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 AACS 0 genome.wustl.edu 37 12 125558450 125558450 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 125558450 125558450 C T SNP AACS ENST00000316519 human ensembl 69_37n +1 known silent c.162 p.S54 0.140 pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 166 0 0.00 178 38 17.59 - - - AAK1 0 genome.wustl.edu 37 2 69757821 69757821 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 69757821 69757821 T C SNP AAK1 ENST00000409085 human ensembl 69_37n -1 known missense c.674 p.Y225C 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 AAK1 HGNC ENSG00000115977 138 0 0.00 117 74 38.74 - - - ABCA13 0 genome.wustl.edu 37 7 48259016 48259016 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 48259016 48259016 T A SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known missense c.353 p.I118K 0.423 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 41 0 0.00 40 23 36.51 - - - ABCA13 0 genome.wustl.edu 37 7 48285189 48285189 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 48285189 48285189 T C SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known missense c.1471 p.F491L 0.003 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 64 0 0.00 80 33 29.20 - - - ABCA13 0 genome.wustl.edu 37 7 48407468 48407469 + Frame_Shift_Ins INS - - A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 48407468 48407469 - A INS ABCA13 ENST00000435803 human ensembl 69_37n +1 known frame_shift_ins c.10766_10767 p.L3591fs 0.994:0.885 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 143 0 0.00 170 56 24.78 - - - ABCA3 0 genome.wustl.edu 37 16 2369781 2369781 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 2369781 2369781 T C SNP ABCA3 ENST00000301732 human ensembl 69_37n -1 known missense c.674 p.Y225C 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 56 0 0.00 34 21 36.84 - - - ABCC11 0 genome.wustl.edu 37 16 48201522 48201522 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 48201522 48201522 G A SNP ABCC11 ENST00000356608 human ensembl 69_37n -1 known missense c.3941 p.T1314I 0.054 smart_AAA+_ATPase,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 ABCC11 HGNC ENSG00000121270 78 0 0.00 77 33 30.00 - - - ABCC2 0 genome.wustl.edu 37 10 101572815 101572815 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 101572815 101572815 A G SNP ABCC2 ENST00000370449 human ensembl 69_37n +1 known missense c.2008 p.I670V 1.000 smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 46 0 0.00 30 20 40.00 - - - ABCC5 0 genome.wustl.edu 37 3 183683014 183683014 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 183683014 183683014 T C SNP ABCC5 ENST00000334444 human ensembl 69_37n -1 known missense c.1990 p.R664G 1.000 pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,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 ABCC5 HGNC ENSG00000114770 73 0 0.00 80 30 27.27 - - - ABHD13 0 genome.wustl.edu 37 13 108881759 108881759 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 13 108881759 108881759 C T SNP ABHD13 ENST00000375898 human ensembl 69_37n +1 known missense c.193 p.L65F 1.000 NULL pfam_AB_hydrolase_1,pfam_AXE1 - no_errors ABHD13 HGNC ENSG00000139826 95 0 0.00 61 52 46.02 - - - ABHD2 0 genome.wustl.edu 37 15 89698709 89698709 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 89698709 89698709 A G SNP ABHD2 ENST00000352732 human ensembl 69_37n +1 known missense c.482 p.N161S 1.000 pirsf_AB-Hydro_YheT pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT - no_errors ABHD2 HGNC ENSG00000140526 74 0 0.00 95 23 19.49 - - - ABR 0 genome.wustl.edu 37 17 910413 910413 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 910413 910413 T A SNP ABR ENST00000302538 human ensembl 69_37n -1 known missense c.2482 p.M828L 1.000 superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,smart_RhoGAP_dom,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors ABR HGNC ENSG00000159842 106 0 0.00 62 34 35.42 - - - ACE 0 genome.wustl.edu 37 17 61566421 61566421 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 61566421 61566421 C T SNP ACE ENST00000290866 human ensembl 69_37n +1 known missense c.2569 p.R857C 1.000 pfam_Peptidase_M2,prints_Peptidase_M2 pfam_Peptidase_M2,prints_Peptidase_M2 - no_errors ACE HGNC ENSG00000159640 69 0 0.00 57 27 32.14 - - - ACHE 0 genome.wustl.edu 37 7 100491531 100491531 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 100491531 100491531 T C SNP ACHE ENST00000302913 human ensembl 69_37n -1 known missense c.323 p.Y108C 1.000 pfam_CarbesteraseB,prints_Cholinesterase pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 49 0 0.00 79 13 14.13 - - - ACIN1 0 genome.wustl.edu 37 14 23532278 23532278 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 23532278 23532278 A G SNP ACIN1 ENST00000262710 human ensembl 69_37n -1 known silent c.2917 p.L973 0.997 NULL pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd - no_errors ACIN1 HGNC ENSG00000100813 50 0 0.00 37 25 40.32 - - - ACOX1 0 genome.wustl.edu 37 17 73951690 73951690 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 73951690 73951690 T C SNP ACOX1 ENST00000293217 human ensembl 69_37n -1 known missense c.731 p.N244S 1.000 superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase - no_errors ACOX1 HGNC ENSG00000161533 132 1 0.75 124 28 18.42 - - - ACSF2 0 genome.wustl.edu 37 17 48551262 48551262 + Missense_Mutation SNP G G C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 48551262 48551262 G C SNP ACSF2 ENST00000300441 human ensembl 69_37n +1 known missense c.1625 p.G542A 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ENSG00000167107 119 0 0.00 85 57 40.14 - - - ACSL6 0 genome.wustl.edu 37 5 131323822 131323822 + Silent SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 131323822 131323822 G T SNP ACSL6 ENST00000296869 human ensembl 69_37n -1 known silent c.750 p.I250 0.998 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL6 HGNC ENSG00000164398 148 1 0.67 111 48 30.19 - - - ACTN1 0 genome.wustl.edu 37 14 69341721 69341721 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 69341721 69341721 A G SNP ACTN1 ENST00000394419 human ensembl 69_37n -1 known missense c.2600 p.M867T 0.956 pfam_EF-hand_Ca_insen pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN1 HGNC ENSG00000072110 23 0 0.00 12 6 33.33 - - - ACTN1 0 genome.wustl.edu 37 14 69358906 69358906 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 69358906 69358906 C T SNP ACTN1 ENST00000394419 human ensembl 69_37n -1 known missense c.950 p.R317Q 1.000 pfam_Spectrin_repeat pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN1 HGNC ENSG00000072110 72 0 0.00 77 11 12.50 - - - ADAM21 0 genome.wustl.edu 37 14 70926261 70926261 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 70926261 70926261 T - DEL ADAM21 ENST00000267499 human ensembl 69_37n +1 known frame_shift_del c.2045 p.L684fs 0.000 NULL pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM21 HGNC ENSG00000139985 92 0 0.00 80 33 28.70 - - - ADAM23 0 genome.wustl.edu 37 2 207460861 207460861 + Frame_Shift_Del DEL C C - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 207460861 207460861 C - DEL ADAM23 ENST00000264377 human ensembl 69_37n +1 known frame_shift_del c.2334 p.K781fs 0.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 75 0 0.00 85 25 22.73 - - - ADAMTS20 0 genome.wustl.edu 37 12 43825144 43825144 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 43825144 43825144 T C SNP ADAMTS20 ENST00000389420 human ensembl 69_37n -1 known silent c.3252 p.P1084 0.848 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS20 HGNC ENSG00000173157 49 0 0.00 57 30 34.48 - - - ADCY2 0 genome.wustl.edu 37 5 7414819 7414819 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 7414819 7414819 T C SNP ADCY2 ENST00000338316 human ensembl 69_37n +1 known missense c.344 p.I115T 0.863 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 279 0 0.00 307 116 27.42 - - - ADIPOR2 0 genome.wustl.edu 37 12 1887038 1887038 + Nonsense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 1887038 1887038 C T SNP ADIPOR2 ENST00000357103 human ensembl 69_37n +1 known nonsense c.310 p.R104* 1.000 NULL pfam_HlyIII-related - no_errors ADIPOR2 HGNC ENSG00000006831 74 0 0.00 103 30 22.22 - - - AGAP1 0 genome.wustl.edu 37 2 236653360 236653360 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 236653360 236653360 G A SNP AGAP1 ENST00000304032 human ensembl 69_37n +1 known missense c.415 p.A139T 1.000 pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 130 0 0.00 128 38 22.89 - - - AGAP7 0 genome.wustl.edu 37 10 51465346 51465346 + Frame_Shift_Del DEL G G - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 51465346 51465346 G - DEL AGAP7 ENST00000374095 human ensembl 69_37n -1 known frame_shift_del c.1110 p.S371fs 0.996 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP7 HGNC ENSG00000204169 61 0 0.00 49 28 35.90 - - - AGBL2 0 genome.wustl.edu 37 11 47698891 47698891 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 47698891 47698891 A G SNP AGBL2 ENST00000357610 human ensembl 69_37n -1 known silent c.2079 p.H693 0.015 NULL pfam_Peptidase_M14 - no_errors AGBL2 HGNC ENSG00000165923 113 0 0.00 127 50 28.25 - - - AGBL2 0 genome.wustl.edu 37 11 47721055 47721055 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 47721055 47721055 T C SNP AGBL2 ENST00000357610 human ensembl 69_37n -1 known missense c.637 p.K213E 0.024 NULL pfam_Peptidase_M14 - no_errors AGBL2 HGNC ENSG00000165923 198 0 0.00 196 77 28.21 - - - AGFG2 0 genome.wustl.edu 37 7 100159981 100159981 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 100159981 100159981 C A SNP AGFG2 ENST00000300176 human ensembl 69_37n +1 known missense c.977 p.P326H 0.066 NULL pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG2 HGNC ENSG00000106351 23 0 0.00 22 13 37.14 - - - AHCTF1 0 genome.wustl.edu 37 1 247012977 247012977 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 247012977 247012977 A T SNP AHCTF1 ENST00000326225 human ensembl 69_37n -1 known missense c.6358 p.S2120T 1.000 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 193 0 0.00 302 97 24.31 - - - AHCTF1 0 genome.wustl.edu 37 1 247030635 247030635 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 247030635 247030635 T C SNP AHCTF1 ENST00000326225 human ensembl 69_37n -1 known silent c.3285 p.P1095 0.563 NULL superfamily_Quinonprotein_ADH-like - no_errors AHCTF1 HGNC ENSG00000153207 29 0 0.00 65 9 12.16 - - - AHNAK 0 genome.wustl.edu 37 11 62287328 62287328 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 62287328 62287328 A G SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.14561 p.V4854A 1.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 116 0 0.00 78 57 42.22 - - - AHNAK 0 genome.wustl.edu 37 11 62291016 62291016 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 62291016 62291016 T C SNP AHNAK ENST00000378024 human ensembl 69_37n -1 known missense c.10873 p.T3625A 0.731 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 133 0 0.00 87 63 41.72 - - - AHNAK2 0 genome.wustl.edu 37 14 105410652 105410652 + Silent SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 105410652 105410652 G T SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known silent c.11136 p.P3712 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 82 0 0.00 88 42 32.06 - - - AHNAK2 0 genome.wustl.edu 37 14 105419812 105419812 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 105419812 105419812 T - DEL AHNAK2 ENST00000333244 human ensembl 69_37n -1 known frame_shift_del c.1976 p.K659fs 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 180 0 0.00 207 60 22.06 - - - AHSG 0 genome.wustl.edu 37 3 186338515 186338515 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 186338515 186338515 A G SNP AHSG ENST00000411641 human ensembl 69_37n +1 known silent c.900 p.L300 0.000 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors AHSG HGNC ENSG00000145192 44 0 0.00 63 21 25.00 - - - AIMP2 0 genome.wustl.edu 37 7 6063111 6063111 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 6063111 6063111 A - DEL AIMP2 ENST00000223029 human ensembl 69_37n +1 known frame_shift_del c.752 p.A253fs 1.000 superfamily_Glutathione-S-Trfase_C-like superfamily_Glutathione-S-Trfase_C-like - no_errors AIMP2 HGNC ENSG00000106305 59 0 0.00 67 37 35.24 - - - AKAP5 0 genome.wustl.edu 37 14 64936324 64936324 + Silent SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 64936324 64936324 T A SNP AKAP5 ENST00000320636 human ensembl 69_37n +1 known silent c.1212 p.I404 1.000 NULL pfam_Pkinase-A_anch_WSK-motif - no_errors AKAP5 HGNC ENSG00000179841 41 0 0.00 28 22 44.00 - - - AKD1 0 genome.wustl.edu 37 6 109827679 109827679 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 109827679 109827679 C T SNP AKD1 ENST00000424296 human ensembl 69_37n -1 known missense c.4700 p.G1567D 0.000 pfam_Adenylate_kin,smart_AAA+_ATPase pfam_Adenylate_kin,pfam_YHS,smart_AAA+_ATPase - no_errors AKD1 HGNC ENSG00000155085 150 0 0.00 126 95 42.79 - - - ALB 0 genome.wustl.edu 37 4 74285358 74285358 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 74285358 74285358 T C SNP ALB ENST00000295897 human ensembl 69_37n +1 known splice_site c.1785+2 e13+2 0.992 - - - no_errors ALB HGNC ENSG00000163631 71 0 0.00 107 40 27.03 - - - ALDH3A2 0 genome.wustl.edu 37 17 19575060 19575060 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 19575060 19575060 G A SNP ALDH3A2 ENST00000339618 human ensembl 69_37n +1 known missense c.1234 p.G412R 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A2 HGNC ENSG00000072210 66 0 0.00 68 26 27.66 - - - ALG6 0 genome.wustl.edu 37 1 63876980 63876980 + Nonsense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 63876980 63876980 A T SNP ALG6 ENST00000263440 human ensembl 69_37n +1 known nonsense c.664 p.K222* 1.000 pfam_Glyco_trans_ALG6/ALG8 pfam_Glyco_trans_ALG6/ALG8 - no_errors ALG6 HGNC ENSG00000088035 96 0 0.00 138 47 25.41 - - - ALOX15 0 genome.wustl.edu 37 17 4535246 4535246 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 4535246 4535246 A G SNP ALOX15 ENST00000545513 human ensembl 69_37n -1 known missense c.1813 p.F605L 0.001 pfam_LipOase_C,superfamily_LipOase_C,prints_LipOase_mml pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C,pfscan_LipOase_LH2 - no_errors ALOX15 HGNC ENSG00000161905 74 0 0.00 35 36 50.70 - - - AMD1 0 genome.wustl.edu 37 6 111213605 111213605 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 111213605 111213605 T C SNP AMD1 ENST00000368885 human ensembl 69_37n +1 known missense c.574 p.F192L 1.000 pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr pfam_S-AdoMet_decarboxylase,superfamily_S-AdoMet_deCO2ase_core,pirsf_S-AdoMet_decarboxylase_subgr,tigrfam_S-AdoMet_decarboxylase_subgr - no_errors AMD1 HGNC ENSG00000123505 115 0 0.00 157 61 27.85 - - - AMIGO3 0 genome.wustl.edu 37 3 49756369 49756369 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 49756369 49756369 A G SNP AMIGO3 ENST00000320431 human ensembl 69_37n -1 known missense c.530 p.L177P 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors AMIGO3 HGNC ENSG00000176020 22 0 0.00 23 11 32.35 - - - AMZ1 0 genome.wustl.edu 37 7 2748352 2748352 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 2748352 2748352 T C SNP AMZ1 ENST00000312371 human ensembl 69_37n +1 known splice_site c.601+2 e3+2 1.000 - - - no_errors AMZ1 HGNC ENSG00000174945 51 0 0.00 22 8 25.81 - - - ANK2 0 genome.wustl.edu 37 4 114117624 114117624 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 114117624 114117624 T C SNP ANK2 ENST00000357077 human ensembl 69_37n +1 known splice_site c.285+2 e3+2 1.000 - - - no_errors ANK2 HGNC ENSG00000145362 110 0 0.00 75 52 40.62 - - - ANK3 0 genome.wustl.edu 37 10 61823945 61823946 + Frame_Shift_Ins INS - - T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 61823945 61823946 - T INS ANK3 ENST00000280772 human ensembl 69_37n -1 known frame_shift_ins c.12421_12420 p.W4140fs 1.000:1.000 pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 126 0 0.00 136 46 25.27 - - - ANK3 0 genome.wustl.edu 37 10 61842479 61842479 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 61842479 61842479 T A SNP ANK3 ENST00000280772 human ensembl 69_37n -1 known missense c.4217 p.Q1406L 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 121 0 0.00 114 48 29.63 - - - ANKRD11 0 genome.wustl.edu 37 16 89357145 89357145 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 89357145 89357145 C A SNP ANKRD11 ENST00000301030 human ensembl 69_37n -1 known missense c.489 p.K163N 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 42 0 0.00 53 9 14.52 - - - ANKRD45 0 genome.wustl.edu 37 1 173593947 173593947 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 173593947 173593947 A G SNP ANKRD45 ENST00000333279 human ensembl 69_37n -1 known missense c.709 p.F237L 0.079 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD45 HGNC ENSG00000183831 174 0 0.00 194 71 26.69 - - - ANKRD49 0 genome.wustl.edu 37 11 94230120 94230120 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 94230120 94230120 A - DEL ANKRD49 ENST00000534911 human ensembl 69_37n +1 known frame_shift_del c.261 p.K90fs 1.000 NULL NULL - no_errors ANKRD49 HGNC ENSG00000168876 23 0 0.00 34 9 20.45 - - - ANKRD49 0 genome.wustl.edu 37 11 94231399 94231399 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 94231399 94231399 G A SNP ANKRD49 ENST00000302755 human ensembl 69_37n +1 known missense c.421 p.G141S 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD49 HGNC ENSG00000168876 73 0 0.00 137 42 23.46 - - - ANKZF1 0 genome.wustl.edu 37 2 220098589 220098589 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 220098589 220098589 C T SNP ANKZF1 ENST00000323348 human ensembl 69_37n +1 known silent c.972 p.I324 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKZF1 HGNC ENSG00000163516 51 0 0.00 41 11 21.15 - - - ANP32D 0 genome.wustl.edu 37 12 48866672 48866672 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 48866672 48866672 A G SNP ANP32D ENST00000266594 human ensembl 69_37n +1 known silent c.225 p.R75 0.971 NULL NULL - no_errors ANP32D HGNC ENSG00000139223 104 0 0.00 62 67 51.54 - - - ANXA5 0 genome.wustl.edu 37 4 122593748 122593749 + Frame_Shift_Ins INS - - C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 122593748 122593749 - C INS ANXA5 ENST00000296511 human ensembl 69_37n -1 known frame_shift_ins c.565_564 p.T188fs 1.000:0.995 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinV,prints_AnnexinIV - no_errors ANXA5 HGNC ENSG00000164111 107 0 0.00 135 18 11.76 - - - AP2A2 0 genome.wustl.edu 37 11 977175 977175 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 977175 977175 T C SNP AP2A2 ENST00000332231 human ensembl 69_37n +1 known missense c.554 p.M185T 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 AP2A2 HGNC ENSG00000183020 65 0 0.00 34 24 41.38 - - - APC 0 genome.wustl.edu 37 5 112179043 112179043 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 112179043 112179043 A - DEL APC ENST00000257430 human ensembl 69_37n +1 known frame_shift_del c.7752 p.S2586fs 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 33 0 0.00 30 15 31.25 - - - API5 0 genome.wustl.edu 37 11 43357466 43357466 + Nonsense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 43357466 43357466 G T SNP API5 ENST00000531273 human ensembl 69_37n +1 known nonsense c.1414 p.G472* 1.000 pfam_API5,superfamily_ARM-type_fold pfam_API5,superfamily_ARM-type_fold - no_errors API5 HGNC ENSG00000166181 120 0 0.00 119 58 32.77 - - - APMAP 0 genome.wustl.edu 37 20 24952186 24952187 + Frame_Shift_Del DEL CA CA - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 24952186 24952187 CA - DEL APMAP ENST00000217456 human ensembl 69_37n -1 known frame_shift_del c.448_447 p.C149fs 1.000:1.000 NULL pfam_Strictosidine_synth_cons-reg,pfam_SGL - no_errors APMAP HGNC ENSG00000101474 48 0 0.00 51 6 10.53 - - - APOB 0 genome.wustl.edu 37 2 21236260 21236260 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 21236260 21236260 G T SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.3988 p.L1330M 0.000 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 77 0 0.00 111 26 18.98 - - - APOBEC1 0 genome.wustl.edu 37 12 7805077 7805077 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 7805077 7805077 G T SNP APOBEC1 ENST00000229304 human ensembl 69_37n -1 known missense c.399 p.D133E 0.635 pfam_APOBEC_C,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC1 HGNC ENSG00000111701 31 0 0.00 35 21 37.50 - - - APPL2 0 genome.wustl.edu 37 12 105605039 105605039 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 105605039 105605039 A G SNP APPL2 ENST00000551662 human ensembl 69_37n -1 known silent c.342 p.P114 0.385 NULL pfam_PTyr_interaction_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTyr_interaction_dom,pfscan_Pleckstrin_homology,pfscan_PTyr_interaction_dom - no_errors APPL2 HGNC ENSG00000136044 117 0 0.00 90 65 41.94 - - - ARFIP1 0 genome.wustl.edu 37 4 153802234 153802234 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 153802234 153802234 A G SNP ARFIP1 ENST00000353617 human ensembl 69_37n +1 known silent c.531 p.K177 1.000 pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom - no_errors ARFIP1 HGNC ENSG00000164144 50 0 0.00 53 7 11.67 - - - ARHGEF10L 0 genome.wustl.edu 37 1 17914103 17914103 + Frame_Shift_Del DEL C C - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 17914103 17914103 C - DEL ARHGEF10L ENST00000361221 human ensembl 69_37n +1 known frame_shift_del c.186 p.P64fs 0.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF10L HGNC ENSG00000074964 79 0 0.00 38 21 34.43 - - - ARHGEF11 0 genome.wustl.edu 37 1 156910105 156910105 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 156910105 156910105 T C SNP ARHGEF11 ENST00000368194 human ensembl 69_37n -1 known silent c.3627 p.T1209 0.027 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 91 0 0.00 120 20 14.29 - - - ARHGEF17 0 genome.wustl.edu 37 11 73021526 73021527 + Frame_Shift_Ins INS - - C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 73021526 73021527 - C INS ARHGEF17 ENST00000263674 human ensembl 69_37n +1 known frame_shift_ins c.1843_1844 p.G618fs 0.011:0.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 54 0 0.00 41 27 39.71 - - - ARHGEF17 0 genome.wustl.edu 37 11 73073179 73073179 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 73073179 73073179 T A SNP ARHGEF17 ENST00000263674 human ensembl 69_37n +1 known missense c.4589 p.L1530Q 1.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 19 0 0.00 11 8 42.11 - - - ARHGEF9 0 genome.wustl.edu 37 X 62944456 62944456 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 62944456 62944456 G T SNP ARHGEF9 ENST00000253401 human ensembl 69_37n -1 known missense c.145 p.Q49K 1.000 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF9 HGNC ENSG00000131089 79 0 0.00 114 29 20.28 - - - ARID1B 0 genome.wustl.edu 37 6 157502124 157502124 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 157502124 157502124 A G SNP ARID1B ENST00000367148 human ensembl 69_37n +1 known missense c.3277 p.T1093A 1.000 superfamily_ARID/BRIGHT_DNA-bd pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 42 0 0.00 58 18 23.68 - - - ARSE 0 genome.wustl.edu 37 X 2852962 2852962 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 2852962 2852962 T C SNP ARSE ENST00000545496 human ensembl 69_37n -1 known missense c.1756 p.R586G 0.000 superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSE HGNC ENSG00000157399 91 0 0.00 97 26 21.14 - - - AS3MT 0 genome.wustl.edu 37 10 104634356 104634356 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 104634356 104634356 T G SNP AS3MT ENST00000369880 human ensembl 69_37n +1 known missense c.466 p.C156G 1.000 pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_12,pfam_Methyltransferase-rel pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransf_12,pfam_PCMT,pfam_Methyltransferase-rel - no_errors AS3MT HGNC ENSG00000214435 133 0 0.00 179 45 20.00 - - - ASB1 0 genome.wustl.edu 37 2 239353276 239353276 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 239353276 239353276 T C SNP ASB1 ENST00000264607 human ensembl 69_37n +1 known missense c.788 p.L263P 1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB1 HGNC ENSG00000065802 60 0 0.00 46 19 29.23 - - - ASIC3 0 genome.wustl.edu 37 7 150748931 150748931 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 150748931 150748931 G T SNP ASIC3 ENST00000297512 human ensembl 69_37n +1 known missense c.1249 p.A417S 1.000 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC3 HGNC ENSG00000213199 73 0 0.00 66 16 19.51 - - - ATG13 0 genome.wustl.edu 37 11 46667426 46667426 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 46667426 46667426 T C SNP ATG13 ENST00000312040 human ensembl 69_37n +1 known silent c.157 p.L53 0.991 pfam_Autophagy-rel_p13 pfam_Autophagy-rel_p13 - no_errors ATG13 HGNC ENSG00000175224 69 0 0.00 92 28 23.33 - - - ATG13 0 genome.wustl.edu 37 11 46667526 46667526 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 46667526 46667526 T G SNP ATG13 ENST00000312040 human ensembl 69_37n +1 known missense c.257 p.L86R 1.000 pfam_Autophagy-rel_p13 pfam_Autophagy-rel_p13 - no_errors ATG13 HGNC ENSG00000175224 109 0 0.00 119 40 25.16 - - - ATHL1 0 genome.wustl.edu 37 11 290715 290715 + Frame_Shift_Del DEL G G - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 290715 290715 G - DEL ATHL1 ENST00000409548 human ensembl 69_37n +1 known frame_shift_del c.508 p.P172fs 0.999 NULL pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like - no_errors ATHL1 HGNC ENSG00000142102 15 0 0.00 13 6 30.00 - - - ATP2B4 0 genome.wustl.edu 37 1 203690370 203690370 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 203690370 203690370 A G SNP ATP2B4 ENST00000357681 human ensembl 69_37n +1 known missense c.2644 p.M882V 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_PMCA pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2B4 HGNC ENSG00000058668 77 0 0.00 148 22 12.94 - - - ATP5O 0 genome.wustl.edu 37 21 35275852 35275852 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 21 35275852 35275852 C A SNP ATP5O ENST00000290299 human ensembl 69_37n -1 known missense c.620 p.R207M 0.921 pfam_ATPase_F1-cplx_OSCP/dsu,tigrfam_ATPase_F1-cplx_OSCP/dsu pfam_ATPase_F1-cplx_OSCP/dsu,superfamily_ATPase_OSCP/delta_N,prints_ATPase_F1-cplx_OSCP/dsu,tigrfam_ATPase_F1-cplx_OSCP/dsu - no_errors ATP5O HGNC ENSG00000241837 72 0 0.00 107 35 24.65 - - - ATP6AP1 0 genome.wustl.edu 37 X 153664078 153664078 + Nonsense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 153664078 153664078 T A SNP ATP6AP1 ENST00000369762 human ensembl 69_37n +1 known nonsense c.1254 p.C418* 0.996 pfam_BIG/ATPase_V1_suS1 pfam_BIG/ATPase_V1_suS1 - no_errors ATP6AP1 HGNC ENSG00000071553 121 1 0.81 139 18 11.32 - - - ATXN7L1 0 genome.wustl.edu 37 7 105516288 105516288 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 105516288 105516288 T - DEL ATXN7L1 ENST00000419735 human ensembl 69_37n -1 known frame_shift_del c.220 p.S74fs 1.000 NULL pfam_SCA7_dom - no_errors ATXN7L1 HGNC ENSG00000146776 249 0 0.00 243 99 28.70 - - - AWAT2 0 genome.wustl.edu 37 X 69269746 69269746 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 69269746 69269746 G A SNP AWAT2 ENST00000276101 human ensembl 69_37n -1 known silent c.37 p.L13 0.123 NULL pfam_DAGAT - no_errors AWAT2 HGNC ENSG00000147160 96 0 0.00 97 22 18.49 - - - AZIN1 0 genome.wustl.edu 37 8 103842085 103842085 + Silent SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 103842085 103842085 C A SNP AZIN1 ENST00000337198 human ensembl 69_37n -1 known silent c.984 p.L328 1.000 pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase - no_errors AZIN1 HGNC ENSG00000155096 116 0 0.00 183 43 19.03 - - - BAG6 0 genome.wustl.edu 37 6 31608186 31608186 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 31608186 31608186 T C SNP BAG6 ENST00000441793 human ensembl 69_37n -1 known missense c.452 p.N151S 0.825 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region BAG6 HGNC ENSG00000204463 13 0 0.00 15 13 46.43 - - - BAZ1B 0 genome.wustl.edu 37 7 72903631 72903631 + Missense_Mutation SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 72903631 72903631 A C SNP BAZ1B ENST00000339594 human ensembl 69_37n -1 known missense c.784 p.L262V 0.317 NULL pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1B HGNC ENSG00000009954 106 0 0.00 149 27 15.34 - - - BAZ2B 0 genome.wustl.edu 37 2 160189132 160189132 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 160189132 160189132 T C SNP BAZ2B ENST00000392783 human ensembl 69_37n -1 known silent c.5862 p.K1954 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger 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 93 0 0.00 90 29 24.17 - - - BCCIP 0 genome.wustl.edu 37 10 127522354 127522354 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 127522354 127522354 G A SNP BCCIP ENST00000368759 human ensembl 69_37n +1 known missense c.613 p.G205R 1.000 NULL NULL - no_errors BCCIP HGNC ENSG00000107949 64 0 0.00 65 29 30.85 - - - BCKDHA 0 genome.wustl.edu 37 19 41920064 41920064 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 41920064 41920064 T C SNP BCKDHA ENST00000269980 human ensembl 69_37n +1 known splice_site c.484+2 e4+2 1.000 - - - no_errors BCKDHA HGNC ENSG00000248098 13 0 0.00 13 5 27.78 - - - BCL10 0 genome.wustl.edu 37 1 85733330 85733330 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 85733330 85733330 G A SNP BCL10 ENST00000271015 human ensembl 69_37n -1 known missense c.682 p.R228C 1.000 NULL pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors BCL10 HGNC ENSG00000142867 48 0 0.00 67 21 23.60 - - - BCL2A1 0 genome.wustl.edu 37 15 80263166 80263166 + Missense_Mutation SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 80263166 80263166 A C SNP BCL2A1 ENST00000267953 human ensembl 69_37n -1 known missense c.296 p.L99R 0.457 pfam_Bcl2_BH,smart_Bcl2_BH,prints_Apop_reg_Bcl2Rel,prints_Bcl2_BH,pfscan_Bcl2-like_apoptosis pfam_Bcl2_BH,smart_Bcl2_BH,prints_Apop_reg_Bcl2Rel,prints_Bcl2_BH,pfscan_Bcl2-like_apoptosis - no_errors BCL2A1 HGNC ENSG00000140379 83 0 0.00 107 36 25.17 - - - BEND2 0 genome.wustl.edu 37 X 18192346 18192346 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 18192346 18192346 G A SNP BEND2 ENST00000380033 human ensembl 69_37n -1 known silent c.1785 p.N595 0.001 NULL pfam_BEN_domain - no_errors BEND2 HGNC ENSG00000177324 101 0 0.00 98 45 31.25 - - - BEND2 0 genome.wustl.edu 37 X 18221772 18221772 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 18221772 18221772 A G SNP BEND2 ENST00000380033 human ensembl 69_37n -1 known silent c.756 p.N252 0.000 NULL pfam_BEN_domain - no_errors BEND2 HGNC ENSG00000177324 103 1 0.96 135 42 23.73 - - - BEND6 0 genome.wustl.edu 37 6 56879963 56879963 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 56879963 56879963 T A SNP BEND6 ENST00000370746 human ensembl 69_37n +1 known missense c.331 p.L111M 0.927 NULL pfam_BEN_domain - no_errors BEND6 HGNC ENSG00000151917 111 0 0.00 113 89 44.06 - - - BEX2 0 genome.wustl.edu 37 X 102564877 102564877 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 102564877 102564877 T G SNP BEX2 ENST00000536889 human ensembl 69_37n -1 known missense c.124 p.N42H 0.000 NULL pfam_TF_A-like/BEX-like - no_errors BEX2 HGNC ENSG00000133134 50 0 0.00 63 7 10.00 - - - BGN 0 genome.wustl.edu 37 X 152773843 152773843 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 152773843 152773843 G A SNP BGN ENST00000331595 human ensembl 69_37n +1 known silent c.1047 p.P349 0.018 pirsf_SLRP_I_decor/aspor/byglycan pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pirsf_SLRP_I_decor/aspor/byglycan - no_errors BGN HGNC ENSG00000182492 46 0 0.00 41 14 25.45 - - - BMS1P4 0 genome.wustl.edu 37 10 75488206 75488208 + RNA DEL TCT TCT - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 75488206 75488208 TCT - DEL BMS1P4 ENST00000399449 human ensembl 69_37n -1 known rna NULL NULL 1.000:1.000:0.997 - - - no_errors RP11-464F9.1 Clone_based_vega_gene ENSG00000242288 47 0 0.00 61 15 19.48 - - - BNC1 0 genome.wustl.edu 37 15 83935797 83935798 + Frame_Shift_Ins INS - - G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 83935797 83935798 - G INS BNC1 ENST00000345382 human ensembl 69_37n -1 known frame_shift_ins c.226_225 p.M75fs 0.001:0.001 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 57 0 0.00 60 15 20.00 - - - BRAP 0 genome.wustl.edu 37 12 112117118 112117118 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 112117118 112117118 A T SNP BRAP ENST00000419234 human ensembl 69_37n -1 known missense c.470 p.V157E 1.000 pfam_BRAP2 pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP - no_errors BRAP HGNC ENSG00000089234 55 0 0.00 43 33 42.86 - - - BRD4 0 genome.wustl.edu 37 19 15366911 15366911 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 15366911 15366911 T - DEL BRD4 ENST00000263377 human ensembl 69_37n -1 known frame_shift_del c.1715 p.K572fs 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 493 0 0.00 555 156 21.67 - - - BRWD3 0 genome.wustl.edu 37 X 79939568 79939568 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 79939568 79939568 T C SNP BRWD3 ENST00000373275 human ensembl 69_37n -1 known missense c.4174 p.K1392E 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 97 0 0.00 127 36 22.09 - - - BTBD7 0 genome.wustl.edu 37 14 93761193 93761193 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 93761193 93761193 T - DEL BTBD7 ENST00000334746 human ensembl 69_37n -1 known frame_shift_del c.173 p.K58fs 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 41 0 0.00 47 13 21.67 - - - BTBD9 0 genome.wustl.edu 37 6 38562052 38562052 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 38562052 38562052 A G SNP BTBD9 ENST00000403056 human ensembl 69_37n -1 known silent c.237 p.P79 0.977 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_BTB/POZ_fold,superfamily_Galactose-bd-like,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD9 HGNC ENSG00000183826 54 0 0.00 87 24 21.62 - - - BUB1 0 genome.wustl.edu 37 2 111417597 111417597 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 111417597 111417597 T C SNP BUB1 ENST00000302759 human ensembl 69_37n -1 known missense c.1234 p.T412A 0.002 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors BUB1 HGNC ENSG00000169679 120 0 0.00 106 47 30.13 - - - C11orf34 0 genome.wustl.edu 37 11 112119652 112119652 + Missense_Mutation SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 112119652 112119652 A C SNP C11orf34 ENST00000338832 human ensembl 69_37n -1 known missense c.494 p.F165C 0.000 NULL NULL - no_errors C11orf34 HGNC ENSG00000188771 59 0 0.00 51 36 41.38 - - - C11orf58 0 genome.wustl.edu 37 11 16766217 16766217 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 16766217 16766217 A G SNP C11orf58 ENST00000228136 human ensembl 69_37n +1 known missense c.133 p.M45V 0.999 NULL NULL - no_errors C11orf58 HGNC ENSG00000110696 76 0 0.00 121 37 23.42 - - - C14orf101 0 genome.wustl.edu 37 14 57052487 57052487 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 57052487 57052487 T C SNP C14orf101 ENST00000261556 human ensembl 69_37n +1 known silent c.201 p.H67 1.000 pfam_DUF2723 pfam_DUF2723 - no_errors C14orf101 HGNC ENSG00000070269 183 1 0.54 139 84 37.67 - - - C15orf38 0 genome.wustl.edu 37 15 90454024 90454024 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 90454024 90454024 T C SNP C15orf38 ENST00000357484 human ensembl 69_37n -1 known silent c.120 p.E40 0.182 pfam_UPF0552 pfam_UPF0552 - no_errors C15orf38 HGNC ENSG00000242498 77 0 0.00 72 51 41.46 - - - C15orf39 0 genome.wustl.edu 37 15 75500456 75500456 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 75500456 75500456 T A SNP C15orf39 ENST00000565074 human ensembl 69_37n +1 known missense c.1672 p.W558R 0.007 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C15orf39 HGNC ENSG00000167173 95 0 0.00 50 44 46.32 - - - C17orf62 0 genome.wustl.edu 37 17 80403805 80403805 + Missense_Mutation SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 80403805 80403805 A C SNP C17orf62 ENST00000306645 human ensembl 69_37n -1 known missense c.233 p.V78G 0.628 NULL NULL - no_errors C17orf62 HGNC ENSG00000178927 74 0 0.00 105 34 24.29 - - - C17orf64 0 genome.wustl.edu 37 17 58506842 58506842 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 58506842 58506842 G A SNP C17orf64 ENST00000269127 human ensembl 69_37n +1 known silent c.549 p.R183 1.000 NULL NULL - no_errors C17orf64 HGNC ENSG00000141371 35 0 0.00 22 20 47.62 - - - C1RL 0 genome.wustl.edu 37 12 7249128 7249129 + Frame_Shift_Del DEL CA CA - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 7249128 7249129 CA - DEL C1RL ENST00000266542 human ensembl 69_37n -1 known frame_shift_del c.1323_1322 p.V441fs 0.835:0.797 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,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors C1RL HGNC ENSG00000139178 81 0 0.00 75 28 26.92 - - - C1orf222 0 genome.wustl.edu 37 1 1904475 1904475 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 1904475 1904475 T C SNP C1orf222 ENST00000270720 human ensembl 69_37n -1 known missense c.686 p.N229S 0.000 NULL NULL - no_errors C1orf222 HGNC ENSG00000142609 30 0 0.00 25 17 40.48 - - - C3 0 genome.wustl.edu 37 19 6697480 6697481 + Frame_Shift_Ins INS - - G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 6697480 6697481 - G INS C3 ENST00000245907 human ensembl 69_37n -1 known frame_shift_ins c.2671_2670 p.K890fs 0.022:0.014 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn - no_errors C3 HGNC ENSG00000125730 77 0 0.00 92 20 17.86 - - - C4orf27 0 genome.wustl.edu 37 4 170674878 170674878 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 170674878 170674878 A T SNP C4orf27 ENST00000393381 human ensembl 69_37n -1 known missense c.157 p.F53I 1.000 NULL pfam_DUF2228_C2H2_APLF-like - no_errors C4orf27 HGNC ENSG00000056050 80 0 0.00 60 31 34.07 - - - C7 0 genome.wustl.edu 37 5 40947909 40947909 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 40947909 40947909 T C SNP C7 ENST00000313164 human ensembl 69_37n +1 known missense c.944 p.V315A 0.995 pfam_MACPF,smart_MACPF pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 38 0 0.00 65 18 21.69 - - - C9orf114 0 genome.wustl.edu 37 9 131591120 131591120 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 131591120 131591120 T - DEL C9orf114 ENST00000361256 human ensembl 69_37n -1 known frame_shift_del c.102 p.K34fs 0.998 NULL pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like - no_errors C9orf114 HGNC ENSG00000198917 195 1 0.51 158 51 24.06 - - - C9orf135 0 genome.wustl.edu 37 9 72435881 72435881 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 72435881 72435881 G A SNP C9orf135 ENST00000377197 human ensembl 69_37n +1 known missense c.86 p.R29H 1.000 NULL NULL - no_errors C9orf135 HGNC ENSG00000204711 31 0 0.00 32 14 30.43 - - - CA14 0 genome.wustl.edu 37 1 150234561 150234561 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 150234561 150234561 A G SNP CA14 ENST00000369111 human ensembl 69_37n +1 known silent c.261 p.Q87 1.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA14 HGNC ENSG00000118298 37 0 0.00 59 16 20.78 - - - CACNA1D 0 genome.wustl.edu 37 3 53765136 53765136 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 53765136 53765136 A G SNP CACNA1D ENST00000288139 human ensembl 69_37n +1 known missense c.2429 p.K810R 0.991 prints_LVDCC_a1dsu pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 114 0 0.00 71 39 35.45 - - - CADM4 0 genome.wustl.edu 37 19 44127494 44127494 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 44127494 44127494 T C SNP CADM4 ENST00000222374 human ensembl 69_37n -1 known silent c.1155 p.E385 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like - no_errors CADM4 HGNC ENSG00000105767 69 0 0.00 80 34 29.82 - - - CAMSAP2 0 genome.wustl.edu 37 1 200817995 200817995 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 200817995 200817995 A G SNP CAMSAP2 ENST00000236925 human ensembl 69_37n +1 known missense c.2131 p.T711A 0.924 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 18 0 0.00 39 15 27.78 - - - CAPN1 0 genome.wustl.edu 37 11 64978304 64978304 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 64978304 64978304 C A SNP CAPN1 ENST00000279247 human ensembl 69_37n +1 known missense c.2079 p.D693E 1.000 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 CAPN1 HGNC ENSG00000014216 135 0 0.00 146 54 27.00 - - - CARD14 0 genome.wustl.edu 37 17 78182035 78182035 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 78182035 78182035 G A SNP CARD14 ENST00000344227 human ensembl 69_37n +1 known missense c.2906 p.S969N 1.000 pfscan_Guanylate_kin pfam_CARD,superfamily_DEATH-like,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin - no_errors CARD14 HGNC ENSG00000141527 21 0 0.00 29 9 23.68 - - - CASKIN2 0 genome.wustl.edu 37 17 73503687 73503687 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 73503687 73503687 A G SNP CASKIN2 ENST00000321617 human ensembl 69_37n -1 known silent c.222 p.T74 0.126 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain - no_errors CASKIN2 HGNC ENSG00000177303 53 0 0.00 56 13 18.84 - - - CASQ1 0 genome.wustl.edu 37 1 160168503 160168503 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 160168503 160168503 G A SNP CASQ1 ENST00000368078 human ensembl 69_37n +1 known missense c.865 p.A289T 1.000 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ1 HGNC ENSG00000143318 105 0 0.00 130 18 12.16 - - - CATSPER2 0 genome.wustl.edu 37 15 43927354 43927354 + Splice_Site DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 43927354 43927354 T - DEL CATSPER2 ENST00000419262 human ensembl 69_37n -1 known splice_site_del c.34-2 e2-2 0.002 - - - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CATSPER2 HGNC ENSG00000166762 20 0 0.00 20 12 33.33 - - - CATSPER3 0 genome.wustl.edu 37 5 134347285 134347285 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 134347285 134347285 A G SNP CATSPER3 ENST00000282611 human ensembl 69_37n +1 known missense c.1169 p.Q390R 0.000 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER3 HGNC ENSG00000152705 78 0 0.00 44 38 46.34 - - - CCDC132 0 genome.wustl.edu 37 7 92883184 92883184 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 92883184 92883184 T C SNP CCDC132 ENST00000305866 human ensembl 69_37n +1 known silent c.237 p.P79 1.000 pfam_Vacuolar_sorting-assoc_54 pfam_Vacuolar_sorting-assoc_54,pfam_DUF2451_C - no_errors CCDC132 HGNC ENSG00000004766 41 0 0.00 54 15 21.74 - - - CCDC135 0 genome.wustl.edu 37 16 57752315 57752315 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 57752315 57752315 T C SNP CCDC135 ENST00000360716 human ensembl 69_37n +1 known silent c.1134 p.T378 0.002 NULL NULL - no_errors CCDC135 HGNC ENSG00000159625 89 0 0.00 103 53 33.97 - - - CCDC147 0 genome.wustl.edu 37 10 106163505 106163505 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 106163505 106163505 G A SNP CCDC147 ENST00000369704 human ensembl 69_37n +1 known missense c.2058 p.M686I 1.000 NULL superfamily_Homeodomain-like - no_errors CCDC147 HGNC ENSG00000120051 47 0 0.00 55 14 20.29 - - - CCDC158 0 genome.wustl.edu 37 4 77305430 77305430 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 77305430 77305430 C T SNP CCDC158 ENST00000388914 human ensembl 69_37n -1 known missense c.537 p.M179I 1.000 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 80 0 0.00 64 55 45.83 - - - CCDC164 0 genome.wustl.edu 37 2 26676213 26676213 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 26676213 26676213 T C SNP CCDC164 ENST00000288710 human ensembl 69_37n +1 known missense c.1715 p.M572T 0.000 NULL NULL - no_errors CCDC164 HGNC ENSG00000157856 59 0 0.00 55 31 36.05 - - - CCDC61 0 genome.wustl.edu 37 19 46520507 46520507 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 46520507 46520507 G A SNP CCDC61 ENST00000263284 human ensembl 69_37n +1 known missense c.1370 p.G457D 0.000 NULL NULL - no_errors CCDC61 HGNC ENSG00000104983 54 0 0.00 30 17 35.42 - - - CCDC66 0 genome.wustl.edu 37 3 56605270 56605271 + Frame_Shift_Ins INS - - A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 56605270 56605271 - A INS CCDC66 ENST00000394672 human ensembl 69_37n +1 known frame_shift_ins c.876_877 p.S294fs 1.000:0.989 NULL NULL - no_errors CCDC66 HGNC ENSG00000180376 36 0 0.00 29 18 38.30 - - - CCNT1 0 genome.wustl.edu 37 12 49086842 49086842 + Missense_Mutation SNP G G C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 49086842 49086842 G C SNP CCNT1 ENST00000261900 human ensembl 69_37n -1 known missense c.2155 p.P719A 1.000 NULL pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNT1 HGNC ENSG00000129315 43 0 0.00 37 18 32.73 - - - CCT6B 0 genome.wustl.edu 37 17 33288280 33288280 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 33288280 33288280 T C SNP CCT6B ENST00000314144 human ensembl 69_37n -1 known missense c.133 p.K45E 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6B HGNC ENSG00000132141 12 0 0.00 14 11 44.00 - - - CD163 0 genome.wustl.edu 37 12 7640574 7640574 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 7640574 7640574 T C SNP CD163 ENST00000359156 human ensembl 69_37n -1 known silent c.1530 p.E510 0.961 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors CD163 HGNC ENSG00000177575 54 0 0.00 67 33 33.00 - - - CD164L2 0 genome.wustl.edu 37 1 27706607 27706607 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 27706607 27706607 C T SNP CD164L2 ENST00000374030 human ensembl 69_37n -1 known missense c.452 p.S151N 1.000 pfam_CD164_MGC24 pfam_CD164_MGC24 - no_errors CD164L2 HGNC ENSG00000174950 94 0 0.00 81 39 32.50 - - - CD5 0 genome.wustl.edu 37 11 60886845 60886845 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 60886845 60886845 C T SNP CD5 ENST00000347785 human ensembl 69_37n +1 known silent c.603 p.C201 0.020 superfamily_Srcr_rcpt-rel,prints_Tcell_CD5,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Tcell_CD5,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors CD5 HGNC ENSG00000110448 29 0 0.00 22 15 40.54 - - - CDH20 0 genome.wustl.edu 37 18 59166695 59166695 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 18 59166695 59166695 C T SNP CDH20 ENST00000262717 human ensembl 69_37n +1 known missense c.523 p.P175S 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 46 0 0.00 56 23 29.11 - - - CDK18 0 genome.wustl.edu 37 1 205499815 205499815 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 205499815 205499815 T C SNP CDK18 ENST00000506784 human ensembl 69_37n +1 known silent c.1462 p.L488 0.978 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors CDK18 HGNC ENSG00000117266 45 0 0.00 66 20 23.26 - - - CEL 0 genome.wustl.edu 37 9 135946438 135946438 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 135946438 135946438 G T SNP CEL ENST00000372080 human ensembl 69_37n +1 known missense c.1558 p.G520C 0.008 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 40 0 0.00 46 7 13.21 - - - CELSR1 0 genome.wustl.edu 37 22 46762904 46762904 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 22 46762904 46762904 C T SNP CELSR1 ENST00000262738 human ensembl 69_37n -1 known missense c.8191 p.A2731T 1.000 NULL 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 CELSR1 HGNC ENSG00000075275 20 0 0.00 7 10 58.82 - - - CEP350 0 genome.wustl.edu 37 1 179985072 179985072 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 179985072 179985072 T A SNP CEP350 ENST00000367607 human ensembl 69_37n +1 known missense c.2141 p.M714K 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain - no_errors CEP350 HGNC ENSG00000135837 51 0 0.00 73 15 17.05 - - - CEP44 0 genome.wustl.edu 37 4 175229894 175229894 + Missense_Mutation SNP G G C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 175229894 175229894 G C SNP CEP44 ENST00000426172 human ensembl 69_37n +1 known missense c.562 p.E188Q 0.025 NULL NULL - no_errors CEP44 HGNC ENSG00000164118 76 0 0.00 72 43 37.39 - - - CEP89 0 genome.wustl.edu 37 19 33378730 33378730 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 33378730 33378730 A G SNP CEP89 ENST00000305768 human ensembl 69_37n -1 known silent c.1893 p.S631 0.985 NULL NULL - no_errors CEP89 HGNC ENSG00000121289 128 0 0.00 139 48 25.40 - - - CHP2 0 genome.wustl.edu 37 16 23767738 23767738 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 23767738 23767738 G A SNP CHP2 ENST00000300113 human ensembl 69_37n +1 known missense c.382 p.D128N 0.997 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CHP2 HGNC ENSG00000166869 61 0 0.00 96 24 20.00 - - - CHRM4 0 genome.wustl.edu 37 11 46408063 46408063 + Silent SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 46408063 46408063 G T SNP CHRM4 ENST00000433765 human ensembl 69_37n -1 known silent c.45 p.S15 0.973 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Musac_M4_rcpt - no_errors CHRM4 HGNC ENSG00000180720 42 0 0.00 49 13 20.97 - - - CHSY1 0 genome.wustl.edu 37 15 101718063 101718063 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 101718063 101718063 T C SNP CHSY1 ENST00000254190 human ensembl 69_37n -1 known missense c.1939 p.N647D 0.998 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY1 HGNC ENSG00000131873 28 0 0.00 83 17 17.00 - - - CIITA 0 genome.wustl.edu 37 16 11016271 11016271 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 11016271 11016271 T C SNP CIITA ENST00000324288 human ensembl 69_37n +1 known missense c.3241 p.Y1081H 1.000 smart_Leu-rich_rpt_RNase_inh_sub-typ smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 61 0 0.00 31 17 35.42 - - - CKAP5 0 genome.wustl.edu 37 11 46799048 46799048 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 46799048 46799048 T G SNP CKAP5 ENST00000415402 human ensembl 69_37n -1 known missense c.2803 p.I935L 0.980 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 142 0 0.00 189 76 28.68 - - - CLCN3 0 genome.wustl.edu 37 4 170634376 170634376 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 170634376 170634376 A G SNP CLCN3 ENST00000347613 human ensembl 69_37n +1 known missense c.2296 p.T766A 1.000 pfam_Cysta_beta_synth_core,smart_Cysta_beta_synth_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-3 - no_errors CLCN3 HGNC ENSG00000109572 77 0 0.00 46 27 36.49 - - - CLEC17A 0 genome.wustl.edu 37 19 14705311 14705311 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 14705311 14705311 T C SNP CLEC17A ENST00000397439 human ensembl 69_37n +1 known missense c.209 p.L70P 0.001 NULL superfamily_C-type_lectin_fold - no_errors CLEC17A HGNC ENSG00000187912 130 0 0.00 130 40 23.53 - - - CLK2 0 genome.wustl.edu 37 1 155236644 155236644 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 155236644 155236644 G T SNP CLK2 ENST00000368361 human ensembl 69_37n -1 known missense c.714 p.H238Q 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 CLK2 HGNC ENSG00000176444 108 0 0.00 177 47 20.98 - - - CMTM2 0 genome.wustl.edu 37 16 66620992 66620992 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 66620992 66620992 A G SNP CMTM2 ENST00000268595 human ensembl 69_37n +1 known silent c.537 p.L179 0.000 NULL NULL - no_errors CMTM2 HGNC ENSG00000140932 161 0 0.00 172 41 19.16 - - - CNOT8 0 genome.wustl.edu 37 5 154244839 154244839 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 154244839 154244839 G A SNP CNOT8 ENST00000285896 human ensembl 69_37n +1 known missense c.205 p.V69I 1.000 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,superfamily_RNaseH-like_dom - no_errors CNOT8 HGNC ENSG00000155508 103 0 0.00 64 50 43.86 - - - CNST 0 genome.wustl.edu 37 1 246755180 246755180 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 246755180 246755180 A - DEL CNST ENST00000366513 human ensembl 69_37n +1 known frame_shift_del c.316 p.I108fs 0.913 NULL NULL - no_errors CNST HGNC ENSG00000162852 29 0 0.00 52 9 14.75 - - - CNTN1 0 genome.wustl.edu 37 12 41337525 41337525 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 41337525 41337525 A G SNP CNTN1 ENST00000347616 human ensembl 69_37n +1 known silent c.1506 p.T502 1.000 smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN1 HGNC ENSG00000018236 61 0 0.00 79 29 26.61 - - - COG1 0 genome.wustl.edu 37 17 71204484 71204484 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 71204484 71204484 A G SNP COG1 ENST00000299886 human ensembl 69_37n +1 known missense c.2837 p.D946G 0.997 NULL pfam_Vps51 - no_errors COG1 HGNC ENSG00000166685 86 0 0.00 62 27 28.72 - - - COL18A1 0 genome.wustl.edu 37 21 46896297 46896297 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 21 46896297 46896297 A G SNP COL18A1 ENST00000359759 human ensembl 69_37n +1 known silent c.2076 p.P692 0.438 NULL pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom - no_errors COL18A1 HGNC ENSG00000182871 56 0 0.00 50 19 26.39 - - - COL9A1 0 genome.wustl.edu 37 6 70935663 70935663 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 70935663 70935663 G A SNP COL9A1 ENST00000357250 human ensembl 69_37n -1 known silent c.2553 p.N851 0.998 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 60 0 0.00 39 42 51.85 - - - COX15 0 genome.wustl.edu 37 10 101486835 101486835 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 101486835 101486835 G T SNP COX15 ENST00000016171 human ensembl 69_37n -1 known missense c.472 p.L158I 0.212 pfam_HemeA_syn pfam_HemeA_syn,superfamily_Pept_cys/ser_Trypsin-like - no_errors COX15 HGNC ENSG00000014919 78 0 0.00 63 35 35.71 - - - CPSF2 0 genome.wustl.edu 37 14 92627467 92627467 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 92627467 92627467 T C SNP CPSF2 ENST00000555244 human ensembl 69_37n +1 novel missense c.683 p.I228T 0.825 NULL pfam_RMMBL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CPSF2 HGNC ENSG00000165934 147 0 0.00 179 40 18.26 - - - CPSF3L 0 genome.wustl.edu 37 1 1256437 1256437 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 1256437 1256437 A G SNP CPSF3L ENST00000540437 human ensembl 69_37n -1 known missense c.83 p.V28A 1.000 pfam_Beta-lactamas-like,smart_Beta-lactamas-like pfam_Beta_Casp,pfam_Beta-lactamas-like,pfam_RMMBL,smart_Beta-lactamas-like - no_errors CPSF3L HGNC ENSG00000127054 34 0 0.00 20 16 43.24 - - - CPSF7 0 genome.wustl.edu 37 11 61178488 61178488 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 61178488 61178488 T C SNP CPSF7 ENST00000340437 human ensembl 69_37n -1 known missense c.1472 p.H491R 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF7 HGNC ENSG00000149532 60 0 0.00 40 22 34.92 - - - CPXM2 0 genome.wustl.edu 37 10 125521487 125521487 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 125521487 125521487 G A SNP CPXM2 ENST00000241305 human ensembl 69_37n -1 known missense c.1678 p.R560C 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 44 0 0.00 47 19 28.79 - - - CREBBP 0 genome.wustl.edu 37 16 3781803 3781803 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 3781803 3781803 A G SNP CREBBP ENST00000262367 human ensembl 69_37n -1 known missense c.4864 p.Y1622H 1.000 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 450 1 0.22 250 191 43.31 - - - CRLF3 0 genome.wustl.edu 37 17 29123191 29123191 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 29123191 29123191 A G SNP CRLF3 ENST00000324238 human ensembl 69_37n -1 known missense c.590 p.V197A 0.998 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF3 HGNC ENSG00000176390 77 0 0.00 65 15 18.75 - - - CRLS1 0 genome.wustl.edu 37 20 6012717 6012717 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 6012717 6012717 C A SNP CRLS1 ENST00000378863 human ensembl 69_37n +1 known missense c.720 p.F240L 1.000 NULL pfam_CDP-OH_P_trans - no_errors CRLS1 HGNC ENSG00000088766 126 0 0.00 75 53 41.41 - - - CRMP1 0 genome.wustl.edu 37 4 5827261 5827261 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 5827261 5827261 T - DEL CRMP1 ENST00000324989 human ensembl 69_37n -1 known frame_shift_del c.1929 p.I645fs 0.511 NULL pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 193 0 0.00 154 83 33.20 - - - CRYL1 0 genome.wustl.edu 37 13 20987466 20987466 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 13 20987466 20987466 A G SNP CRYL1 ENST00000298248 human ensembl 69_37n -1 known missense c.694 p.Y232H 0.999 pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like - no_errors CRYL1 HGNC ENSG00000165475 78 0 0.00 62 36 36.36 - - - CRYM 0 genome.wustl.edu 37 16 21288836 21288836 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 21288836 21288836 G A SNP CRYM ENST00000219599 human ensembl 69_37n -1 known silent c.240 p.Y80 0.995 pfam_ODC_Mu_crystall pfam_ODC_Mu_crystall,pfam_Shikm_DH/Glu-tRNA_Rdtase,pfam_6PGDH_NADP-bd,pfam_NADP_OxRdtase_F420 - no_errors CRYM HGNC ENSG00000103316 43 0 0.00 35 13 27.08 - - - CSF2RA 0 genome.wustl.edu 37 X 1428338 1428338 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 1428338 1428338 G A SNP CSF2RA ENST00000417535 human ensembl 69_37n +1 known missense c.1271 p.R424H 0.000 NULL pfam_IL6_recept-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 125 0 0.00 123 49 28.49 - - - CSMD3 0 genome.wustl.edu 37 8 113323267 113323267 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 113323267 113323267 C T SNP CSMD3 ENST00000297405 human ensembl 69_37n -1 known missense c.7825 p.V2609M 0.993 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 68 0 0.00 76 20 20.83 - - - CSNK1E 0 genome.wustl.edu 37 22 38694881 38694881 + Missense_Mutation SNP G G C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 22 38694881 38694881 G C SNP CSNK1E ENST00000359867 human ensembl 69_37n -1 known missense c.795 p.D265E 1.000 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 CSNK1E HGNC ENSG00000213923 97 0 0.00 76 24 24.00 - - - CSRP2BP 0 genome.wustl.edu 37 20 18131569 18131569 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 18131569 18131569 T - DEL CSRP2BP ENST00000278816 human ensembl 69_37n +1 known frame_shift_del c.483 p.L163fs 0.823 NULL pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 97 0 0.00 85 50 37.04 - - - CSRP2BP 0 genome.wustl.edu 37 20 18165347 18165347 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 18165347 18165347 T C SNP CSRP2BP ENST00000278816 human ensembl 69_37n +1 known missense c.2086 p.Y696H 1.000 pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors CSRP2BP HGNC ENSG00000149474 138 0 0.00 123 84 40.58 - - - CSTF1 0 genome.wustl.edu 37 20 54978696 54978696 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 54978696 54978696 A G SNP CSTF1 ENST00000217109 human ensembl 69_37n +1 known missense c.1209 p.I403M 0.174 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CSTF1 HGNC ENSG00000101138 69 0 0.00 100 32 24.24 - - - CSTF3 0 genome.wustl.edu 37 11 33108677 33108677 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 33108677 33108677 C T SNP CSTF3 ENST00000323959 human ensembl 69_37n -1 known missense c.1652 p.R551H 1.000 pfam_Suf pfam_Suf,smart_HAT - no_errors CSTF3 HGNC ENSG00000176102 110 0 0.00 108 50 31.65 - - - CSTF3 0 genome.wustl.edu 37 11 33113848 33113848 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 33113848 33113848 T G SNP CSTF3 ENST00000323959 human ensembl 69_37n -1 known missense c.1414 p.T472P 1.000 pfam_Suf,smart_HAT pfam_Suf,smart_HAT - no_errors CSTF3 HGNC ENSG00000176102 118 0 0.00 144 45 23.81 - - - CTBP2 0 genome.wustl.edu 37 10 126682516 126682516 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 126682516 126682516 G A SNP CTBP2 ENST00000309035 human ensembl 69_37n -1 known silent c.2439 p.G813 0.012 pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 32 0 0.00 27 15 35.71 - - - CUL1 0 genome.wustl.edu 37 7 148463718 148463718 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 148463718 148463718 T C SNP CUL1 ENST00000325222 human ensembl 69_37n +1 known silent c.855 p.D285 0.998 pfam_Cullin_N,superfamily_Cullin_repeat-like_dom pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 36 0 0.00 32 11 25.58 - - - CUL2 0 genome.wustl.edu 37 10 35318555 35318555 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 35318555 35318555 T A SNP CUL2 ENST00000537177 human ensembl 69_37n -1 known missense c.1457 p.Y486F 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL2 HGNC ENSG00000108094 60 0 0.00 61 21 25.61 - - - CUL7 0 genome.wustl.edu 37 6 43018852 43018852 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 43018852 43018852 A G SNP CUL7 ENST00000535468 human ensembl 69_37n -1 known missense c.1339 p.F447L 1.000 pfam_CPH_domain pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 77 0 0.00 85 13 13.27 - - - CXCR4 0 genome.wustl.edu 37 2 136873066 136873066 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 136873066 136873066 A T SNP CXCR4 ENST00000409817 human ensembl 69_37n -1 known missense c.444 p.S148R 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXCR4 pfam_7TM_GPCR_Rhodpsn,pfam_Chemokine_CXCR4_N,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXCR4,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CXCR4 HGNC ENSG00000121966 101 0 0.00 149 35 19.02 - - - CXorf22 0 genome.wustl.edu 37 X 35984797 35984797 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 35984797 35984797 T C SNP CXorf22 ENST00000297866 human ensembl 69_37n +1 known missense c.1526 p.F509S 0.951 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 114 0 0.00 146 48 24.74 - - - CYLC1 0 genome.wustl.edu 37 X 83128683 83128683 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 83128683 83128683 A - DEL CYLC1 ENST00000329312 human ensembl 69_37n +1 known frame_shift_del c.967 p.K324fs 0.011 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 41 0 0.00 38 14 26.42 - - - CYP26B1 0 genome.wustl.edu 37 2 72362450 72362450 + Frame_Shift_Del DEL G G - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 72362450 72362450 G - DEL CYP26B1 ENST00000001146 human ensembl 69_37n -1 known frame_shift_del c.528 p.E177fs 0.036 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_B,prints_Cyt_P450 - no_errors CYP26B1 HGNC ENSG00000003137 36 0 0.00 33 11 25.00 - - - CYP2S1 0 genome.wustl.edu 37 19 41707175 41707175 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 41707175 41707175 A G SNP CYP2S1 ENST00000310054 human ensembl 69_37n +1 known missense c.874 p.M292V 0.696 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B - no_errors CYP2S1 HGNC ENSG00000167600 65 0 0.00 79 30 27.52 - - - CYP39A1 0 genome.wustl.edu 37 6 46563859 46563859 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 46563859 46563859 T C SNP CYP39A1 ENST00000275016 human ensembl 69_37n -1 known splice_site c.932-2 e8-2 1.000 - - - no_errors CYP39A1 HGNC ENSG00000146233 81 0 0.00 81 52 39.10 - - - CYP3A5 0 genome.wustl.edu 37 7 99247813 99247813 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 99247813 99247813 T C SNP CYP3A5 ENST00000222982 human ensembl 69_37n -1 known silent c.1296 p.T432 0.776 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A5 HGNC ENSG00000106258 280 1 0.35 372 111 22.89 - - - CYTIP 0 genome.wustl.edu 37 2 158300407 158300407 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 158300407 158300407 A G SNP CYTIP ENST00000264192 human ensembl 69_37n -1 known silent c.126 p.I42 0.998 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors CYTIP HGNC ENSG00000115165 92 0 0.00 124 62 33.33 - - - DAAM1 0 genome.wustl.edu 37 14 59789672 59789672 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 59789672 59789672 T C SNP DAAM1 ENST00000351081 human ensembl 69_37n +1 known missense c.503 p.M168T 1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_Actin-bd_FH2/DRF_autoreg - no_errors DAAM1 HGNC ENSG00000100592 94 0 0.00 70 36 33.96 - - - DAPK1 0 genome.wustl.edu 37 9 90114005 90114005 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 90114005 90114005 A G SNP DAPK1 ENST00000469640 human ensembl 69_37n +1 known missense c.13 p.R5G 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 129 0 0.00 158 20 11.24 - - - DCAF4 0 genome.wustl.edu 37 14 73408476 73408476 + Silent SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 73408476 73408476 A T SNP DCAF4 ENST00000358377 human ensembl 69_37n +1 known silent c.375 p.A125 0.839 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4 HGNC ENSG00000119599 112 0 0.00 92 55 37.41 - - - DCDC1 0 genome.wustl.edu 37 11 31287064 31287064 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 31287064 31287064 A G SNP DCDC1 ENST00000452803 human ensembl 69_37n -1 known silent c.1044 p.D348 0.927 superfamily_Doublecortin_dom superfamily_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors DCDC1 HGNC ENSG00000188682 50 0 0.00 57 19 25.00 - - - DCST2 0 genome.wustl.edu 37 1 154999032 154999032 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 154999032 154999032 A T SNP DCST2 ENST00000368424 human ensembl 69_37n -1 known missense c.1502 p.I501K 0.001 pfam_DC_STAMP-like pfam_DC_STAMP-like - no_errors DCST2 HGNC ENSG00000163354 31 0 0.00 31 11 26.19 - - - DCTN2 0 genome.wustl.edu 37 12 57924554 57924554 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 57924554 57924554 T C SNP DCTN2 ENST00000434715 human ensembl 69_37n -1 known missense c.1139 p.Q380R 1.000 pfam_Dynamitin_2su pfam_Dynamitin_2su - no_errors DCTN2 HGNC ENSG00000175203 141 0 0.00 110 70 38.89 - - - DCUN1D2 0 genome.wustl.edu 37 13 114138363 114138363 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 13 114138363 114138363 A G SNP DCUN1D2 ENST00000438545 human ensembl 69_37n -1 known missense c.185 p.L62S 0.928 superfamily_UBA-like pfam_PONY_dom,superfamily_UBA-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DCUN1D2 HGNC ENSG00000150401 39 0 0.00 31 26 45.61 - - - DDHD2 0 genome.wustl.edu 37 8 38117571 38117571 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 38117571 38117571 A G SNP DDHD2 ENST00000397166 human ensembl 69_37n +1 known missense c.2068 p.T690A 1.000 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfam_WWE-dom,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD,pfscan_WWE-dom - no_errors DDHD2 HGNC ENSG00000085788 173 0 0.00 188 86 31.27 - - - DDX39B 0 genome.wustl.edu 37 6 31498878 31498878 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 31498878 31498878 A G SNP DDX39B ENST00000417023 human ensembl 69_37n -1 putative missense c.365 p.L122S 0.797 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C - no_start_codon:pseudogene:no_stop_codon DDX39B HGNC ENSG00000198563 65 0 0.00 58 31 34.83 - - - DDX41 0 genome.wustl.edu 37 5 176939145 176939145 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 176939145 176939145 C T SNP DDX41 ENST00000507955 human ensembl 69_37n -1 known missense c.1684 p.V562M 1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_Znf_CCHC,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX41 HGNC ENSG00000183258 33 0 0.00 33 19 36.54 - - - DDX58 0 genome.wustl.edu 37 9 32487531 32487531 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 32487531 32487531 A G SNP DDX58 ENST00000379883 human ensembl 69_37n -1 known missense c.1313 p.V438A 0.994 smart_Helicase_ATP-bd pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_DEATH-like,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 55 0 0.00 117 29 19.86 - - - DENND4B 0 genome.wustl.edu 37 1 153914686 153914686 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 153914686 153914686 G A SNP DENND4B ENST00000361217 human ensembl 69_37n -1 known missense c.787 p.L263F 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 56 0 0.00 59 17 22.37 - - - DGKE 0 genome.wustl.edu 37 17 54939578 54939578 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 54939578 54939578 A T SNP DGKE ENST00000284061 human ensembl 69_37n +1 known missense c.1490 p.N497I 1.000 pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKE HGNC ENSG00000153933 72 0 0.00 82 16 16.33 - - - DGKK 0 genome.wustl.edu 37 X 50135430 50135430 + RNA SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 50135430 50135430 T C SNP DGKK ENST00000376025 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors DGKK HGNC ENSG00000204466 49 0 0.00 61 14 18.67 - - - DHRS7B 0 genome.wustl.edu 37 17 21087713 21087713 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 21087713 21087713 C A SNP DHRS7B ENST00000395511 human ensembl 69_37n +1 known missense c.556 p.Q186K 0.007 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_DUF1776_fun,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_DUF1776_fun,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7B HGNC ENSG00000109016 65 0 0.00 58 17 22.67 - - - DIDO1 0 genome.wustl.edu 37 20 61542836 61542836 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 61542836 61542836 C T SNP DIDO1 ENST00000266070 human ensembl 69_37n -1 known silent c.129 p.A43 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 59 0 0.00 33 16 32.65 - - - DIP2C 0 genome.wustl.edu 37 10 395333 395333 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 395333 395333 A G SNP DIP2C ENST00000280886 human ensembl 69_37n -1 known missense c.3047 p.V1016A 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 60 0 0.00 84 22 20.75 - - - DIRAS1 0 genome.wustl.edu 37 19 2717406 2717406 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 2717406 2717406 G A SNP DIRAS1 ENST00000323469 human ensembl 69_37n -1 known silent c.399 p.R133 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS1 HGNC ENSG00000176490 42 0 0.00 39 8 17.02 - - - DIS3L 0 genome.wustl.edu 37 15 66613033 66613033 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 66613033 66613033 A - DEL DIS3L ENST00000319212 human ensembl 69_37n +1 known frame_shift_del c.1289 p.N431fs 1.000 NULL pfam_RNase_II/R,smart_RNase_II/R - no_errors DIS3L HGNC ENSG00000166938 134 0 0.00 189 85 30.80 - - - DLAT 0 genome.wustl.edu 37 11 111904183 111904183 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 111904183 111904183 A - DEL DLAT ENST00000280346 human ensembl 69_37n +1 known frame_shift_del c.716 p.V242fs 1.000 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl,tigrfam_AcTrfase_Pyrv_DH_cplx_L pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_AcTrfase_Pyrv_DH_cplx_L - no_errors DLAT HGNC ENSG00000150768 68 0 0.00 54 20 26.67 - - - DLC1 0 genome.wustl.edu 37 8 12957700 12957700 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 12957700 12957700 T A SNP DLC1 ENST00000276297 human ensembl 69_37n -1 known missense c.2146 p.I716F 1.000 NULL pfam_START_lipid-bd,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd,pfscan_START_lipid-bd,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 51 0 0.00 56 33 37.08 - - - DLGAP1 0 genome.wustl.edu 37 18 3879223 3879223 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 18 3879223 3879223 C T SNP DLGAP1 ENST00000315677 human ensembl 69_37n -1 known silent c.846 p.T282 0.007 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 29 0 0.00 35 14 28.57 - - - DMD 0 genome.wustl.edu 37 X 31341728 31341728 + Missense_Mutation SNP G G C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 31341728 31341728 G C SNP DMD ENST00000357033 human ensembl 69_37n -1 known missense c.9211 p.P3071A 1.000 pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pirsf_Dystrophin/utrophin,pfscan_WW_Rsp5_WWP pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 103 0 0.00 117 25 17.61 - - - DNAH12 0 genome.wustl.edu 37 3 57439118 57439118 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 57439118 57439118 A G SNP DNAH12 ENST00000351747 human ensembl 69_37n -1 known missense c.3400 p.Y1134H 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 90 0 0.00 58 52 46.85 - - - DNAH12 0 genome.wustl.edu 37 3 57496562 57496562 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 57496562 57496562 T A SNP DNAH12 ENST00000351747 human ensembl 69_37n -1 known missense c.424 p.N142Y 0.009 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 100 0 0.00 90 19 17.43 - - - DNAH17 0 genome.wustl.edu 37 17 76486797 76486798 + Frame_Shift_Ins INS - - G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 76486797 76486798 - G INS DNAH17 ENST00000389840 human ensembl 69_37n -1 known frame_shift_ins c.6760_6759 p.D2253fs 0.997:0.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 68 0 0.00 117 20 14.60 - - - DNAH2 0 genome.wustl.edu 37 17 7680816 7680816 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 7680816 7680816 T C SNP DNAH2 ENST00000389173 human ensembl 69_37n +1 known missense c.5111 p.I1704T 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 79 0 0.00 51 44 46.32 - - - DNAH8 0 genome.wustl.edu 37 6 38893841 38893841 + Frame_Shift_Del DEL G G - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 38893841 38893841 G - DEL DNAH8 ENST00000359357 human ensembl 69_37n +1 known frame_shift_del c.10322 p.L3443fs 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 65 0 0.00 73 48 39.34 - - - DNAJA4 0 genome.wustl.edu 37 15 78557162 78557164 + In_Frame_Del DEL GGA GGA - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 GGA GGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 78557162 78557164 GGA - DEL DNAJA4 ENST00000394855 human ensembl 69_37n +1 known in_frame_del c.144_146 p.E50in_frame_del 0.007:0.995:0.996 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_DnaJ_N,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_N,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_N,pfscan_DnaJ_N,pfscan_HSP_DnaJ_Cys-rich_dom,prints_Hsp_DnaJ - no_errors DNAJA4 HGNC ENSG00000140403 21 0 0.00 22 9 27.27 - - - DNAJA4 0 genome.wustl.edu 37 15 78568072 78568072 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 78568072 78568072 T C SNP DNAJA4 ENST00000394855 human ensembl 69_37n +1 known splice_site c.964+2 e6+2 0.999 - - - no_errors DNAJA4 HGNC ENSG00000140403 139 0 0.00 82 113 56.50 - - - DNAJC5B 0 genome.wustl.edu 37 8 66988984 66988984 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 66988984 66988984 T C SNP DNAJC5B ENST00000276570 human ensembl 69_37n +1 known missense c.209 p.I70T 1.000 pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC5B HGNC ENSG00000147570 51 0 0.00 90 18 16.67 - - - DNHD1 0 genome.wustl.edu 37 11 6578697 6578697 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 6578697 6578697 T C SNP DNHD1 ENST00000254579 human ensembl 69_37n +1 known silent c.8172 p.N2724 0.394 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 26 0 0.00 41 10 19.61 - - - DNTTIP2 0 genome.wustl.edu 37 1 94342893 94342893 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 94342893 94342893 T C SNP DNTTIP2 ENST00000436063 human ensembl 69_37n -1 known missense c.598 p.T200A 0.000 NULL pfam_Fcf2 - no_errors DNTTIP2 HGNC ENSG00000067334 97 0 0.00 99 49 33.11 - - - DOCK8 0 genome.wustl.edu 37 9 441391 441391 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 441391 441391 A G SNP DOCK8 ENST00000453981 human ensembl 69_37n +1 known missense c.5329 p.R1777G 1.000 NULL pfam_DOCK,pfam_DUF3398,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 74 0 0.00 123 23 15.65 - - - DOCK8 0 genome.wustl.edu 37 9 464280 464280 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 464280 464280 T C SNP DOCK8 ENST00000462618 human ensembl 69_37n +1 known splice_site c.NULL NULL 0.000 - - - no_errors DOCK8 HGNC ENSG00000107099 24 0 0.00 61 10 14.08 - - - DOLPP1 0 genome.wustl.edu 37 9 131848990 131848990 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 131848990 131848990 C A SNP DOLPP1 ENST00000372546 human ensembl 69_37n +1 known missense c.593 p.P198H 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors DOLPP1 HGNC ENSG00000167130 87 0 0.00 79 16 16.84 - - - DPEP3 0 genome.wustl.edu 37 16 68012203 68012203 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 68012203 68012203 T C SNP DPEP3 ENST00000268793 human ensembl 69_37n -1 known missense c.728 p.Y243C 1.000 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP3 HGNC ENSG00000141096 52 0 0.00 65 12 15.19 - - - DPP6 0 genome.wustl.edu 37 7 154585811 154585811 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 154585811 154585811 A G SNP DPP6 ENST00000377770 human ensembl 69_37n +1 known missense c.1159 p.K387E 1.000 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 48 0 0.00 16 19 54.29 - - - DPP8 0 genome.wustl.edu 37 15 65777497 65777497 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 65777497 65777497 A G SNP DPP8 ENST00000558559 human ensembl 69_37n -1 novel missense c.229 p.Y77H 0.999 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_start_codon:pseudogene:no_stop_codon DPP8 HGNC ENSG00000074603 75 0 0.00 53 59 52.68 - - - DRD1 0 genome.wustl.edu 37 5 174869489 174869489 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 174869489 174869489 A G SNP DRD1 ENST00000329144 human ensembl 69_37n -1 known missense c.614 p.I205T 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Dopa_1A_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Dopamine_rcpt,prints_Adrnrgc_rcpt - no_errors DRD1 HGNC ENSG00000184845 91 0 0.00 123 21 14.58 - - - DSTYK 0 genome.wustl.edu 37 1 205126412 205126412 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 205126412 205126412 T C SNP DSTYK ENST00000367162 human ensembl 69_37n -1 known missense c.2341 p.K781E 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 DSTYK HGNC ENSG00000133059 76 0 0.00 119 23 16.20 - - - DUSP7 0 genome.wustl.edu 37 3 52088095 52088095 + Missense_Mutation SNP G G C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 52088095 52088095 G C SNP DUSP7 ENST00000296483 human ensembl 69_37n -1 known missense c.660 p.I220M 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,prints_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP7 HGNC ENSG00000164086 204 0 0.00 141 110 43.82 - - - DYNC1H1 0 genome.wustl.edu 37 14 102509062 102509062 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 102509062 102509062 A G SNP DYNC1H1 ENST00000360184 human ensembl 69_37n +1 known missense c.12490 p.I4164V 1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 47 0 0.00 71 20 21.98 - - - DYNC1H1 0 genome.wustl.edu 37 14 102516130 102516130 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 102516130 102516130 A G SNP DYNC1H1 ENST00000360184 human ensembl 69_37n +1 known missense c.13595 p.N4532S 1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 19 0 0.00 24 5 17.24 - - - DYNC1I1 0 genome.wustl.edu 37 7 95657618 95657618 + Silent SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 95657618 95657618 A C SNP DYNC1I1 ENST00000324972 human ensembl 69_37n +1 known silent c.1152 p.S384 0.948 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I1 HGNC ENSG00000158560 37 0 0.00 44 16 26.67 - - - DYNC2H1 0 genome.wustl.edu 37 11 103036734 103036734 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 103036734 103036734 A T SNP DYNC2H1 ENST00000398093 human ensembl 69_37n +1 known missense c.4719 p.Q1573H 0.972 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 30 0 0.00 26 21 44.68 - - - DYSF 0 genome.wustl.edu 37 2 71883420 71883420 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 71883420 71883420 G A SNP DYSF ENST00000413539 human ensembl 69_37n +1 known silent c.4731 p.K1577 1.000 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors DYSF HGNC ENSG00000135636 50 0 0.00 70 22 23.91 - - - DZIP3 0 genome.wustl.edu 37 3 108367765 108367765 + Missense_Mutation SNP G G C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 108367765 108367765 G C SNP DZIP3 ENST00000361582 human ensembl 69_37n +1 known missense c.1963 p.V655L 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 40 0 0.00 50 17 25.37 - - - E2F7 0 genome.wustl.edu 37 12 77427807 77427807 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 77427807 77427807 T C SNP E2F7 ENST00000322886 human ensembl 69_37n -1 known missense c.1139 p.D380G 0.997 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 41 0 0.00 42 7 14.29 - - - E2F8 0 genome.wustl.edu 37 11 19246367 19246367 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 19246367 19246367 T G SNP E2F8 ENST00000250024 human ensembl 69_37n -1 known missense c.2442 p.K814N 1.000 NULL pfam_E2F_TDP - no_errors E2F8 HGNC ENSG00000129173 55 0 0.00 89 33 27.05 - - - EAF1 0 genome.wustl.edu 37 3 15471489 15471489 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 15471489 15471489 T C SNP EAF1 ENST00000396842 human ensembl 69_37n +1 known missense c.173 p.V58A 1.000 pfam_Tscrpt_elong_fac_Eaf_N pfam_Tscrpt_elong_fac_Eaf_N - no_errors EAF1 HGNC ENSG00000144597 127 0 0.00 168 60 26.32 - - - EAPP 0 genome.wustl.edu 37 14 35005482 35005482 + Splice_Site SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 35005482 35005482 C T SNP EAPP ENST00000250454 human ensembl 69_37n -1 known splice_site c.75-1 e2-1 1.000 - - - no_errors EAPP HGNC ENSG00000129518 55 0 0.00 110 31 21.99 - - - EEF1A1 0 genome.wustl.edu 37 6 74228713 74228713 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 74228713 74228713 A G SNP EEF1A1 ENST00000309268 human ensembl 69_37n -1 known missense c.563 p.V188A 1.000 pfam_ProtSyn_GTP-bd,tigrfam_Transl_elong_EF1A_euk/arc pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A1 HGNC ENSG00000156508 64 0 0.00 93 66 41.51 - - - EGFL6 0 genome.wustl.edu 37 X 13626502 13626502 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 13626502 13626502 A G SNP EGFL6 ENST00000380602 human ensembl 69_37n +1 known missense c.715 p.T239A 1.000 pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_MAM_dom,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors EGFL6 HGNC ENSG00000198759 114 0 0.00 141 48 25.40 - - - EGR1 0 genome.wustl.edu 37 5 137803283 137803283 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 137803283 137803283 A G SNP EGR1 ENST00000239938 human ensembl 69_37n +1 known missense c.1145 p.H382R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 73 0 0.00 47 20 29.41 - - - EIF2C1 0 genome.wustl.edu 37 1 36367604 36367604 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 36367604 36367604 T C SNP EIF2C1 ENST00000373204 human ensembl 69_37n +1 known missense c.1196 p.V399A 1.000 NULL pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C1 HGNC ENSG00000092847 59 0 0.00 113 34 23.13 - - - EIF2C2 0 genome.wustl.edu 37 8 141567283 141567283 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 141567283 141567283 A G SNP EIF2C2 ENST00000220592 human ensembl 69_37n -1 known missense c.931 p.Y311H 1.000 pfam_PAZ,superfamily_PAZ,smart_PAZ,pfscan_PAZ pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C2 HGNC ENSG00000123908 66 0 0.00 65 42 37.50 - - - EIF2S3 0 genome.wustl.edu 37 X 24089733 24089733 + Silent SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 24089733 24089733 A T SNP EIF2S3 ENST00000253039 human ensembl 69_37n +1 known silent c.1071 p.V357 0.276 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel pfam_ProtSyn_GTP-bd,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_ProtSyn_GTP-bd - no_errors EIF2S3 HGNC ENSG00000130741 48 0 0.00 75 12 13.79 - - - EIF3G 0 genome.wustl.edu 37 19 10229396 10229396 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 10229396 10229396 C T SNP EIF3G ENST00000253108 human ensembl 69_37n -1 known missense c.248 p.R83H 1.000 pfam_eIF3g_N,pirsf_Transl_init_eIF-3_G pfam_eIF3g_N,pfam_RRM_dom,smart_RRM_dom,pirsf_Transl_init_eIF-3_G,pfscan_RRM_dom - no_errors EIF3G HGNC ENSG00000130811 35 0 0.00 26 19 42.22 - - - ELAVL4 0 genome.wustl.edu 37 1 50572059 50572059 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 50572059 50572059 A G SNP ELAVL4 ENST00000357083 human ensembl 69_37n +1 known silent c.54 p.S18 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL4 HGNC ENSG00000162374 76 0 0.00 84 35 29.41 - - - ELK1 0 genome.wustl.edu 37 X 47496235 47496235 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 47496235 47496235 T C SNP ELK1 ENST00000247161 human ensembl 69_37n -1 known missense c.1280 p.K427R 1.000 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELK1 HGNC ENSG00000126767 42 0 0.00 40 6 13.04 - - - ELOVL5 0 genome.wustl.edu 37 6 53156753 53156753 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 53156753 53156753 C T SNP ELOVL5 ENST00000541407 human ensembl 69_37n -1 known missense c.67 p.V23I 1.000 NULL pfam_GNS1_SUR4 - no_errors ELOVL5 HGNC ENSG00000012660 58 0 0.00 53 45 45.45 - - - EMC2 0 genome.wustl.edu 37 8 109489020 109489020 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 109489020 109489020 A G SNP EMC2 ENST00000220853 human ensembl 69_37n +1 known missense c.601 p.T201A 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors EMC2 HGNC ENSG00000104412 153 0 0.00 165 42 20.19 - - - EMILIN3 0 genome.wustl.edu 37 20 39990972 39990972 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 39990972 39990972 C T SNP EMILIN3 ENST00000332312 human ensembl 69_37n -1 known missense c.1237 p.G413S 0.000 NULL pfam_EMI_domain,pfscan_EMI_domain - no_errors EMILIN3 HGNC ENSG00000183798 26 0 0.00 15 12 44.44 - - - EML5 0 genome.wustl.edu 37 14 89124579 89124579 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 89124579 89124579 T - DEL EML5 ENST00000554922 human ensembl 69_37n -1 known frame_shift_del c.3829 p.R1277fs 1.000 NULL pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 73 0 0.00 51 40 43.96 - - - EMP2 0 genome.wustl.edu 37 16 10626885 10626885 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 10626885 10626885 G A SNP EMP2 ENST00000359543 human ensembl 69_37n -1 known silent c.381 p.N127 0.000 pfam_PMP22/EMP/MP20/Claudin,prints_EMP_2 pfam_PMP22/EMP/MP20/Claudin,prints_EMP_2,prints_PMP22_EMP_MP20 - no_errors EMP2 HGNC ENSG00000213853 74 0 0.00 91 23 20.18 - - - ENAH 0 genome.wustl.edu 37 1 225700686 225700686 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 225700686 225700686 A G SNP ENAH ENST00000366844 human ensembl 69_37n -1 known silent c.1251 p.N417 0.008 NULL pfam_EVH1,pfam_VASP_tetra,smart_EVH1,pfscan_EVH1 - no_errors ENAH HGNC ENSG00000154380 91 0 0.00 94 49 34.27 - - - ENPP1 0 genome.wustl.edu 37 6 132196979 132196979 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 132196979 132196979 A G SNP ENPP1 ENST00000360971 human ensembl 69_37n +1 known missense c.1699 p.I567V 1.000 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENSG00000197594 102 0 0.00 100 68 40.48 - - - ENTHD1 0 genome.wustl.edu 37 22 40283459 40283459 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 22 40283459 40283459 A G SNP ENTHD1 ENST00000325157 human ensembl 69_37n -1 known silent c.294 p.C98 1.000 pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_Epsin_dom_N,pfam_VHS,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors ENTHD1 HGNC ENSG00000176177 118 0 0.00 72 60 45.45 - - - EP300 0 genome.wustl.edu 37 22 41568658 41568658 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 22 41568658 41568658 A T SNP EP300 ENST00000263253 human ensembl 69_37n +1 known missense c.4608 p.E1536D 0.976 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 84 0 0.00 58 49 45.79 - - - EPB41L2 0 genome.wustl.edu 37 6 131201317 131201317 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 131201317 131201317 A G SNP EPB41L2 ENST00000456097 human ensembl 69_37n -1 novel missense c.334 p.Y112H 1.000 NULL pfam_SAB,pfam_FERM-adjacent - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region EPB41L2 HGNC ENSG00000079819 105 0 0.00 146 26 15.12 - - - EPC2 0 genome.wustl.edu 37 2 149447914 149447914 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 149447914 149447914 A T SNP EPC2 ENST00000258484 human ensembl 69_37n +1 known missense c.285 p.K95N 1.000 pfam_Enhancer_polycomb-like_N pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC2 HGNC ENSG00000135999 138 0 0.00 168 39 18.66 - - - EPG5 0 genome.wustl.edu 37 18 43432571 43432571 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 18 43432571 43432571 A G SNP EPG5 ENST00000282041 human ensembl 69_37n -1 known missense c.7601 p.V2534A 0.002 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 137 0 0.00 103 73 41.48 - - - EPHB2 0 genome.wustl.edu 37 1 23219497 23219497 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 23219497 23219497 G A SNP EPHB2 ENST00000400191 human ensembl 69_37n +1 known missense c.1549 p.G517R 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 45 0 0.00 29 10 25.64 - - - EPS15 0 genome.wustl.edu 37 1 51866605 51866605 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 51866605 51866605 G T SNP EPS15 ENST00000371733 human ensembl 69_37n -1 known missense c.1903 p.P635T 1.000 NULL smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC ENSG00000085832 57 0 0.00 80 11 12.09 - - - EPS15 0 genome.wustl.edu 37 1 51869127 51869127 + Silent SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 51869127 51869127 A T SNP EPS15 ENST00000371733 human ensembl 69_37n -1 known silent c.1755 p.V585 1.000 NULL smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC ENSG00000085832 118 0 0.00 177 50 22.03 - - - ERBB4 0 genome.wustl.edu 37 2 212285236 212285236 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 212285236 212285236 T C SNP ERBB4 ENST00000342788 human ensembl 69_37n -1 known missense c.3065 p.Y1022C 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB4 HGNC ENSG00000178568 85 0 0.00 109 24 18.05 - - - ERCC1 0 genome.wustl.edu 37 19 45918179 45918179 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 45918179 45918179 G T SNP ERCC1 ENST00000592444 human ensembl 69_37n -1 novel missense c.79 p.L27I 0.994 superfamily_Restrct_endonuc-II-like superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ERCC1 HGNC ENSG00000012061 68 0 0.00 32 41 56.16 - - - ERCC6 0 genome.wustl.edu 37 10 50668419 50668419 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 50668419 50668419 C A SNP ERCC6 ENST00000355832 human ensembl 69_37n -1 known missense c.4062 p.Q1354H 1.000 NULL pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6 HGNC ENSG00000225830 92 0 0.00 124 32 20.51 - - - ERCC6 0 genome.wustl.edu 37 10 50732504 50732504 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 50732504 50732504 T C SNP ERCC6 ENST00000355832 human ensembl 69_37n -1 known silent c.972 p.K324 0.302 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 182 0 0.00 210 47 18.29 - - - ESPNP 0 genome.wustl.edu 37 1 17017757 17017757 + RNA SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 17017757 17017757 G A SNP ESPNP ENST00000492551 human ensembl 69_37n -1 known rna NULL NULL 0.986 - - - no_errors ESPNP HGNC ENSG00000116219 76 0 0.00 63 7 10.00 - - - ETV7 0 genome.wustl.edu 37 6 36336758 36336758 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 36336758 36336758 A G SNP ETV7 ENST00000340181 human ensembl 69_37n -1 known missense c.755 p.I252T 1.000 pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV7 HGNC ENSG00000010030 120 0 0.00 152 23 13.14 - - - EXT1 0 genome.wustl.edu 37 8 119122937 119122937 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 119122937 119122937 A T SNP EXT1 ENST00000378204 human ensembl 69_37n -1 known missense c.349 p.Y117N 1.000 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 74 0 0.00 91 64 41.29 - - - EXT1 0 genome.wustl.edu 37 8 119123053 119123053 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 119123053 119123053 A T SNP EXT1 ENST00000378204 human ensembl 69_37n -1 known missense c.233 p.V78E 0.698 NULL pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT1 HGNC ENSG00000182197 49 0 0.00 61 31 33.70 - - - F13A1 0 genome.wustl.edu 37 6 6251074 6251074 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 6251074 6251074 G A SNP F13A1 ENST00000264870 human ensembl 69_37n -1 known silent c.660 p.D220 0.962 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 121 0 0.00 106 65 38.01 - - - F8 0 genome.wustl.edu 37 X 154132573 154132573 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 154132573 154132573 T C SNP F8 ENST00000360256 human ensembl 69_37n -1 known missense c.5813 p.H1938R 1.000 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 100 0 0.00 131 59 31.05 - - - FAM116A 0 genome.wustl.edu 37 3 57619029 57619029 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 57619029 57619029 T G SNP FAM116A ENST00000311128 human ensembl 69_37n -1 known missense c.1316 p.Y439S 1.000 pfam_Afi1_N pfam_Afi1_N,pfam_Secretory_pathway_prot_Avl9,pfam_DENN_dom - no_errors FAM116A HGNC ENSG00000174839 61 0 0.00 53 9 14.52 - - - FAM131A 0 genome.wustl.edu 37 3 184059929 184059929 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 184059929 184059929 A G SNP FAM131A ENST00000383847 human ensembl 69_37n +1 known missense c.401 p.E134G 1.000 NULL NULL - no_errors FAM131A HGNC ENSG00000175182 52 0 0.00 56 21 27.27 - - - FAM13B 0 genome.wustl.edu 37 5 137347505 137347505 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 137347505 137347505 A G SNP FAM13B ENST00000033079 human ensembl 69_37n -1 known missense c.500 p.I167T 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 48 0 0.00 44 30 40.54 - - - FAM13C 0 genome.wustl.edu 37 10 61014181 61014181 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 61014181 61014181 A G SNP FAM13C ENST00000373868 human ensembl 69_37n -1 known missense c.1259 p.L420P 1.000 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 153 0 0.00 200 47 19.03 - - - FAM155B 0 genome.wustl.edu 37 X 68725672 68725672 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 68725672 68725672 A - DEL FAM155B ENST00000252338 human ensembl 69_37n +1 known frame_shift_del c.547 p.N185fs 0.996 NULL NULL - no_errors FAM155B HGNC ENSG00000130054 37 0 0.00 31 14 29.79 - - - FAM178A 0 genome.wustl.edu 37 10 102684177 102684177 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 102684177 102684177 A G SNP FAM178A ENST00000370269 human ensembl 69_37n +1 known silent c.1419 p.L473 0.993 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 26 0 0.00 42 6 12.50 - - - FAM184A 0 genome.wustl.edu 37 6 119282932 119282932 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 119282932 119282932 A T SNP FAM184A ENST00000338891 human ensembl 69_37n -1 known missense c.3335 p.F1112Y 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 83 0 0.00 61 74 54.81 - - - FAM188A 0 genome.wustl.edu 37 10 15838114 15838114 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 15838114 15838114 T C SNP FAM188A ENST00000277632 human ensembl 69_37n -1 known missense c.940 p.T314A 1.000 NULL NULL - no_errors FAM188A HGNC ENSG00000148481 58 0 0.00 127 17 11.81 - - - FAM193A 0 genome.wustl.edu 37 4 2733551 2733551 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 2733551 2733551 T C SNP FAM193A ENST00000324666 human ensembl 69_37n +1 known missense c.3754 p.W1252R 1.000 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 76 0 0.00 61 25 29.07 - - - FAM193B 0 genome.wustl.edu 37 5 176959539 176959539 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 176959539 176959539 T G SNP FAM193B ENST00000443375 human ensembl 69_37n -1 known missense c.841 p.S281R 1.000 NULL NULL - no_errors FAM193B HGNC ENSG00000146067 17 0 0.00 24 9 27.27 - - - FAM208A 0 genome.wustl.edu 37 3 56703802 56703802 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 56703802 56703802 A G SNP FAM208A ENST00000355628 human ensembl 69_37n -1 known missense c.661 p.Y221H 1.000 pfam_DUF3715 pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 69 0 0.00 39 31 44.29 - - - FAM208B 0 genome.wustl.edu 37 10 5772959 5772961 + In_Frame_Del DEL AAG AAG - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 5772959 5772961 AAG - DEL FAM208B ENST00000328090 human ensembl 69_37n +1 known in_frame_del c.997_999 p.K334in_frame_del 0.000:0.001:0.000 NULL pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 50 0 0.00 110 19 14.73 - - - FAM208B 0 genome.wustl.edu 37 10 5788566 5788566 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 5788566 5788566 A G SNP FAM208B ENST00000328090 human ensembl 69_37n +1 known missense c.3182 p.H1061R 0.000 pfam_DUF3699 pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 43 0 0.00 85 21 19.81 - - - FAM47B 0 genome.wustl.edu 37 X 34962381 34962381 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 34962381 34962381 C A SNP FAM47B ENST00000329357 human ensembl 69_37n +1 known missense c.1433 p.S478Y 0.003 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 93 0 0.00 148 32 17.68 - - - FAM57B 0 genome.wustl.edu 37 16 30041821 30041821 + Frame_Shift_Del DEL C C - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 30041821 30041821 C - DEL FAM57B ENST00000380495 human ensembl 69_37n -1 known frame_shift_del c.28 p.V10fs 1.000 NULL pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom - no_errors FAM57B HGNC ENSG00000149926 14 0 0.00 17 3 15.00 - - - FAM63B 0 genome.wustl.edu 37 15 59064339 59064339 + Nonsense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 59064339 59064339 C T SNP FAM63B ENST00000559228 human ensembl 69_37n +1 known nonsense c.745 p.Q249* 1.000 NULL pfam_DUF544 - no_errors FAM63B HGNC ENSG00000128923 96 0 0.00 63 82 56.55 - - - FAM65C 0 genome.wustl.edu 37 20 49214207 49214207 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 49214207 49214207 A G SNP FAM65C ENST00000535356 human ensembl 69_37n -1 known missense c.1700 p.L567P 1.000 NULL superfamily_ARM-type_fold,superfamily_Chemokine_IL8-like_dom - no_errors FAM65C HGNC ENSG00000042062 32 0 0.00 10 7 38.89 - - - FAM70A 0 genome.wustl.edu 37 X 119425191 119425191 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 119425191 119425191 A G SNP FAM70A ENST00000309720 human ensembl 69_37n -1 known missense c.269 p.V90A 1.000 NULL NULL - no_errors FAM70A HGNC ENSG00000125355 70 0 0.00 80 20 19.80 - - - FAM91A1 0 genome.wustl.edu 37 8 124812115 124812115 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 124812115 124812115 T C SNP FAM91A1 ENST00000334705 human ensembl 69_37n +1 known missense c.1799 p.V600A 1.000 NULL NULL - no_errors FAM91A1 HGNC ENSG00000176853 114 0 0.00 128 82 39.05 - - - FAM98A 0 genome.wustl.edu 37 2 33813419 33813419 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 33813419 33813419 T C SNP FAM98A ENST00000238823 human ensembl 69_37n -1 known missense c.505 p.S169G 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 160 0 0.00 113 67 37.22 - - - FANCD2 0 genome.wustl.edu 37 3 10114941 10114941 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 10114941 10114941 G T SNP FANCD2 ENST00000287647 human ensembl 69_37n +1 known missense c.2610 p.R870S 0.556 NULL superfamily_ARM-type_fold - no_errors FANCD2 HGNC ENSG00000144554 29 0 0.00 31 18 36.73 - - - FARP2 0 genome.wustl.edu 37 2 242352812 242352812 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 242352812 242352812 T A SNP FARP2 ENST00000264042 human ensembl 69_37n +1 known missense c.599 p.I200K 0.994 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FARP2 HGNC ENSG00000006607 61 0 0.00 53 22 29.33 - - - FARSB 0 genome.wustl.edu 37 2 223504404 223504404 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 223504404 223504404 A T SNP FARSB ENST00000281828 human ensembl 69_37n -1 known missense c.350 p.I117K 0.999 smart_B3/B4_tRNA-bd,tigrfam_Phe-tRNA-synth_IIc_bsu_arc pfam_B3/B4_tRNA-bd,pfam_tRNA_synthase_B5-dom,superfamily_DNA-bd_dom_put,superfamily_Phe-tRNA_synthase_B3/B4,smart_B3/B4_tRNA-bd,smart_tRNA_synthase_B5-dom,tigrfam_Phe-tRNA-synth_IIc_bsu_arc - no_errors FARSB HGNC ENSG00000116120 58 0 0.00 83 10 10.75 - - - FAT2 0 genome.wustl.edu 37 5 150901548 150901548 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 150901548 150901548 T G SNP FAT2 ENST00000261800 human ensembl 69_37n -1 known missense c.10606 p.I3536L 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 37 0 0.00 14 29 67.44 - - - FAT3 0 genome.wustl.edu 37 11 92531224 92531224 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 92531224 92531224 A G SNP FAT3 ENST00000298047 human ensembl 69_37n +1 known missense c.5045 p.E1682G 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,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 FAT3 HGNC ENSG00000165323 40 0 0.00 57 16 21.92 - - - FAT4 0 genome.wustl.edu 37 4 126328238 126328238 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 126328238 126328238 T C SNP FAT4 ENST00000394329 human ensembl 69_37n +1 known silent c.5511 p.H1837 0.937 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 53 0 0.00 39 26 40.00 - - - FBXO11 0 genome.wustl.edu 37 2 48046193 48046193 + Nonsense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 48046193 48046193 C A SNP FBXO11 ENST00000403359 human ensembl 69_37n -1 known nonsense c.1822 p.E608* 1.000 superfamily_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1,tigrfam_Para_beta_helix_rpt-2 pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 65 0 0.00 84 11 11.58 - - - FBXO24 0 genome.wustl.edu 37 7 100184262 100184262 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 100184262 100184262 C T SNP FBXO24 ENST00000241071 human ensembl 69_37n +1 known missense c.14 p.A5V 0.773 NULL pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens - no_errors FBXO24 HGNC ENSG00000106336 82 0 0.00 110 25 18.52 - - - FBXW7 0 genome.wustl.edu 37 4 153271249 153271249 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 153271249 153271249 C T SNP FBXW7 ENST00000281708 human ensembl 69_37n -1 known missense c.529 p.E177K 1.000 NULL pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW7 HGNC ENSG00000109670 56 0 0.00 42 26 38.24 - - - FGD3 0 genome.wustl.edu 37 9 95773518 95773518 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 95773518 95773518 A G SNP FGD3 ENST00000337352 human ensembl 69_37n +1 known silent c.999 p.T333 0.992 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,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 FGD3 HGNC ENSG00000127084 60 0 0.00 24 5 17.24 - - - FGD5 0 genome.wustl.edu 37 3 14862849 14862849 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 14862849 14862849 A G SNP FGD5 ENST00000285046 human ensembl 69_37n +1 known silent c.2271 p.P757 0.732 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD5 HGNC ENSG00000154783 56 0 0.00 29 54 65.06 - - - FGD6 0 genome.wustl.edu 37 12 95478281 95478281 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 95478281 95478281 C T SNP FGD6 ENST00000343958 human ensembl 69_37n -1 known missense c.4249 p.A1417T 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 74 0 0.00 58 38 39.58 - - - FGFR1 0 genome.wustl.edu 37 8 38287248 38287248 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 38287248 38287248 T G SNP FGFR1 ENST00000425967 human ensembl 69_37n -1 known missense c.409 p.S137R 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR1 HGNC ENSG00000077782 53 0 0.00 45 12 21.05 - - - FGG 0 genome.wustl.edu 37 4 155533355 155533355 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 155533355 155533355 T C SNP FGG ENST00000336098 human ensembl 69_37n -1 known splice_site c.124-2 e3-2 1.000 - - - no_errors FGG HGNC ENSG00000171557 143 1 0.69 101 54 34.84 - - - FHL3 0 genome.wustl.edu 37 1 38463128 38463128 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 38463128 38463128 T C SNP FHL3 ENST00000373016 human ensembl 69_37n -1 known silent c.792 p.V264 0.993 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL3 HGNC ENSG00000183386 60 0 0.00 65 24 26.67 - - - FIG4 0 genome.wustl.edu 37 6 110113866 110113866 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 110113866 110113866 A G SNP FIG4 ENST00000230124 human ensembl 69_37n +1 known missense c.2458 p.R820G 1.000 NULL pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC ENSG00000112367 62 0 0.00 66 40 37.74 - - - FKBP2 0 genome.wustl.edu 37 11 64009989 64009989 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 64009989 64009989 A G SNP FKBP2 ENST00000309366 human ensembl 69_37n +1 known missense c.130 p.I44V 1.000 pfam_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP2 HGNC ENSG00000173486 42 0 0.00 46 16 25.81 - - - FKBP2 0 genome.wustl.edu 37 11 64010937 64010937 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 64010937 64010937 A - DEL FKBP2 ENST00000309366 human ensembl 69_37n +1 known frame_shift_del c.299 p.K101fs 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP2 HGNC ENSG00000173486 48 0 0.00 51 14 20.59 - - - FKBPL 0 genome.wustl.edu 37 6 32097316 32097316 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 32097316 32097316 T A SNP FKBPL ENST00000375156 human ensembl 69_37n -1 known missense c.242 p.H81L 0.019 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors FKBPL HGNC ENSG00000204315 108 0 0.00 173 21 10.82 - - - FLJ44881 0 genome.wustl.edu 37 18 74402396 74402396 + RNA SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 18 74402396 74402396 C T SNP FLJ44881 ENST00000415242 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors AC034110.1 Clone_based_vega_gene ENSG00000229055 125 0 0.00 115 48 29.45 - - - FNDC7 0 genome.wustl.edu 37 1 109276138 109276138 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 109276138 109276138 A - DEL FNDC7 ENST00000271311 human ensembl 69_37n +1 known frame_shift_del c.2127 p.I712fs 0.757 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC7 HGNC ENSG00000143107 40 0 0.00 65 16 19.75 - - - FOLR4 0 genome.wustl.edu 37 11 94038942 94038942 + Splice_Site SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 94038942 94038942 T A SNP FOLR4 ENST00000440961 human ensembl 69_37n +1 novel splice_site c.138+2 e1+2 0.997 - - - no_errors FOLR4 HGNC ENSG00000183560 38 0 0.00 44 30 40.54 - - - FOXM1 0 genome.wustl.edu 37 12 2983284 2983284 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 2983284 2983284 G T SNP FOXM1 ENST00000342628 human ensembl 69_37n -1 known missense c.361 p.L121I 0.001 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXM1 HGNC ENSG00000111206 253 0 0.00 252 105 29.41 - - - FRMD5 0 genome.wustl.edu 37 15 44211718 44211718 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 44211718 44211718 T C SNP FRMD5 ENST00000417257 human ensembl 69_37n -1 known missense c.268 p.M90V 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors FRMD5 HGNC ENSG00000171877 69 0 0.00 73 18 19.78 - - - FRYL 0 genome.wustl.edu 37 4 48604083 48604083 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 48604083 48604083 A - DEL FRYL ENST00000358350 human ensembl 69_37n -1 known frame_shift_del c.989 p.L330fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 49 0 0.00 47 19 27.54 - - - FSIP1 0 genome.wustl.edu 37 15 40057882 40057882 + Missense_Mutation SNP C C G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 40057882 40057882 C G SNP FSIP1 ENST00000350221 human ensembl 69_37n -1 known missense c.376 p.D126H 1.000 NULL NULL - no_errors FSIP1 HGNC ENSG00000150667 188 0 0.00 175 27 13.37 - - - FTSJ3 0 genome.wustl.edu 37 17 61899365 61899365 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 61899365 61899365 T C SNP FTSJ3 ENST00000427159 human ensembl 69_37n -1 known missense c.1454 p.Q485R 0.000 NULL pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 43 0 0.00 46 17 26.98 - - - FZD1 0 genome.wustl.edu 37 7 90895054 90895054 + Missense_Mutation SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 90895054 90895054 A C SNP FZD1 ENST00000287934 human ensembl 69_37n +1 known missense c.859 p.N287H 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 21 0 0.00 23 6 20.69 - - - GALNTL5 0 genome.wustl.edu 37 7 151664478 151664478 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 151664478 151664478 A - DEL GALNTL5 ENST00000392800 human ensembl 69_37n +1 known frame_shift_del c.147 p.V52fs 0.000 NULL pfam_Glyco_trans_2 - no_errors GALNTL5 HGNC ENSG00000106648 64 0 0.00 49 34 40.00 - - - GBA2 0 genome.wustl.edu 37 9 35737755 35737755 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 35737755 35737755 A G SNP GBA2 ENST00000545786 human ensembl 69_37n -1 known missense c.2513 p.M838T 1.000 pfam_Glucosylceramidase,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type pfam_Glucosylceramidase,pfam_GBA2_N,superfamily_6-hairpin_glycosidase-like,pirsf_Beta_glucosidase_GBA2-type - no_errors GBA2 HGNC ENSG00000070610 97 0 0.00 111 13 10.48 - - - GCC2 0 genome.wustl.edu 37 2 109087914 109087914 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 109087914 109087914 T - DEL GCC2 ENST00000309863 human ensembl 69_37n +1 known frame_shift_del c.2129 p.L712fs 0.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 44 0 0.00 42 12 21.82 - - - GDF9 0 genome.wustl.edu 37 5 132198070 132198070 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 132198070 132198070 T A SNP GDF9 ENST00000296875 human ensembl 69_37n -1 known missense c.576 p.R192S 0.000 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF9 HGNC ENSG00000164404 58 0 0.00 61 53 46.49 - - - GDF9 0 genome.wustl.edu 37 5 132199940 132199940 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 132199940 132199940 A G SNP GDF9 ENST00000296875 human ensembl 69_37n -1 known missense c.286 p.Y96H 0.265 NULL pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF9 HGNC ENSG00000164404 87 0 0.00 59 47 44.34 - - - GDPD2 0 genome.wustl.edu 37 X 69650967 69650967 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 69650967 69650967 A G SNP GDPD2 ENST00000453994 human ensembl 69_37n +1 known missense c.1451 p.H484R 0.003 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD2 HGNC ENSG00000130055 90 0 0.00 88 22 20.00 - - - GDPD5 0 genome.wustl.edu 37 11 75153568 75153568 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 75153568 75153568 T C SNP GDPD5 ENST00000336898 human ensembl 69_37n -1 known missense c.1007 p.N336S 1.000 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDPD5 HGNC ENSG00000158555 39 0 0.00 44 18 29.03 - - - GEMIN8 0 genome.wustl.edu 37 X 14027287 14027287 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 14027287 14027287 C T SNP GEMIN8 ENST00000380523 human ensembl 69_37n -1 known silent c.474 p.R158 0.998 NULL NULL - no_errors GEMIN8 HGNC ENSG00000046647 36 0 0.00 32 7 17.95 - - - GFPT2 0 genome.wustl.edu 37 5 179729575 179729576 + Frame_Shift_Ins INS - - G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 179729575 179729576 - G INS GFPT2 ENST00000253778 human ensembl 69_37n -1 known frame_shift_ins c.1852_1851 p.I617fs 0.994:0.007 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 88 0 0.00 142 19 11.80 - - - GFRAL 0 genome.wustl.edu 37 6 55264205 55264205 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 55264205 55264205 T C SNP GFRAL ENST00000340465 human ensembl 69_37n +1 known missense c.1087 p.C363R 0.976 NULL pfam_GDNF/GAS1,smart_GDNF/GAS1 - no_errors GFRAL HGNC ENSG00000187871 74 0 0.00 71 44 38.26 - - - GGPS1 0 genome.wustl.edu 37 1 235505913 235505913 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 235505913 235505913 A - DEL GGPS1 ENST00000282841 human ensembl 69_37n +1 known frame_shift_del c.729 p.K245fs 1.000 pfam_Polyprenyl_synt,superfamily_Terpenoid_synth pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors GGPS1 HGNC ENSG00000152904 40 0 0.00 70 16 18.39 - - - GIGYF1 0 genome.wustl.edu 37 7 100283937 100283937 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 100283937 100283937 T C SNP GIGYF1 ENST00000275732 human ensembl 69_37n -1 known missense c.814 p.S272G 0.958 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 51 0 0.00 69 18 20.69 - - - GIGYF2 0 genome.wustl.edu 37 2 233697794 233697794 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 233697794 233697794 G A SNP GIGYF2 ENST00000373566 human ensembl 69_37n +1 known silent c.2823 p.A941 0.019 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF2 HGNC ENSG00000204120 15 0 0.00 19 5 20.00 - - - GLA 0 genome.wustl.edu 37 X 100652887 100652887 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 100652887 100652887 A G SNP GLA ENST00000218516 human ensembl 69_37n -1 known silent c.1200 p.T400 0.001 NULL pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors GLA HGNC ENSG00000102393 64 0 0.00 59 32 35.16 - - - GLT8D1 0 genome.wustl.edu 37 3 52729457 52729457 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 52729457 52729457 T - DEL GLT8D1 ENST00000266014 human ensembl 69_37n -1 known frame_shift_del c.792 p.K264fs 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GLT8D1 HGNC ENSG00000016864 157 0 0.00 134 80 37.04 - - - GMEB2 0 genome.wustl.edu 37 20 62236137 62236137 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 62236137 62236137 G A SNP GMEB2 ENST00000266068 human ensembl 69_37n -1 known missense c.188 p.A63V 0.853 NULL pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB2 HGNC ENSG00000101216 59 0 0.00 46 28 37.33 - - - GNL2 0 genome.wustl.edu 37 1 38034680 38034680 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 38034680 38034680 A G SNP GNL2 ENST00000373062 human ensembl 69_37n -1 known missense c.1640 p.L547P 1.000 NULL pfam_NOG2_N_dom,pfam_GTP_binding_domain,prints_GTP_binding_domain - no_errors GNL2 HGNC ENSG00000134697 145 0 0.00 172 77 30.92 - - - GOLGA4 0 genome.wustl.edu 37 3 37366139 37366139 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 37366139 37366139 A G SNP GOLGA4 ENST00000361924 human ensembl 69_37n +1 known missense c.2762 p.K921R 0.250 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 28 0 0.00 31 6 16.22 - - - GOLGA5 0 genome.wustl.edu 37 14 93263950 93263950 + Silent SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 93263950 93263950 T G SNP GOLGA5 ENST00000163416 human ensembl 69_37n +1 known silent c.168 p.T56 0.003 NULL pfam_Golgin_subfamily_A_member_5,superfamily_Prefoldin - no_errors GOLGA5 HGNC ENSG00000066455 67 0 0.00 104 32 23.53 - - - GOLGA8A 0 genome.wustl.edu 37 15 34673938 34673938 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 34673938 34673938 C A SNP GOLGA8A ENST00000432566 human ensembl 69_37n -1 known missense c.1663 p.A555S 0.054 NULL NULL - no_errors GOLGA8A HGNC ENSG00000175265 23 0 0.00 9 3 25.00 - - - GOLGB1 0 genome.wustl.edu 37 3 121414699 121414699 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 121414699 121414699 A G SNP GOLGB1 ENST00000340645 human ensembl 69_37n -1 known silent c.4656 p.I1552 0.948 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 101 0 0.00 98 37 27.41 - - - GORASP1 0 genome.wustl.edu 37 3 39140303 39140303 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 39140303 39140303 A G SNP GORASP1 ENST00000319283 human ensembl 69_37n -1 known missense c.998 p.L333P 0.000 pfam_GRASP55/65_PDZ pfam_GRASP55/65_PDZ,superfamily_PDZ - no_errors GORASP1 HGNC ENSG00000114745 98 0 0.00 77 30 28.04 - - - GOT1L1 0 genome.wustl.edu 37 8 37791834 37791834 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 37791834 37791834 T - DEL GOT1L1 ENST00000307599 human ensembl 69_37n -1 known frame_shift_del c.1243 p.T415fs 0.000 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,prints_Asp_trans - no_errors GOT1L1 HGNC ENSG00000169154 110 0 0.00 139 66 31.28 - - - GPAA1 0 genome.wustl.edu 37 8 145138727 145138727 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 145138727 145138727 T C SNP GPAA1 ENST00000529503 human ensembl 69_37n +1 known missense c.401 p.L134P 0.755 NULL NULL - no_errors GPAA1 HGNC ENSG00000197858 25 0 0.00 20 7 25.93 - - - GPR112 0 genome.wustl.edu 37 X 135480086 135480086 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 135480086 135480086 C T SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known missense c.8231 p.A2744V 0.081 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 112 0 0.00 151 31 17.03 - - - GPR139 0 genome.wustl.edu 37 16 20043420 20043420 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 20043420 20043420 A G SNP GPR139 ENST00000570682 human ensembl 69_37n -1 known silent c.699 p.I233 0.939 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR139 HGNC ENSG00000180269 53 0 0.00 64 25 28.09 - - - GPR15 0 genome.wustl.edu 37 3 98251821 98251821 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 98251821 98251821 A G SNP GPR15 ENST00000284311 human ensembl 69_37n +1 known missense c.944 p.H315R 0.000 pfam_7TM_GPCR_serpentine_rcpt_Srv pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srg,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_ATII_rcpt - no_errors GPR15 HGNC ENSG00000154165 33 0 0.00 23 12 34.29 - - - GPR173 0 genome.wustl.edu 37 X 53106578 53106578 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 53106578 53106578 C T SNP GPR173 ENST00000332582 human ensembl 69_37n +1 known silent c.775 p.L259 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR173 HGNC ENSG00000184194 30 0 0.00 44 12 21.43 - - - GPR89A 0 genome.wustl.edu 37 1 145769496 145769496 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 145769496 145769496 A G SNP GPR89A ENST00000313835 human ensembl 69_37n -1 known missense c.1007 p.V336A 1.000 pfam_ABA_GPCR_dom pfam_ABA_GPCR_dom,pfam_Golgi_pH-regulator_cons_dom - no_errors GPR89A HGNC ENSG00000117262 253 0 0.00 254 67 15.51 - - - GPSM2 0 genome.wustl.edu 37 1 109466838 109466838 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 109466838 109466838 T C SNP GPSM2 ENST00000264126 human ensembl 69_37n +1 known splice_site c.1815+2 e13+2 1.000 - - - no_errors GPSM2 HGNC ENSG00000121957 57 0 0.00 79 27 25.47 - - - GREB1 0 genome.wustl.edu 37 2 11696749 11696749 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 11696749 11696749 T C SNP GREB1 ENST00000234142 human ensembl 69_37n +1 known silent c.9 p.N3 1.000 NULL NULL - no_errors GREB1 HGNC ENSG00000196208 60 0 0.00 71 36 33.64 - - - GRHL2 0 genome.wustl.edu 37 8 102661727 102661727 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 102661727 102661727 G A SNP GRHL2 ENST00000251808 human ensembl 69_37n +1 known silent c.1698 p.A566 1.000 NULL pfam_CP2 - no_errors GRHL2 HGNC ENSG00000083307 102 0 0.00 204 28 12.02 - - - GRHPR 0 genome.wustl.edu 37 9 37430701 37430701 + Silent SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 37430701 37430701 A C SNP GRHPR ENST00000377824 human ensembl 69_37n +1 known silent c.792 p.P264 0.000 NULL pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd,pfam_NADP_OxRdtase_F420 - no_errors GRHPR HGNC ENSG00000137106 26 0 0.00 45 13 22.03 - - - GRXCR1 0 genome.wustl.edu 37 4 42895324 42895324 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 42895324 42895324 G A SNP GRXCR1 ENST00000399770 human ensembl 69_37n +1 known missense c.41 p.R14Q 0.975 NULL pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 65 0 0.00 57 32 35.96 - - - GTF2H3 0 genome.wustl.edu 37 12 124130032 124130032 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 124130032 124130032 A G SNP GTF2H3 ENST00000543341 human ensembl 69_37n +1 known missense c.124 p.M42V 1.000 pfam_TF_Tfb4,tigrfam_TF_Tfb4 pfam_TF_Tfb4,tigrfam_TF_Tfb4 - no_errors GTF2H3 HGNC ENSG00000111358 159 0 0.00 115 67 36.81 - - - GTF2I 0 genome.wustl.edu 37 7 74105366 74105366 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 74105366 74105366 T C SNP GTF2I ENST00000324896 human ensembl 69_37n +1 known missense c.161 p.V54A 0.997 pirsf_TF_II-I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2I HGNC ENSG00000077809 100 0 0.00 112 47 29.56 - - - GTF2IRD2 0 genome.wustl.edu 37 7 74212284 74212284 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 74212284 74212284 C T SNP GTF2IRD2 ENST00000405086 human ensembl 69_37n -1 known missense c.1567 p.V523M 0.073 NULL pfam_GTF2I,superfamily_GTF2I,superfamily_RNaseH-like_dom,pfscan_GTF2I - no_errors GTF2IRD2 HGNC ENSG00000196275 49 0 0.00 64 24 27.27 - - - GTPBP3 0 genome.wustl.edu 37 19 17449407 17449407 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 17449407 17449407 A G SNP GTPBP3 ENST00000358792 human ensembl 69_37n +1 known missense c.448 p.N150D 0.988 pfam_GTP-bd_TrmE_N pfam_GTP-bd_TrmE_N,pfam_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors GTPBP3 HGNC ENSG00000130299 36 0 0.00 42 13 23.64 - - - GZF1 0 genome.wustl.edu 37 20 23350233 23350233 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 23350233 23350233 A G SNP GZF1 ENST00000338121 human ensembl 69_37n +1 known missense c.1640 p.Y547C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors GZF1 HGNC ENSG00000125812 20 0 0.00 12 12 50.00 - - - HCP5 0 genome.wustl.edu 37 6 31431503 31431503 + RNA SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 31431503 31431503 C T SNP HCP5 ENST00000414046 human ensembl 69_37n +1 known rna NULL NULL 0.014 - - - no_errors HCP5 HGNC ENSG00000206337 98 0 0.00 117 55 31.98 - - - HEATR1 0 genome.wustl.edu 37 1 236714266 236714266 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 236714266 236714266 T C SNP HEATR1 ENST00000366582 human ensembl 69_37n -1 known missense c.6371 p.Q2124R 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 81 0 0.00 162 29 15.18 - - - HEATR5B 0 genome.wustl.edu 37 2 37286079 37286079 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 37286079 37286079 A T SNP HEATR5B ENST00000233099 human ensembl 69_37n -1 known missense c.1901 p.I634N 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 86 0 0.00 83 53 38.97 - - - HERC2 0 genome.wustl.edu 37 15 28525309 28525309 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 28525309 28525309 G A SNP HERC2 ENST00000261609 human ensembl 69_37n -1 known silent c.447 p.R149 0.883 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 104 0 0.00 68 15 17.86 - - - HGS 0 genome.wustl.edu 37 17 79663911 79663911 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 79663911 79663911 T G SNP HGS ENST00000329138 human ensembl 69_37n +1 known missense c.1765 p.F589V 1.000 pirsf_Ubi-bd_Hrs_VPS27 pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel - no_errors HGS HGNC ENSG00000185359 13 0 0.00 15 6 27.27 - - - HIPK2 0 genome.wustl.edu 37 7 139257859 139257859 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 139257859 139257859 T C SNP HIPK2 ENST00000406875 human ensembl 69_37n -1 known silent c.3411 p.P1137 0.041 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK2 HGNC ENSG00000064393 64 0 0.00 98 13 11.71 - - - HIPK3 0 genome.wustl.edu 37 11 33360386 33360386 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 33360386 33360386 G A SNP HIPK3 ENST00000303296 human ensembl 69_37n +1 known silent c.1425 p.A475 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors HIPK3 HGNC ENSG00000110422 57 0 0.00 87 20 18.69 - - - HIVEP2 0 genome.wustl.edu 37 6 143081364 143081364 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 143081364 143081364 A G SNP HIVEP2 ENST00000012134 human ensembl 69_37n -1 known missense c.6061 p.C2021R 0.001 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 186 0 0.00 189 92 32.74 - - - HLA-C 0 genome.wustl.edu 37 6 31239109 31239109 + Nonsense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 31239109 31239109 C A SNP HLA-C ENST00000415537 human ensembl 69_37n -1 novel nonsense c.358 p.E120* 0.749 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region HLA-C HGNC ENSG00000204525 9 0 0.00 1 4 80.00 - - - HMBOX1 0 genome.wustl.edu 37 8 28827600 28827600 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 28827600 28827600 T G SNP HMBOX1 ENST00000444075 human ensembl 69_37n +1 known missense c.64 p.F22V 1.000 NULL pfam_HNF-1_N,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors HMBOX1 HGNC ENSG00000147421 21 0 0.00 24 15 38.46 - - - HMCN1 0 genome.wustl.edu 37 1 185947023 185947023 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 185947023 185947023 T C SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.2476 p.W826R 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,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 151 0 0.00 229 27 10.55 - - - HMCN2 0 genome.wustl.edu 37 9 133072322 133072322 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 133072322 133072322 A T SNP HMCN2 ENST00000415566 human ensembl 69_37n +1 novel missense c.2221 p.I741F 0.068 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_start_codon:no_stop_codon:bad_bp_length_for_coding_region HMCN2 HGNC ENSG00000148357 53 0 0.00 59 19 24.36 - - - HMMR 0 genome.wustl.edu 37 5 162917426 162917426 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 162917426 162917426 A - DEL HMMR ENST00000393915 human ensembl 69_37n +1 known frame_shift_del c.1993 p.K667fs 1.000 NULL NULL - no_errors HMMR HGNC ENSG00000072571 36 0 0.00 43 19 30.65 - - - HOXB3 0 genome.wustl.edu 37 17 46629396 46629396 + Frame_Shift_Del DEL G G - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 46629396 46629396 G - DEL HOXB3 ENST00000311626 human ensembl 69_37n -1 known frame_shift_del c.441 p.G148fs 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 115 0 0.00 61 42 40.38 - - - HRG 0 genome.wustl.edu 37 3 186395438 186395438 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 186395438 186395438 T C SNP HRG ENST00000232003 human ensembl 69_37n +1 known silent c.1344 p.R448 0.095 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors HRG HGNC ENSG00000113905 47 0 0.00 65 23 26.14 - - - HS2ST1 0 genome.wustl.edu 37 1 87538857 87538857 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 87538857 87538857 T C SNP HS2ST1 ENST00000370550 human ensembl 69_37n +1 known splice_site c.363+2 e2+2 1.000 - - - no_errors HS2ST1 HGNC ENSG00000153936 44 0 0.00 50 22 30.56 - - - HSD3B7 0 genome.wustl.edu 37 16 30999275 30999275 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 30999275 30999275 T C SNP HSD3B7 ENST00000297679 human ensembl 69_37n +1 known missense c.881 p.L294P 1.000 NULL pfam_3Beta_OHSteriod_DH/Estase,pfam_Epimerase_deHydtase,pfam_Male_sterile_NAD-bd,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Polysac_CapD-like,pfam_dTDP_dehydrorham_reduct,pfam_NmrA - no_errors HSD3B7 HGNC ENSG00000099377 57 0 0.00 34 10 22.73 - - - HSPG2 0 genome.wustl.edu 37 1 22160416 22160416 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 22160416 22160416 A G SNP HSPG2 ENST00000374695 human ensembl 69_37n -1 known silent c.10723 p.L3575 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_dom,superfamily_ConA-like_lec_gl,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like - no_errors HSPG2 HGNC ENSG00000142798 56 0 0.00 30 22 41.51 - - - HUWE1 0 genome.wustl.edu 37 X 53655570 53655570 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 53655570 53655570 A G SNP HUWE1 ENST00000262854 human ensembl 69_37n -1 known silent c.1116 p.D372 1.000 superfamily_ARM-type_fold pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 77 0 0.00 116 24 17.14 - - - IARS2 0 genome.wustl.edu 37 1 220300110 220300110 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 220300110 220300110 T C SNP IARS2 ENST00000302637 human ensembl 69_37n +1 known silent c.1762 p.L588 0.142 pfam_aa-tRNA-synth_Ia,tigrfam_Ile-tRNA-synt pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_Znf_DNA_glyclase/IsotRNA_synth,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt - no_errors IARS2 HGNC ENSG00000067704 161 0 0.00 155 61 28.24 - - - IDH3A 0 genome.wustl.edu 37 15 78452522 78452522 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 78452522 78452522 T C SNP IDH3A ENST00000299518 human ensembl 69_37n +1 known missense c.263 p.M88T 1.000 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3A HGNC ENSG00000166411 40 0 0.00 38 15 28.30 - - - IDI1 0 genome.wustl.edu 37 10 1088521 1088521 + Silent SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 1088521 1088521 T A SNP IDI1 ENST00000427898 human ensembl 69_37n -1 known silent c.330 p.I110 0.001 NULL pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_stop_codon:bad_bp_length_for_coding_region IDI1 HGNC ENSG00000067064 59 0 0.00 69 38 35.51 - - - IFFO1 0 genome.wustl.edu 37 12 6660141 6660141 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 6660141 6660141 A G SNP IFFO1 ENST00000356896 human ensembl 69_37n -1 known missense c.800 p.I267T 0.417 NULL NULL - no_errors IFFO1 HGNC ENSG00000010295 62 0 0.00 82 19 18.81 - - - IFI16 0 genome.wustl.edu 37 1 158990208 158990208 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 158990208 158990208 A G SNP IFI16 ENST00000295809 human ensembl 69_37n +1 known silent c.1050 p.Q350 0.001 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors IFI16 HGNC ENSG00000163565 76 0 0.00 72 25 25.77 - - - IGDCC4 0 genome.wustl.edu 37 15 65702618 65702618 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 65702618 65702618 A G SNP IGDCC4 ENST00000352385 human ensembl 69_37n -1 novel missense c.461 p.V154A 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGDCC4 HGNC ENSG00000103742 34 0 0.00 42 19 31.15 - - - IGLV5-45 0 genome.wustl.edu 37 22 22730663 22730663 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 22 22730663 22730663 G T SNP IGLV5-45 ENST00000390296 human ensembl 69_37n +1 known missense c.158 p.R53M 0.000 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 73 0 0.00 60 27 31.03 - - - IGSF9 0 genome.wustl.edu 37 1 159904032 159904032 + Frame_Shift_Del DEL G G - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 159904032 159904032 G - DEL IGSF9 ENST00000368094 human ensembl 69_37n -1 known frame_shift_del c.1052 p.P351fs 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF9 HGNC ENSG00000085552 30 0 0.00 65 11 14.29 - - - IKZF5 0 genome.wustl.edu 37 10 124753556 124753556 + Missense_Mutation SNP G G C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 124753556 124753556 G C SNP IKZF5 ENST00000368886 human ensembl 69_37n -1 known missense c.1000 p.P334A 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF5 HGNC ENSG00000095574 85 0 0.00 74 20 21.28 - - - IL17F 0 genome.wustl.edu 37 6 52103684 52103684 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 52103684 52103684 A G SNP IL17F ENST00000336123 human ensembl 69_37n -1 known missense c.98 p.I33T 0.000 pfam_Interleukin-17 pfam_Interleukin-17,prints_Interleukin-17_chordata - no_errors IL17F HGNC ENSG00000112116 60 0 0.00 80 11 12.09 - - - IL1RAP 0 genome.wustl.edu 37 3 190326897 190326897 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 190326897 190326897 T A SNP IL1RAP ENST00000443369 human ensembl 69_37n +1 known missense c.464 p.I155N 0.287 smart_Ig_sub,pfscan_Ig-like 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 96 0 0.00 117 45 27.61 - - - IL29 0 genome.wustl.edu 37 19 39788881 39788881 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 39788881 39788881 G A SNP IL29 ENST00000333625 human ensembl 69_37n +1 known missense c.422 p.R141K 0.000 NULL NULL - no_errors IL29 HGNC ENSG00000182393 39 0 0.00 33 11 25.00 - - - IL2RG 0 genome.wustl.edu 37 X 70328515 70328515 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 70328515 70328515 A G SNP IL2RG ENST00000374202 human ensembl 69_37n -1 known missense c.788 p.V263A 0.947 NULL pfam_IL6_recept-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RG HGNC ENSG00000147168 75 0 0.00 87 24 21.62 - - - INPP5F 0 genome.wustl.edu 37 10 121582587 121582587 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 121582587 121582587 T C SNP INPP5F ENST00000361976 human ensembl 69_37n +1 known silent c.2037 p.P679 0.987 pfam_Inositol_phosphatase pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 134 0 0.00 147 51 25.76 - - - INTS1 0 genome.wustl.edu 37 7 1526286 1526286 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 1526286 1526286 A G SNP INTS1 ENST00000389470 human ensembl 69_37n -1 known missense c.3380 p.V1127A 1.000 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 29 0 0.00 14 14 50.00 - - - INTS2 0 genome.wustl.edu 37 17 59969042 59969042 + Missense_Mutation SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 59969042 59969042 A C SNP INTS2 ENST00000444766 human ensembl 69_37n -1 known missense c.1731 p.I577M 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 86 0 0.00 107 54 33.54 - - - INTS6 0 genome.wustl.edu 37 13 51957870 51957870 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 13 51957870 51957870 C T SNP INTS6 ENST00000311234 human ensembl 69_37n -1 known missense c.902 p.R301H 1.000 NULL pfam_VWF_A,pfscan_VWF_A - no_errors INTS6 HGNC ENSG00000102786 63 0 0.00 51 31 37.80 - - - INTS8 0 genome.wustl.edu 37 8 95861747 95861747 + Nonsense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 95861747 95861747 G A SNP INTS8 ENST00000520526 human ensembl 69_37n +1 novel nonsense c.783 p.W261* 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region INTS8 HGNC ENSG00000164941 60 0 0.00 69 21 23.33 - - - INTS8 0 genome.wustl.edu 37 8 95888477 95888477 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 95888477 95888477 T C SNP INTS8 ENST00000523731 human ensembl 69_37n +1 known missense c.2791 p.Y931H 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 136 0 0.00 203 32 13.62 - - - IQGAP3 0 genome.wustl.edu 37 1 156498340 156498340 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 156498340 156498340 T - DEL IQGAP3 ENST00000361170 human ensembl 69_37n -1 known frame_shift_del c.4634 p.K1545fs 1.000 pfam_RasGAP_C pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_RasGAP - no_errors IQGAP3 HGNC ENSG00000183856 43 0 0.00 72 13 14.94 - - - IRF5 0 genome.wustl.edu 37 7 128586562 128586563 + Frame_Shift_Ins INS - - C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 128586562 128586563 - C INS IRF5 ENST00000357234 human ensembl 69_37n +1 known frame_shift_ins c.393_394 p.E133fs 1.000:0.996 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF5 HGNC ENSG00000128604 167 0 0.00 157 31 16.49 - - - IRS4 0 genome.wustl.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 107977802 107977803 - C INS IRS4 ENST00000372129 human ensembl 69_37n -1 known frame_shift_ins c.1773_1772 p.K592fs 0.031:0.016 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 150 0 0.00 160 50 23.81 - - - ITGB6 0 genome.wustl.edu 37 2 161055738 161055738 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 161055738 161055738 A G SNP ITGB6 ENST00000283249 human ensembl 69_37n -1 known silent c.93 p.C31 0.998 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB6 HGNC ENSG00000115221 71 0 0.00 98 37 27.21 - - - ITGB8 0 genome.wustl.edu 37 7 20418860 20418860 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 20418860 20418860 T C SNP ITGB8 ENST00000222573 human ensembl 69_37n +1 known missense c.575 p.V192A 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N,prints_Integrin_bsu pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_EGF_extracell,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB8 HGNC ENSG00000105855 126 0 0.00 100 65 39.16 - - - ITIH6 0 genome.wustl.edu 37 X 54817417 54817417 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 54817417 54817417 C T SNP ITIH6 ENST00000218436 human ensembl 69_37n -1 known missense c.469 p.G157S 0.568 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH6 HGNC ENSG00000102313 87 0 0.00 110 25 18.52 - - - ITPR2 0 genome.wustl.edu 37 12 26703232 26703232 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 26703232 26703232 A T SNP ITPR2 ENST00000381340 human ensembl 69_37n -1 known missense c.5021 p.I1674N 1.000 superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR2 HGNC ENSG00000123104 109 0 0.00 184 53 22.36 - - - ITSN2 0 genome.wustl.edu 37 2 24535098 24535098 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 24535098 24535098 A G SNP ITSN2 ENST00000355123 human ensembl 69_37n -1 known missense c.335 p.L112S 0.983 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 66 0 0.00 53 38 41.76 - - - JRKL 0 genome.wustl.edu 37 11 96124811 96124811 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 96124811 96124811 C T SNP JRKL ENST00000332349 human ensembl 69_37n +1 known missense c.998 p.T333M 0.119 pfam_DDE_SF_endonuclease_CENPB-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq - no_errors JRKL HGNC ENSG00000183340 43 0 0.00 42 16 27.59 - - - KAT2A 0 genome.wustl.edu 37 17 40265785 40265785 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 40265785 40265785 C T SNP KAT2A ENST00000225916 human ensembl 69_37n -1 known missense c.2396 p.R799Q 1.000 pirsf_Hist_acetylase_PCAF,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom - no_errors KAT2A HGNC ENSG00000108773 31 0 0.00 7 10 55.56 - - - KBTBD6 0 genome.wustl.edu 37 13 41704703 41704703 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 13 41704703 41704703 A T SNP KBTBD6 ENST00000379485 human ensembl 69_37n -1 known missense c.1945 p.F649I 0.980 NULL pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD6 HGNC ENSG00000165572 98 0 0.00 101 15 12.93 - - - KBTBD7 0 genome.wustl.edu 37 13 41767525 41767525 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 13 41767525 41767525 T C SNP KBTBD7 ENST00000379483 human ensembl 69_37n -1 known missense c.869 p.Y290C 1.000 pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD7 HGNC ENSG00000120696 55 0 0.00 76 11 12.64 - - - KCNH3 0 genome.wustl.edu 37 12 49948243 49948243 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 49948243 49948243 G A SNP KCNH3 ENST00000257981 human ensembl 69_37n +1 known missense c.2042 p.S681N 1.000 pfam_cNMP-bd_dom,smart_cNMP-bd_dom pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 33 0 0.00 16 8 33.33 - - - KCNJ9 0 genome.wustl.edu 37 1 160054403 160054403 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 160054403 160054403 T A SNP KCNJ9 ENST00000368088 human ensembl 69_37n +1 known missense c.583 p.L195M 1.000 pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir_Cr2,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir3.3 - no_errors KCNJ9 HGNC ENSG00000162728 23 0 0.00 16 4 20.00 - - - KCNMA1 0 genome.wustl.edu 37 10 78651290 78651290 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 78651290 78651290 T C SNP KCNMA1 ENST00000406533 human ensembl 69_37n -1 known missense c.3347 p.D1116G 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 30 0 0.00 37 7 15.91 - - - KCNMA1 0 genome.wustl.edu 37 10 78704601 78704601 + Missense_Mutation SNP G G C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 78704601 78704601 G C SNP KCNMA1 ENST00000406533 human ensembl 69_37n -1 known missense c.2844 p.I948M 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_RCK_N,prints_K_chnl_Ca-activ_BK_asu,prints_K_chnl - no_errors KCNMA1 HGNC ENSG00000156113 129 0 0.00 153 23 13.07 - - - KCNQ2 0 genome.wustl.edu 37 20 62065196 62065196 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 62065196 62065196 A G SNP KCNQ2 ENST00000354587 human ensembl 69_37n -1 known missense c.1084 p.Y362H 1.000 NULL pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 103 0 0.00 110 48 30.19 - - - KCNQ4 0 genome.wustl.edu 37 1 41285020 41285020 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 41285020 41285020 A G SNP KCNQ4 ENST00000347132 human ensembl 69_37n +1 known missense c.710 p.E237G 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ4 HGNC ENSG00000117013 23 0 0.00 26 10 27.78 - - - KCNT1 0 genome.wustl.edu 37 9 138662203 138662203 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 138662203 138662203 A G SNP KCNT1 ENST00000298480 human ensembl 69_37n +1 known missense c.1679 p.E560G 1.000 pfam_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2 - no_errors KCNT1 HGNC ENSG00000107147 26 0 0.00 10 6 37.50 - - - KCTD10 0 genome.wustl.edu 37 12 109898454 109898454 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 109898454 109898454 T C SNP KCTD10 ENST00000228495 human ensembl 69_37n -1 known missense c.374 p.Q125R 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD10 HGNC ENSG00000110906 38 0 0.00 21 16 43.24 - - - KDM3A 0 genome.wustl.edu 37 2 86712078 86712078 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 86712078 86712078 T C SNP KDM3A ENST00000312912 human ensembl 69_37n +1 known silent c.3108 p.N1036 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 64 0 0.00 79 29 26.85 - - - KDM4C 0 genome.wustl.edu 37 9 7103861 7103861 + Frame_Shift_Del DEL C C - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 7103861 7103861 C - DEL KDM4C ENST00000381309 human ensembl 69_37n +1 known frame_shift_del c.2601 p.N869fs 0.947 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,superfamily_Chorismate_mutase_type_II,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 70 0 0.00 117 39 24.84 - - - KIAA0141 0 genome.wustl.edu 37 5 141309266 141309266 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 141309266 141309266 T A SNP KIAA0141 ENST00000194118 human ensembl 69_37n +1 known missense c.532 p.S178T 0.861 NULL pfam_Sel1-like,smart_Sel1-like - no_errors KIAA0141 HGNC ENSG00000081791 39 0 0.00 49 8 14.04 - - - KIAA0556 0 genome.wustl.edu 37 16 27788938 27788938 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 27788938 27788938 T C SNP KIAA0556 ENST00000261588 human ensembl 69_37n +1 known missense c.4559 p.V1520A 1.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 46 0 0.00 40 5 10.87 - - - KIAA0754 0 genome.wustl.edu 37 1 39877269 39877269 + Silent SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 39877269 39877269 A T SNP KIAA0754 ENST00000530275 human ensembl 69_37n +1 known silent c.924 p.S308 0.007 NULL NULL - no_errors KIAA0754 HGNC ENSG00000255103 53 0 0.00 83 29 25.89 - - - KIAA0922 0 genome.wustl.edu 37 4 154506765 154506765 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 154506765 154506765 T C SNP KIAA0922 ENST00000409959 human ensembl 69_37n +1 known splice_site c.1311+2 e13+2 1.000 - - - no_errors KIAA0922 HGNC ENSG00000121210 54 0 0.00 71 22 23.40 - - - KIAA1191 0 genome.wustl.edu 37 5 175782704 175782704 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 175782704 175782704 A G SNP KIAA1191 ENST00000298569 human ensembl 69_37n -1 known missense c.77 p.I26T 1.000 NULL NULL - no_errors KIAA1191 HGNC ENSG00000122203 18 0 0.00 17 11 39.29 - - - KIAA1217 0 genome.wustl.edu 37 10 24722057 24722057 + Silent SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 24722057 24722057 G T SNP KIAA1217 ENST00000376454 human ensembl 69_37n +1 known silent c.687 p.S229 0.334 pfam_AIP3_C pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 75 0 0.00 106 31 22.46 - - - KIAA1383 0 genome.wustl.edu 37 1 232942880 232942880 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 232942880 232942880 A G SNP KIAA1383 ENST00000418460 human ensembl 69_37n +1 known missense c.2111 p.Y704C 0.000 NULL NULL - no_errors KIAA1383 HGNC ENSG00000212916 38 0 0.00 36 17 32.08 - - - KIAA1407 0 genome.wustl.edu 37 3 113755558 113755558 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 113755558 113755558 T - DEL KIAA1407 ENST00000295878 human ensembl 69_37n -1 known frame_shift_del c.491 p.N164fs 1.000 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 180 0 0.00 205 65 24.07 - - - KIAA1429 0 genome.wustl.edu 37 8 95503934 95503934 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 95503934 95503934 A G SNP KIAA1429 ENST00000297591 human ensembl 69_37n -1 known missense c.5012 p.I1671T 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 149 0 0.00 215 64 22.94 - - - KIAA1614 0 genome.wustl.edu 37 1 180905640 180905640 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 180905640 180905640 C T SNP KIAA1614 ENST00000367588 human ensembl 69_37n +1 known silent c.2595 p.S865 0.004 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 46 0 0.00 37 11 22.92 - - - KIAA1967 0 genome.wustl.edu 37 8 22464757 22464757 + Missense_Mutation SNP G G C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 22464757 22464757 G C SNP KIAA1967 ENST00000308511 human ensembl 69_37n +1 known missense c.406 p.G136R 1.000 NULL superfamily_NA-bd_OB-fold-like - no_errors KIAA1967 HGNC ENSG00000158941 86 0 0.00 122 22 15.28 - - - KIF14 0 genome.wustl.edu 37 1 200584711 200584711 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 200584711 200584711 A G SNP KIF14 ENST00000367350 human ensembl 69_37n -1 known missense c.1139 p.V380A 0.998 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF14 HGNC ENSG00000118193 44 0 0.00 91 19 17.27 - - - KIF20B 0 genome.wustl.edu 37 10 91483862 91483862 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 91483862 91483862 T C SNP KIF20B ENST00000416354 human ensembl 69_37n +1 known splice_site c.1862+2 e13+2 1.000 - - - no_errors KIF20B HGNC ENSG00000138182 32 0 0.00 50 6 10.71 - - - KIF21A 0 genome.wustl.edu 37 12 39763645 39763645 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 39763645 39763645 A G SNP KIF21A ENST00000395670 human ensembl 69_37n -1 known silent c.336 p.G112 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Prefoldin,superfamily_ARM-type_fold,smart_Kinesin_motor_dom,smart_WD40_repeat,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors KIF21A HGNC ENSG00000139116 88 0 0.00 114 50 30.49 - - - KIF24 0 genome.wustl.edu 37 9 34256370 34256370 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 34256370 34256370 T G SNP KIF24 ENST00000379166 human ensembl 69_37n -1 known missense c.3235 p.S1079R 0.002 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 35 0 0.00 27 14 34.15 - - - KIF26B 0 genome.wustl.edu 37 1 245583020 245583020 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 245583020 245583020 C T SNP KIF26B ENST00000407071 human ensembl 69_37n +1 known missense c.1139 p.T380I 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 48 0 0.00 60 26 30.23 - - - KIF6 0 genome.wustl.edu 37 6 39563938 39563938 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 39563938 39563938 G T SNP KIF6 ENST00000458470 human ensembl 69_37n -1 known missense c.413 p.S138Y 0.932 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region KIF6 HGNC ENSG00000164627 92 0 0.00 133 29 17.79 - - - KIFC3 0 genome.wustl.edu 37 16 57795058 57795058 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 57795058 57795058 C T SNP KIFC3 ENST00000379655 human ensembl 69_37n -1 known missense c.1898 p.R633H 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC3 HGNC ENSG00000140859 107 0 0.00 102 19 15.70 - - - KISS1 0 genome.wustl.edu 37 1 204161941 204161941 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 204161941 204161941 A T SNP KISS1 ENST00000367194 human ensembl 69_37n -1 known missense c.64 p.L22I 0.000 NULL NULL - no_errors KISS1 HGNC ENSG00000170498 56 0 0.00 99 19 16.10 - - - KLHL13 0 genome.wustl.edu 37 X 117053569 117053569 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 117053569 117053569 T C SNP KLHL13 ENST00000539496 human ensembl 69_37n -1 known missense c.494 p.D165G 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,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 KLHL13 HGNC ENSG00000003096 53 0 0.00 58 22 27.50 - - - KLHL14 0 genome.wustl.edu 37 18 30267120 30267120 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 18 30267120 30267120 T C SNP KLHL14 ENST00000359358 human ensembl 69_37n -1 known silent c.1236 p.E412 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL14 HGNC ENSG00000197705 78 0 0.00 42 20 32.26 - - - KLHL4 0 genome.wustl.edu 37 X 86888818 86888818 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 86888818 86888818 T C SNP KLHL4 ENST00000373114 human ensembl 69_37n +1 known missense c.1619 p.V540A 1.000 pfam_Kelch_1,smart_Kelch_1 pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 85 0 0.00 117 21 15.11 - - - KLHL9 0 genome.wustl.edu 37 9 21334379 21334379 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 21334379 21334379 A G SNP KLHL9 ENST00000359039 human ensembl 69_37n -1 known silent c.480 p.I160 0.922 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 KLHL9 HGNC ENSG00000198642 17 0 0.00 44 12 21.43 - - - KNDC1 0 genome.wustl.edu 37 10 135038192 135038192 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 135038192 135038192 A G SNP KNDC1 ENST00000368572 human ensembl 69_37n +1 known missense c.5054 p.H1685R 1.000 superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 41 0 0.00 36 5 12.20 - - - KPNA2 0 genome.wustl.edu 37 17 66040147 66040147 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 66040147 66040147 A G SNP KPNA2 ENST00000330459 human ensembl 69_37n +1 known missense c.1124 p.N375S 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA2 HGNC ENSG00000182481 98 0 0.00 132 42 24.14 - - - KPNA5 0 genome.wustl.edu 37 6 117013467 117013467 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 117013467 117013467 T C SNP KPNA5 ENST00000356348 human ensembl 69_37n +1 known silent c.252 p.V84 0.998 pfam_Importin-a_IBB,superfamily_ARM-type_fold pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA5 HGNC ENSG00000196911 139 0 0.00 185 27 12.74 - - - KPRP 0 genome.wustl.edu 37 1 152733330 152733330 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 152733330 152733330 T C SNP KPRP ENST00000368773 human ensembl 69_37n +1 known silent c.1266 p.P422 0.004 NULL NULL - no_errors KPRP HGNC ENSG00000203786 139 0 0.00 152 45 22.84 - - - KRTAP10-4 0 genome.wustl.edu 37 21 45994019 45994019 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 21 45994019 45994019 C T SNP KRTAP10-4 ENST00000400374 human ensembl 69_37n +1 known silent c.384 p.V128 0.083 NULL NULL - no_errors KRTAP10-4 HGNC ENSG00000215454 219 0 0.00 161 75 31.78 - - - KRTAP13-4 0 genome.wustl.edu 37 21 31802706 31802706 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 21 31802706 31802706 C A SNP KRTAP13-4 ENST00000334068 human ensembl 69_37n +1 known missense c.113 p.P38H 0.980 pfam_PMG pfam_PMG - no_errors KRTAP13-4 HGNC ENSG00000186971 82 0 0.00 99 30 23.26 - - - LAMA2 0 genome.wustl.edu 37 6 129637010 129637010 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 129637010 129637010 C A SNP LAMA2 ENST00000421865 human ensembl 69_37n +1 known missense c.3839 p.T1280K 0.999 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 75 0 0.00 69 100 59.17 - - - LAMA5 0 genome.wustl.edu 37 20 60904938 60904938 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 60904938 60904938 G A SNP LAMA5 ENST00000252999 human ensembl 69_37n -1 known silent c.4014 p.Y1338 0.925 NULL pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 20 0 0.00 6 9 60.00 - - - LAMA5 0 genome.wustl.edu 37 20 60906104 60906104 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 60906104 60906104 C T SNP LAMA5 ENST00000252999 human ensembl 69_37n -1 known missense c.3634 p.A1212T 0.001 NULL pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 29 0 0.00 22 8 26.67 - - - LAMB2 0 genome.wustl.edu 37 3 49168278 49168278 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 49168278 49168278 T C SNP LAMB2 ENST00000305544 human ensembl 69_37n -1 known missense c.931 p.I311V 0.553 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 107 0 0.00 87 27 23.68 - - - LBR 0 genome.wustl.edu 37 1 225605767 225605767 + Missense_Mutation SNP C C G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 225605767 225605767 C G SNP LBR ENST00000272163 human ensembl 69_37n -1 known missense c.756 p.E252D 0.000 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 59 0 0.00 119 33 21.71 - - - LCA5 0 genome.wustl.edu 37 6 80228535 80228535 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 80228535 80228535 T - DEL LCA5 ENST00000369846 human ensembl 69_37n -1 known frame_shift_del c.77 p.D26fs 0.983 NULL NULL - no_errors LCA5 HGNC ENSG00000135338 91 0 0.00 234 61 16.09 - - - LCA5L 0 genome.wustl.edu 37 21 40778156 40778156 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 21 40778156 40778156 T C SNP LCA5L ENST00000288350 human ensembl 69_37n -1 known silent c.1665 p.T555 0.000 NULL NULL - no_errors LCA5L HGNC ENSG00000157578 80 0 0.00 149 54 26.60 - - - LCAT 0 genome.wustl.edu 37 16 67977876 67977876 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 67977876 67977876 A G SNP LCAT ENST00000264005 human ensembl 69_37n -1 known silent c.129 p.S43 1.000 NULL pfam_LACT/PDAT_acylTrfase - no_errors LCAT HGNC ENSG00000213398 37 0 0.00 16 8 33.33 - - - LCLAT1 0 genome.wustl.edu 37 2 30863518 30863518 + RNA SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 30863518 30863518 C T SNP LCLAT1 ENST00000491680 human ensembl 69_37n +1 known rna NULL NULL 0.017 - - - no_errors LCLAT1 HGNC ENSG00000172954 44 0 0.00 26 20 43.48 - - - LGR6 0 genome.wustl.edu 37 1 202287366 202287366 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 202287366 202287366 T C SNP LGR6 ENST00000367278 human ensembl 69_37n +1 known silent c.1935 p.T645 0.001 pfam_7TM_GPCR_Rhodpsn,prints_Gphrmn_rcpt pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 38 0 0.00 28 10 26.32 - - - LHFPL5 0 genome.wustl.edu 37 6 35773537 35773537 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 35773537 35773537 T C SNP LHFPL5 ENST00000360215 human ensembl 69_37n +1 known silent c.90 p.G30 0.960 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL5 HGNC ENSG00000197753 115 0 0.00 132 24 15.00 - - - LILRA2 0 genome.wustl.edu 37 19 55085971 55085971 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 55085971 55085971 G A SNP LILRA2 ENST00000251377 human ensembl 69_37n +1 known missense c.274 p.A92T 0.295 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like - no_errors LILRA2 HGNC ENSG00000239998 88 0 0.00 115 45 28.12 - - - LIMCH1 0 genome.wustl.edu 37 4 41608009 41608009 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 41608009 41608009 T C SNP LIMCH1 ENST00000313860 human ensembl 69_37n +1 known silent c.474 p.A158 0.999 superfamily_CH-domain pfam_CH-domain,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_SM22_calponin,prints_Calponin - no_errors LIMCH1 HGNC ENSG00000064042 126 0 0.00 94 63 40.13 - - - LNX1 0 genome.wustl.edu 37 4 54364970 54364970 + Silent SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 54364970 54364970 A T SNP LNX1 ENST00000263925 human ensembl 69_37n -1 known silent c.816 p.I272 0.989 superfamily_PDZ pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC ENSG00000072201 63 0 0.00 44 30 40.54 - - - LPP 0 genome.wustl.edu 37 3 188478051 188478051 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 188478051 188478051 A G SNP LPP ENST00000312675 human ensembl 69_37n +1 known missense c.1391 p.Y464C 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LPP HGNC ENSG00000145012 124 0 0.00 170 74 30.20 - - - LPPR3 0 genome.wustl.edu 37 19 814468 814468 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 814468 814468 C T SNP LPPR3 ENST00000359894 human ensembl 69_37n -1 known missense c.881 p.G294D 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors hsa-mir-3187 miRBase ENSG00000129951 21 0 0.00 21 6 22.22 - - - LRP5 0 genome.wustl.edu 37 11 68174114 68174114 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 68174114 68174114 G T SNP LRP5 ENST00000294304 human ensembl 69_37n +1 known missense c.1924 p.V642L 0.983 pirsf_Low_density_Lipo_rcpt-rel_p5/6 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 45 0 0.00 21 11 34.38 - - - LRR1 0 genome.wustl.edu 37 14 50065893 50065893 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 50065893 50065893 T C SNP LRR1 ENST00000298288 human ensembl 69_37n +1 known missense c.155 p.L52P 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRR1 HGNC ENSG00000165501 30 0 0.00 16 12 42.86 - - - LRRC16A 0 genome.wustl.edu 37 6 25510790 25510790 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 25510790 25510790 A G SNP LRRC16A ENST00000329474 human ensembl 69_37n +1 novel missense c.1533 p.I511M 0.984 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 146 0 0.00 187 40 17.62 - - - LRRC27 0 genome.wustl.edu 37 10 134158119 134158119 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 134158119 134158119 T C SNP LRRC27 ENST00000368613 human ensembl 69_37n +1 known missense c.518 p.V173A 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC27 HGNC ENSG00000148814 52 0 0.00 38 20 34.48 - - - LRRC37A4P 0 genome.wustl.edu 37 17 43585807 43585807 + RNA SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 43585807 43585807 G T SNP LRRC37A4P ENST00000579913 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors LRRC37A4P HGNC ENSG00000214425 172 0 0.00 117 77 39.69 - - - LRRK1 0 genome.wustl.edu 37 15 101523888 101523888 + Missense_Mutation SNP G G C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 101523888 101523888 G C SNP LRRK1 ENST00000388948 human ensembl 69_37n +1 known missense c.417 p.L139F 0.569 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors LRRK1 HGNC ENSG00000154237 49 0 0.00 107 36 25.17 - - - LRRK1 0 genome.wustl.edu 37 15 101593286 101593286 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 101593286 101593286 A G SNP LRRK1 ENST00000388948 human ensembl 69_37n +1 known silent c.3849 p.V1283 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,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors LRRK1 HGNC ENSG00000154237 24 0 0.00 70 10 12.50 - - - LTN1 0 genome.wustl.edu 37 21 30339479 30339479 + Missense_Mutation SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 21 30339479 30339479 A C SNP LTN1 ENST00000361371 human ensembl 69_37n -1 known missense c.1334 p.V445G 0.994 superfamily_ARM-type_fold pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 73 0 0.00 88 35 28.46 - - - LY6D 0 genome.wustl.edu 37 8 143866694 143866694 + Silent SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 143866694 143866694 G T SNP LY6D ENST00000301263 human ensembl 69_37n -1 known silent c.330 p.A110 0.173 NULL pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LY6D HGNC ENSG00000167656 68 0 0.00 56 16 22.22 - - - LY75 0 genome.wustl.edu 37 2 160711424 160711424 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 160711424 160711424 A G SNP LY75 ENST00000554112 human ensembl 69_37n -1 known missense c.2410 p.Y804H 1.000 NULL pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 182 0 0.00 247 38 13.29 - - - LYST 0 genome.wustl.edu 37 1 235904748 235904748 + Missense_Mutation SNP G G C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 235904748 235904748 G C SNP LYST ENST00000389793 human ensembl 69_37n -1 known missense c.8332 p.R2778G 0.753 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 127 0 0.00 194 46 19.17 - - - MAD2L1 0 genome.wustl.edu 37 4 120983199 120983199 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 120983199 120983199 A T SNP MAD2L1 ENST00000296509 human ensembl 69_37n -1 known missense c.272 p.I91N 1.000 pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd pfam_HORMA_DNA-bd,superfamily_HORMA_DNA-bd,pfscan_HORMA_DNA-bd - no_errors MAD2L1 HGNC ENSG00000164109 196 0 0.00 176 49 21.78 - - - MAGEA8 0 genome.wustl.edu 37 X 149013887 149013888 + Frame_Shift_Ins INS - - T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 149013887 149013888 - T INS MAGEA8 ENST00000286482 human ensembl 69_37n +1 known frame_shift_ins c.841_842 p.A282fs 0.020:0.020 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA8 HGNC ENSG00000156009 46 0 0.00 59 20 25.32 - - - MAGI1 0 genome.wustl.edu 37 3 65342309 65342309 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 65342309 65342309 A T SNP MAGI1 ENST00000402939 human ensembl 69_37n -1 known missense c.4133 p.L1378Q 0.451 NULL pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin - no_errors MAGI1 HGNC ENSG00000151276 45 0 0.00 30 16 34.78 - - - MAN2B1 0 genome.wustl.edu 37 19 12769127 12769127 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 12769127 12769127 C T SNP MAN2B1 ENST00000456935 human ensembl 69_37n -1 known missense c.1141 p.A381T 1.000 pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B1 HGNC ENSG00000104774 49 0 0.00 55 18 24.66 - - - MAN2B2 0 genome.wustl.edu 37 4 6594959 6594959 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 6594959 6594959 A G SNP MAN2B2 ENST00000285599 human ensembl 69_37n +1 known missense c.740 p.Y247C 1.000 pfam_Glyco_hydro_38_core,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_core,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2B2 HGNC ENSG00000013288 91 0 0.00 47 27 34.18 - - - MAP1A 0 genome.wustl.edu 37 15 43816227 43816227 + Silent SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 43816227 43816227 C A SNP MAP1A ENST00000399453 human ensembl 69_37n +1 known silent c.2556 p.A852 0.991 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 46 0 0.00 59 9 13.24 - - - MAP2K1 0 genome.wustl.edu 37 15 66727540 66727540 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 66727540 66727540 T G SNP MAP2K1 ENST00000307102 human ensembl 69_37n +1 known missense c.256 p.S86A 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K1 HGNC ENSG00000169032 55 0 0.00 117 24 16.90 - - - MAP3K14 0 genome.wustl.edu 37 17 43367862 43367862 + RNA SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 43367862 43367862 C A SNP MAP3K14 ENST00000344686 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors MAP3K14 HGNC ENSG00000006062 68 0 0.00 27 22 44.90 - - - MAP7D1 0 genome.wustl.edu 37 1 36636587 36636587 + Frame_Shift_Del DEL C C - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 36636587 36636587 C - DEL MAP7D1 ENST00000373151 human ensembl 69_37n +1 known frame_shift_del c.62 p.P23fs 0.700 NULL pfam_E-MAP-115 - no_errors MAP7D1 HGNC ENSG00000116871 22 0 0.00 24 12 32.43 - - - MAPK8IP2 0 genome.wustl.edu 37 22 51043991 51043991 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 22 51043991 51043991 T C SNP MAPK8IP2 ENST00000329492 human ensembl 69_37n +1 known missense c.1840 p.F614L 1.000 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_PTyr_interaction_dom,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom,pfscan_SH3_domain - no_errors MAPK8IP2 HGNC ENSG00000008735 33 0 0.00 7 7 46.67 - - - MAS1L 0 genome.wustl.edu 37 6 29454984 29454984 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 29454984 29454984 A G SNP MAS1L ENST00000377127 human ensembl 69_37n -1 known silent c.696 p.H232 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MAS1L HGNC ENSG00000204687 13 0 0.00 24 7 22.58 - - - MBD3L4 0 genome.wustl.edu 37 19 7040141 7040141 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 7040141 7040141 C T SNP MBD3L4 ENST00000381394 human ensembl 69_37n -1 known silent c.15 p.A5 0.000 NULL NULL - no_errors MBD3L4 HGNC ENSG00000205718 55 0 0.00 66 31 31.96 - - - MC4R 0 genome.wustl.edu 37 18 58038839 58038839 + Silent SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 18 58038839 58038839 G T SNP MC4R ENST00000299766 human ensembl 69_37n -1 known silent c.744 p.T248 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Melcrt_ACTH_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Melcrt_ACTH_rcpt,prints_Mcort_rcpt_4,prints_7TM_GPCR_Rhodpsn,prints_Melancort_rcpt,prints_Cnbnoid_rcpt - no_errors MC4R HGNC ENSG00000166603 34 0 0.00 43 14 24.56 - - - MCPH1 0 genome.wustl.edu 37 8 6302399 6302399 + Nonsense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 6302399 6302399 C T SNP MCPH1 ENST00000344683 human ensembl 69_37n +1 known nonsense c.1156 p.Q386* 0.001 pfam_Microcephalin pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors MCPH1 HGNC ENSG00000147316 25 0 0.00 35 10 22.22 - - - MED4 0 genome.wustl.edu 37 13 48660424 48660424 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 13 48660424 48660424 T G SNP MED4 ENST00000258648 human ensembl 69_37n -1 known missense c.357 p.Q119H 0.325 pfam_Mediator_Med4 pfam_Mediator_Med4 - no_errors MED4 HGNC ENSG00000136146 217 0 0.00 215 48 18.18 - - - MED4 0 genome.wustl.edu 37 13 48660516 48660516 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 13 48660516 48660516 T G SNP MED4 ENST00000258648 human ensembl 69_37n -1 known missense c.265 p.I89L 0.997 pfam_Mediator_Med4 pfam_Mediator_Med4 - no_errors MED4 HGNC ENSG00000136146 181 0 0.00 179 42 19.00 - - - MEFV 0 genome.wustl.edu 37 16 3293879 3293879 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 3293879 3293879 A T SNP MEFV ENST00000541159 human ensembl 69_37n -1 putative missense c.1315 p.W439R 0.000 NULL pfam_DAPIN,pfam_Znf_B-box,superfamily_DEATH-like,smart_Znf_B-box,pfscan_DAPIN,pfscan_Znf_B-box - no_errors MEFV HGNC ENSG00000103313 44 0 0.00 23 29 55.77 - - - MEP1A 0 genome.wustl.edu 37 6 46793031 46793031 + Silent SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 46793031 46793031 C A SNP MEP1A ENST00000230588 human ensembl 69_37n +1 known silent c.579 p.T193 0.998 pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,smart_Peptidase_Metallo 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 66 0 0.00 70 52 42.62 - - - MEP1A 0 genome.wustl.edu 37 6 46802999 46802999 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 46802999 46802999 C T SNP MEP1A ENST00000230588 human ensembl 69_37n +1 known silent c.1797 p.L599 0.011 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 24 0 0.00 23 15 39.47 - - - MFHAS1 0 genome.wustl.edu 37 8 8747996 8747996 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 8747996 8747996 A T SNP MFHAS1 ENST00000276282 human ensembl 69_37n -1 known missense c.2573 p.V858E 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors MFHAS1 HGNC ENSG00000147324 29 0 0.00 37 22 37.29 - - - MFI2 0 genome.wustl.edu 37 3 196749976 196749976 + Missense_Mutation SNP C C G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 196749976 196749976 C G SNP MFI2 ENST00000296350 human ensembl 69_37n -1 known missense c.496 p.D166H 0.015 pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60 pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60 - no_errors MFI2 HGNC ENSG00000163975 18 0 0.00 11 20 64.52 - - - MIA3 0 genome.wustl.edu 37 1 222825650 222825650 + Silent SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 222825650 222825650 T A SNP MIA3 ENST00000344441 human ensembl 69_37n +1 known silent c.4062 p.A1354 0.035 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA3 HGNC ENSG00000154305 100 0 0.00 102 47 31.54 - - - MICAL2 0 genome.wustl.edu 37 11 12281437 12281437 + Frame_Shift_Del DEL C C - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 12281437 12281437 C - DEL MICAL2 ENST00000256194 human ensembl 69_37n +1 known frame_shift_del c.3327 p.P1111fs 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,prints_Rng_hydrolase-like,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICAL2 HGNC ENSG00000133816 47 0 0.00 54 26 32.10 - - - MINA 0 genome.wustl.edu 37 3 97673260 97673260 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 97673260 97673260 A G SNP MINA ENST00000333396 human ensembl 69_37n -1 known missense c.761 p.V254A 1.000 pfam_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfscan_JmjC_dom - no_errors MINA HGNC ENSG00000170854 93 0 0.00 107 42 28.19 - - - MIR1257 0 genome.wustl.edu 37 20 60528663 60528663 + RNA SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 60528663 60528663 C T SNP MIR1257 ENST00000408490 human ensembl 69_37n -1 known rna NULL NULL 0.011 - - - no_errors MIR1257 HGNC ENSG00000221417 26 0 0.00 26 8 23.53 - - - MIR181C 0 genome.wustl.edu 37 19 13985568 13985568 + RNA SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 13985568 13985568 G A SNP MIR181C ENST00000384881 human ensembl 69_37n +1 known rna NULL NULL 0.981 - - - no_errors MIR181C HGNC ENSG00000207613 66 0 0.00 77 11 12.50 - - - MLEC 0 genome.wustl.edu 37 12 121132901 121132901 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 121132901 121132901 T C SNP MLEC ENST00000228506 human ensembl 69_37n +1 known missense c.595 p.Y199H 1.000 pfam_Malectin pfam_Malectin - no_errors MLEC HGNC ENSG00000110917 279 0 0.00 178 138 43.26 - - - MLH1 0 genome.wustl.edu 37 3 37045916 37045916 + Missense_Mutation SNP G G C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 37045916 37045916 G C SNP MLH1 ENST00000231790 human ensembl 69_37n +1 known missense c.331 p.A111P 1.000 pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,tigrfam_DNA_mismatch_repair_N pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,tigrfam_DNA_mismatch_repair_N - no_errors MLH1 HGNC ENSG00000076242 126 0 0.00 89 68 43.31 - - - MLH3 0 genome.wustl.edu 37 14 75516229 75516229 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 75516229 75516229 T C SNP MLH3 ENST00000355774 human ensembl 69_37n -1 known missense c.130 p.R44G 1.000 pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_WW_Rsp5_WWP,smart_MutL_C - no_errors MLH3 HGNC ENSG00000119684 44 0 0.00 51 23 31.08 - - - MLL 0 genome.wustl.edu 37 11 118366575 118366575 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 118366575 118366575 A G SNP MLL ENST00000389506 human ensembl 69_37n +1 known missense c.5515 p.T1839A 0.995 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors MLL HGNC ENSG00000118058 65 0 0.00 56 33 36.26 - - - MLLT4 0 genome.wustl.edu 37 6 168352743 168352743 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 168352743 168352743 A G SNP MLLT4 ENST00000366806 human ensembl 69_37n +1 known missense c.4688 p.E1563G 1.000 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 33 0 0.00 23 27 54.00 - - - MLLT4 0 genome.wustl.edu 37 6 168369817 168369817 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 168369817 168369817 A T SNP MLLT4 ENST00000366806 human ensembl 69_37n +1 known missense c.5260 p.T1754S 0.002 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 71 0 0.00 115 24 17.27 - - - MMD 0 genome.wustl.edu 37 17 53481166 53481166 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 53481166 53481166 T C SNP MMD ENST00000262065 human ensembl 69_37n -1 known silent c.408 p.A136 1.000 pfam_HlyIII-related,tigrfam_HylIII pfam_HlyIII-related,tigrfam_HylIII - no_errors MMD HGNC ENSG00000108960 48 0 0.00 29 18 38.30 - - - MMRN1 0 genome.wustl.edu 37 4 90816143 90816143 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 90816143 90816143 T G SNP MMRN1 ENST00000264790 human ensembl 69_37n +1 known missense c.21 p.F7L 0.973 NULL pfam_C1q,pfam_EMI_domain,pfam_EGF-like_dom,superfamily_Tumour_necrosis_fac-like,smart_EGF-like,smart_EGF-like_Ca-bd,smart_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain,prints_C1q - no_errors MMRN1 HGNC ENSG00000138722 39 0 0.00 30 16 34.78 - - - MPDZ 0 genome.wustl.edu 37 9 13216858 13216858 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 13216858 13216858 G T SNP MPDZ ENST00000319217 human ensembl 69_37n -1 known missense c.1205 p.P402H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 157 0 0.00 302 64 17.44 - - - MPRIP 0 genome.wustl.edu 37 17 17053480 17053480 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 17053480 17053480 T A SNP MPRIP ENST00000395811 human ensembl 69_37n +1 known missense c.1298 p.I433N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,superfamily_Ferritin/RR-like,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors MPRIP HGNC ENSG00000133030 63 0 0.00 40 15 27.27 - - - MRC2 0 genome.wustl.edu 37 17 60751429 60751429 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 60751429 60751429 C T SNP MRC2 ENST00000303375 human ensembl 69_37n +1 known silent c.1467 p.G489 0.912 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,prints_AntifreezeII,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors MRC2 HGNC ENSG00000011028 41 0 0.00 30 23 43.40 - - - MRGPRX1 0 genome.wustl.edu 37 11 18955941 18955941 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 18955941 18955941 G A SNP MRGPRX1 ENST00000302797 human ensembl 69_37n -1 known missense c.391 p.R131C 0.124 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC ENSG00000170255 129 0 0.00 154 29 15.85 - - - MRPS26 0 genome.wustl.edu 37 20 3028480 3028480 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 3028480 3028480 G T SNP MRPS26 ENST00000380325 human ensembl 69_37n +1 known missense c.583 p.G195W 0.999 NULL NULL - no_errors MRPS26 HGNC ENSG00000125901 25 0 0.00 29 13 30.95 - - - MTA2 0 genome.wustl.edu 37 11 62365601 62365601 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 62365601 62365601 A - DEL MTA2 ENST00000278823 human ensembl 69_37n -1 known frame_shift_del c.385 p.Y129fs 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA2 HGNC ENSG00000149480 78 0 0.00 52 36 40.00 - - - MTMR14 0 genome.wustl.edu 37 3 9730753 9730753 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 9730753 9730753 A G SNP MTMR14 ENST00000296003 human ensembl 69_37n +1 known missense c.1420 p.T474A 0.906 NULL NULL - no_errors MTMR14 HGNC ENSG00000163719 32 0 0.00 55 12 17.91 - - - MTMR3 0 genome.wustl.edu 37 22 30415722 30415722 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 22 30415722 30415722 A G SNP MTMR3 ENST00000401950 human ensembl 69_37n +1 known missense c.2074 p.I692V 1.000 NULL pfam_Myotub-related,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Tyr_Pase_cat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors MTMR3 HGNC ENSG00000100330 41 0 0.00 51 23 31.08 - - - MUC12 0 genome.wustl.edu 37 7 100636691 100636691 + Silent SNP C C G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 100636691 100636691 C G SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known silent c.3276 p.L1092 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 164 0 0.00 205 51 19.92 - - - MUC16 0 genome.wustl.edu 37 19 9066859 9066859 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 9066859 9066859 T C SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.20587 p.T6863A 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 182 1 0.54 234 42 15.00 - - - MUC16 0 genome.wustl.edu 37 19 9077821 9077821 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 9077821 9077821 T C SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.9625 p.M3209V 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 83 0 0.00 60 32 34.41 - - - MUC16 0 genome.wustl.edu 37 19 9083271 9083271 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 9083271 9083271 T C SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.8544 p.I2848M 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 176 1 0.56 125 73 36.50 - - - MUSK 0 genome.wustl.edu 37 9 113562979 113562979 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 113562979 113562979 T - DEL MUSK ENST00000189978 human ensembl 69_37n +1 known frame_shift_del c.2339 p.Y782fs 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MUSK HGNC ENSG00000030304 61 0 0.00 79 10 11.11 - - - MYH10 0 genome.wustl.edu 37 17 8480563 8480563 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 8480563 8480563 A G SNP MYH10 ENST00000396239 human ensembl 69_37n -1 known silent c.624 p.H208 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_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 93 0 0.00 77 55 41.67 - - - MYH9 0 genome.wustl.edu 37 22 36700141 36700141 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 22 36700141 36700141 G A SNP MYH9 ENST00000216181 human ensembl 69_37n -1 known missense c.2290 p.R764C 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 36 0 0.00 26 14 35.00 - - - MYNN 0 genome.wustl.edu 37 3 169500427 169500427 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 169500427 169500427 T A SNP MYNN ENST00000349841 human ensembl 69_37n +1 known missense c.1395 p.H465Q 0.996 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors MYNN HGNC ENSG00000085274 95 0 0.00 167 37 18.14 - - - MYO9A 0 genome.wustl.edu 37 15 72146807 72146807 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 72146807 72146807 A G SNP MYO9A ENST00000424560 human ensembl 69_37n -1 known missense c.6470 p.I2157T 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 76 0 0.00 116 22 15.94 - - - MYO9A 0 genome.wustl.edu 37 15 72152111 72152111 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 72152111 72152111 A G SNP MYO9A ENST00000424560 human ensembl 69_37n -1 known missense c.6331 p.C2111R 1.000 smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 114 0 0.00 134 44 24.58 - - - MYOM3 0 genome.wustl.edu 37 1 24393521 24393521 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 24393521 24393521 A G SNP MYOM3 ENST00000330966 human ensembl 69_37n -1 known missense c.3422 p.L1141P 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM3 HGNC ENSG00000142661 37 0 0.00 13 7 35.00 - - - MYOT 0 genome.wustl.edu 37 5 137219153 137219153 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 137219153 137219153 A G SNP MYOT ENST00000239926 human ensembl 69_37n +1 known missense c.897 p.I299M 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MYOT HGNC ENSG00000120729 99 0 0.00 103 58 36.02 - - - N4BP2L2 0 genome.wustl.edu 37 13 33110048 33110048 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 13 33110048 33110048 A G SNP N4BP2L2 ENST00000267068 human ensembl 69_37n -1 known missense c.1117 p.W373R 0.985 NULL pfam_Zeta_toxin_domain - no_errors N4BP2L2 HGNC ENSG00000244754 67 0 0.00 85 51 37.23 - - - NAA15 0 genome.wustl.edu 37 4 140265461 140265461 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 140265461 140265461 T A SNP NAA15 ENST00000296543 human ensembl 69_37n +1 known missense c.659 p.I220N 1.000 pirsf_NatA_aux_su pfam_NatA_aux_su,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NAA15 HGNC ENSG00000164134 83 0 0.00 77 42 35.29 - - - NAALAD2 0 genome.wustl.edu 37 11 89891367 89891367 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 89891367 89891367 T C SNP NAALAD2 ENST00000534061 human ensembl 69_37n +1 known missense c.851 p.V284A 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALAD2 HGNC ENSG00000077616 56 0 0.00 56 19 25.33 - - - NAALADL2 0 genome.wustl.edu 37 3 174951810 174951810 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 174951810 174951810 T C SNP NAALADL2 ENST00000454872 human ensembl 69_37n +1 known missense c.635 p.V212A 0.587 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 77 0 0.00 131 24 15.48 - - - NAT9 0 genome.wustl.edu 37 17 72767957 72767957 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 72767957 72767957 A G SNP NAT9 ENST00000357814 human ensembl 69_37n -1 known missense c.530 p.L177P 0.401 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors NAT9 HGNC ENSG00000109065 54 0 0.00 59 30 33.71 - - - NAV2 0 genome.wustl.edu 37 11 20057565 20057565 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 20057565 20057565 T C SNP NAV2 ENST00000396087 human ensembl 69_37n +1 known silent c.2898 p.T966 0.810 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 144 0 0.00 151 65 30.09 - - - NBEAL1 0 genome.wustl.edu 37 2 204022515 204022515 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 204022515 204022515 T A SNP NBEAL1 ENST00000449802 human ensembl 69_37n +1 known missense c.5594 p.L1865H 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 75 0 0.00 119 41 25.62 - - - NCOA1 0 genome.wustl.edu 37 2 24980898 24980898 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 24980898 24980898 A G SNP NCOA1 ENST00000348332 human ensembl 69_37n +1 known missense c.3938 p.N1313S 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors NCOA1 HGNC ENSG00000084676 107 0 0.00 70 66 48.53 - - - NDUFB10 0 genome.wustl.edu 37 16 2011613 2011613 + Splice_Site SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 2011613 2011613 G A SNP NDUFB10 ENST00000570172 human ensembl 69_37n +1 novel splice_site c.384+1 e3+1 0.924 - - - no_stop_codon:bad_bp_length_for_coding_region NDUFB10 HGNC ENSG00000140990 41 0 0.00 32 20 38.46 - - - NDUFV3 0 genome.wustl.edu 37 21 44323880 44323880 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 21 44323880 44323880 A G SNP NDUFV3 ENST00000354250 human ensembl 69_37n +1 known missense c.758 p.Q253R 0.000 NULL NULL - no_errors NDUFV3 HGNC ENSG00000160194 41 0 0.00 37 13 26.00 - - - NEB 0 genome.wustl.edu 37 2 152450704 152450704 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 152450704 152450704 T C SNP NEB ENST00000397345 human ensembl 69_37n -1 known silent c.14334 p.K4778 0.966 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 35 0 0.00 44 16 26.23 - - - NEB 0 genome.wustl.edu 37 2 152541344 152541344 + Frame_Shift_Del DEL G G - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 152541344 152541344 G - DEL NEB ENST00000397345 human ensembl 69_37n -1 known frame_shift_del c.2783 p.P928fs 0.564 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 99 0 0.00 113 22 16.06 - - - NES 0 genome.wustl.edu 37 1 156639821 156639821 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 156639821 156639821 C T SNP NES ENST00000368223 human ensembl 69_37n -1 known missense c.4159 p.A1387T 0.000 NULL pfam_F - no_errors NES HGNC ENSG00000132688 23 0 0.00 19 6 24.00 - - - NETO2 0 genome.wustl.edu 37 16 47117199 47117199 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 47117199 47117199 A G SNP NETO2 ENST00000562435 human ensembl 69_37n -1 known missense c.1511 p.I504T 1.000 NULL pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors NETO2 HGNC ENSG00000171208 118 0 0.00 160 42 20.79 - - - NF1 0 genome.wustl.edu 37 17 29563041 29563041 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 29563041 29563041 T C SNP NF1 ENST00000358273 human ensembl 69_37n +1 known splice_site c.3974+2 e29+2 1.000 - - - no_errors NF1 HGNC ENSG00000196712 74 0 0.00 53 34 39.08 - - - NFAT5 0 genome.wustl.edu 37 16 69693765 69693765 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 69693765 69693765 T C SNP NFAT5 ENST00000432919 human ensembl 69_37n +1 known silent c.1332 p.T444 0.971 superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NFAT pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 83 0 0.00 86 36 29.51 - - - NFE2L1 0 genome.wustl.edu 37 17 46133761 46133761 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 46133761 46133761 T A SNP NFE2L1 ENST00000362042 human ensembl 69_37n +1 known missense c.524 p.I175N 1.000 NULL pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2L1 HGNC ENSG00000082641 122 0 0.00 157 55 25.94 - - - NGEF 0 genome.wustl.edu 37 2 233791755 233791755 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 233791755 233791755 T C SNP NGEF ENST00000264051 human ensembl 69_37n -1 known missense c.525 p.I175M 1.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors NGEF HGNC ENSG00000066248 43 0 0.00 42 5 10.64 - - - NGFRAP1 0 genome.wustl.edu 37 X 102632568 102632568 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 102632568 102632568 C T SNP NGFRAP1 ENST00000299872 human ensembl 69_37n +1 known missense c.149 p.A50V 0.998 pfam_TF_A-like/BEX-like,pirsf_BEX pfam_TF_A-like/BEX-like,pirsf_BEX - no_errors NGFRAP1 HGNC ENSG00000166681 85 0 0.00 94 28 22.22 - - - NHS 0 genome.wustl.edu 37 X 17750097 17750097 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 17750097 17750097 A G SNP NHS ENST00000380060 human ensembl 69_37n +1 known missense c.4406 p.N1469S 0.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 67 0 0.00 95 34 26.36 - - - NID2 0 genome.wustl.edu 37 14 52507555 52507555 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 52507555 52507555 G T SNP NID2 ENST00000216286 human ensembl 69_37n -1 known missense c.1840 p.H614N 0.987 pfam_G2_nidogen/fibulin_G2F,superfamily_Green_fluorescent_prot-like,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID2 HGNC ENSG00000087303 99 0 0.00 68 48 41.03 - - - NLGN2 0 genome.wustl.edu 37 17 7319375 7319375 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 7319375 7319375 T A SNP NLGN2 ENST00000302926 human ensembl 69_37n +1 known missense c.1583 p.V528D 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN2 HGNC ENSG00000169992 19 0 0.00 10 16 61.54 - - - NLRC5 0 genome.wustl.edu 37 16 57054809 57054809 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 57054809 57054809 A G SNP NLRC5 ENST00000262510 human ensembl 69_37n +1 known missense c.185 p.H62R 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase - no_errors NLRC5 HGNC ENSG00000140853 87 0 0.00 92 20 17.86 - - - NLRP13 0 genome.wustl.edu 37 19 56443489 56443489 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 56443489 56443489 G A SNP NLRP13 ENST00000342929 human ensembl 69_37n -1 known silent c.189 p.A63 0.000 pfam_DAPIN,superfamily_DEATH-like,pfscan_DAPIN pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 31 0 0.00 45 12 21.05 - - - NLRP5 0 genome.wustl.edu 37 19 56520208 56520208 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 56520208 56520208 A - DEL NLRP5 ENST00000390649 human ensembl 69_37n +1 known frame_shift_del c.497 p.V168fs 0.021 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 90 0 0.00 106 27 20.15 - - - NPHP1 0 genome.wustl.edu 37 2 110926098 110926098 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 110926098 110926098 T - DEL NPHP1 ENST00000316534 human ensembl 69_37n -1 known frame_shift_del c.555 p.K185fs 0.398 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 132 0 0.00 150 31 17.13 - - - NPLOC4 0 genome.wustl.edu 37 17 79564290 79564290 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 79564290 79564290 A G SNP NPLOC4 ENST00000374747 human ensembl 69_37n -1 known missense c.974 p.V325A 1.000 pfam_NPL4,pirsf_PolyUb_recognition_cplx_Npl4 pfam_NPL4,pfam_NPL4_Zn-bd_put,pfam_Npl4_Ub-like_dom,pirsf_PolyUb_recognition_cplx_Npl4 - no_errors NPLOC4 HGNC ENSG00000182446 97 0 0.00 205 46 18.33 - - - NR1H2 0 genome.wustl.edu 37 19 50881064 50881064 + Frame_Shift_Del DEL G G - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 50881064 50881064 G - DEL NR1H2 ENST00000253727 human ensembl 69_37n +1 known frame_shift_del c.118 p.G41fs 0.058 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H2 HGNC ENSG00000131408 49 0 0.00 29 14 31.11 - - - NR2F2 0 genome.wustl.edu 37 15 96880700 96880700 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 96880700 96880700 T C SNP NR2F2 ENST00000394166 human ensembl 69_37n +1 known missense c.1094 p.L365P 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F2 HGNC ENSG00000185551 78 0 0.00 157 20 11.30 - - - NR4A2 0 genome.wustl.edu 37 2 157185038 157185038 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 157185038 157185038 A G SNP NR4A2 ENST00000539077 human ensembl 69_37n -1 known missense c.905 p.V302A 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A2 HGNC ENSG00000153234 59 0 0.00 73 11 13.10 - - - NRK 0 genome.wustl.edu 37 X 105150446 105150446 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 105150446 105150446 A - DEL NRK ENST00000428173 human ensembl 69_37n +1 known frame_shift_del c.885 p.N297fs 0.998 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors NRK HGNC ENSG00000123572 60 0 0.00 88 27 23.08 - - - NRXN1 0 genome.wustl.edu 37 2 50733715 50733715 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 50733715 50733715 A G SNP NRXN1 ENST00000402717 human ensembl 69_37n -1 known silent c.2391 p.N797 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 131 0 0.00 152 42 21.65 - - - NSD1 0 genome.wustl.edu 37 5 176719060 176719060 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 176719060 176719060 T G SNP NSD1 ENST00000439151 human ensembl 69_37n +1 known missense c.6364 p.F2122V 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 61 0 0.00 77 34 30.63 - - - NSD1 0 genome.wustl.edu 37 5 176719136 176719136 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 176719136 176719136 T G SNP NSD1 ENST00000439151 human ensembl 69_37n +1 known missense c.6440 p.L2147R 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 62 0 0.00 54 21 28.00 - - - NUP133 0 genome.wustl.edu 37 1 229631263 229631263 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 229631263 229631263 T C SNP NUP133 ENST00000261396 human ensembl 69_37n -1 known missense c.1025 p.Y342C 0.997 pfam_Nucleoporin_Nup133/Nup155_N pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N - no_errors NUP133 HGNC ENSG00000069248 212 0 0.00 308 86 21.77 - - - NUP214 0 genome.wustl.edu 37 9 134073368 134073368 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 134073368 134073368 C T SNP NUP214 ENST00000451030 human ensembl 69_37n +1 known missense c.4490 p.A1497V 0.001 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 43 0 0.00 47 26 35.62 - - - OLA1 0 genome.wustl.edu 37 2 174945897 174945897 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 174945897 174945897 G A SNP OLA1 ENST00000284719 human ensembl 69_37n -1 known missense c.949 p.R317C 1.000 pfam_DUF933,superfamily_TGS-like,pirsf_CHP00092,tigrfam_CHP00092 pfam_DUF933,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,pirsf_CHP00092,prints_GTP_binding_domain,tigrfam_CHP00092 - no_errors OLA1 HGNC ENSG00000138430 70 0 0.00 90 12 11.76 - - - OLFM1 0 genome.wustl.edu 37 9 138011606 138011606 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 138011606 138011606 A G SNP OLFM1 ENST00000371793 human ensembl 69_37n +1 known missense c.1040 p.Y347C 1.000 pfam_Olfac-like,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quinonprotein_ADH-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM1 HGNC ENSG00000130558 48 0 0.00 65 9 12.16 - - - OR2AG1 0 genome.wustl.edu 37 11 6806662 6806662 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 6806662 6806662 T C SNP OR2AG1 ENST00000307401 human ensembl 69_37n +1 known missense c.394 p.Y132H 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR2AG1 HGNC ENSG00000170803 67 0 0.00 134 29 17.68 - - - OR2B2 0 genome.wustl.edu 37 6 27879599 27879599 + Missense_Mutation SNP G G C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 27879599 27879599 G C SNP OR2B2 ENST00000303324 human ensembl 69_37n -1 known missense c.499 p.P167A 0.046 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 OR2B2 HGNC ENSG00000168131 41 0 0.00 61 36 37.11 - - - OR4A15 0 genome.wustl.edu 37 11 55135492 55135492 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 55135492 55135492 C A SNP OR4A15 ENST00000314706 human ensembl 69_37n +1 known missense c.133 p.L45I 0.026 NULL pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR4A15 HGNC ENSG00000181958 58 0 0.00 60 42 41.18 - - - OR4L1 0 genome.wustl.edu 37 14 20528647 20528647 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 20528647 20528647 A G SNP OR4L1 ENST00000315683 human ensembl 69_37n +1 known silent c.444 p.S148 0.986 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 OR4L1 HGNC ENSG00000176246 90 0 0.00 74 47 38.84 - - - OR5K3 0 genome.wustl.edu 37 3 98109906 98109906 + Missense_Mutation SNP C C G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 98109906 98109906 C G SNP OR5K3 ENST00000383695 human ensembl 69_37n +1 known missense c.397 p.H133D 0.950 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR5K3 HGNC ENSG00000206536 175 1 0.57 172 67 28.03 - - - ORAI1 0 genome.wustl.edu 37 12 122079541 122079541 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 122079541 122079541 T C SNP ORAI1 ENST00000330079 human ensembl 69_37n +1 known missense c.904 p.Y302H 1.000 NULL pfam_CRAC_channel,superfamily_FH2_actin-bd - no_errors ORAI1 HGNC ENSG00000182500 16 0 0.00 4 7 63.64 - - - OSBPL11 0 genome.wustl.edu 37 3 125301808 125301808 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 125301808 125301808 T C SNP OSBPL11 ENST00000296220 human ensembl 69_37n -1 known missense c.179 p.N60S 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL11 HGNC ENSG00000144909 43 0 0.00 70 18 20.45 - - - OTOF 0 genome.wustl.edu 37 2 26696942 26696942 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 26696942 26696942 T C SNP OTOF ENST00000272371 human ensembl 69_37n -1 known missense c.3325 p.N1109D 0.992 NULL pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors OTOF HGNC ENSG00000115155 39 0 0.00 15 20 57.14 - - - OTUD7A 0 genome.wustl.edu 37 15 31776728 31776728 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 31776728 31776728 A G SNP OTUD7A ENST00000382902 human ensembl 69_37n -1 known missense c.1571 p.L524P 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 78 0 0.00 45 28 38.36 - - - OTUD7B 0 genome.wustl.edu 37 1 149943110 149943110 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 149943110 149943110 A G SNP OTUD7B ENST00000369135 human ensembl 69_37n -1 known missense c.155 p.L52P 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 82 0 0.00 112 36 24.32 - - - PADI2 0 genome.wustl.edu 37 1 17409045 17409045 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 17409045 17409045 G A SNP PADI2 ENST00000375486 human ensembl 69_37n -1 known missense c.1153 p.L385F 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 42 0 0.00 50 14 21.54 - - - PBK 0 genome.wustl.edu 37 8 27690580 27690581 + Frame_Shift_Ins INS - - T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 27690580 27690581 - T INS PBK ENST00000301905 human ensembl 69_37n -1 known frame_shift_ins c.51_50 p.K18fs 0.952:0.950 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PBK HGNC ENSG00000168078 249 0 0.00 325 61 15.80 - - - PBXIP1 0 genome.wustl.edu 37 1 154919038 154919038 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 154919038 154919038 G T SNP PBXIP1 ENST00000368463 human ensembl 69_37n -1 known missense c.1112 p.P371H 0.003 NULL NULL - no_errors PBXIP1 HGNC ENSG00000163346 49 0 0.00 58 7 10.77 - - - PCDH17 0 genome.wustl.edu 37 13 58206872 58206872 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 13 58206872 58206872 C T SNP PCDH17 ENST00000377918 human ensembl 69_37n +1 known silent c.192 p.Y64 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 20 0 0.00 13 11 45.83 - - - PCDH20 0 genome.wustl.edu 37 13 61987885 61987885 + Frame_Shift_Del DEL G G - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 13 61987885 61987885 G - DEL PCDH20 ENST00000409186 human ensembl 69_37n -1 known frame_shift_del c.347 p.P116fs 0.967 pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 19 0 0.00 13 5 27.78 - - - PCDHA10 0 genome.wustl.edu 37 5 140236696 140236696 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 140236696 140236696 T C SNP PCDHA10 ENST00000307360 human ensembl 69_37n +1 known missense c.1063 p.S355P 0.003 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 91 0 0.00 91 26 22.03 - - - PCDHA7 0 genome.wustl.edu 37 5 140214295 140214295 + Missense_Mutation SNP C C G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 140214295 140214295 C G SNP PCDHA7 ENST00000525929 human ensembl 69_37n +1 known missense c.327 p.I109M 0.891 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 92 0 0.00 116 18 13.43 - - - PCDHA7 0 genome.wustl.edu 37 5 140215804 140215804 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 140215804 140215804 A G SNP PCDHA7 ENST00000525929 human ensembl 69_37n +1 known silent c.1836 p.Q612 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 91 0 0.00 76 13 14.44 - - - PCDHB6 0 genome.wustl.edu 37 5 140531205 140531205 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 140531205 140531205 T C SNP PCDHB6 ENST00000231136 human ensembl 69_37n +1 known missense c.1367 p.L456P 0.003 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 76 0 0.00 63 14 17.95 - - - PCDHGA7 0 genome.wustl.edu 37 5 140763960 140763960 + Silent SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 140763960 140763960 G T SNP PCDHGA7 ENST00000518325 human ensembl 69_37n +1 known silent c.1494 p.G498 0.001 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 42 0 0.00 53 15 22.06 - - - PCDHGC5 0 genome.wustl.edu 37 5 140869786 140869786 + Missense_Mutation SNP C C G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 140869786 140869786 C G SNP PCDHGC5 ENST00000252087 human ensembl 69_37n +1 known missense c.979 p.Q327E 0.348 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 62 0 0.00 89 11 11.00 - - - PCM1 0 genome.wustl.edu 37 8 17819685 17819685 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 17819685 17819685 T C SNP PCM1 ENST00000325083 human ensembl 69_37n +1 known splice_site c.2463+2 e14+2 0.999 - - - no_errors PCM1 HGNC ENSG00000078674 71 0 0.00 93 26 21.85 - - - PCSK2 0 genome.wustl.edu 37 20 17462282 17462282 + Missense_Mutation SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 17462282 17462282 A C SNP PCSK2 ENST00000262545 human ensembl 69_37n +1 known missense c.1484 p.E495A 1.000 superfamily_Galactose-bd-like pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK2 HGNC ENSG00000125851 64 0 0.00 83 11 11.70 - - - PDCD7 0 genome.wustl.edu 37 15 65421426 65421426 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 65421426 65421426 A T SNP PDCD7 ENST00000204549 human ensembl 69_37n -1 known missense c.953 p.I318N 1.000 NULL NULL - no_errors PDCD7 HGNC ENSG00000090470 222 0 0.00 252 56 18.12 - - - PDIK1L 0 genome.wustl.edu 37 1 26440821 26440821 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 26440821 26440821 T A SNP PDIK1L ENST00000374269 human ensembl 69_37n +1 known missense c.22 p.Y8N 1.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PDIK1L HGNC ENSG00000175087 75 0 0.00 69 67 49.26 - - - PDRG1 0 genome.wustl.edu 37 20 30534319 30534319 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 30534319 30534319 T C SNP PDRG1 ENST00000202017 human ensembl 69_37n -1 known missense c.299 p.N100S 0.999 pfam_PFD_beta-like,superfamily_Prefoldin pfam_PFD_beta-like,superfamily_Prefoldin - no_errors PDRG1 HGNC ENSG00000088356 88 0 0.00 82 43 34.13 - - - PDS5B 0 genome.wustl.edu 37 13 33344580 33344580 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 13 33344580 33344580 A - DEL PDS5B ENST00000315596 human ensembl 69_37n +1 known frame_shift_del c.3946 p.K1318fs 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 27 0 0.00 35 5 12.50 - - - PDYN 0 genome.wustl.edu 37 20 1961210 1961210 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 1961210 1961210 T C SNP PDYN ENST00000217305 human ensembl 69_37n -1 known missense c.524 p.Y175C 1.000 prints_Opioid_neupept pfam_Opioid_neupept,prints_Proenkphlin_B,prints_Opioid_neupept - no_errors PDYN HGNC ENSG00000101327 81 0 0.00 55 43 43.88 - - - PEG3 0 genome.wustl.edu 37 19 57327372 57327372 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 57327372 57327372 A G SNP PEG3 ENST00000326441 human ensembl 69_37n -1 known missense c.2438 p.I813T 0.000 NULL 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 PEG3 HGNC ENSG00000198300 58 0 0.00 70 35 33.33 - - - PELP1 0 genome.wustl.edu 37 17 4578434 4578434 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 4578434 4578434 A G SNP PELP1 ENST00000301396 human ensembl 69_37n -1 known missense c.1646 p.V549A 1.000 NULL pfam_Uncharacterised_NUC202,superfamily_ARM-type_fold - no_errors PELP1 HGNC ENSG00000141456 18 0 0.00 18 20 52.63 - - - PER2 0 genome.wustl.edu 37 2 239165684 239165684 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 239165684 239165684 A G SNP PER2 ENST00000254657 human ensembl 69_37n -1 known silent c.1944 p.G648 0.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 63 0 0.00 36 19 34.55 - - - PEX6 0 genome.wustl.edu 37 6 42934554 42934554 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 42934554 42934554 T G SNP PEX6 ENST00000304611 human ensembl 69_37n -1 known missense c.1927 p.S643R 1.000 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors PEX6 HGNC ENSG00000124587 70 0 0.00 61 35 36.46 - - - PFKFB2 0 genome.wustl.edu 37 1 207241610 207241610 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 207241610 207241610 G T SNP PFKFB2 ENST00000367080 human ensembl 69_37n +1 known missense c.943 p.G315W 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB2 HGNC ENSG00000123836 65 0 0.00 79 22 21.78 - - - PGS1 0 genome.wustl.edu 37 17 76420260 76420260 + RNA SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 76420260 76420260 C A SNP PGS1 ENST00000588281 human ensembl 69_37n +1 known rna NULL NULL 0.005 - - - no_errors PGS1 HGNC ENSG00000087157 24 0 0.00 26 10 27.78 - - - PHKA1 0 genome.wustl.edu 37 X 71800923 71800923 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 71800923 71800923 T G SNP PHKA1 ENST00000373539 human ensembl 69_37n -1 known missense c.3652 p.T1218P 1.000 NULL pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 102 0 0.00 64 26 28.89 - - - PHLDB2 0 genome.wustl.edu 37 3 111685516 111685516 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 111685516 111685516 C T SNP PHLDB2 ENST00000393925 human ensembl 69_37n +1 known missense c.3134 p.A1045V 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 51 0 0.00 78 41 34.45 - - - PIGG 0 genome.wustl.edu 37 4 515577 515577 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 515577 515577 C T SNP PIGG ENST00000453061 human ensembl 69_37n +1 known silent c.1461 p.H487 0.734 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 258 0 0.00 237 45 15.90 - - - PIH1D2 0 genome.wustl.edu 37 11 111943778 111943778 + Missense_Mutation SNP C C G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 111943778 111943778 C G SNP PIH1D2 ENST00000280350 human ensembl 69_37n -1 known missense c.121 p.G41R 0.942 NULL NULL - no_errors PIH1D2 HGNC ENSG00000150773 42 0 0.00 93 14 13.08 - - - PIK3R1 0 genome.wustl.edu 37 5 67592114 67592114 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 67592114 67592114 G T SNP PIK3R1 ENST00000396611 human ensembl 69_37n +1 known missense c.1954 p.G652C 1.000 pfam_SH2,smart_SH2,pfscan_SH2 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 109 0 0.00 82 34 29.31 - - - PIK3R1 0 genome.wustl.edu 37 5 67593261 67593261 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 67593261 67593261 T A SNP PIK3R1 ENST00000396611 human ensembl 69_37n +1 known missense c.2031 p.H677Q 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 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 90 0 0.00 104 50 32.47 - - - PIK3R3 0 genome.wustl.edu 37 1 46521525 46521525 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 46521525 46521525 T - DEL PIK3R3 ENST00000540385 human ensembl 69_37n -1 known frame_shift_del c.1021 p.M341fs 1.000 prints_PI3kinase_P85 pfam_SH2,smart_SH2,pfscan_SH2,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R3 HGNC ENSG00000117461 142 0 0.00 222 56 20.07 - - - PIK3R4 0 genome.wustl.edu 37 3 130449170 130449170 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 130449170 130449170 T G SNP PIK3R4 ENST00000356763 human ensembl 69_37n -1 known missense c.1567 p.N523H 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 128 0 0.00 135 35 20.59 - - - PIKFYVE 0 genome.wustl.edu 37 2 209201654 209201654 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 209201654 209201654 T C SNP PIKFYVE ENST00000264380 human ensembl 69_37n +1 known splice_site c.4611+2 e27+2 1.000 - - - no_errors PIKFYVE HGNC ENSG00000115020 45 0 0.00 39 23 37.10 - - - PINK1 0 genome.wustl.edu 37 1 20964396 20964396 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 20964396 20964396 G T SNP PINK1 ENST00000321556 human ensembl 69_37n +1 known missense c.449 p.G150V 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors PINK1 HGNC ENSG00000158828 81 0 0.00 58 34 36.96 - - - PITPNM2 0 genome.wustl.edu 37 12 123471302 123471302 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 123471302 123471302 G A SNP PITPNM2 ENST00000320201 human ensembl 69_37n -1 known missense c.3488 p.A1163V 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 58 0 0.00 12 8 40.00 - - - PITX2 0 genome.wustl.edu 37 4 111542358 111542358 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 111542358 111542358 T C SNP PITX2 ENST00000306732 human ensembl 69_37n -1 known missense c.373 p.I125V 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_Homeodomain pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PITX2 HGNC ENSG00000164093 41 0 0.00 24 8 25.00 - - - PIWIL2 0 genome.wustl.edu 37 8 22210611 22210611 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 22210611 22210611 T C SNP PIWIL2 ENST00000356766 human ensembl 69_37n +1 known missense c.2543 p.V848A 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 109 0 0.00 139 57 29.08 - - - PKD1L1 0 genome.wustl.edu 37 7 47925473 47925473 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 47925473 47925473 T C SNP PKD1L1 ENST00000289672 human ensembl 69_37n -1 known missense c.3016 p.R1006G 0.000 pfam_PKD/REJ-like,pfscan_REJ-like pfam_PKD/REJ-like,pfam_PKD1_2_channel,pfam_PKD_dom,pfam_LipOase_LH2,superfamily_Lipase_LipOase,superfamily_PKD_dom,smart_PKD/Chitinase_dom,smart_LipOase_LH2,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like - no_errors PKD1L1 HGNC ENSG00000158683 59 0 0.00 88 43 32.82 - - - PKMYT1 0 genome.wustl.edu 37 16 3025624 3025624 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 3025624 3025624 A G SNP PKMYT1 ENST00000262300 human ensembl 69_37n -1 known missense c.568 p.C190R 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_cat_dom - no_errors PKMYT1 HGNC ENSG00000127564 17 0 0.00 6 10 62.50 - - - PLA2R1 0 genome.wustl.edu 37 2 160901313 160901313 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 160901313 160901313 A G SNP PLA2R1 ENST00000283243 human ensembl 69_37n -1 known silent c.465 p.G155 0.814 superfamily_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors PLA2R1 HGNC ENSG00000153246 34 0 0.00 44 8 15.38 - - - PLAA 0 genome.wustl.edu 37 9 26917106 26917106 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 26917106 26917106 T C SNP PLAA ENST00000397292 human ensembl 69_37n -1 known missense c.1475 p.D492G 1.000 NULL pfam_PUL,pfam_WD40_repeat,pfam_PLAA_fam_Ub-bd_PFU,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PLAA HGNC ENSG00000137055 67 0 0.00 82 23 21.90 - - - PLCD4 0 genome.wustl.edu 37 2 219487380 219487380 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 219487380 219487380 C A SNP PLCD4 ENST00000417849 human ensembl 69_37n +1 known missense c.551 p.T184K 0.744 smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCD4 HGNC ENSG00000115556 55 0 0.00 69 22 24.18 - - - PLCL2 0 genome.wustl.edu 37 3 17131386 17131386 + Missense_Mutation SNP C C G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 17131386 17131386 C G SNP PLCL2 ENST00000418129 human ensembl 69_37n +1 known missense c.2988 p.N996K 0.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC ENSG00000154822 39 0 0.00 52 22 29.73 - - - PLCXD2 0 genome.wustl.edu 37 3 111432906 111432906 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 111432906 111432906 T C SNP PLCXD2 ENST00000477665 human ensembl 69_37n +1 known missense c.797 p.I266T 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD2 HGNC ENSG00000240891 26 0 0.00 33 8 19.51 - - - PLEKHD1 0 genome.wustl.edu 37 14 69966879 69966879 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 69966879 69966879 A - DEL PLEKHD1 ENST00000322564 human ensembl 69_37n +1 known frame_shift_del c.197 p.K68fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHD1 HGNC ENSG00000175985 112 0 0.00 97 58 36.71 - - - PLEKHG2 0 genome.wustl.edu 37 19 39915425 39915425 + Nonsense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 39915425 39915425 G T SNP PLEKHG2 ENST00000409794 human ensembl 69_37n +1 known nonsense c.3652 p.G1218* 0.003 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG2 HGNC ENSG00000090924 45 0 0.00 56 25 30.86 - - - PLOD3 0 genome.wustl.edu 37 7 100856126 100856126 + Frame_Shift_Del DEL C C - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 100856126 100856126 C - DEL PLOD3 ENST00000223127 human ensembl 69_37n -1 known frame_shift_del c.876 p.Q293fs 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 28 0 0.00 24 6 20.00 - - - PLXNA3 0 genome.wustl.edu 37 X 153691781 153691781 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 153691781 153691781 C T SNP PLXNA3 ENST00000369682 human ensembl 69_37n +1 known silent c.1365 p.P455 0.023 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNA3 HGNC ENSG00000130827 66 0 0.00 71 13 15.48 - - - PMFBP1 0 genome.wustl.edu 37 16 72166652 72166652 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 72166652 72166652 A G SNP PMFBP1 ENST00000537465 human ensembl 69_37n -1 known missense c.1442 p.L481P 0.007 NULL NULL - no_errors PMFBP1 HGNC ENSG00000118557 89 0 0.00 66 14 17.07 - - - POLA2 0 genome.wustl.edu 37 11 65062088 65062088 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 65062088 65062088 T C SNP POLA2 ENST00000525924 human ensembl 69_37n +1 putative missense c.434 p.I145T 0.972 pfam_DNA_pol_alpha/epsilon_bsu pfam_DNA_pol_alpha/epsilon_bsu - pseudogene:no_stop_codon:bad_bp_length_for_coding_region POLA2 HGNC ENSG00000014138 86 0 0.00 104 32 23.53 - - - POLG 0 genome.wustl.edu 37 15 89876333 89876333 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 89876333 89876333 G A SNP POLG ENST00000268124 human ensembl 69_37n -1 known missense c.653 p.S218L 0.878 pirsf_DNA-dir_DNA_pol_A_mt_sub,superfamily_RNaseH-like_dom pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 8 0 0.00 9 4 30.77 - - - POLH 0 genome.wustl.edu 37 6 43581864 43581864 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 43581864 43581864 A G SNP POLH ENST00000372236 human ensembl 69_37n +1 known missense c.1712 p.Y571C 0.000 pirsf_DNA_pol_eta pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLH HGNC ENSG00000170734 72 0 0.00 64 50 43.86 - - - POLQ 0 genome.wustl.edu 37 3 121248613 121248613 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 121248613 121248613 T A SNP POLQ ENST00000264233 human ensembl 69_37n -1 known missense c.987 p.L329F 1.000 pfscan_Helicase_C pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 61 0 0.00 58 19 24.36 - - - POM121 0 genome.wustl.edu 37 7 72416772 72416772 + Nonstop_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 72416772 72416772 A G SNP POM121 ENST00000434423 human ensembl 69_37n +1 known nonstop c.3749 p.*1250W 0.996 NULL NULL - no_errors POM121 HGNC ENSG00000196313 139 0 0.00 109 41 27.33 - - - POM121C 0 genome.wustl.edu 37 7 75051330 75051331 + Frame_Shift_Del DEL AG AG - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 75051330 75051331 AG - DEL POM121C ENST00000257665 human ensembl 69_37n -1 known frame_shift_del c.2931_2930 p.S977fs 0.741:0.876 NULL NULL - no_errors POM121C HGNC ENSG00000135213 36 0 0.00 30 12 28.57 - - - POMZP3 0 genome.wustl.edu 37 7 76247566 76247566 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 76247566 76247566 T C SNP POMZP3 ENST00000424818 human ensembl 69_37n -1 known missense c.398 p.D133G 0.277 NULL NULL - no_errors POMZP3 HGNC ENSG00000146707 132 0 0.00 174 21 10.77 - - - PPEF1 0 genome.wustl.edu 37 X 18807363 18807363 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 18807363 18807363 A G SNP PPEF1 ENST00000361511 human ensembl 69_37n +1 known missense c.1037 p.E346G 0.052 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr-Pase_EF-hand_contain,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,pfam_EF-hand,pfam_PPP_dom,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_Ca-bd,pirsf_Ser/Thr-Pase_EF-hand_contain,pfscan_EF_HAND_2,pfscan_IQ_motif_EF-hand-BS,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPEF1 HGNC ENSG00000086717 55 0 0.00 67 16 19.28 - - - PPFIA3 0 genome.wustl.edu 37 19 49644722 49644722 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 49644722 49644722 T C SNP PPFIA3 ENST00000334186 human ensembl 69_37n +1 known missense c.2414 p.L805P 0.969 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 48 0 0.00 22 19 46.34 - - - PPIAL4G 0 genome.wustl.edu 37 1 143767699 143767699 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 143767699 143767699 A G SNP PPIAL4G ENST00000419275 human ensembl 69_37n -1 known silent c.150 p.G50 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIAL4G HGNC ENSG00000236334 198 0 0.00 347 68 16.31 - - - PPOX 0 genome.wustl.edu 37 1 161137815 161137815 + Silent SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 161137815 161137815 C A SNP PPOX ENST00000352210 human ensembl 69_37n +1 known silent c.369 p.S123 1.000 pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase - no_errors PPOX HGNC ENSG00000143224 51 0 0.00 47 12 20.34 - - - PPP1R12B 0 genome.wustl.edu 37 1 202398059 202398059 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 202398059 202398059 T C SNP PPP1R12B ENST00000336894 human ensembl 69_37n +1 known splice_site c.921+2 e6+2 1.000 - - - no_errors PPP1R12B HGNC ENSG00000077157 122 0 0.00 154 33 17.46 - - - PPP1R12B 0 genome.wustl.edu 37 1 202407190 202407190 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 202407190 202407190 T - DEL PPP1R12B ENST00000480184 human ensembl 69_37n +1 novel frame_shift_del c.1496 p.F502fs 0.041 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R12B HGNC ENSG00000077157 25 0 0.00 38 8 17.39 - - - PRKDC 0 genome.wustl.edu 37 8 48713538 48713538 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 48713538 48713538 T C SNP PRKDC ENST00000314191 human ensembl 69_37n -1 known missense c.9929 p.N3310S 0.003 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT 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 63 0 0.00 87 35 28.69 - - - PRKG1 0 genome.wustl.edu 37 10 53227498 53227498 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 53227498 53227498 T C SNP PRKG1 ENST00000373980 human ensembl 69_37n +1 known missense c.494 p.V165A 1.000 pirsf_cGMP-dependent_protein_kinase,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_cat_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_cat_dom - no_errors PRKG1 HGNC ENSG00000185532 124 0 0.00 120 62 33.88 - - - PRPF3 0 genome.wustl.edu 37 1 150310652 150310652 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 150310652 150310652 T A SNP PRPF3 ENST00000324862 human ensembl 69_37n +1 known missense c.1052 p.L351Q 1.000 pfam_Pre-mRNA_splic_Prp3 pfam_Pre-mRNA_splic_Prp3,pfam_DUF1115,pfam_PWI,superfamily_PWI,smart_PWI - no_errors PRPF3 HGNC ENSG00000117360 59 0 0.00 102 17 14.29 - - - PRPF38A 0 genome.wustl.edu 37 1 52878256 52878256 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 52878256 52878256 A G SNP PRPF38A ENST00000257181 human ensembl 69_37n +1 known missense c.569 p.D190G 0.998 NULL pfam_PRP38 - no_errors PRPF38A HGNC ENSG00000134748 110 1 0.90 130 56 30.11 - - - PRPF6 0 genome.wustl.edu 37 20 62659902 62659902 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 62659902 62659902 T A SNP PRPF6 ENST00000266079 human ensembl 69_37n +1 known missense c.2411 p.L804Q 1.000 smart_HAT,pfscan_TPR-contain_dom pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors PRPF6 HGNC ENSG00000101161 41 0 0.00 35 12 25.53 - - - PRPSAP1 0 genome.wustl.edu 37 17 74328411 74328411 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 74328411 74328411 C T SNP PRPSAP1 ENST00000446526 human ensembl 69_37n -1 known silent c.396 p.K132 0.997 tigrfam_Rib-P_diPkinase tigrfam_Rib-P_diPkinase - no_errors PRPSAP1 HGNC ENSG00000161542 162 0 0.00 262 37 12.33 - - - PRRC2B 0 genome.wustl.edu 37 9 134321980 134321980 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 134321980 134321980 T C SNP PRRC2B ENST00000357304 human ensembl 69_37n +1 known missense c.806 p.M269T 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 101 0 0.00 145 24 14.12 - - - PRSS53 0 genome.wustl.edu 37 16 31096162 31096162 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 31096162 31096162 A G SNP PRSS53 ENST00000280606 human ensembl 69_37n -1 known silent c.1218 p.P406 0.015 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors PRSS53 HGNC ENSG00000151006 28 0 0.00 11 6 35.29 - - - PRX 0 genome.wustl.edu 37 19 40902398 40902399 + Frame_Shift_Ins INS - - T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 40902398 40902399 - T INS PRX ENST00000324001 human ensembl 69_37n -1 known frame_shift_ins c.1861_1860 p.V620fs 0.018:0.001 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 60 0 0.00 83 18 17.82 - - - PSG3 0 genome.wustl.edu 37 19 43233410 43233410 + Missense_Mutation SNP C C G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 43233410 43233410 C G SNP PSG3 ENST00000327495 human ensembl 69_37n -1 known missense c.1108 p.G370R 0.019 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG3 HGNC ENSG00000221826 215 0 0.00 233 93 28.53 - - - PSMD1 0 genome.wustl.edu 37 2 231943447 231943447 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 231943447 231943447 T C SNP PSMD1 ENST00000308696 human ensembl 69_37n +1 known silent c.1146 p.S382 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn2 - no_errors PSMD1 HGNC ENSG00000173692 101 0 0.00 140 57 28.93 - - - PSMG2 0 genome.wustl.edu 37 18 12718542 12718542 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 18 12718542 12718542 A G SNP PSMG2 ENST00000317615 human ensembl 69_37n +1 known silent c.315 p.K105 0.894 pfam_Proteasome_assmbl_chaperone_2,pirsf_Proteasome_assmbl_chp_2_euk pfam_Proteasome_assmbl_chaperone_2,pirsf_Proteasome_assmbl_chp_2_euk - no_errors PSMG2 HGNC ENSG00000128789 144 0 0.00 226 45 16.61 - - - PTAR1 0 genome.wustl.edu 37 9 72333548 72333548 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 72333548 72333548 T C SNP PTAR1 ENST00000377200 human ensembl 69_37n -1 novel missense c.763 p.M255V 0.000 NULL pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a - no_errors PTAR1 HGNC ENSG00000188647 61 0 0.00 72 8 10.00 - - - PTBP1 0 genome.wustl.edu 37 19 804187 804187 + Silent SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 804187 804187 G T SNP PTBP1 ENST00000356948 human ensembl 69_37n +1 known silent c.267 p.L89 0.998 smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 50 0 0.00 57 9 13.64 - - - PTCRA 0 genome.wustl.edu 37 6 42890941 42890941 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 42890941 42890941 T C SNP PTCRA ENST00000304672 human ensembl 69_37n +1 known missense c.235 p.S79P 0.077 NULL NULL - no_errors PTCRA HGNC ENSG00000171611 74 0 0.00 140 25 15.15 - - - PTDSS1 0 genome.wustl.edu 37 8 97321789 97321789 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 97321789 97321789 T C SNP PTDSS1 ENST00000517309 human ensembl 69_37n +1 known missense c.1012 p.Y338H 1.000 pfam_PSS pfam_PSS - no_errors PTDSS1 HGNC ENSG00000156471 90 0 0.00 116 41 26.11 - - - PTGES2 0 genome.wustl.edu 37 9 130883442 130883442 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 130883442 130883442 C T SNP PTGES2 ENST00000338961 human ensembl 69_37n -1 known silent c.1116 p.E372 0.003 superfamily_Glutathione-S-Trfase_C-like pfam_Glutaredoxin,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors PTGES2 HGNC ENSG00000148334 31 0 0.00 26 18 40.91 - - - PTGS1 0 genome.wustl.edu 37 9 125154527 125154527 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 125154527 125154527 T A SNP PTGS1 ENST00000362012 human ensembl 69_37n +1 known missense c.1504 p.F502I 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS1 HGNC ENSG00000095303 32 0 0.00 34 6 15.00 - - - PTK2 0 genome.wustl.edu 37 8 141753416 141753416 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 141753416 141753416 G A SNP PTK2 ENST00000395218 human ensembl 69_37n -1 known missense c.1648 p.R550W 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_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2 HGNC ENSG00000169398 98 0 0.00 80 44 35.48 - - - PTPRF 0 genome.wustl.edu 37 1 44058239 44058239 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 44058239 44058239 A G SNP PTPRF ENST00000359947 human ensembl 69_37n +1 known missense c.1780 p.T594A 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 27 0 0.00 31 12 25.53 - - - PTPRQ 0 genome.wustl.edu 37 12 80899901 80899901 + Frame_Shift_Del DEL C C - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 80899901 80899901 C - DEL PTPRQ ENST00000266688 human ensembl 69_37n +1 known frame_shift_del c.2359 p.Q787fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRQ HGNC ENSG00000139304 20 0 0.00 16 12 27.27 - - - PXDN 0 genome.wustl.edu 37 2 1652601 1652601 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 1652601 1652601 A G SNP PXDN ENST00000252804 human ensembl 69_37n -1 known missense c.2951 p.L984P 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDN HGNC ENSG00000130508 37 0 0.00 25 9 26.47 - - - QRICH2 0 genome.wustl.edu 37 17 74300972 74300972 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 74300972 74300972 C T SNP QRICH2 ENST00000262765 human ensembl 69_37n -1 known silent c.87 p.E29 0.000 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 86 0 0.00 135 33 19.64 - - - QSER1 0 genome.wustl.edu 37 11 32996911 32996911 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 32996911 32996911 A - DEL QSER1 ENST00000524678 human ensembl 69_37n +1 putative frame_shift_del c.2151 p.M720fs 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region QSER1 HGNC ENSG00000060749 67 0 0.00 84 21 19.63 - - - RAB13 0 genome.wustl.edu 37 1 153956014 153956014 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 153956014 153956014 A G SNP RAB13 ENST00000368575 human ensembl 69_37n -1 known missense c.229 p.Y77H 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB13 HGNC ENSG00000143545 119 0 0.00 178 31 14.83 - - - RABEP2 0 genome.wustl.edu 37 16 28931139 28931139 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 28931139 28931139 G A SNP RABEP2 ENST00000358201 human ensembl 69_37n -1 known missense c.400 p.P134S 1.000 pfam_Rabaptin_coiled-coil pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP2 HGNC ENSG00000177548 53 0 0.00 47 16 25.40 - - - RABGAP1L 0 genome.wustl.edu 37 1 174219767 174219767 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 174219767 174219767 T C SNP RABGAP1L ENST00000251507 human ensembl 69_37n +1 known missense c.872 p.F291S 1.000 pfam_Kinesin-like pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom - no_errors RABGAP1L HGNC ENSG00000152061 90 0 0.00 109 44 28.76 - - - RAI14 0 genome.wustl.edu 37 5 34826493 34826493 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 34826493 34826493 A G SNP RAI14 ENST00000515799 human ensembl 69_37n +1 known missense c.2717 p.Q906R 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 58 0 0.00 75 18 19.35 - - - RALGAPA1 0 genome.wustl.edu 37 14 36096681 36096681 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 36096681 36096681 T C SNP RALGAPA1 ENST00000258840 human ensembl 69_37n -1 known missense c.5095 p.T1699A 0.369 NULL pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPA1 HGNC ENSG00000174373 50 0 0.00 49 28 36.36 - - - RANBP10 0 genome.wustl.edu 37 16 67768929 67768929 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 67768929 67768929 G T SNP RANBP10 ENST00000317506 human ensembl 69_37n -1 known missense c.608 p.T203N 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RANBP10 HGNC ENSG00000141084 24 0 0.00 18 10 35.71 - - - RANBP6 0 genome.wustl.edu 37 9 6012611 6012611 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 6012611 6012611 T C SNP RANBP6 ENST00000259569 human ensembl 69_37n -1 known silent c.2997 p.E999 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 84 0 0.00 216 25 10.37 - - - RARRES2 0 genome.wustl.edu 37 7 150037692 150037692 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 150037692 150037692 G A SNP RARRES2 ENST00000223271 human ensembl 69_37n -1 known missense c.7 p.R3W 0.068 NULL NULL - no_errors RARRES2 HGNC ENSG00000106538 12 0 0.00 7 5 41.67 - - - RASAL1 0 genome.wustl.edu 37 12 113553048 113553048 + Missense_Mutation SNP C C G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 113553048 113553048 C G SNP RASAL1 ENST00000546530 human ensembl 69_37n -1 known missense c.1025 p.R342P 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 159 0 0.00 93 76 44.97 - - - RBBP6 0 genome.wustl.edu 37 16 24574618 24574618 + Splice_Site SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 24574618 24574618 T A SNP RBBP6 ENST00000319715 human ensembl 69_37n +1 known splice_site c.1386+2 e11+2 0.997 - - - no_errors RBBP6 HGNC ENSG00000122257 29 0 0.00 74 14 15.91 - - - RBM11 0 genome.wustl.edu 37 21 15588559 15588559 + Missense_Mutation SNP G G C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 21 15588559 15588559 G C SNP RBM11 ENST00000400577 human ensembl 69_37n +1 known missense c.52 p.E18Q 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM11 HGNC ENSG00000185272 55 0 0.00 81 18 18.18 - - - RBM14-RBM4 0 genome.wustl.edu 37 11 66407221 66407221 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 66407221 66407221 T A SNP RBM14-RBM4 ENST00000421355 human ensembl 69_37n +1 known missense c.388 p.Y130N 0.990 smart_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14-RBM4 HGNC ENSG00000248643 73 0 0.00 115 22 16.06 - - - RBM22 0 genome.wustl.edu 37 5 150075198 150075198 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 150075198 150075198 T C SNP RBM22 ENST00000199814 human ensembl 69_37n -1 known missense c.616 p.N206D 1.000 NULL pfam_RRM_dom,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM22 HGNC ENSG00000086589 77 0 0.00 52 35 40.23 - - - RBM26 0 genome.wustl.edu 37 13 79932450 79932450 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 13 79932450 79932450 T G SNP RBM26 ENST00000327303 human ensembl 69_37n -1 known missense c.1648 p.N550H 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_PWI,superfamily_PWI,smart_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM26 HGNC ENSG00000139746 89 0 0.00 113 39 25.66 - - - RBM42 0 genome.wustl.edu 37 19 36128363 36128363 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 36128363 36128363 C T SNP RBM42 ENST00000262633 human ensembl 69_37n +1 known silent c.1350 p.R450 0.886 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM42 HGNC ENSG00000126254 50 0 0.00 44 32 41.56 - - - RC3H1 0 genome.wustl.edu 37 1 173962098 173962098 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 173962098 173962098 G T SNP RC3H1 ENST00000258349 human ensembl 69_37n -1 known missense c.26 p.T9K 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H1 HGNC ENSG00000135870 88 0 0.00 151 33 17.84 - - - RDX 0 genome.wustl.edu 37 11 110134808 110134808 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 110134808 110134808 A G SNP RDX ENST00000530749 human ensembl 69_37n -1 known missense c.344 p.I115T 1.000 pirsf_ERM,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain - no_errors RDX HGNC ENSG00000137710 61 0 0.00 48 35 42.17 - - - RGL2 0 genome.wustl.edu 37 6 33263965 33263965 + Frame_Shift_Del DEL C C - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 33263965 33263965 C - DEL RGL2 ENST00000497454 human ensembl 69_37n -1 known frame_shift_del c.608 p.G203fs 1.000 superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL2 HGNC ENSG00000237441 52 0 0.00 50 9 15.25 - - - RGS7BP 0 genome.wustl.edu 37 5 63894218 63894218 + Nonsense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 63894218 63894218 T A SNP RGS7BP ENST00000334025 human ensembl 69_37n +1 known nonsense c.638 p.L213* 1.000 NULL NULL - no_errors RGS7BP HGNC ENSG00000186479 77 0 0.00 50 37 42.53 - - - RHBG 0 genome.wustl.edu 37 1 156354347 156354348 + Frame_Shift_Ins INS - - C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 156354347 156354348 - C INS RHBG ENST00000400992 human ensembl 69_37n +1 known frame_shift_ins c.1168_1169 p.R393fs 0.006:0.723 superfamily_NH4_transpt_AmtB-like pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD - no_errors RHBG HGNC ENSG00000132677 67 0 0.00 108 14 11.48 - - - RHOBTB2 0 genome.wustl.edu 37 8 22864368 22864368 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 22864368 22864368 A G SNP RHOBTB2 ENST00000251822 human ensembl 69_37n +1 known missense c.610 p.I204V 1.000 pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 54 0 0.00 31 22 41.51 - - - RHOBTB2 0 genome.wustl.edu 37 8 22864740 22864740 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 22864740 22864740 C T SNP RHOBTB2 ENST00000251822 human ensembl 69_37n +1 known missense c.982 p.H328Y 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 32 0 0.00 30 11 26.83 - - - RIF1 0 genome.wustl.edu 37 2 152324612 152324612 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 152324612 152324612 T G SNP RIF1 ENST00000243326 human ensembl 69_37n +1 known missense c.6699 p.S2233R 0.999 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 62 0 0.00 58 22 27.50 - - - RIPK3 0 genome.wustl.edu 37 14 24807202 24807202 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 24807202 24807202 G T SNP RIPK3 ENST00000216274 human ensembl 69_37n -1 known missense c.709 p.Q237K 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK3 HGNC ENSG00000129465 33 0 0.00 18 18 50.00 - - - RLIM 0 genome.wustl.edu 37 X 73814166 73814166 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 73814166 73814166 T C SNP RLIM ENST00000332687 human ensembl 69_37n -1 known silent c.228 p.P76 0.997 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RLIM HGNC ENSG00000131263 176 0 0.00 243 54 18.18 - - - RLN2 0 genome.wustl.edu 37 9 5304561 5304561 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 5304561 5304561 A - DEL RLN2 ENST00000381627 human ensembl 69_37n -1 known frame_shift_del c.20 p.F7fs 0.078 prints_Relaxin pfam_Insulin-like,superfamily_Insulin-like,smart_Insulin-like,prints_Relaxin,prints_Insulin_family - no_errors RLN2 HGNC ENSG00000107014 26 0 0.00 59 13 17.57 - - - RMND5B 0 genome.wustl.edu 37 5 177574760 177574760 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 177574760 177574760 T C SNP RMND5B ENST00000313386 human ensembl 69_37n +1 known missense c.994 p.Y332H 1.000 NULL smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors RMND5B HGNC ENSG00000145916 104 0 0.00 175 29 14.22 - - - RNASE6 0 genome.wustl.edu 37 14 21250102 21250102 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 21250102 21250102 A G SNP RNASE6 ENST00000304677 human ensembl 69_37n +1 known missense c.244 p.S82G 0.001 pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA - no_errors RNASE6 HGNC ENSG00000169413 136 0 0.00 89 51 36.17 - - - RNF128 0 genome.wustl.edu 37 X 105937256 105937256 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 105937256 105937256 T - DEL RNF128 ENST00000324342 human ensembl 69_37n +1 known frame_shift_del c.24 p.W11fs 0.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 68 0 0.00 119 14 10.45 - - - RNF149 0 genome.wustl.edu 37 2 101911394 101911394 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 101911394 101911394 T C SNP RNF149 ENST00000295317 human ensembl 69_37n -1 known missense c.710 p.Q237R 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF149 HGNC ENSG00000163162 31 0 0.00 19 16 45.71 - - - RNF215 0 genome.wustl.edu 37 22 30775714 30775714 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 22 30775714 30775714 T A SNP RNF215 ENST00000382363 human ensembl 69_37n -1 known missense c.1097 p.K366I 1.000 pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF215 HGNC ENSG00000099999 62 0 0.00 107 14 11.57 - - - ROS1 0 genome.wustl.edu 37 6 117687257 117687257 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 117687257 117687257 A T SNP ROS1 ENST00000368508 human ensembl 69_37n -1 known missense c.2794 p.S932T 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 83 0 0.00 79 51 39.23 - - - RPA4 0 genome.wustl.edu 37 X 96139824 96139824 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 96139824 96139824 G A SNP RPA4 ENST00000373040 human ensembl 69_37n +1 known missense c.515 p.R172H 0.000 pfam_RPA_C,pirsf_RPA32 pfam_RPA_C,pfam_NA-bd_OB_tRNA-helicase,superfamily_NA-bd_OB-fold-like,pirsf_RPA32 - no_errors RPA4 HGNC ENSG00000204086 70 0 0.00 93 18 16.07 - - - RPGRIP1 0 genome.wustl.edu 37 14 21770705 21770705 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 21770705 21770705 T C SNP RPGRIP1 ENST00000206660 human ensembl 69_37n +1 known silent c.549 p.N183 0.025 NULL pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors RPGRIP1 HGNC ENSG00000092200 60 0 0.00 30 18 37.50 - - - RPGRIP1L 0 genome.wustl.edu 37 16 53691441 53691441 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 53691441 53691441 T C SNP RPGRIP1L ENST00000379925 human ensembl 69_37n -1 known missense c.1505 p.H502R 1.000 NULL pfam_DUF3250,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors RPGRIP1L HGNC ENSG00000103494 89 0 0.00 125 18 12.59 - - - RPL32 0 genome.wustl.edu 37 3 12881679 12881679 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 12881679 12881679 A G SNP RPL32 ENST00000396953 human ensembl 69_37n -1 known missense c.58 p.F20L 1.000 pfam_Ribosomal_L32e,superfamily_Ribosomal_L32e pfam_Ribosomal_L32e,superfamily_Ribosomal_L32e - no_errors RPL32 HGNC ENSG00000144713 146 0 0.00 197 37 15.68 - - - RPS18 0 genome.wustl.edu 37 6 33244011 33244011 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 33244011 33244011 T A SNP RPS18 ENST00000439602 human ensembl 69_37n +1 known missense c.350 p.I117N 1.000 pfam_Ribosomal_S13,superfamily_Ribosomal_S13-like_H2TH,pirsf_Ribosomal_S13,pfscan_Ribosomal_S13 pfam_Ribosomal_S13,superfamily_Ribosomal_S13-like_H2TH,pirsf_Ribosomal_S13,pfscan_Ribosomal_S13 - no_errors RPS18 HGNC ENSG00000231500 31 0 0.00 53 10 15.87 - - - RTL1 0 genome.wustl.edu 37 14 101350605 101350605 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 101350605 101350605 T C SNP RTL1 ENST00000534062 human ensembl 69_37n -1 known missense c.521 p.Y174C 0.708 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC ENSG00000254656 134 0 0.00 166 56 25.23 - - - RUFY2 0 genome.wustl.edu 37 10 70156583 70156583 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 70156583 70156583 T - DEL RUFY2 ENST00000388768 human ensembl 69_37n -1 known frame_shift_del c.457 p.M153fs 0.996 pfam_Run,smart_Run,pfscan_Run pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel - no_errors RUFY2 HGNC ENSG00000204130 72 0 0.00 58 20 25.00 - - - RUNDC3A 0 genome.wustl.edu 37 17 42390802 42390802 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 42390802 42390802 G A SNP RUNDC3A ENST00000426726 human ensembl 69_37n +1 known missense c.389 p.R130Q 1.000 pfam_Run,smart_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3A HGNC ENSG00000108309 31 0 0.00 50 21 29.58 - - - RUSC1 0 genome.wustl.edu 37 1 155294982 155294982 + RNA DEL G G - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 155294982 155294982 G - DEL RUSC1 ENST00000462780 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors RUSC1 HGNC ENSG00000160753 40 0 0.00 50 17 24.64 - - - RYR1 0 genome.wustl.edu 37 19 38998429 38998429 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 38998429 38998429 G A SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known missense c.8894 p.R2965H 0.935 NULL 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,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 80 0 0.00 77 35 31.25 - - - RYR2 0 genome.wustl.edu 37 1 237780728 237780728 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 237780728 237780728 T C SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.5852 p.M1951T 1.000 NULL 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 49 0 0.00 75 12 13.79 - - - RYR2 0 genome.wustl.edu 37 1 237893593 237893593 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 237893593 237893593 T C SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known silent c.10866 p.Y3622 1.000 NULL 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 86 0 0.00 132 20 13.16 - - - S100A10 0 genome.wustl.edu 37 1 151958689 151958689 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 151958689 151958689 T C SNP S100A10 ENST00000368809 human ensembl 69_37n -1 known silent c.18 p.E6 0.261 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub - no_errors S100A10 HGNC ENSG00000197747 133 0 0.00 162 31 16.06 - - - SAC3D1 0 genome.wustl.edu 37 11 64811984 64811984 + Silent SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 64811984 64811984 A C SNP SAC3D1 ENST00000398846 human ensembl 69_37n +1 known silent c.862 p.R288 0.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors SAC3D1 HGNC ENSG00000168061 40 0 0.00 41 23 35.38 - - - SAGE1 0 genome.wustl.edu 37 X 134991926 134991926 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 134991926 134991926 A G SNP SAGE1 ENST00000324447 human ensembl 69_37n +1 known missense c.1711 p.T571A 0.007 NULL NULL - no_errors SAGE1 HGNC ENSG00000181433 60 0 0.00 89 12 11.88 - - - SAMD15 0 genome.wustl.edu 37 14 77844722 77844722 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 77844722 77844722 A G SNP SAMD15 ENST00000216471 human ensembl 69_37n +1 known missense c.961 p.T321A 0.770 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD15 HGNC ENSG00000100583 23 0 0.00 16 16 50.00 - - - SAMD3 0 genome.wustl.edu 37 6 130536412 130536412 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 130536412 130536412 T C SNP SAMD3 ENST00000368134 human ensembl 69_37n -1 known missense c.7 p.T3A 1.000 pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD3 HGNC ENSG00000164483 107 0 0.00 109 52 32.10 - - - SAMD9 0 genome.wustl.edu 37 7 92731303 92731303 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 92731303 92731303 T C SNP SAMD9 ENST00000379958 human ensembl 69_37n -1 known missense c.4108 p.T1370A 0.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 86 0 0.00 113 23 16.91 - - - SAMD9 0 genome.wustl.edu 37 7 92731998 92731998 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 92731998 92731998 T C SNP SAMD9 ENST00000379958 human ensembl 69_37n -1 known missense c.3413 p.N1138S 0.002 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 123 0 0.00 161 46 22.22 - - - SARS 0 genome.wustl.edu 37 1 109779110 109779110 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 109779110 109779110 G A SNP SARS ENST00000369923 human ensembl 69_37n +1 known silent c.1197 p.T399 0.818 pirsf_Ser-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-synth_IIa,tigrfam_Ser-tRNA-synth_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_IIa_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-synth_IIa,tigrfam_Ser-tRNA-synth_IIa - no_errors SARS HGNC ENSG00000031698 71 0 0.00 75 29 27.62 - - - SARS 0 genome.wustl.edu 37 1 109780392 109780392 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 109780392 109780392 T A SNP SARS ENST00000369923 human ensembl 69_37n +1 known missense c.1493 p.I498N 1.000 NULL pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_IIa_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-synth_IIa,tigrfam_Ser-tRNA-synth_IIa - no_errors SARS HGNC ENSG00000031698 93 0 0.00 109 31 22.14 - - - SATB1 0 genome.wustl.edu 37 3 18438674 18438674 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 18438674 18438674 T C SNP SATB1 ENST00000338745 human ensembl 69_37n -1 known missense c.748 p.M250V 1.000 superfamily_Lambda_DNA-bd_dom pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 222 1 0.45 281 98 25.86 - - - SCN10A 0 genome.wustl.edu 37 3 38766669 38766669 + Missense_Mutation SNP G G C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 38766669 38766669 G C SNP SCN10A ENST00000449082 human ensembl 69_37n -1 known missense c.3224 p.A1075G 0.039 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 32 0 0.00 18 11 37.93 - - - SCN10A 0 genome.wustl.edu 37 3 38802201 38802201 + Frame_Shift_Del DEL G G - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 38802201 38802201 G - DEL SCN10A ENST00000449082 human ensembl 69_37n -1 known frame_shift_del c.921 p.L308fs 0.988 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 74 0 0.00 60 34 36.17 - - - SCRIB 0 genome.wustl.edu 37 8 144896281 144896281 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 144896281 144896281 A - DEL SCRIB ENST00000320476 human ensembl 69_37n -1 known frame_shift_del c.167 p.F56fs 1.000 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 34 0 0.00 38 7 15.56 - - - SCUBE2 0 genome.wustl.edu 37 11 9051439 9051439 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 9051439 9051439 T C SNP SCUBE2 ENST00000457346 human ensembl 69_37n -1 known missense c.2495 p.Q832R 1.000 pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Growth_fac_rcpt pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_CUB,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EGF-like,smart_CUB,pfscan_CUB,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 124 0 0.00 131 45 25.57 - - - SCYL1 0 genome.wustl.edu 37 11 65299138 65299138 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 65299138 65299138 T C SNP SCYL1 ENST00000270176 human ensembl 69_37n +1 known missense c.1100 p.I367T 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_errors SCYL1 HGNC ENSG00000142186 61 0 0.00 78 15 16.13 - - - SEC11A 0 genome.wustl.edu 37 15 85213987 85213987 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 85213987 85213987 G A SNP SEC11A ENST00000268220 human ensembl 69_37n -1 known missense c.458 p.T153M 0.998 tigrfam_Peptidase_S26B pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Peptidase_S26B,tigrfam_Peptidase_S26B - no_errors SEC11A HGNC ENSG00000140612 36 0 0.00 41 38 48.10 - - - SEC16B 0 genome.wustl.edu 37 1 177898979 177898979 + RNA SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 177898979 177898979 A G SNP SEC16B ENST00000327037 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors SEC16B Clone_based_vega_gene ENSG00000120341 107 0 0.00 145 40 21.62 - - - SEMG1 0 genome.wustl.edu 37 20 43836194 43836194 + Missense_Mutation SNP G G C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 43836194 43836194 G C SNP SEMG1 ENST00000372781 human ensembl 69_37n +1 known missense c.256 p.D86H 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG1 HGNC ENSG00000124233 100 0 0.00 76 47 38.21 - - - SENP7 0 genome.wustl.edu 37 3 101062691 101062691 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 101062691 101062691 A G SNP SENP7 ENST00000394095 human ensembl 69_37n -1 known silent c.1945 p.L649 0.148 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 41 0 0.00 65 25 27.78 - - - SENP7 0 genome.wustl.edu 37 3 101083810 101083810 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 101083810 101083810 T C SNP SENP7 ENST00000394095 human ensembl 69_37n -1 known silent c.1344 p.G448 0.850 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 98 0 0.00 120 40 24.84 - - - SEPT1 0 genome.wustl.edu 37 16 30389784 30389784 + Frame_Shift_Del DEL C C - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 30389784 30389784 C - DEL SEPT1 ENST00000321367 human ensembl 69_37n -1 known frame_shift_del c.1090 p.A364fs 0.988 pirsf_Septin pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pirsf_Septin - no_errors SEPT1 HGNC ENSG00000180096 39 0 0.00 35 5 11.36 - - - SERPINB2 0 genome.wustl.edu 37 18 61569726 61569726 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 18 61569726 61569726 T A SNP SERPINB2 ENST00000299502 human ensembl 69_37n +1 known missense c.767 p.L256H 1.000 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINB2 HGNC ENSG00000197632 97 0 0.00 115 47 28.83 - - - SETD2 0 genome.wustl.edu 37 3 47129671 47129671 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 47129671 47129671 T C SNP SETD2 ENST00000409792 human ensembl 69_37n -1 known missense c.5209 p.S1737G 1.000 NULL 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 63 0 0.00 73 43 37.07 - - - SF3A1 0 genome.wustl.edu 37 22 30736331 30736331 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 22 30736331 30736331 T C SNP SF3A1 ENST00000215793 human ensembl 69_37n -1 known missense c.1229 p.Y410C 1.000 pfam_PRP21-like pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin,superfamily_Surp,smart_Surp,smart_Ubiquitin,pfscan_Surp,pfscan_Ubiquitin_supergroup - no_errors SF3A1 HGNC ENSG00000099995 56 0 0.00 53 27 33.75 - - - SF3A2 0 genome.wustl.edu 37 19 2247002 2247002 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 2247002 2247002 A G SNP SF3A2 ENST00000221494 human ensembl 69_37n +1 known missense c.527 p.Y176C 0.998 NULL smart_Znf_U1,pfscan_Znf_C2H2_matrin - no_errors SF3A2 HGNC ENSG00000104897 32 0 0.00 31 6 15.79 - - - SF3B3 0 genome.wustl.edu 37 16 70566408 70566408 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 70566408 70566408 A G SNP SF3B3 ENST00000302516 human ensembl 69_37n +1 known silent c.597 p.E199 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 77 0 0.00 102 21 17.07 - - - SF3B3 0 genome.wustl.edu 37 16 70566471 70566471 + Silent SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 70566471 70566471 G T SNP SF3B3 ENST00000302516 human ensembl 69_37n +1 known silent c.660 p.V220 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 90 0 0.00 109 26 19.26 - - - SFTPB 0 genome.wustl.edu 37 2 85894924 85894924 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 85894924 85894924 A G SNP SFTPB ENST00000393822 human ensembl 69_37n -1 known missense c.109 p.W37R 0.000 pfscan_SapA,prints_Saposin pfam_SapB_2,pfam_SapA,pfam_SapB_1,superfamily_Saposin-like,smart_SapA,smart_SaposinB,pfscan_SapA,pfscan_SaposinB,prints_Saposin - no_errors SFTPB HGNC ENSG00000168878 21 0 0.00 29 20 40.82 - - - SGCE 0 genome.wustl.edu 37 7 94259146 94259146 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 94259146 94259146 A G SNP SGCE ENST00000445866 human ensembl 69_37n -1 known silent c.117 p.S39 0.982 pfam_Sarcoglycan_2 pfam_Sarcoglycan_2,superfamily_Cadherin-like,smart_Cadg - no_errors SGCE HGNC ENSG00000127990 61 0 0.00 66 27 29.03 - - - SGPP2 0 genome.wustl.edu 37 2 223389675 223389675 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 223389675 223389675 T C SNP SGPP2 ENST00000321276 human ensembl 69_37n +1 known silent c.571 p.L191 0.084 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors SGPP2 HGNC ENSG00000163082 277 1 0.36 369 70 15.91 - - - SH3D19 0 genome.wustl.edu 37 4 152080503 152080503 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 152080503 152080503 A G SNP SH3D19 ENST00000304527 human ensembl 69_37n -1 known silent c.804 p.C268 1.000 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,prints_p67phox,prints_SH3_domain,pfscan_SH3_domain - no_errors SH3D19 HGNC ENSG00000109686 116 0 0.00 112 61 35.06 - - - SH3PXD2B 0 genome.wustl.edu 37 5 171809077 171809077 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 171809077 171809077 A G SNP SH3PXD2B ENST00000311601 human ensembl 69_37n -1 known missense c.364 p.F122L 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 33 0 0.00 41 13 24.07 - - - SHKBP1 0 genome.wustl.edu 37 19 41095083 41095083 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 41095083 41095083 C T SNP SHKBP1 ENST00000291842 human ensembl 69_37n +1 known missense c.1588 p.R530W 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors SHKBP1 HGNC ENSG00000160410 56 0 0.00 51 27 34.62 - - - SLC10A5 0 genome.wustl.edu 37 8 82606776 82606776 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 82606776 82606776 T C SNP SLC10A5 ENST00000518568 human ensembl 69_37n -1 known silent c.432 p.L144 0.003 NULL pfam_BilAc/Na_symport - no_errors SLC10A5 HGNC ENSG00000253598 113 0 0.00 137 73 34.76 - - - SLC15A3 0 genome.wustl.edu 37 11 60711201 60711201 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 60711201 60711201 A G SNP SLC15A3 ENST00000227880 human ensembl 69_37n -1 known missense c.956 p.V319A 0.990 pfam_Oligopeptide_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_Oligopeptide_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A3 HGNC ENSG00000110446 91 0 0.00 56 35 38.46 - - - SLC16A7 0 genome.wustl.edu 37 12 60173290 60173290 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 60173290 60173290 A G SNP SLC16A7 ENST00000261187 human ensembl 69_37n +1 known missense c.1267 p.I423V 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Monocarb_transpt - no_errors SLC16A7 HGNC ENSG00000118596 49 0 0.00 42 27 39.13 - - - SLC25A10 0 genome.wustl.edu 37 17 79684474 79684474 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 79684474 79684474 T C SNP SLC25A10 ENST00000541223 human ensembl 69_37n +1 known missense c.1045 p.Y349H 0.048 superfamily_Mt_carrier_dom,prints_Mit_uncoupling pfam_Mitochondrial_sb/sol_carrier,pfam_Ribosomal_L7/L12_C,superfamily_Mt_carrier_dom,superfamily_Ribosomal_L7/L12_oligo,prints_Mit_uncoupling,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A10 HGNC ENSG00000183048 80 0 0.00 75 28 26.92 - - - SLC25A20 0 genome.wustl.edu 37 3 48929454 48929454 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 48929454 48929454 A G SNP SLC25A20 ENST00000319017 human ensembl 69_37n -1 known missense c.157 p.S53P 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A20 HGNC ENSG00000178537 57 0 0.00 45 29 39.19 - - - SLC26A4 0 genome.wustl.edu 37 7 107335077 107335077 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 107335077 107335077 A G SNP SLC26A4 ENST00000265715 human ensembl 69_37n +1 known silent c.1353 p.A451 0.993 pfam_Sulph_transpt,tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A4 HGNC ENSG00000091137 169 0 0.00 188 63 25.10 - - - SLC35B3 0 genome.wustl.edu 37 6 8417714 8417714 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 8417714 8417714 T C SNP SLC35B3 ENST00000379660 human ensembl 69_37n -1 known missense c.794 p.Y265C 1.000 pfam_UAA pfam_UAA - no_errors SLC35B3 HGNC ENSG00000124786 58 0 0.00 97 33 25.38 - - - SLC35B4 0 genome.wustl.edu 37 7 133981152 133981152 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 133981152 133981152 A G SNP SLC35B4 ENST00000378509 human ensembl 69_37n -1 known missense c.740 p.I247T 1.000 pfam_UAA,pfam_DUF250 pfam_UAA,pfam_DUF250 - no_errors SLC35B4 HGNC ENSG00000205060 63 0 0.00 81 23 22.12 - - - SLC35E2 0 genome.wustl.edu 37 1 1670469 1670469 + Missense_Mutation SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 1670469 1670469 A C SNP SLC35E2 ENST00000246421 human ensembl 69_37n -1 known missense c.350 p.V117G 0.580 pfam_DMT pfam_DMT - no_errors SLC35E2 HGNC ENSG00000215790 227 1 0.43 240 54 18.31 - - - SLC37A4 0 genome.wustl.edu 37 11 118899010 118899010 + RNA SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 118899010 118899010 A G SNP SLC37A4 ENST00000330775 human ensembl 69_37n -1 known rna NULL NULL 0.961 - - - no_errors SLC37A4 HGNC ENSG00000137700 57 0 0.00 51 39 43.33 - - - SLC38A9 0 genome.wustl.edu 37 5 54948414 54948414 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 54948414 54948414 G A SNP SLC38A9 ENST00000318672 human ensembl 69_37n -1 known missense c.895 p.L299F 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A9 HGNC ENSG00000177058 49 0 0.00 39 24 38.10 - - - SLC39A5 0 genome.wustl.edu 37 12 56629477 56629477 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 56629477 56629477 T C SNP SLC39A5 ENST00000266980 human ensembl 69_37n +1 known missense c.938 p.L313P 0.999 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 86 0 0.00 47 25 34.72 - - - SLC4A7 0 genome.wustl.edu 37 3 27446348 27446348 + Missense_Mutation SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 27446348 27446348 A C SNP SLC4A7 ENST00000454389 human ensembl 69_37n -1 known missense c.2048 p.F683C 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk - no_errors SLC4A7 HGNC ENSG00000033867 57 0 0.00 52 30 36.59 - - - SLC5A9 0 genome.wustl.edu 37 1 48705123 48705123 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 48705123 48705123 C A SNP SLC5A9 ENST00000236495 human ensembl 69_37n +1 known missense c.1666 p.L556M 1.000 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A9 HGNC ENSG00000117834 183 0 0.00 201 69 25.56 - - - SLC6A2 0 genome.wustl.edu 37 16 55730220 55730220 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 55730220 55730220 A G SNP SLC6A2 ENST00000219833 human ensembl 69_37n +1 known missense c.1231 p.M411V 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 168 0 0.00 207 40 16.19 - - - SLC6A4 0 genome.wustl.edu 37 17 28548756 28548756 + Missense_Mutation SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 28548756 28548756 A C SNP SLC6A4 ENST00000261707 human ensembl 69_37n -1 known missense c.221 p.L74R 0.004 NULL pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N - no_errors SLC6A4 HGNC ENSG00000108576 148 1 0.67 128 23 15.23 - - - SMAP2 0 genome.wustl.edu 37 1 40881847 40881847 + Splice_Site SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 40881847 40881847 G T SNP SMAP2 ENST00000372718 human ensembl 69_37n +1 known splice_site c.682-1 e8-1 1.000 - - - no_errors SMAP2 HGNC ENSG00000084070 84 0 0.00 88 21 19.27 - - - SMCHD1 0 genome.wustl.edu 37 18 2732390 2732390 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 18 2732390 2732390 A G SNP SMCHD1 ENST00000320876 human ensembl 69_37n +1 known missense c.3176 p.N1059S 0.997 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_ATPase-like_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 103 0 0.00 101 23 18.55 - - - SMCP 0 genome.wustl.edu 37 1 152857068 152857068 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 152857068 152857068 A G SNP SMCP ENST00000368765 human ensembl 69_37n +1 known missense c.170 p.H57R 0.000 NULL NULL - no_errors SMCP HGNC ENSG00000163206 88 0 0.00 141 23 13.94 - - - SMG1 0 genome.wustl.edu 37 16 18841308 18841308 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 18841308 18841308 T - DEL SMG1 ENST00000389467 human ensembl 69_37n -1 known frame_shift_del c.9073 p.R3025fs 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 46 0 0.00 49 23 31.94 - - - SMG1 0 genome.wustl.edu 37 16 18846392 18846392 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 18846392 18846392 T C SNP SMG1 ENST00000389467 human ensembl 69_37n -1 known missense c.8152 p.N2718D 1.000 superfamily_ARM-type_fold 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 71 0 0.00 68 33 32.67 - - - SMG8 0 genome.wustl.edu 37 17 57292288 57292288 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 57292288 57292288 T - DEL SMG8 ENST00000300917 human ensembl 69_37n +1 known frame_shift_del c.2901 p.F968fs 1.000 pfam_Smg8/Smg9 pfam_Smg8/Smg9 - no_errors SMG8 HGNC ENSG00000167447 88 0 0.00 74 43 35.83 - - - SMYD1 0 genome.wustl.edu 37 2 88409969 88409969 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 88409969 88409969 A G SNP SMYD1 ENST00000419482 human ensembl 69_37n +1 known missense c.1411 p.M471V 1.000 NULL pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 51 0 0.00 68 8 10.53 - - - SNRNP200 0 genome.wustl.edu 37 2 96950287 96950287 + Missense_Mutation SNP G G C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 96950287 96950287 G C SNP SNRNP200 ENST00000323853 human ensembl 69_37n -1 known missense c.4201 p.L1401V 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 136 0 0.00 167 27 13.92 - - - SNRNP27 0 genome.wustl.edu 37 2 70131463 70131463 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 70131463 70131463 T - DEL SNRNP27 ENST00000409116 human ensembl 69_37n +1 novel frame_shift_del c.426 p.S145fs 0.141 NULL pfam_DUF1777 - no_errors SNRNP27 HGNC ENSG00000124380 137 0 0.00 203 34 14.23 - - - SOHLH2 0 genome.wustl.edu 37 13 36748865 36748865 + Missense_Mutation SNP C C G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 13 36748865 36748865 C G SNP SOHLH2 ENST00000554962 human ensembl 69_37n -1 known missense c.1014 p.M338I 0.197 superfamily_HLH_DNA-bd pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors SOHLH2 HGNC ENSG00000120669 84 0 0.00 104 38 26.76 - - - SON 0 genome.wustl.edu 37 21 34922290 34922290 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 21 34922290 34922290 T C SNP SON ENST00000356577 human ensembl 69_37n +1 known silent c.753 p.P251 0.096 NULL pfam_G_patch_dom,superfamily_WD40_repeat_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_Ds-RNA-bd - no_errors SON HGNC ENSG00000159140 29 0 0.00 21 9 30.00 - - - SON 0 genome.wustl.edu 37 21 34926937 34926937 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 21 34926937 34926937 C T SNP SON ENST00000436227 human ensembl 69_37n +1 novel missense c.2384 p.T795M 1.000 NULL pfam_G_patch_dom,pfam_Ds-RNA-bd,smart_G_patch_dom,smart_Ds-RNA-bd,pfscan_G_patch_dom,pfscan_Ds-RNA-bd - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SON HGNC ENSG00000159140 18 0 0.00 25 9 25.71 - - - SPAG1 0 genome.wustl.edu 37 8 101178092 101178092 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 101178092 101178092 A G SNP SPAG1 ENST00000251809 human ensembl 69_37n +1 known missense c.191 p.H64R 0.995 NULL pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SPAG1 HGNC ENSG00000104450 52 0 0.00 83 27 24.32 - - - SPATA16 0 genome.wustl.edu 37 3 172737320 172737320 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 172737320 172737320 T C SNP SPATA16 ENST00000351008 human ensembl 69_37n -1 known silent c.804 p.Q268 0.998 NULL NULL - no_errors SPATA16 HGNC ENSG00000144962 140 0 0.00 221 50 18.45 - - - SPEF2 0 genome.wustl.edu 37 5 35705894 35705894 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 35705894 35705894 A - DEL SPEF2 ENST00000356031 human ensembl 69_37n +1 known frame_shift_del c.2649 p.K886fs 0.129 NULL pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 37 0 0.00 36 20 35.71 - - - SPNS2 0 genome.wustl.edu 37 17 4434032 4434032 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 4434032 4434032 C T SNP SPNS2 ENST00000329078 human ensembl 69_37n +1 known missense c.679 p.R227C 0.811 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS2 HGNC ENSG00000183018 36 0 0.00 26 16 37.21 - - - SPPL2B 0 genome.wustl.edu 37 19 2344416 2344416 + RNA SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 2344416 2344416 T C SNP SPPL2B ENST00000452401 human ensembl 69_37n +1 known rna NULL NULL 0.756 - - - no_errors SPPL2B HGNC ENSG00000005206 67 0 0.00 48 31 39.24 - - - SPTA1 0 genome.wustl.edu 37 1 158639290 158639290 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 158639290 158639290 A T SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known missense c.1741 p.S581T 1.000 NULL pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 129 0 0.00 190 46 19.25 - - - SPTBN1 0 genome.wustl.edu 37 2 54852083 54852083 + Missense_Mutation SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 54852083 54852083 A C SNP SPTBN1 ENST00000356805 human ensembl 69_37n +1 known missense c.1325 p.Q442P 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 51 0 0.00 49 29 37.18 - - - SPTLC1 0 genome.wustl.edu 37 9 94812243 94812243 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 94812243 94812243 T A SNP SPTLC1 ENST00000262554 human ensembl 69_37n -1 known missense c.887 p.N296I 0.965 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC1 HGNC ENSG00000090054 72 0 0.00 59 13 18.06 - - - SPTLC3 0 genome.wustl.edu 37 20 13145424 13145424 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 13145424 13145424 G T SNP SPTLC3 ENST00000399002 human ensembl 69_37n +1 known missense c.1569 p.M523I 0.917 superfamily_PyrdxlP-dep_Trfase_major_dom pfam_Aminotransferase_I/II,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors SPTLC3 HGNC ENSG00000172296 84 0 0.00 70 44 38.26 - - - SRPK3 0 genome.wustl.edu 37 X 153047249 153047249 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 153047249 153047249 G A SNP SRPK3 ENST00000430541 human ensembl 69_37n +1 putative missense c.392 p.R131Q 0.000 pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SRPK3 HGNC ENSG00000184343 76 0 0.00 63 23 26.74 - - - SRRM2 0 genome.wustl.edu 37 16 2816852 2816852 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 2816852 2816852 C A SNP SRRM2 ENST00000301740 human ensembl 69_37n +1 known missense c.6323 p.A2108E 0.369 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 51 0 0.00 34 33 49.25 - - - ST6GALNAC2 0 genome.wustl.edu 37 17 74566662 74566662 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 74566662 74566662 A G SNP ST6GALNAC2 ENST00000225276 human ensembl 69_37n -1 known missense c.758 p.L253P 0.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GALNAC2 HGNC ENSG00000070731 52 0 0.00 74 12 13.95 - - - STAB1 0 genome.wustl.edu 37 3 52544367 52544367 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 52544367 52544367 T C SNP STAB1 ENST00000321725 human ensembl 69_37n +1 known silent c.2631 p.A877 0.953 smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EGF-like,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 118 0 0.00 68 38 35.85 - - - STAG3L4 0 genome.wustl.edu 37 7 66774043 66774043 + RNA SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 66774043 66774043 T A SNP STAG3L4 ENST00000416602 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors STAG3L4 HGNC ENSG00000106610 163 0 0.00 182 61 25.10 - - - STARD7 0 genome.wustl.edu 37 2 96852623 96852623 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 96852623 96852623 T C SNP STARD7 ENST00000337288 human ensembl 69_37n -1 known missense c.958 p.M320V 0.849 pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd pfam_START_lipid-bd,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors STARD7 HGNC ENSG00000084090 89 0 0.00 69 39 36.11 - - - STAT2 0 genome.wustl.edu 37 12 56743379 56743379 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 56743379 56743379 G A SNP STAT2 ENST00000314128 human ensembl 69_37n -1 known silent c.1251 p.S417 0.998 pfam_STAT_TF_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,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 STAT2 HGNC ENSG00000170581 107 0 0.00 90 52 36.11 - - - STK36 0 genome.wustl.edu 37 2 219549920 219549920 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 219549920 219549920 T A SNP STK36 ENST00000295709 human ensembl 69_37n +1 known missense c.1349 p.I450N 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 STK36 HGNC ENSG00000163482 75 0 0.00 71 38 34.55 - - - STK38L 0 genome.wustl.edu 37 12 27470917 27470917 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 27470917 27470917 A G SNP STK38L ENST00000389032 human ensembl 69_37n +1 known silent c.1044 p.V348 0.773 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors STK38L HGNC ENSG00000211455 44 0 0.00 51 20 28.17 - - - STOX1 0 genome.wustl.edu 37 10 70641762 70641762 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 70641762 70641762 T C SNP STOX1 ENST00000298596 human ensembl 69_37n +1 known missense c.359 p.V120A 1.000 pfam_Storkhead-box_winged-helix pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 155 0 0.00 176 66 27.27 - - - STRN 0 genome.wustl.edu 37 2 37129876 37129876 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 37129876 37129876 A G SNP STRN ENST00000263918 human ensembl 69_37n -1 known silent c.510 p.G170 0.924 pfam_Striatin_N pfam_Striatin_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors STRN HGNC ENSG00000115808 99 0 0.00 102 17 14.29 - - - SUCO 0 genome.wustl.edu 37 1 172571219 172571219 + Missense_Mutation SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 172571219 172571219 A C SNP SUCO ENST00000367723 human ensembl 69_37n +1 known missense c.3490 p.S1164R 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 130 0 0.00 187 47 20.09 - - - SUGP1 0 genome.wustl.edu 37 19 19414180 19414180 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 19414180 19414180 T C SNP SUGP1 ENST00000247001 human ensembl 69_37n -1 known missense c.740 p.K247R 0.849 superfamily_Surp pfam_Surp,pfam_G_patch_dom,superfamily_Surp,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors SUGP1 HGNC ENSG00000105705 166 0 0.00 169 38 18.36 - - - SUN2 0 genome.wustl.edu 37 22 39137537 39137537 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 22 39137537 39137537 A T SNP SUN2 ENST00000216064 human ensembl 69_37n -1 known missense c.1108 p.S370T 0.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUN2 HGNC ENSG00000100242 104 0 0.00 110 13 10.57 - - - SUPT5H 0 genome.wustl.edu 37 19 39959502 39959502 + Splice_Site SNP G G C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 39959502 39959502 G C SNP SUPT5H ENST00000359191 human ensembl 69_37n +1 known splice_site c.1143+1 e13+1 1.000 - - - no_errors SUPT5H HGNC ENSG00000196235 87 0 0.00 100 36 26.47 - - - SUPT6H 0 genome.wustl.edu 37 17 27017178 27017178 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 27017178 27017178 T C SNP SUPT6H ENST00000314616 human ensembl 69_37n +1 known missense c.3421 p.Y1141H 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 57 0 0.00 76 30 28.30 - - - SUPV3L1 0 genome.wustl.edu 37 10 70946251 70946251 + Silent SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 70946251 70946251 T G SNP SUPV3L1 ENST00000359655 human ensembl 69_37n +1 known silent c.402 p.S134 0.996 NULL pfam_SUV3_C,pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C - no_errors SUPV3L1 HGNC ENSG00000156502 186 0 0.00 233 73 23.86 - - - SYN1 0 genome.wustl.edu 37 X 47432291 47432291 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 47432291 47432291 T A SNP SYN1 ENST00000295987 human ensembl 69_37n -1 known missense c.2090 p.K697M 1.000 NULL pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin - no_errors SYN1 HGNC ENSG00000008056 119 0 0.00 105 25 19.23 - - - SYNCRIP 0 genome.wustl.edu 37 6 86351110 86351110 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 86351110 86351110 A T SNP SYNCRIP ENST00000369622 human ensembl 69_37n -1 known missense c.48 p.D16E 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 102 0 0.00 142 61 29.90 - - - SYNE1 0 genome.wustl.edu 37 6 152737585 152737585 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 152737585 152737585 T C SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known missense c.5987 p.D1996G 1.000 superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1 pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 163 0 0.00 123 104 45.81 - - - SYNE2 0 genome.wustl.edu 37 14 64678806 64678806 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 64678806 64678806 G A SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.18851 p.R6284H 1.000 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 59 0 0.00 58 29 33.33 - - - SYT8 0 genome.wustl.edu 37 11 1858526 1858526 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 1858526 1858526 G A SNP SYT8 ENST00000381978 human ensembl 69_37n +1 putative missense c.1066 p.A356T 0.998 superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_Synaptotagmin,pfscan_C2_membr_targeting - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SYT8 HGNC ENSG00000149043 23 0 0.00 13 14 51.85 - - - TAAR1 0 genome.wustl.edu 37 6 132966199 132966199 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 132966199 132966199 A G SNP TAAR1 ENST00000275216 human ensembl 69_37n -1 known missense c.944 p.L315P 0.989 pfam_7TM_GPCR_olfarory/Srsx pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_Trac_amin_rcpt_1,prints_Trace_amine_rcpt - no_errors TAAR1 HGNC ENSG00000146399 37 0 0.00 60 8 11.76 - - - TAF1B 0 genome.wustl.edu 37 2 9989571 9989571 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 9989571 9989571 A - DEL TAF1B ENST00000263663 human ensembl 69_37n +1 known frame_shift_del c.187 p.N66fs 0.991 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 29 0 0.00 19 24 53.33 - - - TANC1 0 genome.wustl.edu 37 2 160007062 160007062 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 160007062 160007062 T A SNP TANC1 ENST00000263635 human ensembl 69_37n +1 known missense c.677 p.I226N 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 49 0 0.00 60 27 31.03 - - - TAS2R41 0 genome.wustl.edu 37 7 143175191 143175191 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 143175191 143175191 T C SNP TAS2R41 ENST00000408916 human ensembl 69_37n +1 known missense c.226 p.Y76H 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R41 HGNC ENSG00000221855 112 0 0.00 109 42 27.81 - - - TATDN1 0 genome.wustl.edu 37 8 125507778 125507778 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 125507778 125507778 A G SNP TATDN1 ENST00000276692 human ensembl 69_37n -1 known missense c.599 p.L200P 1.000 pfam_TatD_superfamily,pirsf_DNase_TatD pfam_TatD_superfamily,pirsf_DNase_TatD - no_errors TATDN1 HGNC ENSG00000147687 41 0 0.00 69 11 13.75 - - - TBATA 0 genome.wustl.edu 37 10 72541685 72541685 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 72541685 72541685 T C SNP TBATA ENST00000299290 human ensembl 69_37n -1 known missense c.149 p.E50G 0.010 NULL NULL - no_errors TBATA HGNC ENSG00000166220 102 1 0.97 90 15 14.29 - - - TBC1D12 0 genome.wustl.edu 37 10 96271382 96271382 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 96271382 96271382 T C SNP TBC1D12 ENST00000225235 human ensembl 69_37n +1 known missense c.1732 p.Y578H 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D12 HGNC ENSG00000108239 201 0 0.00 120 107 47.14 - - - TBC1D15 0 genome.wustl.edu 37 12 72300837 72300837 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 72300837 72300837 T C SNP TBC1D15 ENST00000550746 human ensembl 69_37n +1 known missense c.1270 p.F424L 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D15 HGNC ENSG00000121749 241 0 0.00 229 52 18.44 - - - TBC1D17 0 genome.wustl.edu 37 19 50387588 50387588 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 50387588 50387588 A G SNP TBC1D17 ENST00000221543 human ensembl 69_37n +1 known missense c.1205 p.D402G 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D17 HGNC ENSG00000104946 71 0 0.00 45 38 45.24 - - - TBCD 0 genome.wustl.edu 37 17 80755680 80755680 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 80755680 80755680 T C SNP TBCD ENST00000355528 human ensembl 69_37n +1 known splice_site c.817+2 e8+2 1.000 - - - no_errors TBCD HGNC ENSG00000141556 204 0 0.00 367 89 19.35 - - - TBKBP1 0 genome.wustl.edu 37 17 45787926 45787926 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 45787926 45787926 T C SNP TBKBP1 ENST00000361722 human ensembl 69_37n +1 known silent c.1782 p.P594 0.190 NULL NULL - no_errors TBKBP1 HGNC ENSG00000198933 21 0 0.00 27 7 20.00 - - - TCERG1 0 genome.wustl.edu 37 5 145838842 145838842 + Silent SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 145838842 145838842 C A SNP TCERG1 ENST00000296702 human ensembl 69_37n +1 known silent c.834 p.T278 1.000 NULL pfam_FF_domain,pfam_WW_Rsp5_WWP,superfamily_FF_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_FF_domain,pfscan_WW_Rsp5_WWP - no_errors TCERG1 HGNC ENSG00000113649 95 0 0.00 84 23 21.50 - - - TCF12 0 genome.wustl.edu 37 15 57524621 57524621 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 57524621 57524621 A G SNP TCF12 ENST00000438423 human ensembl 69_37n +1 known missense c.818 p.D273G 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TCF12 HGNC ENSG00000140262 80 0 0.00 74 33 30.84 - - - TCF7L2 0 genome.wustl.edu 37 10 114849235 114849235 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 114849235 114849235 A T SNP TCF7L2 ENST00000355717 human ensembl 69_37n +1 known missense c.560 p.Q187L 0.993 pfam_CTNNB1-bd_N pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TCF7L2 HGNC ENSG00000148737 68 0 0.00 52 21 28.38 - - - TCF7L2 0 genome.wustl.edu 37 10 114925317 114925317 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 114925317 114925317 A - DEL TCF7L2 ENST00000355995 human ensembl 69_37n +1 known frame_shift_del c.1446 p.K485fs 1.000 NULL pfam_CTNNB1-bd_N,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors TCF7L2 HGNC ENSG00000148737 8 0 0.00 9 4 30.77 - - - TDRD12 0 genome.wustl.edu 37 19 33222673 33222673 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 33222673 33222673 A G SNP TDRD12 ENST00000444215 human ensembl 69_37n +1 known missense c.67 p.S23G 0.005 pfam_Tudor pfam_Tudor,pfam_DNA/RNA_helicase_DEAD/DEAH_N - no_errors TDRD12 HGNC ENSG00000173809 53 0 0.00 63 29 31.52 - - - TDRD5 0 genome.wustl.edu 37 1 179587762 179587762 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 179587762 179587762 C T SNP TDRD5 ENST00000444136 human ensembl 69_37n +1 known missense c.860 p.A287V 1.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 59 0 0.00 100 15 12.93 - - - TDRD7 0 genome.wustl.edu 37 9 100245337 100245337 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 100245337 100245337 T C SNP TDRD7 ENST00000355295 human ensembl 69_37n +1 known silent c.2619 p.T873 0.041 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD7 HGNC ENSG00000196116 46 0 0.00 75 12 13.79 - - - TEKT2 0 genome.wustl.edu 37 1 36551436 36551436 + Splice_Site SNP G G C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 36551436 36551436 G C SNP TEKT2 ENST00000207457 human ensembl 69_37n +1 known splice_site c.283-1 e3-1 1.000 - - - no_errors TEKT2 HGNC ENSG00000092850 45 0 0.00 43 21 32.81 - - - TEKT5 0 genome.wustl.edu 37 16 10775958 10775958 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 10775958 10775958 T C SNP TEKT5 ENST00000283025 human ensembl 69_37n -1 known missense c.755 p.D252G 0.996 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT5 HGNC ENSG00000153060 122 0 0.00 126 48 27.59 - - - TEPP 0 genome.wustl.edu 37 16 58018605 58018605 + Silent SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 58018605 58018605 G T SNP TEPP ENST00000290871 human ensembl 69_37n +1 known silent c.516 p.A172 0.037 NULL NULL - no_errors TEPP HGNC ENSG00000159648 23 0 0.00 22 6 21.43 - - - TET2 0 genome.wustl.edu 37 4 106196748 106196748 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 106196748 106196748 T C SNP TET2 ENST00000380013 human ensembl 69_37n +1 known missense c.5081 p.L1694S 0.991 NULL NULL - no_errors TET2 HGNC ENSG00000168769 65 0 0.00 65 29 30.85 - - - TEX15 0 genome.wustl.edu 37 8 30701524 30701524 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 30701524 30701524 T C SNP TEX15 ENST00000256246 human ensembl 69_37n -1 known silent c.5010 p.V1670 0.306 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 91 0 0.00 114 43 27.39 - - - TGFBI 0 genome.wustl.edu 37 5 135382083 135382083 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 5 135382083 135382083 C A SNP TGFBI ENST00000305126 human ensembl 69_37n +1 known missense c.358 p.L120M 1.000 pirsf_TGFb-ind_bIGH3/osteoblast_fac2,superfamily_FAS1_domain,pfscan_FAS1_domain pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors TGFBI HGNC ENSG00000120708 36 0 0.00 23 14 37.84 - - - THADA 0 genome.wustl.edu 37 2 43655254 43655254 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 43655254 43655254 A T SNP THADA ENST00000405006 human ensembl 69_37n -1 known missense c.4043 p.V1348D 0.961 superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 44 0 0.00 65 16 19.75 - - - THAP1 0 genome.wustl.edu 37 8 42693202 42693202 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 42693202 42693202 T C SNP THAP1 ENST00000254250 human ensembl 69_37n -1 known missense c.545 p.E182G 0.999 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP1 HGNC ENSG00000131931 114 0 0.00 137 38 21.71 - - - THAP2 0 genome.wustl.edu 37 12 72070747 72070747 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 72070747 72070747 A G SNP THAP2 ENST00000308086 human ensembl 69_37n +1 known silent c.546 p.L182 0.970 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP2 HGNC ENSG00000173451 43 0 0.00 20 8 28.57 - - - THEMIS 0 genome.wustl.edu 37 6 128134626 128134626 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 128134626 128134626 T C SNP THEMIS ENST00000543064 human ensembl 69_37n -1 known missense c.1160 p.D387G 1.000 NULL NULL - no_errors THEMIS HGNC ENSG00000172673 62 0 0.00 80 38 31.93 - - - THOC2 0 genome.wustl.edu 37 X 122765548 122765548 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 122765548 122765548 A G SNP THOC2 ENST00000245838 human ensembl 69_37n -1 known silent c.2472 p.H824 0.997 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 83 0 0.00 84 43 33.86 - - - THUMPD3 0 genome.wustl.edu 37 3 9412821 9412821 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 9412821 9412821 T C SNP THUMPD3 ENST00000345094 human ensembl 69_37n +1 known silent c.408 p.N136 0.354 NULL pfam_RNA_methylase_dom,pfam_THUMP,smart_THUMP,pfscan_THUMP - no_errors THUMPD3 HGNC ENSG00000134077 36 0 0.00 42 16 27.12 - - - TJAP1 0 genome.wustl.edu 37 6 43473343 43473343 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 43473343 43473343 C A SNP TJAP1 ENST00000372445 human ensembl 69_37n +1 known missense c.1424 p.P475H 0.016 NULL NULL - no_errors TJAP1 HGNC ENSG00000137221 17 0 0.00 14 7 33.33 - - - TJP2 0 genome.wustl.edu 37 9 71827470 71827470 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 71827470 71827470 G T SNP TJP2 ENST00000539225 human ensembl 69_37n +1 known missense c.160 p.G54C 1.000 NULL pfam_PDZ,pfam_Guanylate_kin,pfam_SH3_2,superfamily_PDZ,superfamily_SH3_domain,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_ZonOcculS2,prints_ZonOcculdens - no_errors TJP2 HGNC ENSG00000119139 73 0 0.00 108 14 11.48 - - - TLN2 0 genome.wustl.edu 37 15 62990999 62990999 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 62990999 62990999 A G SNP TLN2 ENST00000306829 human ensembl 69_37n +1 known missense c.1520 p.H507R 0.999 pfam_Talin_cent,superfamily_Talin_cent pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN2 HGNC ENSG00000171914 42 0 0.00 38 43 53.09 - - - TLN2 0 genome.wustl.edu 37 15 63047807 63047807 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 63047807 63047807 C T SNP TLN2 ENST00000306829 human ensembl 69_37n +1 known missense c.4553 p.T1518M 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN2 HGNC ENSG00000171914 51 0 0.00 18 33 64.71 - - - TLR8 0 genome.wustl.edu 37 X 12937583 12937583 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 12937583 12937583 T G SNP TLR8 ENST00000218032 human ensembl 69_37n +1 known missense c.424 p.S142A 0.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 64 0 0.00 57 20 25.97 - - - TMCO1 0 genome.wustl.edu 37 1 165721405 165721405 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 165721405 165721405 A G SNP TMCO1 ENST00000367881 human ensembl 69_37n -1 known missense c.410 p.V137A 1.000 pfam_DUF106_TM pfam_DUF106_TM - no_errors TMCO1 HGNC ENSG00000143183 63 0 0.00 106 17 13.82 - - - TMEM117 0 genome.wustl.edu 37 12 44782339 44782339 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 44782339 44782339 G A SNP TMEM117 ENST00000266534 human ensembl 69_37n +1 known missense c.1429 p.V477I 0.911 NULL NULL - no_errors TMEM117 HGNC ENSG00000139173 73 0 0.00 71 38 34.86 - - - TMEM169 0 genome.wustl.edu 37 2 216964712 216964712 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 216964712 216964712 A G SNP TMEM169 ENST00000295658 human ensembl 69_37n +1 known missense c.341 p.K114R 1.000 NULL NULL - no_errors TMEM169 HGNC ENSG00000163449 56 0 0.00 93 17 15.45 - - - TMEM19 0 genome.wustl.edu 37 12 72094702 72094702 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 72094702 72094702 T C SNP TMEM19 ENST00000266673 human ensembl 69_37n +1 known missense c.938 p.V313A 1.000 pfam_DUF92_TMEM19 pfam_DUF92_TMEM19 - no_errors TMEM19 HGNC ENSG00000139291 138 0 0.00 104 65 38.46 - - - TMEM87A 0 genome.wustl.edu 37 15 42536296 42536296 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 42536296 42536296 A G SNP TMEM87A ENST00000389834 human ensembl 69_37n -1 known missense c.574 p.S192P 0.977 NULL pfam_TM_rcpt_euk - no_errors TMEM87A HGNC ENSG00000103978 116 0 0.00 73 63 46.32 - - - TMEM8C 0 genome.wustl.edu 37 9 136379898 136379898 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 136379898 136379898 A T SNP TMEM8C ENST00000339996 human ensembl 69_37n -1 known missense c.526 p.Y176N 0.997 pfam_DUF3522 pfam_DUF3522 - no_errors TMEM8C HGNC ENSG00000187616 57 0 0.00 53 19 26.03 - - - TNFAIP2 0 genome.wustl.edu 37 14 103597436 103597436 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 103597436 103597436 C A SNP TNFAIP2 ENST00000333007 human ensembl 69_37n +1 known missense c.1247 p.T416K 0.000 pfam_Sec6 pfam_Sec6 - no_errors TNFAIP2 HGNC ENSG00000185215 63 0 0.00 80 22 21.57 - - - TNFRSF17 0 genome.wustl.edu 37 16 12061488 12061488 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 12061488 12061488 T C SNP TNFRSF17 ENST00000053243 human ensembl 69_37n +1 known silent c.339 p.I113 0.000 pirsf_TNFR_17,prints_TNFR_17 pfam_BCMA_Tall-1-bd,pirsf_TNFR_17,prints_TNFR_17,prints_TNFR_13C - no_errors TNFRSF17 HGNC ENSG00000048462 34 0 0.00 38 26 40.62 - - - TNIK 0 genome.wustl.edu 37 3 170895125 170895125 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 170895125 170895125 T - DEL TNIK ENST00000436636 human ensembl 69_37n -1 known frame_shift_del c.684 p.G229fs 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_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors TNIK HGNC ENSG00000154310 67 0 0.00 108 28 20.59 - - - TNRC6B 0 genome.wustl.edu 37 22 40661353 40661353 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 22 40661353 40661353 A - DEL TNRC6B ENST00000454349 human ensembl 69_37n +1 known frame_shift_del c.1119 p.N375fs 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 47 0 0.00 26 11 29.73 - - - TNRC6C 0 genome.wustl.edu 37 17 76067210 76067210 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 76067210 76067210 C T SNP TNRC6C ENST00000335749 human ensembl 69_37n +1 known silent c.2814 p.S938 1.000 superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_Argonaute_hook_dom,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TNRC6C HGNC ENSG00000078687 81 0 0.00 139 48 25.67 - - - TNXB 0 genome.wustl.edu 37 6 32010078 32010078 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 32010078 32010078 T C SNP TNXB ENST00000375247 human ensembl 69_37n -1 known missense c.12266 p.H4089R 0.000 pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 46 0 0.00 41 15 26.79 - - - TNXB 0 genome.wustl.edu 37 6 32064693 32064693 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 32064693 32064693 G A SNP TNXB ENST00000375247 human ensembl 69_37n -1 known missense c.937 p.R313W 0.771 pfam_EGF_extracell,smart_EGF-like pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 55 0 0.00 39 30 43.48 - - - TOMM40 0 genome.wustl.edu 37 19 45404306 45404306 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 45404306 45404306 T C SNP TOMM40 ENST00000252487 human ensembl 69_37n +1 known missense c.788 p.V263A 0.152 pfam_Porin_Euk pfam_Porin_Euk - no_errors TOMM40 HGNC ENSG00000130204 90 0 0.00 46 34 41.98 - - - TP53BP1 0 genome.wustl.edu 37 15 43739574 43739574 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 43739574 43739574 A G SNP TP53BP1 ENST00000411772 human ensembl 69_37n -1 known missense c.550 p.Y184H 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TP53BP1 HGNC ENSG00000067369 113 0 0.00 125 33 20.89 - - - TPR 0 genome.wustl.edu 37 1 186314830 186314830 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 186314830 186314830 T C SNP TPR ENST00000367478 human ensembl 69_37n -1 known splice_site c.3097-2 e24-2 0.998 - - - no_errors TPR HGNC ENSG00000047410 75 0 0.00 101 32 24.06 - - - TRDN 0 genome.wustl.edu 37 6 123759209 123759209 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 123759209 123759209 T - DEL TRDN ENST00000398178 human ensembl 69_37n -1 known frame_shift_del c.1050 p.E351fs 1.000 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 118 0 0.00 180 33 15.42 - - - TRIM16 0 genome.wustl.edu 37 17 15535965 15535965 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 15535965 15535965 A G SNP TRIM16 ENST00000336708 human ensembl 69_37n -1 known silent c.873 p.T291 0.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,prints_Butyrophylin - no_errors TRIM16 HGNC ENSG00000221926 100 0 0.00 78 50 39.06 - - - TRIM24 0 genome.wustl.edu 37 7 138210015 138210015 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 138210015 138210015 A T SNP TRIM24 ENST00000343526 human ensembl 69_37n +1 known missense c.794 p.N265I 1.000 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM24 HGNC ENSG00000122779 40 0 0.00 44 24 35.29 - - - TRIP10 0 genome.wustl.edu 37 19 6750563 6750563 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 6750563 6750563 A G SNP TRIP10 ENST00000313244 human ensembl 69_37n +1 known missense c.1576 p.I526V 0.999 superfamily_SH3_domain pfam_FCH,pfam_SH3_domain,superfamily_SH3_domain,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain - no_errors TRIP10 HGNC ENSG00000125733 77 0 0.00 73 25 25.51 - - - TRMT5 0 genome.wustl.edu 37 14 61442326 61442326 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 61442326 61442326 A G SNP TRMT5 ENST00000261249 human ensembl 69_37n -1 known silent c.1311 p.A437 0.034 NULL pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TRMT5 HGNC ENSG00000126814 106 0 0.00 78 60 43.48 - - - TRNT1 0 genome.wustl.edu 37 3 3189148 3189148 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 3189148 3189148 G A SNP TRNT1 ENST00000251607 human ensembl 69_37n +1 known missense c.817 p.A273T 1.000 NULL pfam_PolA_pol_head_dom - no_errors TRNT1 HGNC ENSG00000072756 30 0 0.00 48 18 27.27 - - - TRPA1 0 genome.wustl.edu 37 8 72967993 72967993 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 72967993 72967993 T C SNP TRPA1 ENST00000262209 human ensembl 69_37n -1 known missense c.1292 p.N431S 0.999 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 84 0 0.00 82 38 31.67 - - - TRPC1 0 genome.wustl.edu 37 3 142511768 142511768 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 142511768 142511768 T - DEL TRPC1 ENST00000476941 human ensembl 69_37n +1 known frame_shift_del c.1540 p.F515fs 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC1 HGNC ENSG00000144935 133 0 0.00 154 58 27.10 - - - TRPM6 0 genome.wustl.edu 37 9 77457135 77457135 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 9 77457135 77457135 C A SNP TRPM6 ENST00000451710 human ensembl 69_37n -1 known missense c.277 p.D93Y 1.000 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 192 0 0.00 181 62 25.51 - - - TSACC 0 genome.wustl.edu 37 1 156314450 156314450 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 156314450 156314450 T C SNP TSACC ENST00000368251 human ensembl 69_37n +1 known silent c.114 p.S38 0.255 NULL NULL - no_errors TSACC HGNC ENSG00000163467 86 0 0.00 127 23 15.33 - - - TSSC2 0 genome.wustl.edu 37 11 3423867 3423867 + RNA SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 3423867 3423867 G A SNP TSSC2 ENST00000529482 human ensembl 69_37n +1 known rna NULL NULL 0.700 - - - no_errors TSSC2 HGNC ENSG00000223756 49 0 0.00 28 5 15.15 - - - TTC38 0 genome.wustl.edu 37 22 46669876 46669876 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 22 46669876 46669876 C A SNP TTC38 ENST00000445282 human ensembl 69_37n +1 known missense c.275 p.A92D 0.985 NULL NULL - no_errors TTC38 HGNC ENSG00000075234 46 0 0.00 28 21 41.18 - - - TTN 0 genome.wustl.edu 37 2 179433320 179433320 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 179433320 179433320 T A SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.69835 p.T23279S 0.824 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 151 0 0.00 149 59 28.37 - - - TUBE1 0 genome.wustl.edu 37 6 112397206 112397206 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 112397206 112397206 T - DEL TUBE1 ENST00000368662 human ensembl 69_37n -1 known frame_shift_del c.746 p.K249fs 0.016 superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase 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_Epsilon_tubulin,prints_Tubulin - no_errors TUBE1 HGNC ENSG00000074935 151 0 0.00 150 79 34.05 - - - TULP3 0 genome.wustl.edu 37 12 3029956 3029956 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 3029956 3029956 A - DEL TULP3 ENST00000228245 human ensembl 69_37n +1 known frame_shift_del c.121 p.K42fs 1.000 prints_Tubby_N pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP3 HGNC ENSG00000078246 47 0 0.00 47 21 29.17 - - - TULP4 0 genome.wustl.edu 37 6 158915801 158915801 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 158915801 158915801 A G SNP TULP4 ENST00000367097 human ensembl 69_37n +1 known missense c.1793 p.Q598R 1.000 superfamily_Tubby_C-like pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 103 1 0.95 151 72 32.29 - - - TXLNG 0 genome.wustl.edu 37 X 16847877 16847877 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 16847877 16847877 A G SNP TXLNG ENST00000380122 human ensembl 69_37n +1 known missense c.848 p.Y283C 1.000 pfam_Taxilin pfam_Taxilin - no_errors TXLNG HGNC ENSG00000086712 68 0 0.00 90 32 26.23 - - - TYRO3 0 genome.wustl.edu 37 15 41854803 41854803 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 41854803 41854803 T C SNP TYRO3 ENST00000263798 human ensembl 69_37n +1 known missense c.467 p.F156S 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TYRO3 HGNC ENSG00000092445 54 0 0.00 39 43 51.81 - - - TYRO3 0 genome.wustl.edu 37 15 41854888 41854888 + Silent SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 41854888 41854888 T G SNP TYRO3 ENST00000263798 human ensembl 69_37n +1 known silent c.552 p.A184 0.130 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TYRO3 HGNC ENSG00000092445 38 0 0.00 53 6 10.17 - - - TYW1 0 genome.wustl.edu 37 7 66474575 66474575 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 66474575 66474575 C T SNP TYW1 ENST00000359626 human ensembl 69_37n +1 known silent c.279 p.F93 1.000 pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1 HGNC ENSG00000198874 167 0 0.00 245 86 25.98 - - - TYW1 0 genome.wustl.edu 37 7 66490011 66490011 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 66490011 66490011 T C SNP TYW1 ENST00000359626 human ensembl 69_37n +1 known splice_site c.984+2 e7+2 1.000 - - - no_errors TYW1 HGNC ENSG00000198874 166 0 0.00 238 83 25.86 - - - UBA52 0 genome.wustl.edu 37 19 18685757 18685757 + Missense_Mutation SNP A A T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 18685757 18685757 A T SNP UBA52 ENST00000430157 human ensembl 69_37n +1 known missense c.268 p.N90Y 1.000 pfam_Ribosomal_L40e pfam_Ubiquitin,pfam_Ribosomal_L40e,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr - no_errors UBA52 HGNC ENSG00000221983 41 0 0.00 54 12 18.18 - - - UBE2Q1 0 genome.wustl.edu 37 1 154528431 154528431 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 154528431 154528431 G T SNP UBE2Q1 ENST00000292211 human ensembl 69_37n -1 known missense c.337 p.P113T 1.000 superfamily_UBQ-conjugating_enzyme/RWD pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2Q1 HGNC ENSG00000160714 49 0 0.00 107 32 23.02 - - - UBR3 0 genome.wustl.edu 37 2 170753213 170753213 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 170753213 170753213 T C SNP UBR3 ENST00000272793 human ensembl 69_37n +1 known missense c.1433 p.M478T 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 72 0 0.00 85 22 20.56 - - - UBR3 0 genome.wustl.edu 37 2 170936530 170936530 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 170936530 170936530 A G SNP UBR3 ENST00000392632 human ensembl 69_37n +1 novel missense c.2591 p.Y864C 0.108 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region UBR3 HGNC ENSG00000144357 79 0 0.00 101 34 25.19 - - - UCK2 0 genome.wustl.edu 37 1 165875172 165875172 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 165875172 165875172 T C SNP UCK2 ENST00000367879 human ensembl 69_37n +1 known silent c.612 p.A204 0.461 pfam_PRK/URK,prints_Uridine_kinase,tigrfam_Uridine_kinase pfam_PRK/URK,pfam_Depp_CoAkinase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCK2 HGNC ENSG00000143179 118 0 0.00 116 40 25.48 - - - ULBP1 0 genome.wustl.edu 37 6 150285229 150285229 + Missense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 150285229 150285229 T A SNP ULBP1 ENST00000229708 human ensembl 69_37n +1 known missense c.44 p.L15H 0.001 NULL pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors ULBP1 HGNC ENSG00000111981 78 0 0.00 46 38 44.71 - - - UNC13D 0 genome.wustl.edu 37 17 73835919 73835919 + Splice_Site SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 73835919 73835919 C T SNP UNC13D ENST00000412096 human ensembl 69_37n -1 known splice_site c.1055+1 e12+1 1.000 - - - no_errors UNC13D HGNC ENSG00000092929 26 0 0.00 34 11 24.44 - - - UNC50 0 genome.wustl.edu 37 2 99227309 99227309 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 99227309 99227309 G T SNP UNC50 ENST00000409347 human ensembl 69_37n +1 known missense c.403 p.V135L 1.000 pfam_UNC-50 pfam_UNC-50 - no_errors UNC50 HGNC ENSG00000115446 260 0 0.00 310 87 21.91 - - - UNC5D 0 genome.wustl.edu 37 8 35624486 35624486 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 35624486 35624486 C T SNP UNC5D ENST00000404895 human ensembl 69_37n +1 known missense c.2380 p.R794C 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death,pfam_Immunoglobulin,superfamily_DEATH-like,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like - no_errors UNC5D HGNC ENSG00000156687 52 0 0.00 48 29 37.66 - - - UNC79 0 genome.wustl.edu 37 14 94089110 94089110 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 94089110 94089110 C T SNP UNC79 ENST00000553484 human ensembl 69_37n +1 known missense c.5597 p.A1866V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 45 0 0.00 66 12 15.38 - - - UPF3B 0 genome.wustl.edu 37 X 118971805 118971805 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 118971805 118971805 T G SNP UPF3B ENST00000276201 human ensembl 69_37n -1 known missense c.1217 p.K406T 0.924 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC ENSG00000125351 272 0 0.00 320 74 18.78 - - - URB1 0 genome.wustl.edu 37 21 33746080 33746080 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 21 33746080 33746080 A G SNP URB1 ENST00000382751 human ensembl 69_37n -1 known missense c.752 p.V251A 1.000 pfam_Npa1_N pfam_Npa1_N,superfamily_ARM-type_fold - no_errors URB1 HGNC ENSG00000142207 76 0 0.00 71 37 34.26 - - - USP13 0 genome.wustl.edu 37 3 179408081 179408081 + Frame_Shift_Del DEL T T - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 179408081 179408081 T - DEL USP13 ENST00000263966 human ensembl 69_37n +1 known frame_shift_del c.347 p.L118fs 1.000 pirsf_Ubiquitinyl_hydrolase pfam_Peptidase_C19,pfam_UBA/transl_elong_EF1B_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP13 HGNC ENSG00000058056 177 0 0.00 314 78 19.75 - - - USP13 0 genome.wustl.edu 37 3 179424844 179424844 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 179424844 179424844 T C SNP USP13 ENST00000263966 human ensembl 69_37n +1 known silent c.600 p.N200 0.905 pirsf_Ubiquitinyl_hydrolase pfam_Peptidase_C19,pfam_UBA/transl_elong_EF1B_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP13 HGNC ENSG00000058056 67 0 0.00 110 29 20.86 - - - USP22 0 genome.wustl.edu 37 17 20919169 20919169 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 20919169 20919169 A G SNP USP22 ENST00000261497 human ensembl 69_37n -1 known missense c.734 p.L245P 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP22 HGNC ENSG00000124422 75 0 0.00 24 21 45.65 - - - USP26 0 genome.wustl.edu 37 X 132160788 132160788 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 132160788 132160788 A - DEL USP26 ENST00000370832 human ensembl 69_37n -1 known frame_shift_del c.1461 p.F487fs 0.033 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP26 HGNC ENSG00000134588 21 0 0.00 36 11 23.40 - - - USP31 0 genome.wustl.edu 37 16 23117794 23117794 + Silent SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 23117794 23117794 A C SNP USP31 ENST00000219689 human ensembl 69_37n -1 known silent c.786 p.T262 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP31 HGNC ENSG00000103404 36 0 0.00 61 15 19.74 - - - USP33 0 genome.wustl.edu 37 1 78181537 78181537 + Missense_Mutation SNP G G T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 78181537 78181537 G T SNP USP33 ENST00000527390 human ensembl 69_37n -1 known missense c.278 p.P93H 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region USP33 HGNC ENSG00000077254 96 0 0.00 73 39 34.82 - - - USP34 0 genome.wustl.edu 37 2 61456055 61456055 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 61456055 61456055 T C SNP USP34 ENST00000411912 human ensembl 69_37n -1 novel missense c.553 p.I185V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region USP34 HGNC ENSG00000115464 76 0 0.00 79 48 37.80 - - - USP34 0 genome.wustl.edu 37 2 61575404 61575404 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 61575404 61575404 T C SNP USP34 ENST00000398571 human ensembl 69_37n -1 known missense c.1886 p.H629R 0.817 NULL pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP34 HGNC ENSG00000115464 77 0 0.00 74 17 18.68 - - - USP54 0 genome.wustl.edu 37 10 75289458 75289458 + Nonstop_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 75289458 75289458 A G SNP USP54 ENST00000424265 human ensembl 69_37n -1 known nonstop c.1432 p.*478R 0.840 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region USP54 HGNC ENSG00000166348 54 0 0.00 103 49 32.24 - - - USP6 0 genome.wustl.edu 37 17 5072193 5072193 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 5072193 5072193 T C SNP USP6 ENST00000250066 human ensembl 69_37n +1 known silent c.3360 p.H1120 0.942 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19 - no_errors USP6 HGNC ENSG00000129204 76 0 0.00 91 17 15.74 - - - UTP20 0 genome.wustl.edu 37 12 101680248 101680248 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 101680248 101680248 T C SNP UTP20 ENST00000261637 human ensembl 69_37n +1 known missense c.476 p.L159P 1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 143 0 0.00 112 59 34.30 - - - UTRN 0 genome.wustl.edu 37 6 144750006 144750006 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 144750006 144750006 T G SNP UTRN ENST00000367545 human ensembl 69_37n +1 known missense c.671 p.I224S 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pirsf_Dystrophin/utrophin,pfscan_CH-domain pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 138 0 0.00 123 51 29.31 - - - VSIG10 0 genome.wustl.edu 37 12 118506394 118506394 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 118506394 118506394 T G SNP VSIG10 ENST00000359236 human ensembl 69_37n -1 known missense c.1355 p.N452T 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors VSIG10 HGNC ENSG00000176834 135 0 0.00 87 67 43.51 - - - VWA3B 0 genome.wustl.edu 37 2 98928507 98928507 + Frame_Shift_Del DEL G G - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 98928507 98928507 G - DEL VWA3B ENST00000473149 human ensembl 69_37n +1 putative frame_shift_del c.1978 p.G662fs 0.004 NULL pfscan_VWF_A - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region VWA3B HGNC ENSG00000168658 18 0 0.00 19 6 24.00 - - - VWA8 0 genome.wustl.edu 37 13 42267042 42267042 + Nonsense_Mutation SNP T T A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 13 42267042 42267042 T A SNP VWA8 ENST00000379310 human ensembl 69_37n -1 known nonsense c.3631 p.K1211* 0.212 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 121 0 0.00 127 62 32.63 - - - WBP1 0 genome.wustl.edu 37 2 74687596 74687596 + Frame_Shift_Del DEL C C - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 74687596 74687596 C - DEL WBP1 ENST00000233615 human ensembl 69_37n +1 known frame_shift_del c.598 p.S202fs 0.022 NULL pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC ENSG00000239779 22 0 0.00 25 7 21.88 - - - WBP11P1 0 genome.wustl.edu 37 18 30092416 30092416 + RNA DEL C C - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 18 30092416 30092416 C - DEL WBP11P1 ENST00000567636 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors WBP11P1 HGNC ENSG00000260389 43 0 0.00 32 20 38.46 - - - WBP2 0 genome.wustl.edu 37 17 73851355 73851355 + Silent SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 73851355 73851355 C A SNP WBP2 ENST00000254806 human ensembl 69_37n -1 known silent c.24 p.S8 0.998 pfam_GRAM pfam_WW-domain-binding,pfam_GRAM - no_errors WBP2 HGNC ENSG00000132471 41 0 0.00 77 19 19.79 - - - WDR37 0 genome.wustl.edu 37 10 1149703 1149703 + Silent SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 10 1149703 1149703 T G SNP WDR37 ENST00000263150 human ensembl 69_37n +1 known silent c.888 p.A296 0.007 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR37 HGNC ENSG00000047056 19 0 0.00 23 8 25.81 - - - WDR66 0 genome.wustl.edu 37 12 122399920 122399920 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 122399920 122399920 C A SNP WDR66 ENST00000288912 human ensembl 69_37n +1 known missense c.2344 p.L782M 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR66 HGNC ENSG00000158023 50 0 0.00 35 30 46.15 - - - WDR87 0 genome.wustl.edu 37 19 38380339 38380339 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 38380339 38380339 T C SNP WDR87 ENST00000447313 human ensembl 69_37n -1 known silent c.3972 p.E1324 0.002 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 119 0 0.00 178 53 22.75 - - - WDR87 0 genome.wustl.edu 37 19 38386920 38386920 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 38386920 38386920 A G SNP WDR87 ENST00000447313 human ensembl 69_37n -1 known missense c.104 p.L35P 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR87 HGNC ENSG00000171804 80 0 0.00 96 25 20.66 - - - WFS1 0 genome.wustl.edu 37 4 6302783 6302783 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 6302783 6302783 A G SNP WFS1 ENST00000226760 human ensembl 69_37n +1 known missense c.1261 p.I421V 0.001 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 114 0 0.00 101 52 33.99 - - - WHAMMP2 0 genome.wustl.edu 37 15 28989965 28989965 + RNA SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 28989965 28989965 C A SNP WHAMMP2 ENST00000508764 human ensembl 69_37n +1 putative rna NULL NULL 0.476 - - - no_errors WHAMMP2 HGNC ENSG00000248334 39 0 0.00 31 13 29.55 - - - WNT5B 0 genome.wustl.edu 37 12 1740587 1740587 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 1740587 1740587 G A SNP WNT5B ENST00000310594 human ensembl 69_37n +1 known missense c.67 p.A23T 1.000 NULL pfam_Wnt,smart_Wnt,prints_Wnt - no_errors WNT5B HGNC ENSG00000111186 31 0 0.00 28 9 24.32 - - - XDH 0 genome.wustl.edu 37 2 31565141 31565141 + Missense_Mutation SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 31565141 31565141 A C SNP XDH ENST00000379416 human ensembl 69_37n -1 known missense c.3427 p.F1143V 0.999 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 63 0 0.00 58 50 45.87 - - - XPO1 0 genome.wustl.edu 37 2 61709572 61709572 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 61709572 61709572 A G SNP XPO1 ENST00000401558 human ensembl 69_37n -1 known missense c.2915 p.I972T 1.000 pfam_CRM1_C_dom,superfamily_ARM-type_fold pfam_CRM1_C_dom,pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO1 HGNC ENSG00000082898 100 0 0.00 134 66 33.00 - - - XPO6 0 genome.wustl.edu 37 16 28123194 28123194 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 28123194 28123194 T C SNP XPO6 ENST00000304658 human ensembl 69_37n -1 known missense c.2285 p.Y762C 1.000 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 92 0 0.00 171 25 12.76 - - - YAP1 0 genome.wustl.edu 37 11 102076658 102076658 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 102076658 102076658 G A SNP YAP1 ENST00000282441 human ensembl 69_37n +1 known silent c.837 p.V279 0.995 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_errors YAP1 HGNC ENSG00000137693 23 0 0.00 8 14 63.64 - - - YARS 0 genome.wustl.edu 37 1 33248059 33248059 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 33248059 33248059 T C SNP YARS ENST00000373477 human ensembl 69_37n -1 known missense c.988 p.T330A 0.747 NULL pfam_aa-tRNA-synth_Ic,pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold-like,pfscan_tRNA-bd_dom,prints_Tyr-tRNA-synth,tigrfam_Tyr-tRNA-synth - no_errors YARS HGNC ENSG00000134684 120 1 0.80 114 33 21.57 - - - YBEY 0 genome.wustl.edu 37 21 47706935 47706935 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 21 47706935 47706935 C T SNP YBEY ENST00000329319 human ensembl 69_37n +1 known silent c.108 p.D36 1.000 pfam_UPF0054_metalloprotease_prd,tigrfam_UPF0054_metalloprotease_prd pfam_UPF0054_metalloprotease_prd,tigrfam_UPF0054_metalloprotease_prd - no_errors YBEY HGNC ENSG00000182362 83 0 0.00 84 31 26.96 - - - YSK4 0 genome.wustl.edu 37 2 135779315 135779315 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 2 135779315 135779315 G A SNP YSK4 ENST00000375845 human ensembl 69_37n -1 known silent c.108 p.N36 0.996 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors YSK4 HGNC ENSG00000176601 118 0 0.00 141 55 28.06 - - - YY1 0 genome.wustl.edu 37 14 100742955 100742955 + Missense_Mutation SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 14 100742955 100742955 A C SNP YY1 ENST00000262238 human ensembl 69_37n +1 known missense c.1032 p.Q344H 0.577 smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_TF_Yin_yang,pfscan_Znf_C2H2 - no_errors YY1 HGNC ENSG00000100811 74 0 0.00 118 31 20.81 - - - YY1AP1 0 genome.wustl.edu 37 1 155631112 155631112 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 155631112 155631112 G A SNP YY1AP1 ENST00000368339 human ensembl 69_37n -1 known missense c.1396 p.P466S 0.996 NULL NULL - no_errors YY1AP1 HGNC ENSG00000163374 166 0 0.00 201 57 22.09 - - - ZBTB33 0 genome.wustl.edu 37 X 119388224 119388224 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 119388224 119388224 T C SNP ZBTB33 ENST00000326624 human ensembl 69_37n +1 known silent c.954 p.S318 0.925 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB33 HGNC ENSG00000177485 51 0 0.00 64 31 32.63 - - - ZBTB4 0 genome.wustl.edu 37 17 7370110 7370110 + Frame_Shift_Del DEL G G - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 7370110 7370110 G - DEL ZBTB4 ENST00000311403 human ensembl 69_37n -1 known frame_shift_del c.11 p.P4fs 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 ZBTB4 HGNC ENSG00000174282 14 0 0.00 7 7 50.00 - - - ZC3H11A 0 genome.wustl.edu 37 1 203786220 203786220 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 203786220 203786220 T C SNP ZC3H11A ENST00000332127 human ensembl 69_37n +1 known missense c.22 p.C8R 1.000 smart_Znf_CCCH smart_Znf_CCCH - no_errors ZC3H11A HGNC ENSG00000058673 75 0 0.00 123 42 25.45 - - - ZC3HAV1 0 genome.wustl.edu 37 7 138774443 138774443 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 138774443 138774443 T G SNP ZC3HAV1 ENST00000242351 human ensembl 69_37n -1 known missense c.371 p.H124P 0.075 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors ZC3HAV1 HGNC ENSG00000105939 106 0 0.00 172 29 14.43 - - - ZCCHC2 0 genome.wustl.edu 37 18 60241727 60241727 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 18 60241727 60241727 A G SNP ZCCHC2 ENST00000269499 human ensembl 69_37n +1 known missense c.2413 p.T805A 0.000 NULL pfam_Znf_CCHC,superfamily_Phox,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC2 HGNC ENSG00000141664 102 0 0.00 115 48 29.27 - - - ZCCHC8 0 genome.wustl.edu 37 12 122966592 122966592 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 122966592 122966592 T C SNP ZCCHC8 ENST00000336229 human ensembl 69_37n -1 known missense c.775 p.M259V 0.466 NULL pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 94 0 0.00 65 63 49.22 - - - ZCWPW1 0 genome.wustl.edu 37 7 99998783 99998783 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 99998783 99998783 T C SNP ZCWPW1 ENST00000398027 human ensembl 69_37n -1 known missense c.1801 p.S601G 0.000 NULL pfam_Znf_CW,pfam_PWWP,smart_PWWP,pfscan_PWWP,pfscan_Znf_CW - no_errors ZCWPW1 HGNC ENSG00000078487 43 0 0.00 100 22 18.03 - - - ZDHHC13 0 genome.wustl.edu 37 11 19197491 19197491 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 11 19197491 19197491 T C SNP ZDHHC13 ENST00000446113 human ensembl 69_37n +1 known missense c.1853 p.V618A 1.000 NULL pfam_Ankyrin_rpt,pfam_Znf_DHHC_palmitoyltrfase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC13 HGNC ENSG00000177054 99 0 0.00 111 51 31.10 - - - ZDHHC15 0 genome.wustl.edu 37 X 74644504 74644504 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 74644504 74644504 C T SNP ZDHHC15 ENST00000373367 human ensembl 69_37n -1 known missense c.719 p.R240K 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC15 HGNC ENSG00000102383 112 0 0.00 96 24 20.00 - - - ZFAT 0 genome.wustl.edu 37 8 135614769 135614769 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 135614769 135614769 C T SNP ZFAT ENST00000377838 human ensembl 69_37n -1 known missense c.1193 p.G398D 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 23 0 0.00 22 12 35.29 - - - ZFC3H1 0 genome.wustl.edu 37 12 72030786 72030786 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 72030786 72030786 T C SNP ZFC3H1 ENST00000378743 human ensembl 69_37n -1 known silent c.1779 p.E593 0.825 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 98 0 0.00 123 21 13.91 - - - ZFHX4 0 genome.wustl.edu 37 8 77764386 77764386 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 77764386 77764386 A G SNP ZFHX4 ENST00000521891 human ensembl 69_37n +1 known missense c.5229 p.I1743M 0.976 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 94 0 0.00 94 56 37.09 - - - ZFP106 0 genome.wustl.edu 37 15 42742957 42742957 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 15 42742957 42742957 A - DEL ZFP106 ENST00000263805 human ensembl 69_37n -1 known frame_shift_del c.1444 p.S482fs 0.139 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ZFP106 HGNC ENSG00000103994 165 0 0.00 179 53 22.36 - - - ZFP36 0 genome.wustl.edu 37 19 39898539 39898539 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 39898539 39898539 C A SNP ZFP36 ENST00000248673 human ensembl 69_37n +1 known missense c.181 p.L61I 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36 HGNC ENSG00000128016 9 0 0.00 3 7 70.00 - - - ZFP64 0 genome.wustl.edu 37 20 50769075 50769076 + Frame_Shift_Ins INS - - G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 50769075 50769076 - G INS ZFP64 ENST00000216923 human ensembl 69_37n -1 known frame_shift_ins c.1656_1655 p.Q553fs 0.000:0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 17 0 0.00 27 7 20.59 - - - ZFYVE20 0 genome.wustl.edu 37 3 15137516 15137516 + Missense_Mutation SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 15137516 15137516 A C SNP ZFYVE20 ENST00000253699 human ensembl 69_37n -1 known missense c.112 p.S38A 0.998 pfscan_Znf_C2H2 pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 203 1 0.49 236 90 27.61 - - - ZFYVE28 0 genome.wustl.edu 37 4 2306048 2306048 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 4 2306048 2306048 A G SNP ZFYVE28 ENST00000290974 human ensembl 69_37n -1 known silent c.2019 p.A673 0.001 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE28 HGNC ENSG00000159733 19 0 0.00 3 6 66.67 - - - ZMPSTE24 0 genome.wustl.edu 37 1 40735712 40735712 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 40735712 40735712 T C SNP ZMPSTE24 ENST00000372759 human ensembl 69_37n +1 known silent c.540 p.P180 0.999 NULL pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 190 0 0.00 251 74 22.70 - - - ZNF117 0 genome.wustl.edu 37 7 64439557 64439557 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 7 64439557 64439557 T C SNP ZNF117 ENST00000282869 human ensembl 69_37n -1 known missense c.392 p.Q131R 0.023 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF117 HGNC ENSG00000152926 103 0 0.00 154 46 23.00 - - - ZNF167 0 genome.wustl.edu 37 3 44612841 44612841 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 44612841 44612841 T C SNP ZNF167 ENST00000273320 human ensembl 69_37n +1 known missense c.2239 p.S747P 0.023 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF167 HGNC ENSG00000196345 80 0 0.00 56 42 42.86 - - - ZNF175 0 genome.wustl.edu 37 19 52090234 52090234 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 52090234 52090234 G A SNP ZNF175 ENST00000262259 human ensembl 69_37n +1 known missense c.650 p.S217N 0.006 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF175 HGNC ENSG00000105497 51 0 0.00 59 21 26.25 - - - ZNF185 0 genome.wustl.edu 37 X 152083321 152083321 + Silent SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 X 152083321 152083321 G A SNP ZNF185 ENST00000535861 human ensembl 69_37n +1 known silent c.102 p.T34 0.842 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 32 0 0.00 44 29 39.73 - - - ZNF217 0 genome.wustl.edu 37 20 52198048 52198048 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 20 52198048 52198048 C A SNP ZNF217 ENST00000302342 human ensembl 69_37n -1 known missense c.1318 p.G440C 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 35 0 0.00 34 5 12.82 - - - ZNF232 0 genome.wustl.edu 37 17 5013061 5013061 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 17 5013061 5013061 A G SNP ZNF232 ENST00000250076 human ensembl 69_37n -1 known silent c.126 p.G42 0.001 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF232 HGNC ENSG00000167840 156 0 0.00 89 51 36.17 - - - ZNF235 0 genome.wustl.edu 37 19 44792421 44792421 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 44792421 44792421 A G SNP ZNF235 ENST00000291182 human ensembl 69_37n -1 known silent c.1167 p.D389 0.068 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 ZNF235 HGNC ENSG00000159917 85 0 0.00 116 52 30.95 - - - ZNF34 0 genome.wustl.edu 37 8 145999963 145999963 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 8 145999963 145999963 T C SNP ZNF34 ENST00000343459 human ensembl 69_37n -1 known missense c.371 p.E124G 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF34 HGNC ENSG00000196378 36 0 0.00 54 12 18.18 - - - ZNF429 0 genome.wustl.edu 37 19 21720017 21720017 + Frame_Shift_Del DEL A A - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 21720017 21720017 A - DEL ZNF429 ENST00000358491 human ensembl 69_37n +1 known frame_shift_del c.1162 p.I390fs 0.374 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 ZNF429 HGNC ENSG00000197013 34 0 0.00 50 11 17.46 - - - ZNF469 0 genome.wustl.edu 37 16 88497459 88497459 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 88497459 88497459 G A SNP ZNF469 ENST00000437464 human ensembl 69_37n +1 known missense c.3497 p.R1166H 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 8 0 0.00 8 5 38.46 - - - ZNF493 0 genome.wustl.edu 37 19 21607594 21607594 + Silent SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 21607594 21607594 A G SNP ZNF493 ENST00000355504 human ensembl 69_37n +1 known silent c.1749 p.K583 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF493 HGNC ENSG00000196268 29 0 0.00 26 11 29.73 - - - ZNF530 0 genome.wustl.edu 37 19 58115681 58115681 + Missense_Mutation SNP T T G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 58115681 58115681 T G SNP ZNF530 ENST00000332854 human ensembl 69_37n +1 known missense c.67 p.F23V 0.940 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF530 HGNC ENSG00000183647 193 0 0.00 258 105 28.93 - - - ZNF573 0 genome.wustl.edu 37 19 38283282 38283282 + RNA SNP A A C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 38283282 38283282 A C SNP ZNF573 ENST00000480587 human ensembl 69_37n -1 known rna NULL NULL 0.952 - - - no_errors ZNF573 HGNC ENSG00000189144 62 0 0.00 79 23 22.55 - - - ZNF687 0 genome.wustl.edu 37 1 151262327 151262328 + Frame_Shift_Ins INS - - C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 151262327 151262328 - C INS ZNF687 ENST00000324048 human ensembl 69_37n +1 known frame_shift_ins c.2808_2809 p.R938fs 0.998:0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 38 0 0.00 41 7 14.58 - - - ZNF692 0 genome.wustl.edu 37 1 249151665 249151665 + Missense_Mutation SNP C C A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 1 249151665 249151665 C A SNP ZNF692 ENST00000451251 human ensembl 69_37n -1 known missense c.258 p.Q86H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF692 HGNC ENSG00000171163 26 0 0.00 37 7 15.91 - - - ZNF705A 0 genome.wustl.edu 37 12 8328540 8328540 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 12 8328540 8328540 T C SNP ZNF705A ENST00000359286 human ensembl 69_37n +1 known splice_site c.318+2 e4+2 0.607 - - - no_errors ZNF705A HGNC ENSG00000196946 312 0 0.00 363 129 26.22 - - - ZNF714 0 genome.wustl.edu 37 19 21300912 21300912 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 21300912 21300912 A G SNP ZNF714 ENST00000291770 human ensembl 69_37n +1 known missense c.1442 p.K481R 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF714 HGNC ENSG00000160352 83 0 0.00 86 34 28.33 - - - ZNF773 0 genome.wustl.edu 37 19 58018211 58018211 + Missense_Mutation SNP A A G TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 58018211 58018211 A G SNP ZNF773 ENST00000282292 human ensembl 69_37n +1 known missense c.748 p.S250G 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF773 HGNC ENSG00000152439 94 0 0.00 94 35 26.92 - - - ZNF780B 0 genome.wustl.edu 37 19 40540643 40540643 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 40540643 40540643 T C SNP ZNF780B ENST00000434248 human ensembl 69_37n -1 known missense c.2123 p.Y708C 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF780B HGNC ENSG00000128000 54 0 0.00 60 23 27.71 - - - ZNF785 0 genome.wustl.edu 37 16 30594328 30594328 + Silent SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 16 30594328 30594328 C T SNP ZNF785 ENST00000395216 human ensembl 69_37n -1 known silent c.771 p.A257 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF785 HGNC ENSG00000197162 56 0 0.00 39 21 35.00 - - - ZNF790 0 genome.wustl.edu 37 19 37309789 37309789 + Missense_Mutation SNP G G A TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 37309789 37309789 G A SNP ZNF790 ENST00000356725 human ensembl 69_37n -1 known missense c.1457 p.T486I 0.002 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF790 HGNC ENSG00000197863 77 0 0.00 77 29 27.36 - - - ZNF805 0 genome.wustl.edu 37 19 57765284 57765284 + Missense_Mutation SNP C C T TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 57765284 57765284 C T SNP ZNF805 ENST00000414468 human ensembl 69_37n +1 known missense c.1097 p.T366I 0.996 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 ZNF805 HGNC ENSG00000204524 86 0 0.00 102 34 25.00 - - - ZNF878 0 genome.wustl.edu 37 19 12154701 12154701 + Silent SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 12154701 12154701 T C SNP ZNF878 ENST00000547628 human ensembl 69_37n -1 novel silent c.1515 p.K505 0.999 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 ZNF878 HGNC ENSG00000257446 68 0 0.00 84 22 20.75 - - - ZPLD1 0 genome.wustl.edu 37 3 102187981 102187981 + Splice_Site SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 3 102187981 102187981 T C SNP ZPLD1 ENST00000306176 human ensembl 69_37n +1 known splice_site c.981+2 e8+2 1.000 - - - no_errors ZPLD1 HGNC ENSG00000170044 123 0 0.00 133 46 25.56 - - - ZSCAN22 0 genome.wustl.edu 37 19 58846472 58846472 + Frame_Shift_Del DEL C C - TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 19 58846472 58846472 C - DEL ZSCAN22 ENST00000329665 human ensembl 69_37n +1 known frame_shift_del c.304 p.P103fs 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN 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 ZSCAN22 HGNC ENSG00000182318 31 0 0.00 32 11 25.00 - - - ZSCAN23 0 genome.wustl.edu 37 6 28403763 28403763 + Missense_Mutation SNP T T C TCGA-D8-A1XK-01A-21D-A14K-09 TCGA-D8-A1XK-10A-01D-A14K-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8b704b7c-56d2-4816-8c47-055a794afb69 9f5b3aca-b473-43e0-9dc5-6339152822a5 6 28403763 28403763 T C SNP ZSCAN23 ENST00000289788 human ensembl 69_37n -1 known missense c.281 p.E94G 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN23 HGNC ENSG00000187987 95 0 0.00 110 13 10.48 - - -