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 ABCA3 0 genome.wustl.edu 37 16 2349496 2349496 + Missense_Mutation SNP C C G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 16 2349496 2349496 C G SNP ABCA3 ENST00000301732 human ensembl 69_37n -1 known missense c.1649 p.R550T 0.022 pfscan_ABC_transporter-like pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 33 0 0.00 54 9 14.29 - - - ACPT 0 genome.wustl.edu 37 19 51297066 51297066 + Silent SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 19 51297066 51297066 G C SNP ACPT ENST00000270593 human ensembl 69_37n +1 known silent c.771 p.L257 0.997 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors ACPT HGNC ENSG00000142513 32 0 0.00 56 11 16.42 - - - ADAM7 0 genome.wustl.edu 37 8 24348333 24348333 + Missense_Mutation SNP G G T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 8 24348333 24348333 G T SNP ADAM7 ENST00000175238 human ensembl 69_37n +1 known missense c.1288 p.D430Y 1.000 pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 26 0 0.00 39 9 18.75 - - - ANKRD18CP 0 genome.wustl.edu 37 9 99942717 99942717 + RNA SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 9 99942717 99942717 G A SNP ANKRD18CP ENST00000354752 human ensembl 69_37n -1 known rna NULL NULL 0.498 - - - no_errors ANKRD18CP HGNC ENSG00000159712 47 0 0.00 33 5 13.16 - - - ANKRD35 0 genome.wustl.edu 37 1 145557076 145557076 + Missense_Mutation SNP C C G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 1 145557076 145557076 C G SNP ANKRD35 ENST00000355594 human ensembl 69_37n +1 known missense c.288 p.I96M 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 ANKRD35 HGNC ENSG00000198483 24 0 0.00 23 6 20.69 - - - ANO4 0 genome.wustl.edu 37 12 101433799 101433799 + Missense_Mutation SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 12 101433799 101433799 G C SNP ANO4 ENST00000392977 human ensembl 69_37n +1 known missense c.964 p.E322Q 1.000 NULL pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 35 0 0.00 25 3 10.71 - - - APAF1 0 genome.wustl.edu 37 12 99059461 99059461 + Missense_Mutation SNP G G T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 12 99059461 99059461 G T SNP APAF1 ENST00000551964 human ensembl 69_37n +1 known missense c.1086 p.E362D 0.971 pfam_NB-ARC,pirsf_Apoptotic_pept-activating_1 pfam_WD40_repeat,pfam_NB-ARC,pfam_CARD,superfamily_WD40_repeat_dom,superfamily_DEATH-like,smart_WD40_repeat,pirsf_Apoptotic_pept-activating_1,pfscan_CARD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Disease_R,prints_G-protein_beta_WD-40_rep - no_errors APAF1 HGNC ENSG00000120868 24 0 0.00 18 3 14.29 - - - APOB 0 genome.wustl.edu 37 2 21224748 21224748 + Missense_Mutation SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 2 21224748 21224748 C T SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.13546 p.E4516K 0.001 pfam_ApoB100_C 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 30 0 0.00 30 4 11.76 - - - ARID1A 0 genome.wustl.edu 37 1 27057727 27057727 + Nonsense_Mutation SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 1 27057727 27057727 C T SNP ARID1A ENST00000324856 human ensembl 69_37n +1 known nonsense c.1435 p.Q479* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 61 0 0.00 79 12 13.19 - - - ATP7A 0 genome.wustl.edu 37 X 77245317 77245317 + Missense_Mutation SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 X 77245317 77245317 C T SNP ATP7A ENST00000341514 human ensembl 69_37n +1 known missense c.1199 p.S400L 1.000 pfam_HeavyMe-assoc_HMA,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,tigrfam_HMA_Cu_ion-bd pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7A HGNC ENSG00000165240 37 0 0.00 31 9 22.50 - - - ATP7B 0 genome.wustl.edu 37 13 52536020 52536020 + Missense_Mutation SNP C C G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 13 52536020 52536020 C G SNP ATP7B ENST00000242839 human ensembl 69_37n -1 known missense c.1899 p.Q633H 1.000 superfamily_HeavyMe-assoc_HMA pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd - no_errors ATP7B HGNC ENSG00000123191 82 0 0.00 76 9 10.59 - - - C11orf54 0 genome.wustl.edu 37 11 93493023 93493023 + Missense_Mutation SNP C C G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 11 93493023 93493023 C G SNP C11orf54 ENST00000331239 human ensembl 69_37n +1 known missense c.773 p.P258R 1.000 pfam_DUF1907 pfam_DUF1907 - no_errors C11orf54 HGNC ENSG00000182919 68 0 0.00 61 11 15.28 - - - C14orf38 0 genome.wustl.edu 37 14 60031809 60031809 + Missense_Mutation SNP C C G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 14 60031809 60031809 C G SNP C14orf38 ENST00000281581 human ensembl 69_37n -1 known missense c.676 p.E226Q 0.001 NULL superfamily_Prefoldin - no_errors C14orf38 HGNC ENSG00000151838 55 0 0.00 39 5 11.36 - - - C19orf44 0 genome.wustl.edu 37 19 16620688 16620688 + Missense_Mutation SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 19 16620688 16620688 C T SNP C19orf44 ENST00000221671 human ensembl 69_37n +1 known missense c.1528 p.P510S 0.000 NULL NULL - no_errors C19orf44 HGNC ENSG00000105072 33 0 0.00 38 7 15.56 - - - C5orf34 0 genome.wustl.edu 37 5 43492913 43492913 + Missense_Mutation SNP G G T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 5 43492913 43492913 G T SNP C5orf34 ENST00000306862 human ensembl 69_37n -1 known missense c.1394 p.A465D 1.000 NULL NULL - no_errors C5orf34 HGNC ENSG00000172244 39 0 0.00 31 4 11.43 - - - C9orf84 0 genome.wustl.edu 37 9 114454565 114454565 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 9 114454565 114454565 G A SNP C9orf84 ENST00000318737 human ensembl 69_37n -1 known missense c.3500 p.S1167F 0.003 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 31 0 0.00 20 6 23.08 - - - CAND2 0 genome.wustl.edu 37 3 12856719 12856719 + Missense_Mutation SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 3 12856719 12856719 G C SNP CAND2 ENST00000456430 human ensembl 69_37n +1 known missense c.1086 p.L362F 0.113 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 22 0 0.00 32 6 15.79 - - - CAND2 0 genome.wustl.edu 37 3 12856792 12856792 + Missense_Mutation SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 3 12856792 12856792 G C SNP CAND2 ENST00000456430 human ensembl 69_37n +1 known missense c.1159 p.E387Q 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 22 0 0.00 33 5 13.16 - - - CASZ1 0 genome.wustl.edu 37 1 10703221 10703221 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 1 10703221 10703221 G A SNP CASZ1 ENST00000377022 human ensembl 69_37n -1 known missense c.4016 p.S1339F 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 13 0 0.00 21 9 30.00 - - - CD300LF 0 genome.wustl.edu 37 17 72700705 72700705 + Silent SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 17 72700705 72700705 G C SNP CD300LF ENST00000326165 human ensembl 69_37n -1 known silent c.294 p.L98 0.550 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors CD300LF HGNC ENSG00000186074 74 0 0.00 80 14 14.89 - - - CDC42BPB 0 genome.wustl.edu 37 14 103405981 103405981 + Missense_Mutation SNP C C G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 14 103405981 103405981 C G SNP CDC42BPB ENST00000361246 human ensembl 69_37n -1 known missense c.4793 p.G1598A 1.000 smart_PAK_box_Rho-bd pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,prints_DAG/PE-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom - no_errors CDC42BPB HGNC ENSG00000198752 55 0 0.00 60 13 17.81 - - - CDC5L 0 genome.wustl.edu 37 6 44371709 44371709 + Missense_Mutation SNP C C G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 6 44371709 44371709 C G SNP CDC5L ENST00000371477 human ensembl 69_37n +1 known missense c.703 p.L235V 0.980 NULL pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 26 0 0.00 26 6 18.75 - - - CDH1 0 genome.wustl.edu 37 16 68835596 68835596 + Nonsense_Mutation SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 16 68835596 68835596 C T SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known nonsense c.187 p.R63* 0.175 pfam_Cadherin_pro_dom,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 31 0 0.00 43 6 12.24 - - - CELF1 0 genome.wustl.edu 37 11 47494730 47494730 + Nonsense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 11 47494730 47494730 G A SNP CELF1 ENST00000532048 human ensembl 69_37n -1 known nonsense c.1321 p.Q441* 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF1 HGNC ENSG00000149187 36 0 0.00 28 6 17.65 - - - CHD4 0 genome.wustl.edu 37 12 6701124 6701124 + Missense_Mutation SNP C C G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 12 6701124 6701124 C G SNP CHD4 ENST00000309577 human ensembl 69_37n -1 known missense c.3048 p.K1016N 1.000 pfam_SNF2_N,pfam_HDA_complex_subunit-2/3 pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 18 0 0.00 21 12 36.36 - - - CHKA 0 genome.wustl.edu 37 11 67821388 67821388 + RNA SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 11 67821388 67821388 G A SNP CHKA ENST00000533728 human ensembl 69_37n -1 putative rna NULL NULL 0.018 - - - no_errors CHKA HGNC ENSG00000110721 25 0 0.00 23 5 17.86 - - - CLEC7A 0 genome.wustl.edu 37 12 10277955 10277955 + Missense_Mutation SNP T T G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 12 10277955 10277955 T G SNP CLEC7A ENST00000304084 human ensembl 69_37n -1 known missense c.433 p.K145Q 0.212 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,prints_AntifreezeII,pfscan_C-type_lectin - no_errors CLEC7A HGNC ENSG00000172243 22 0 0.00 30 7 18.92 - - - CNTRL 0 genome.wustl.edu 37 9 123912453 123912453 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 9 123912453 123912453 G A SNP CNTRL ENST00000238341 human ensembl 69_37n +1 known missense c.3655 p.D1219N 0.999 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 35 0 0.00 19 5 20.83 - - - COL22A1 0 genome.wustl.edu 37 8 139712383 139712383 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 8 139712383 139712383 G A SNP COL22A1 ENST00000303045 human ensembl 69_37n -1 known missense c.2564 p.S855F 0.902 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 22 0 0.00 27 8 22.86 - - - COL6A1 0 genome.wustl.edu 37 21 47412129 47412129 + Missense_Mutation SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 21 47412129 47412129 G C SNP COL6A1 ENST00000361866 human ensembl 69_37n +1 known missense c.1234 p.E412Q 1.000 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A1 HGNC ENSG00000142156 43 0 0.00 71 8 10.13 - - - CRLF3 0 genome.wustl.edu 37 17 29130962 29130962 + Silent SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 17 29130962 29130962 G C SNP CRLF3 ENST00000324238 human ensembl 69_37n -1 known silent c.294 p.L98 1.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CRLF3 HGNC ENSG00000176390 70 0 0.00 64 10 13.51 - - - DNAJC14 0 genome.wustl.edu 37 12 56221820 56221820 + Missense_Mutation SNP C C A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 12 56221820 56221820 C A SNP DNAJC14 ENST00000317269 human ensembl 69_37n -1 known missense c.623 p.R208L 0.985 NULL pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ - no_errors DNAJC14 HGNC ENSG00000135392 26 0 0.00 30 6 16.67 - - - DYNC1I1 0 genome.wustl.edu 37 7 95661999 95661999 + Missense_Mutation SNP T T A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 7 95661999 95661999 T A SNP DYNC1I1 ENST00000324972 human ensembl 69_37n +1 known missense c.1188 p.N396K 1.000 pfam_WD40_repeat,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 67 0 0.00 81 13 13.83 - - - EIF3A 0 genome.wustl.edu 37 10 120810767 120810767 + Missense_Mutation SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 10 120810767 120810767 C T SNP EIF3A ENST00000369144 human ensembl 69_37n -1 known missense c.2263 p.E755K 1.000 NULL pfam_PCI_dom,smart_PCI_dom - no_errors EIF3A HGNC ENSG00000107581 29 0 0.00 32 4 11.11 - - - EMR2 0 genome.wustl.edu 37 19 14875317 14875317 + Missense_Mutation SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 19 14875317 14875317 C T SNP EMR2 ENST00000315576 human ensembl 69_37n -1 known missense c.1012 p.E338K 0.355 prints_GPCR_2_CD97 pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EGF-like_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_GPS_dom,prints_GPCR_2_CD97,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors EMR2 HGNC ENSG00000127507 34 0 0.00 42 6 12.50 - - - EPC1 0 genome.wustl.edu 37 10 32561961 32561961 + Missense_Mutation SNP C C A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 10 32561961 32561961 C A SNP EPC1 ENST00000263062 human ensembl 69_37n -1 known missense c.1913 p.G638V 1.000 pfam_Enhancer_polycomb_C pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC1 HGNC ENSG00000120616 62 0 0.00 69 9 11.54 - - - FAM21C 0 genome.wustl.edu 37 10 46238914 46238914 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 10 46238914 46238914 G A SNP FAM21C ENST00000374362 human ensembl 69_37n +1 known missense c.605 p.G202E 1.000 NULL NULL - no_errors FAM21C HGNC ENSG00000172661 205 0 0.00 233 31 11.74 - - - FGF18 0 genome.wustl.edu 37 5 170876186 170876186 + Missense_Mutation SNP C C G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 5 170876186 170876186 C G SNP FGF18 ENST00000274625 human ensembl 69_37n +1 known missense c.286 p.Q96E 1.000 pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_IL1_HBGF - no_errors FGF18 HGNC ENSG00000156427 36 0 0.00 43 5 10.42 - - - FLG 0 genome.wustl.edu 37 1 152283647 152283647 + Missense_Mutation SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 1 152283647 152283647 C T SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.3715 p.E1239K 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 142 0 0.00 134 27 16.77 - - - FLG 0 genome.wustl.edu 37 1 152287821 152287821 + Missense_Mutation SNP C C G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 1 152287821 152287821 C G SNP FLG ENST00000368799 human ensembl 69_37n -1 known missense c.112 p.E38Q 1.000 pfam_S100_Ca-bd_sub pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 75 0 0.00 63 14 18.18 - - - FLT4 0 genome.wustl.edu 37 5 180056359 180056359 + Silent SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 5 180056359 180056359 C T SNP FLT4 ENST00000261937 human ensembl 69_37n -1 known silent c.885 p.L295 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC ENSG00000037280 36 0 0.00 48 6 11.11 - - - FMN2 0 genome.wustl.edu 37 1 240370934 240370934 + Missense_Mutation SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 1 240370934 240370934 G C SNP FMN2 ENST00000319653 human ensembl 69_37n +1 known missense c.2822 p.G941A 0.001 pfam_Formin_homology_1,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 13 0 0.00 14 6 30.00 - - - GAL3ST1 0 genome.wustl.edu 37 22 30951295 30951295 + Missense_Mutation SNP T T G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 22 30951295 30951295 T G SNP GAL3ST1 ENST00000338911 human ensembl 69_37n -1 known missense c.917 p.H306P 0.539 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase - no_errors GAL3ST1 HGNC ENSG00000128242 78 0 0.00 29 16 35.56 - - - GANAB 0 genome.wustl.edu 37 11 62406907 62406907 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 11 62406907 62406907 G A SNP GANAB ENST00000346178 human ensembl 69_37n -1 known missense c.176 p.P59L 0.998 superfamily_Glyco_hydro-type_carb-bd pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd - no_errors GANAB HGNC ENSG00000089597 28 0 0.00 30 7 18.92 - - - GLRA4 0 genome.wustl.edu 37 X 102962273 102962273 + Silent SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 X 102962273 102962273 C T SNP GLRA4 ENST00000372617 human ensembl 69_37n -1 known silent c.1253 p.*418 0.995 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA4 HGNC ENSG00000188828 58 0 0.00 65 8 10.96 - - - GREB1L 0 genome.wustl.edu 37 18 19088440 19088440 + Missense_Mutation SNP C C G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 18 19088440 19088440 C G SNP GREB1L ENST00000424526 human ensembl 69_37n +1 known missense c.4623 p.I1541M 1.000 NULL NULL - no_errors GREB1L HGNC ENSG00000141449 35 0 0.00 48 6 11.11 - - - ICAM1 0 genome.wustl.edu 37 19 10394723 10394723 + Missense_Mutation SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 19 10394723 10394723 C T SNP ICAM1 ENST00000264832 human ensembl 69_37n +1 known missense c.652 p.P218S 0.000 NULL pfam_ICAM_N,smart_Ig_sub,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM1 HGNC ENSG00000090339 34 0 0.00 38 8 17.39 - - - KIAA0319 0 genome.wustl.edu 37 6 24559335 24559335 + Silent SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 6 24559335 24559335 G C SNP KIAA0319 ENST00000378214 human ensembl 69_37n -1 known silent c.2640 p.L880 0.997 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 34 0 0.00 53 10 15.87 - - - KIAA1644 0 genome.wustl.edu 37 22 44681447 44681447 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 22 44681447 44681447 G A SNP KIAA1644 ENST00000381176 human ensembl 69_37n -1 putative missense c.460 p.R154W 0.998 NULL NULL - no_errors KIAA1644 HGNC ENSG00000138944 30 0 0.00 25 5 16.67 - - - KIF1B 0 genome.wustl.edu 37 1 10318573 10318573 + Missense_Mutation SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 1 10318573 10318573 C T SNP KIF1B ENST00000263934 human ensembl 69_37n +1 known missense c.206 p.S69F 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 38 0 0.00 36 11 23.40 - - - KRT83 0 genome.wustl.edu 37 12 52710344 52710344 + Missense_Mutation SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 12 52710344 52710344 C T SNP KRT83 ENST00000293670 human ensembl 69_37n -1 known missense c.949 p.G317R 0.987 pfam_F,superfamily_Prefoldin,prints_Keratin_II pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT83 HGNC ENSG00000170523 69 0 0.00 71 10 12.35 - - - LCN2 0 genome.wustl.edu 37 9 130912858 130912858 + RNA SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 9 130912858 130912858 G A SNP LCN2 ENST00000487719 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors LCN2 HGNC ENSG00000148346 26 0 0.00 25 5 16.67 - - - LTN1 0 genome.wustl.edu 37 21 30365148 30365148 + Missense_Mutation SNP C C G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 21 30365148 30365148 C G SNP LTN1 ENST00000389194 human ensembl 69_37n -1 putative missense c.117 p.Q39H 0.002 NULL pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 39 0 0.00 52 13 20.00 - - - LYPD6B 0 genome.wustl.edu 37 2 150017281 150017281 + Silent SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 2 150017281 150017281 G A SNP LYPD6B ENST00000280115 human ensembl 69_37n +1 known silent c.9 p.L3 0.454 NULL NULL - no_errors LYPD6B HGNC ENSG00000150556 30 0 0.00 44 5 10.20 - - - LYST 0 genome.wustl.edu 37 1 235922444 235922444 + Nonsense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 1 235922444 235922444 G A SNP LYST ENST00000389793 human ensembl 69_37n -1 known nonsense c.6709 p.Q2237* 1.000 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 24 0 0.00 20 3 13.04 - - - MAP3K3 0 genome.wustl.edu 37 17 61771096 61771096 + Missense_Mutation SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 17 61771096 61771096 G C SNP MAP3K3 ENST00000361357 human ensembl 69_37n +1 known missense c.1933 p.E645Q 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,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 MAP3K3 HGNC ENSG00000198909 63 0 0.00 55 12 17.91 - - - MED24 0 genome.wustl.edu 37 17 38189363 38189363 + Silent SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 17 38189363 38189363 C T SNP MED24 ENST00000394128 human ensembl 69_37n -1 known silent c.768 p.L256 1.000 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 25 0 0.00 35 10 22.22 - - - MGAM 0 genome.wustl.edu 37 7 141793306 141793306 + Silent SNP T T C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 7 141793306 141793306 T C SNP MGAM ENST00000475668 human ensembl 69_37n +1 putative silent c.7131 p.N2377 0.140 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 30 0 0.00 36 4 10.00 - - - MTPAP 0 genome.wustl.edu 37 10 30653864 30653864 + Silent SNP A A C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 10 30653864 30653864 A C SNP MTPAP ENST00000358107 human ensembl 69_37n -1 known silent c.318 p.G106 0.011 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 50 0 0.00 22 25 52.08 - - - MUC16 0 genome.wustl.edu 37 19 9059907 9059907 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 19 9059907 9059907 G A SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.27539 p.S9180L 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 46 0 0.00 45 8 15.09 - - - MYH2 0 genome.wustl.edu 37 17 10450932 10450932 + Silent SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 17 10450932 10450932 G A SNP MYH2 ENST00000245503 human ensembl 69_37n -1 known silent c.208 p.L70 0.025 pfam_Myosin_N pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 62 0 0.00 42 6 12.50 - - - NF1 0 genome.wustl.edu 37 17 29528088 29528088 + Nonsense_Mutation SNP A A T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 17 29528088 29528088 A T SNP NF1 ENST00000358273 human ensembl 69_37n +1 known nonsense c.1096 p.R366* 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 63 0 0.00 44 5 10.20 - - - NOTO 0 genome.wustl.edu 37 2 73429814 73429814 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 2 73429814 73429814 G A SNP NOTO ENST00000398468 human ensembl 69_37n +1 known missense c.20 p.R7Q 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors NOTO HGNC ENSG00000214513 23 0 0.00 18 7 28.00 - - - NUP85 0 genome.wustl.edu 37 17 73204681 73204681 + Silent SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 17 73204681 73204681 G A SNP NUP85 ENST00000245544 human ensembl 69_37n +1 known silent c.93 p.E31 1.000 NULL pfam_Nucleoporin_Nup85 - no_errors NUP85 HGNC ENSG00000125450 55 0 0.00 46 8 14.81 - - - OR1S2 0 genome.wustl.edu 37 11 57971579 57971579 + Silent SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 11 57971579 57971579 G A SNP OR1S2 ENST00000302592 human ensembl 69_37n -1 known silent c.75 p.F25 0.996 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR1S2 HGNC ENSG00000197887 77 0 0.00 72 9 11.11 - - - OR52E4 0 genome.wustl.edu 37 11 5906158 5906158 + Silent SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 11 5906158 5906158 G C SNP OR52E4 ENST00000316987 human ensembl 69_37n +1 known silent c.636 p.V212 0.016 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,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 OR52E4 HGNC ENSG00000180974 54 0 0.00 67 8 10.67 - - - PCDHGC5 0 genome.wustl.edu 37 5 140871163 140871163 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 5 140871163 140871163 G A SNP PCDHGC5 ENST00000252087 human ensembl 69_37n +1 known missense c.2356 p.D786N 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC5 HGNC ENSG00000240764 37 0 0.00 55 10 15.38 - - - PCSK5 0 genome.wustl.edu 37 9 78973680 78973680 + Missense_Mutation SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 9 78973680 78973680 G C SNP PCSK5 ENST00000545128 human ensembl 69_37n +1 known missense c.5425 p.E1809Q 1.000 NULL pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EGF-like,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 39 0 0.00 37 10 21.28 - - - PEX11A 0 genome.wustl.edu 37 15 90233925 90233925 + RNA SNP C C G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 15 90233925 90233925 C G SNP PEX11A ENST00000557982 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PEX11A HGNC ENSG00000166821 36 0 0.00 48 6 11.11 - - - PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 44 0 0.00 48 7 12.73 - - - PPFIA2 0 genome.wustl.edu 37 12 81762938 81762938 + Missense_Mutation SNP C C G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 12 81762938 81762938 C G SNP PPFIA2 ENST00000549396 human ensembl 69_37n -1 known missense c.1302 p.M434I 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 36 0 0.00 47 6 11.32 - - - PRC1 0 genome.wustl.edu 37 15 91524812 91524812 + Missense_Mutation SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 15 91524812 91524812 C T SNP PRC1 ENST00000394249 human ensembl 69_37n -1 known missense c.589 p.E197K 1.000 pfam_Microtubule-assoc_MAP65_ASE1 pfam_Microtubule-assoc_MAP65_ASE1 - no_errors PRC1 HGNC ENSG00000198901 53 0 0.00 53 6 10.17 - - - PTH1R 0 genome.wustl.edu 37 3 46939404 46939404 + Missense_Mutation SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 3 46939404 46939404 G C SNP PTH1R ENST00000313049 human ensembl 69_37n +1 known missense c.373 p.E125Q 0.958 pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_parathyroid_rcpt - no_errors PTH1R HGNC ENSG00000160801 27 0 0.00 42 6 12.50 - - - RAB7L1 0 genome.wustl.edu 37 1 205739862 205739862 + Silent SNP T T G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 1 205739862 205739862 T G SNP RAB7L1 ENST00000235932 human ensembl 69_37n -1 known silent c.499 p.R167 1.000 pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB7L1 HGNC ENSG00000117280 35 0 0.00 55 10 15.38 - - - RASAL3 0 genome.wustl.edu 37 19 15563552 15563552 + Silent SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 19 15563552 15563552 C T SNP RASAL3 ENST00000343625 human ensembl 69_37n -1 known silent c.2745 p.L915 0.248 NULL pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGAP,pfscan_RasGAP - no_errors RASAL3 HGNC ENSG00000105122 31 0 0.00 48 13 21.31 - - - RAVER2 0 genome.wustl.edu 37 1 65210970 65210970 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 1 65210970 65210970 G A SNP RAVER2 ENST00000294428 human ensembl 69_37n +1 known missense c.115 p.E39K 0.002 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER2 HGNC ENSG00000162437 13 0 0.00 15 4 21.05 - - - RBMS3 0 genome.wustl.edu 37 3 29529937 29529937 + Missense_Mutation SNP G G T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 3 29529937 29529937 G T SNP RBMS3 ENST00000383767 human ensembl 69_37n +1 known missense c.254 p.G85V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,prints_Hud_Sxl_RNA,pfscan_RRM_dom - no_errors RBMS3 HGNC ENSG00000144642 27 0 0.00 24 6 20.00 - - - RTL1 0 genome.wustl.edu 37 14 101348427 101348427 + Missense_Mutation SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 14 101348427 101348427 C T SNP RTL1 ENST00000534062 human ensembl 69_37n -1 known missense c.2699 p.R900K 0.000 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC ENSG00000254656 22 0 0.00 53 9 14.52 - - - SCMH1 0 genome.wustl.edu 37 1 41540970 41540970 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 1 41540970 41540970 G A SNP SCMH1 ENST00000326197 human ensembl 69_37n -1 known missense c.869 p.S290F 1.000 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors SCMH1 HGNC ENSG00000010803 79 0 0.00 87 11 11.22 - - - SETD1B 0 genome.wustl.edu 37 12 122255275 122255275 + Splice_Site SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 12 122255275 122255275 G C SNP SETD1B ENST00000267197 human ensembl 69_37n +1 known splice_site c.2978-1 e8-1 1.000 - - - no_errors SETD1B HGNC ENSG00000139718 18 0 0.00 15 4 21.05 - - - SHARPIN 0 genome.wustl.edu 37 8 145154965 145154965 + Missense_Mutation SNP C C G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 8 145154965 145154965 C G SNP SHARPIN ENST00000398712 human ensembl 69_37n -1 known missense c.384 p.K128N 0.012 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors SHARPIN HGNC ENSG00000179526 42 0 0.00 45 9 16.67 - - - SLC36A1 0 genome.wustl.edu 37 5 150867671 150867671 + Missense_Mutation SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 5 150867671 150867671 G C SNP SLC36A1 ENST00000243389 human ensembl 69_37n +1 known missense c.1287 p.M429I 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC36A1 HGNC ENSG00000123643 49 0 0.00 62 14 18.42 - - - SLCO5A1 0 genome.wustl.edu 37 8 70588895 70588895 + Missense_Mutation SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 8 70588895 70588895 C T SNP SLCO5A1 ENST00000260126 human ensembl 69_37n -1 known missense c.2038 p.E680K 1.000 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 40 0 0.00 19 5 20.83 - - - SLMAP 0 genome.wustl.edu 37 3 57817203 57817203 + Missense_Mutation SNP C C G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 3 57817203 57817203 C G SNP SLMAP ENST00000428312 human ensembl 69_37n +1 known missense c.292 p.L98V 1.000 pfam_FHA_dom,superfamily_SMAD_FHA_domain pfam_FHA_dom,pfam_PFD_beta-like,superfamily_SMAD_FHA_domain,superfamily_Prefoldin,smart_FHA_dom,pfscan_FHA_dom - no_errors SLMAP HGNC ENSG00000163681 55 0 0.00 51 10 16.39 - - - SMARCA2 0 genome.wustl.edu 37 9 2039815 2039815 + Silent SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 9 2039815 2039815 G A SNP SMARCA2 ENST00000349721 human ensembl 69_37n +1 known silent c.705 p.Q235 0.004 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 26 0 0.00 22 5 18.52 - - - SMPD4 0 genome.wustl.edu 37 2 130915062 130915062 + RNA SNP T T C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 2 130915062 130915062 T C SNP SMPD4 ENST00000455548 human ensembl 69_37n -1 putative rna NULL NULL 0.000 - - - no_errors SMPD4 HGNC ENSG00000136699 44 0 0.00 43 7 14.00 - - - SMUG1 0 genome.wustl.edu 37 12 54576104 54576104 + Missense_Mutation SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 12 54576104 54576104 C T SNP SMUG1 ENST00000337581 human ensembl 69_37n -1 known missense c.589 p.A197T 0.992 pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like pfam_Uracil-DNA_glycosylase-like,superfamily_Uracil-DNA_glycosylase-like - no_errors SMUG1 HGNC ENSG00000123415 27 0 0.00 32 8 20.00 - - - SPARCL1 0 genome.wustl.edu 37 4 88415285 88415285 + Missense_Mutation SNP C C G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 4 88415285 88415285 C G SNP SPARCL1 ENST00000282470 human ensembl 69_37n -1 known missense c.667 p.E223Q 0.005 pirsf_SPARC-like_p1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Prot_inh_Kazal,pfam_Kazal-type_dom,pfam_Follistatin/Osteonectin_EGF,smart_Fol_N,smart_Prot_inh_Kazal,pirsf_SPARC-like_p1,pfscan_EF_HAND_2 - no_errors SPARCL1 HGNC ENSG00000152583 61 0 0.00 47 8 14.55 - - - SPOP 0 genome.wustl.edu 37 17 47696471 47696471 + Splice_Site SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 17 47696471 47696471 C T SNP SPOP ENST00000347630 human ensembl 69_37n -1 known splice_site c.353-1 e4-1 1.000 - - - no_errors SPOP HGNC ENSG00000121067 25 0 0.00 16 4 20.00 - - - SPTA1 0 genome.wustl.edu 37 1 158592794 158592794 + Missense_Mutation SNP C C G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 1 158592794 158592794 C G SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known missense c.6099 p.E2033D 1.000 pfam_Spectrin_repeat 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 47 0 0.00 62 10 13.89 - - - SRPX2 0 genome.wustl.edu 37 X 99921786 99921786 + Missense_Mutation SNP G G T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 X 99921786 99921786 G T SNP SRPX2 ENST00000373004 human ensembl 69_37n +1 known missense c.817 p.G273C 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX2 HGNC ENSG00000102359 37 0 0.00 32 6 15.79 - - - SSH2 0 genome.wustl.edu 37 17 28088351 28088351 + RNA SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 17 28088351 28088351 G A SNP SSH2 ENST00000580327 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SSH2 HGNC ENSG00000141298 24 0 0.00 17 6 26.09 - - - SYCP1 0 genome.wustl.edu 37 1 115537679 115537679 + RNA SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 1 115537679 115537679 G A SNP SYCP1 ENST00000477590 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SYCP1 HGNC ENSG00000198765 37 0 0.00 33 5 13.16 - - - SYMPK 0 genome.wustl.edu 37 19 46347318 46347318 + Missense_Mutation SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 19 46347318 46347318 C T SNP SYMPK ENST00000245934 human ensembl 69_37n -1 known missense c.817 p.E273K 0.998 pfam_DUF3453,superfamily_ARM-type_fold pfam_DUF3453,pfam_Symplekin_C,superfamily_ARM-type_fold - no_errors SYMPK HGNC ENSG00000125755 48 0 0.00 43 8 15.69 - - - TCP11L1 0 genome.wustl.edu 37 11 33102667 33102667 + Missense_Mutation SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 11 33102667 33102667 G C SNP TCP11L1 ENST00000527661 human ensembl 69_37n +1 known missense c.1514 p.R505T 0.000 NULL pfam_Tcp11 - no_errors TCP11L1 HGNC ENSG00000176148 47 0 0.00 40 8 16.67 - - - TFB2M 0 genome.wustl.edu 37 1 246729197 246729197 + Missense_Mutation SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 1 246729197 246729197 C T SNP TFB2M ENST00000366514 human ensembl 69_37n -1 known missense c.244 p.E82K 0.000 smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,pirsf_Mt_di-Me-Ado_Trfase_2_prcur - no_errors TFB2M HGNC ENSG00000162851 53 0 0.00 42 5 10.64 - - - TFE3 0 genome.wustl.edu 37 X 48887846 48887846 + Silent SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 X 48887846 48887846 G A SNP TFE3 ENST00000315869 human ensembl 69_37n -1 known silent c.1551 p.F517 0.993 pfam_bHLH_ZIP_TF_MiT/TFE pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors TFE3 HGNC ENSG00000068323 35 0 0.00 51 9 15.00 - - - THAP11 0 genome.wustl.edu 37 16 67876823 67876824 + In_Frame_Ins INS - - CAG TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 16 67876823 67876824 - CAG INS THAP11 ENST00000303596 human ensembl 69_37n +1 known in_frame_ins c.366_367 p.126in_frame_insQ 0.001:0.009 NULL pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP11 HGNC ENSG00000168286 16 0 0.00 18 8 30.77 - - - TMEM33 0 genome.wustl.edu 37 4 41946820 41946820 + Nonsense_Mutation SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 4 41946820 41946820 C T SNP TMEM33 ENST00000513558 human ensembl 69_37n +1 putative nonsense c.208 p.Q70* 1.000 pfam_UPF0121 pfam_UPF0121 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TMEM33 HGNC ENSG00000109133 34 0 0.00 36 8 18.18 - - - TMEM33 0 genome.wustl.edu 37 4 41946834 41946834 + Missense_Mutation SNP C C A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 4 41946834 41946834 C A SNP TMEM33 ENST00000325094 human ensembl 69_37n +1 known missense c.421 p.L141M 1.000 pfam_UPF0121 pfam_UPF0121 - no_errors TMEM33 HGNC ENSG00000109133 33 0 0.00 39 8 17.02 - - - TNKS 0 genome.wustl.edu 37 8 9413850 9413850 + Missense_Mutation SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 8 9413850 9413850 C T SNP TNKS ENST00000310430 human ensembl 69_37n +1 known missense c.401 p.S134F 1.000 NULL pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors TNKS HGNC ENSG00000173273 70 0 0.00 75 9 10.71 - - - TRIM28 0 genome.wustl.edu 37 19 59057200 59057200 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 19 59057200 59057200 G A SNP TRIM28 ENST00000253024 human ensembl 69_37n +1 known missense c.523 p.E175K 1.000 pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors TRIM28 HGNC ENSG00000130726 59 0 0.00 81 19 19.00 - - - TSN 0 genome.wustl.edu 37 2 122520632 122520632 + Nonsense_Mutation SNP C C G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 2 122520632 122520632 C G SNP TSN ENST00000389682 human ensembl 69_37n +1 known nonsense c.425 p.S142* 1.000 pfam_Translin,superfamily_Translin pfam_Translin,superfamily_Translin - no_errors TSN HGNC ENSG00000211460 41 0 0.00 33 4 10.81 - - - TTBK1 0 genome.wustl.edu 37 6 43227338 43227338 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 6 43227338 43227338 G A SNP TTBK1 ENST00000259750 human ensembl 69_37n +1 known missense c.1318 p.D440N 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK1 HGNC ENSG00000146216 58 0 0.00 70 10 12.50 - - - UBR4 0 genome.wustl.edu 37 1 19484363 19484363 + Silent SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 1 19484363 19484363 G C SNP UBR4 ENST00000375267 human ensembl 69_37n -1 known silent c.5706 p.L1902 0.985 superfamily_WD40_repeat_dom,superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 28 0 0.00 28 5 15.15 - - - UGT1A4 0 genome.wustl.edu 37 2 234681046 234681046 + Silent SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 2 234681046 234681046 C T SNP UGT1A4 ENST00000373409 human ensembl 69_37n +1 known silent c.1446 p.L482 1.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 40 0 0.00 33 6 15.38 - - - UGT2B28 0 genome.wustl.edu 37 4 70152547 70152547 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 4 70152547 70152547 G A SNP UGT2B28 ENST00000335568 human ensembl 69_37n +1 known missense c.948 p.M316I 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B28 HGNC ENSG00000135226 100 0 0.00 139 17 10.90 - - - UNC45A 0 genome.wustl.edu 37 15 91491411 91491411 + Silent SNP C C T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 15 91491411 91491411 C T SNP UNC45A ENST00000418476 human ensembl 69_37n +1 known silent c.1635 p.R545 1.000 superfamily_ARM-type_fold pfam_UNC-45/Ring3,superfamily_ARM-type_fold,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UNC45A HGNC ENSG00000140553 32 0 0.00 35 7 16.67 - - - USP13 0 genome.wustl.edu 37 3 179448005 179448005 + Missense_Mutation SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 3 179448005 179448005 G C SNP USP13 ENST00000263966 human ensembl 69_37n +1 known missense c.1117 p.D373H 1.000 pfam_Peptidase_C19,pirsf_Ubiquitinyl_hydrolase,pfscan_Peptidase_C19 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 69 0 0.00 59 9 13.24 - - - YLPM1 0 genome.wustl.edu 37 14 75265799 75265799 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 14 75265799 75265799 G A SNP YLPM1 ENST00000325680 human ensembl 69_37n +1 known missense c.3799 p.D1267N 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 HGNC ENSG00000119596 45 0 0.00 31 9 22.50 - - - YLPM1 0 genome.wustl.edu 37 14 75266090 75266090 + Missense_Mutation SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 14 75266090 75266090 G C SNP YLPM1 ENST00000325680 human ensembl 69_37n +1 known missense c.4090 p.D1364H 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 HGNC ENSG00000119596 29 0 0.00 31 8 20.51 - - - YLPM1 0 genome.wustl.edu 37 14 75266123 75266123 + Missense_Mutation SNP G G C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 14 75266123 75266123 G C SNP YLPM1 ENST00000325680 human ensembl 69_37n +1 known missense c.4123 p.E1375Q 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 HGNC ENSG00000119596 29 0 0.00 31 5 13.89 - - - ZAN 0 genome.wustl.edu 37 7 100349614 100349614 + Missense_Mutation SNP T T C TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 7 100349614 100349614 T C SNP ZAN ENST00000546292 human ensembl 69_37n +1 known missense c.1886 p.L629P 0.000 NULL pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 24 0 0.00 35 9 20.45 - - - ZMYM5 0 genome.wustl.edu 37 13 20425884 20425884 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 13 20425884 20425884 G A SNP ZMYM5 ENST00000337963 human ensembl 69_37n -1 known missense c.437 p.T146I 0.913 NULL pfam_Znf_MYM,smart_TRASH - no_errors ZMYM5 HGNC ENSG00000132950 64 0 0.00 62 7 10.14 - - - ZNF252P 0 genome.wustl.edu 37 8 146203008 146203008 + RNA SNP A A T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 8 146203008 146203008 A T SNP ZNF252P ENST00000426361 human ensembl 69_37n -1 known rna NULL NULL 0.221 - - - no_errors ZNF252P HGNC ENSG00000196922 49 0 0.00 54 8 12.90 - - - ZNF334 0 genome.wustl.edu 37 20 45130711 45130711 + Missense_Mutation SNP G G T TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 20 45130711 45130711 G T SNP ZNF334 ENST00000347606 human ensembl 69_37n -1 known missense c.1267 p.H423N 0.972 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 ZNF334 HGNC ENSG00000198185 30 0 0.00 32 4 11.11 - - - ZNF653 0 genome.wustl.edu 37 19 11597838 11597838 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 19 11597838 11597838 G A SNP ZNF653 ENST00000293771 human ensembl 69_37n -1 known missense c.1307 p.S436L 0.988 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF653 HGNC ENSG00000161914 44 0 0.00 51 6 10.53 - - - ZNF710 0 genome.wustl.edu 37 15 90611126 90611126 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 15 90611126 90611126 G A SNP ZNF710 ENST00000268154 human ensembl 69_37n +1 known missense c.757 p.E253K 0.706 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 25 0 0.00 54 8 12.90 - - - ZNF710 0 genome.wustl.edu 37 15 90611138 90611138 + Missense_Mutation SNP G G A TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 15 90611138 90611138 G A SNP ZNF710 ENST00000268154 human ensembl 69_37n +1 known missense c.769 p.D257N 0.269 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 27 0 0.00 54 9 14.29 - - - ZP3 0 genome.wustl.edu 37 7 76069881 76069881 + Missense_Mutation SNP A A G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 7 76069881 76069881 A G SNP ZP3 ENST00000394857 human ensembl 69_37n +1 known missense c.1013 p.H338R 0.000 NULL pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP3 HGNC ENSG00000188372 44 0 0.00 47 8 14.55 - - - ZP3 0 genome.wustl.edu 37 7 76069886 76069886 + Missense_Mutation SNP A A G TCGA-A2-A0CR-01A-11D-A228-09 TCGA-A2-A0CR-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f573c3c3-7b61-4955-8772-215b7cb9a763 3bdb54b4-1e26-4274-a1bd-800416ffbd34 7 76069886 76069886 A G SNP ZP3 ENST00000394857 human ensembl 69_37n +1 known missense c.1018 p.M340V 0.000 NULL pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP3 HGNC ENSG00000188372 43 0 0.00 45 10 18.18 - - -