 - - - ZNF329 0 genome.wustl.edu 37 19 58639869 58639869 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 58639869 58639869 G A SNP ZNF329 ENST00000358067 human ensembl 69_37n -1 known silent c.1002 p.L334 0.968 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 112 0 0.00 77 40 34.19 - - - ZNF34 0 genome.wustl.edu 37 8 145999258 145999258 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 8 145999258 145999258 C G SNP ZNF34 ENST00000343459 human ensembl 69_37n -1 known missense c.1076 p.G359A 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 ZNF34 HGNC ENSG00000196378 66 0 0.00 51 21 29.17 - - - ZNF347 0 genome.wustl.edu 37 19 53643693 53643693 + Silent SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 53643693 53643693 C T SNP ZNF347 ENST00000452676 human ensembl 69_37n -1 known silent c.2391 p.G797 0.136 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 ZNF347 HGNC ENSG00000197937 131 1 0.76 115 42 26.75 - - - ZNF385A 0 genome.wustl.edu 37 12 54778269 54778269 + Silent SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 12 54778269 54778269 G A SNP ZNF385A ENST00000338010 human ensembl 69_37n -1 known silent c.90 p.I30 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385A HGNC ENSG00000161642 32 0 0.00 10 7 41.18 - - - ZNF397 0 genome.wustl.edu 37 18 32825765 32825765 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 18 32825765 32825765 G A SNP ZNF397 ENST00000330501 human ensembl 69_37n +1 known missense c.1096 p.E366K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF397 HGNC ENSG00000186812 51 0 0.00 58 23 28.40 - - - ZNF462 0 genome.wustl.edu 37 9 109689443 109689443 + Missense_Mutation SNP G G C TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 9 109689443 109689443 G C SNP ZNF462 ENST00000457913 human ensembl 69_37n +1 known missense c.3250 p.E1084Q 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 53 0 0.00 42 13 23.64 - - - ZNF630 0 genome.wustl.edu 37 X 47918311 47918311 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 X 47918311 47918311 C T SNP ZNF630 ENST00000409324 human ensembl 69_37n -1 known missense c.1520 p.R507K 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 ZNF630 HGNC ENSG00000221994 102 0 0.00 78 30 27.78 - - - ZNF804B 0 genome.wustl.edu 37 7 88965217 88965217 + Missense_Mutation SNP G G A TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 7 88965217 88965217 G A SNP ZNF804B ENST00000333190 human ensembl 69_37n +1 known missense c.2921 p.R974K 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 49 0 0.00 29 7 19.44 - - - ZNF836 0 genome.wustl.edu 37 19 52660057 52660057 + Silent SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 19 52660057 52660057 C G SNP ZNF836 ENST00000322146 human ensembl 69_37n -1 known silent c.879 p.R293 0.234 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF836 HGNC ENSG00000196267 105 0 0.00 83 36 30.25 - - - ZP1 0 genome.wustl.edu 37 11 60637194 60637194 + Missense_Mutation SNP C C G TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 11 60637194 60637194 C G SNP ZP1 ENST00000278853 human ensembl 69_37n +1 known missense c.503 p.S168C 0.001 NULL pfam_Zona_pellucida_Endoglin/CD105,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP1 HGNC ENSG00000149506 91 0 0.00 49 12 19.67 - - - ZP4 0 genome.wustl.edu 37 1 238053239 238053239 + Missense_Mutation SNP C C T TCGA-EW-A1J5-01A-11D-A13L-09 TCGA-EW-A1J5-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 98bb3025-0637-4106-8621-12df7b5d662f d0c5457b-7ba5-4482-acc8-edc375e0e121 1 238053239 238053239 C T SNP ZP4 ENST00000366570 human ensembl 69_37n -1 known missense c.328 p.E110K 0.002 NULL pfam_Zona_pellucida_Endoglin/CD105,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP4 HGNC ENSG00000116996 68 0 0.00 116 27 18.88 - - -