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 ACACB 0 genome.wustl.edu 37 12 109687895 109687895 + Missense_Mutation SNP G G T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 12 109687895 109687895 G T SNP ACACB ENST00000338432 human ensembl 69_37n +1 known missense c.5776 p.V1926F 0.472 pfam_Carboxyl_trans,pfscan_COA_CT_N pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_fold,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 48 0 0.00 34 4 10.53 - - - ALMS1 0 genome.wustl.edu 37 2 73800418 73800418 + Missense_Mutation SNP G G A TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 2 73800418 73800418 G A SNP ALMS1 ENST00000264448 human ensembl 69_37n +1 known missense c.11411 p.R3804Q 0.601 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 15 0 0.00 7 5 41.67 - - - ARMC9 0 genome.wustl.edu 37 2 232234731 232234731 + RNA SNP C C A TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 2 232234731 232234731 C A SNP ARMC9 ENST00000483477 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ARMC9 HGNC ENSG00000135931 40 0 0.00 45 6 11.76 - - - ARMC9 0 genome.wustl.edu 37 2 232234732 232234732 + RNA SNP C C A TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 2 232234732 232234732 C A SNP ARMC9 ENST00000483477 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ARMC9 HGNC ENSG00000135931 40 0 0.00 47 6 11.32 - - - ASZ1 0 genome.wustl.edu 37 7 117008695 117008695 + Missense_Mutation SNP T T A TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 7 117008695 117008695 T A SNP ASZ1 ENST00000284629 human ensembl 69_37n -1 known missense c.1132 p.I378F 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ASZ1 HGNC ENSG00000154438 24 0 0.00 18 5 21.74 - - - ATF3 0 genome.wustl.edu 37 1 212793520 212793520 + RNA SNP G G A TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 1 212793520 212793520 G A SNP ATF3 ENST00000492118 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors ATF3 HGNC ENSG00000162772 8 0 0.00 4 10 71.43 - - - ATG5 0 genome.wustl.edu 37 6 106649958 106649958 + Missense_Mutation SNP T T A TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 6 106649958 106649958 T A SNP ATG5 ENST00000343245 human ensembl 69_37n -1 known missense c.580 p.T194S 0.991 pfam_Autophagy-rel_prot_5 pfam_Autophagy-rel_prot_5 - no_errors ATG5 HGNC ENSG00000057663 26 0 0.00 22 4 15.38 - - - ATG5 0 genome.wustl.edu 37 6 106649961 106649961 + Missense_Mutation SNP T T A TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 6 106649961 106649961 T A SNP ATG5 ENST00000343245 human ensembl 69_37n -1 known missense c.577 p.T193S 0.961 pfam_Autophagy-rel_prot_5 pfam_Autophagy-rel_prot_5 - no_errors ATG5 HGNC ENSG00000057663 26 0 0.00 21 4 16.00 - - - BRD2 0 genome.wustl.edu 37 6 32942393 32942394 + Frame_Shift_Del DEL CC CC - TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 CC CC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 6 32942393 32942394 CC - DEL BRD2 ENST00000395289 human ensembl 69_37n +1 known frame_shift_del c.184_185 p.P62fs 1.000:1.000 superfamily_Bromodomain pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 34 0 0.00 26 12 31.58 - - - C11orf82 0 genome.wustl.edu 37 11 82644836 82644836 + Missense_Mutation SNP C C G TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 11 82644836 82644836 C G SNP C11orf82 ENST00000430323 human ensembl 69_37n +1 known missense c.2456 p.A819G 0.001 NULL pfam_Rep_factor-A_C,superfamily_NA-bd_OB-fold-like - no_errors C11orf82 HGNC ENSG00000165490 23 0 0.00 17 5 22.73 - - - CACTIN 0 genome.wustl.edu 37 19 3619189 3619189 + Nonsense_Mutation SNP G G A TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 19 3619189 3619189 G A SNP CACTIN ENST00000589321 human ensembl 69_37n -1 known nonsense c.1 p.Q1* 1.000 NULL pfam_Cactin_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CACTIN HGNC ENSG00000105298 43 0 0.00 35 5 12.50 - - - CELA2B 0 genome.wustl.edu 37 1 15807633 15807633 + Missense_Mutation SNP C C A TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 1 15807633 15807633 C A SNP CELA2B ENST00000375910 human ensembl 69_37n +1 known missense c.170 p.T57N 1.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CELA2B HGNC ENSG00000215704 44 0 0.00 26 31 54.39 - - - CHERP 0 genome.wustl.edu 37 19 16641615 16641615 + Frame_Shift_Del DEL C C - TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 19 16641615 16641615 C - DEL CHERP ENST00000546361 human ensembl 69_37n -1 known frame_shift_del c.751 p.A251fs 1.000 pfam_RNA_pol_II-bd,superfamily_ENTH_VHS pfam_Surp,pfam_G_patch_dom,pfam_RNA_pol_II-bd,superfamily_Surp,superfamily_ENTH_VHS,smart_Surp,smart_G_patch_dom,pfscan_Surp,pfscan_G_patch_dom - no_errors CHERP HGNC ENSG00000085872 70 0 0.00 52 14 20.90 - - - CRISPLD2 0 genome.wustl.edu 37 16 84884220 84884220 + Missense_Mutation SNP G G T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 16 84884220 84884220 G T SNP CRISPLD2 ENST00000262424 human ensembl 69_37n +1 known missense c.539 p.C180F 1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD2 HGNC ENSG00000103196 63 0 0.00 36 4 10.00 - - - CSMD1 0 genome.wustl.edu 37 8 2967826 2967826 + Missense_Mutation SNP G G T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 8 2967826 2967826 G T SNP CSMD1 ENST00000520002 human ensembl 69_37n -1 known missense c.6465 p.N2155K 0.953 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 29 0 0.00 20 4 16.67 - - - DAB2 0 genome.wustl.edu 37 5 39376958 39376958 + Missense_Mutation SNP C C A TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 5 39376958 39376958 C A SNP DAB2 ENST00000320816 human ensembl 69_37n -1 known missense c.1931 p.G644V 1.000 NULL pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom - no_errors DAB2 HGNC ENSG00000153071 63 0 0.00 41 20 32.79 - - - DCTN2 0 genome.wustl.edu 37 12 57932304 57932304 + Silent SNP G G A TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 12 57932304 57932304 G A SNP DCTN2 ENST00000434715 human ensembl 69_37n -1 known silent c.118 p.L40 1.000 pfam_Dynamitin_2su pfam_Dynamitin_2su - no_errors DCTN2 HGNC ENSG00000175203 20 0 0.00 25 11 30.56 - - - DOPEY1 0 genome.wustl.edu 37 6 83847275 83847275 + Missense_Mutation SNP A A C TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 6 83847275 83847275 A C SNP DOPEY1 ENST00000349129 human ensembl 69_37n +1 known missense c.3514 p.T1172P 0.006 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 21 0 0.00 16 16 50.00 - - - E4F1 0 genome.wustl.edu 37 16 2283116 2283116 + Missense_Mutation SNP A A G TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 16 2283116 2283116 A G SNP E4F1 ENST00000301727 human ensembl 69_37n +1 known missense c.988 p.T330A 0.981 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors E4F1 HGNC ENSG00000167967 41 0 0.00 59 13 18.06 - - - ECI1 0 genome.wustl.edu 37 16 2296901 2296901 + Missense_Mutation SNP G G C TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 16 2296901 2296901 G C SNP ECI1 ENST00000301729 human ensembl 69_37n -1 known missense c.253 p.L85V 1.000 pfam_Crotonase_core pfam_Crotonase_core - no_errors ECI1 HGNC ENSG00000167969 51 0 0.00 70 10 12.50 - - - FAF1 0 genome.wustl.edu 37 1 51048354 51048354 + Missense_Mutation SNP G G T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 1 51048354 51048354 G T SNP FAF1 ENST00000371778 human ensembl 69_37n -1 known missense c.1049 p.P350H 1.000 smart_UAS pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC ENSG00000185104 17 0 0.00 13 3 18.75 - - - FAM13C 0 genome.wustl.edu 37 10 61023902 61023902 + Missense_Mutation SNP T T G TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 10 61023902 61023902 T G SNP FAM13C ENST00000373868 human ensembl 69_37n -1 known missense c.967 p.N323H 0.999 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 42 0 0.00 49 12 19.67 - - - FAM26D 0 genome.wustl.edu 37 6 116875223 116875223 + Nonsense_Mutation SNP C C G TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 6 116875223 116875223 C G SNP FAM26D ENST00000368596 human ensembl 69_37n +1 known nonsense c.267 p.Y89* 0.000 NULL NULL - no_errors FAM26D HGNC ENSG00000164451 34 0 0.00 18 24 57.14 - - - FBN2 0 genome.wustl.edu 37 5 127666379 127666379 + Missense_Mutation SNP C C T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 5 127666379 127666379 C T SNP FBN2 ENST00000262464 human ensembl 69_37n -1 known missense c.4231 p.E1411K 1.000 pirsf_Fibrillin,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pirsf_Fibrillin,pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 34 0 0.00 25 14 35.90 - - - FLT3 0 genome.wustl.edu 37 13 28631541 28631541 + Missense_Mutation SNP G G T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 13 28631541 28631541 G T SNP FLT3 ENST00000380982 human ensembl 69_37n -1 known missense c.427 p.L143I 0.994 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors FLT3 HGNC ENSG00000122025 63 0 0.00 34 4 10.53 - - - FREM3 0 genome.wustl.edu 37 4 144617328 144617328 + Missense_Mutation SNP T T C TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 4 144617328 144617328 T C SNP FREM3 ENST00000329798 human ensembl 69_37n -1 putative missense c.4501 p.T1501A 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM3 HGNC ENSG00000183090 52 0 0.00 22 4 15.38 - - - FRMD7 0 genome.wustl.edu 37 X 131220043 131220043 + Missense_Mutation SNP A A T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 X 131220043 131220043 A T SNP FRMD7 ENST00000298542 human ensembl 69_37n -1 known missense c.402 p.H134Q 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD7 HGNC ENSG00000165694 34 0 0.00 17 10 37.04 - - - FSIP2 0 genome.wustl.edu 37 2 186673767 186673767 + Frame_Shift_Del DEL T T - TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 2 186673767 186673767 T - DEL FSIP2 ENST00000343098 human ensembl 69_37n +1 known frame_shift_del c.20001 p.Y6668fs 0.013 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 15 0 0.00 3 2 40.00 - - - GOLGA7 0 genome.wustl.edu 37 8 41367138 41367138 + RNA SNP G G T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 8 41367138 41367138 G T SNP GOLGA7 ENST00000521417 human ensembl 69_37n +1 known rna NULL NULL 0.999 - - - no_errors GOLGA7 HGNC ENSG00000147533 34 0 0.00 34 4 10.53 - - - GUCY2F 0 genome.wustl.edu 37 X 108635324 108635324 + Missense_Mutation SNP G G A TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 X 108635324 108635324 G A SNP GUCY2F ENST00000218006 human ensembl 69_37n -1 known missense c.2597 p.A866V 1.000 pfam_Haem_no_assoc-bd,smart_A/G_cyclase pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors GUCY2F HGNC ENSG00000101890 21 0 0.00 16 4 20.00 - - - HORMAD2 0 genome.wustl.edu 37 22 30494914 30494914 + Missense_Mutation SNP C C T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 22 30494914 30494914 C T SNP HORMAD2 ENST00000336726 human ensembl 69_37n +1 known missense c.125 p.S42F 0.959 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 HORMAD2 HGNC ENSG00000176635 38 0 0.00 10 16 61.54 - - - IQCK 0 genome.wustl.edu 37 16 19775192 19775192 + Missense_Mutation SNP C C G TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 16 19775192 19775192 C G SNP IQCK ENST00000320394 human ensembl 69_37n +1 known missense c.497 p.A166G 1.000 NULL NULL - no_errors IQCK HGNC ENSG00000174628 13 0 0.00 5 7 58.33 - - - KIAA0825 0 genome.wustl.edu 37 5 93805804 93805804 + Silent SNP C C G TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 5 93805804 93805804 C G SNP KIAA0825 ENST00000427991 human ensembl 69_37n -1 known silent c.1734 p.L578 1.000 NULL NULL - no_errors KIAA0825 HGNC ENSG00000185261 17 0 0.00 9 6 40.00 - - - KIAA1217 0 genome.wustl.edu 37 10 24833322 24833323 + Frame_Shift_Del DEL AA AA - TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 10 24833322 24833323 AA - DEL KIAA1217 ENST00000376454 human ensembl 69_37n +1 known frame_shift_del c.5123_5124 p.Q1708fs 0.001:0.001 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 24 0 0.00 17 10 34.48 - - - KLK10 0 genome.wustl.edu 37 19 51519314 51519314 + Missense_Mutation SNP T T C TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 19 51519314 51519314 T C SNP KLK10 ENST00000309958 human ensembl 69_37n -1 known missense c.368 p.Q123R 0.000 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors KLK10 HGNC ENSG00000129451 39 0 0.00 25 15 37.50 - - - KRT13 0 genome.wustl.edu 37 17 39659292 39659292 + Missense_Mutation SNP G G T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 17 39659292 39659292 G T SNP KRT13 ENST00000246635 human ensembl 69_37n -1 known missense c.794 p.T265N 0.108 pfam_F,superfamily_Prefoldin,prints_Keratin_I pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT13 HGNC ENSG00000171401 29 0 0.00 14 12 46.15 - - - KRT28 0 genome.wustl.edu 37 17 38956060 38956060 + Missense_Mutation SNP C C T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 17 38956060 38956060 C T SNP KRT28 ENST00000306658 human ensembl 69_37n -1 known missense c.86 p.G29D 0.973 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 19 0 0.00 7 13 65.00 - - - LINGO4 0 genome.wustl.edu 37 1 151774826 151774826 + Missense_Mutation SNP G G C TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 1 151774826 151774826 G C SNP LINGO4 ENST00000368820 human ensembl 69_37n -1 known missense c.355 p.R119G 0.997 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors LINGO4 HGNC ENSG00000213171 28 0 0.00 39 12 23.53 - - - MANBA 0 genome.wustl.edu 37 4 103610766 103610766 + Missense_Mutation SNP G G T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 4 103610766 103610766 G T SNP MANBA ENST00000226578 human ensembl 69_37n -1 known missense c.925 p.L309M 0.097 superfamily_Glyco_hydro_2_Ig-like pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like - no_errors MANBA HGNC ENSG00000109323 52 0 0.00 30 4 11.76 - - - MPP1 0 genome.wustl.edu 37 X 154020090 154020090 + Silent SNP G G A TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 X 154020090 154020090 G A SNP MPP1 ENST00000369534 human ensembl 69_37n -1 known silent c.279 p.S93 0.031 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Guanylate_kin,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors MPP1 HGNC ENSG00000130830 33 0 0.00 24 14 36.84 - - - MSH4 0 genome.wustl.edu 37 1 76356408 76356408 + Missense_Mutation SNP G G A TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 1 76356408 76356408 G A SNP MSH4 ENST00000263187 human ensembl 69_37n +1 known missense c.2254 p.D752N 0.999 pfam_DNA_mismatch_repair_MutS_C,smart_DNA_mismatch_repair_MutS_C pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mismatch_repair_MutS_connt,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_connt,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH4 HGNC ENSG00000057468 47 0 0.00 29 6 17.14 - - - MUC4 0 genome.wustl.edu 37 3 195480050 195480050 + Missense_Mutation SNP C C T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 3 195480050 195480050 C T SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.15380 p.C5127Y 0.983 smart_EGF-like,pfscan_EG-like_dom pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 22 0 0.00 18 24 57.14 - - - NELL1 0 genome.wustl.edu 37 11 20805317 20805317 + Silent SNP T T G TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 11 20805317 20805317 T G SNP NELL1 ENST00000357134 human ensembl 69_37n +1 known silent c.276 p.T92 0.004 superfamily_ConA-like_lec_gl,smart_Laminin_G pfam_EGF-like_Ca-bd,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL1 HGNC ENSG00000165973 30 0 0.00 26 5 16.13 - - - NWD1 0 genome.wustl.edu 37 19 16842052 16842052 + Missense_Mutation SNP G G T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 19 16842052 16842052 G T SNP NWD1 ENST00000379808 human ensembl 69_37n +1 known missense c.44 p.C15F 0.578 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 16 0 0.00 21 7 25.00 - - - OBSCN 0 genome.wustl.edu 37 1 228487757 228487757 + Missense_Mutation SNP T T A TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 1 228487757 228487757 T A SNP OBSCN ENST00000366707 human ensembl 69_37n +1 known missense c.3719 p.L1240Q 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_DH-domain,pfam_Fibronectin_type3,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 48 0 0.00 52 14 21.21 - - - OR4F17 0 genome.wustl.edu 37 19 111016 111016 + Missense_Mutation SNP T T G TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 19 111016 111016 T G SNP OR4F17 ENST00000318050 human ensembl 69_37n +1 known missense c.338 p.F113C 0.999 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4F17 HGNC ENSG00000176695 12 0 0.00 5 3 37.50 - - - OR52A5 0 genome.wustl.edu 37 11 5153313 5153313 + Missense_Mutation SNP A A G TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 11 5153313 5153313 A G SNP OR52A5 ENST00000307388 human ensembl 69_37n -1 known missense c.560 p.I187T 0.982 pfam_7TM_GPCR_Rhodpsn,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 OR52A5 HGNC ENSG00000171944 23 0 0.00 34 5 12.82 - - - PASD1 0 genome.wustl.edu 37 X 150832673 150832673 + Silent SNP G G T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 X 150832673 150832673 G T SNP PASD1 ENST00000370357 human ensembl 69_37n +1 known silent c.924 p.V308 0.005 NULL smart_PAS,pfscan_PAS - no_errors PASD1 HGNC ENSG00000166049 35 0 0.00 21 3 12.50 - - - PGAM1 0 genome.wustl.edu 37 10 99192356 99192356 + RNA SNP C C G TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 10 99192356 99192356 C G SNP PGAM1 ENST00000467867 human ensembl 69_37n +1 known rna NULL NULL 0.167 - - - no_errors PGAM1 HGNC ENSG00000171314 25 0 0.00 7 5 41.67 - - - PHF12 0 genome.wustl.edu 37 17 27238259 27238259 + RNA SNP G G T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 17 27238259 27238259 G T SNP PHF12 ENST00000579563 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors PHF12 HGNC ENSG00000109118 44 0 0.00 37 6 13.95 - - - PSIP1 0 genome.wustl.edu 37 9 15472724 15472724 + Missense_Mutation SNP G G C TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 9 15472724 15472724 G C SNP PSIP1 ENST00000380733 human ensembl 69_37n -1 known missense c.883 p.Q295E 0.999 NULL pfam_LEDGF,pfam_PWWP,smart_PWWP,prints_Treacle-like_TCS,pfscan_PWWP - no_errors PSIP1 HGNC ENSG00000164985 51 0 0.00 40 20 33.33 - - - PTGES2 0 genome.wustl.edu 37 9 130883459 130883459 + Missense_Mutation SNP C C G TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 9 130883459 130883459 C G SNP PTGES2 ENST00000338961 human ensembl 69_37n -1 known missense c.1099 p.E367Q 1.000 pfam_GST_C,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 32 0 0.00 33 16 32.65 - - - RB1 0 genome.wustl.edu 37 13 48881458 48881459 + Frame_Shift_Ins INS - - AT TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 13 48881458 48881459 - AT INS RB1 ENST00000267163 human ensembl 69_37n +1 known frame_shift_ins c.180_181 p.C60fs 1.000:1.000 superfamily_FH2_actin-bd,superfamily_Cyclin-like pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 15 0 0.00 10 7 41.18 - - - RIPK3 0 genome.wustl.edu 37 14 24806073 24806073 + Silent SNP G G C TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 14 24806073 24806073 G C SNP RIPK3 ENST00000554569 human ensembl 69_37n -1 putative silent c.396 p.L132 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region RIPK3 HGNC ENSG00000129465 37 0 0.00 21 22 51.16 - - - RNF111 0 genome.wustl.edu 37 15 59377902 59377902 + Missense_Mutation SNP C C T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 15 59377902 59377902 C T SNP RNF111 ENST00000434298 human ensembl 69_37n +1 known missense c.2495 p.P832L 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 36 0 0.00 23 7 23.33 - - - RPRD1B 0 genome.wustl.edu 37 20 36718278 36718278 + RNA SNP G G C TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 20 36718278 36718278 G C SNP RPRD1B ENST00000471511 human ensembl 69_37n +1 known rna NULL NULL 0.996 - - - no_errors RPRD1B HGNC ENSG00000101413 25 0 0.00 15 11 42.31 - - - RYR1 0 genome.wustl.edu 37 19 38974020 38974020 + Missense_Mutation SNP A A G TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 19 38974020 38974020 A G SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known missense c.4798 p.M1600V 0.995 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 53 0 0.00 54 28 34.15 - - - SAFB 0 genome.wustl.edu 37 19 5653376 5653376 + Missense_Mutation SNP A A T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 19 5653376 5653376 A T SNP SAFB ENST00000588852 human ensembl 69_37n +1 known missense c.1471 p.T491S 0.802 NULL pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom - no_errors SAFB HGNC ENSG00000160633 21 0 0.00 13 14 51.85 - - - SCML2 0 genome.wustl.edu 37 X 18278329 18278329 + Missense_Mutation SNP T T C TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 X 18278329 18278329 T C SNP SCML2 ENST00000251900 human ensembl 69_37n -1 known missense c.1031 p.D344G 0.005 NULL pfam_Mbt,pfam_DUF3588,pfam_SAM_type1,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt - no_errors SCML2 HGNC ENSG00000102098 65 0 0.00 35 19 35.19 - - - SHROOM3 0 genome.wustl.edu 37 4 77661463 77661463 + Missense_Mutation SNP G G T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 4 77661463 77661463 G T SNP SHROOM3 ENST00000296043 human ensembl 69_37n +1 known missense c.2137 p.G713W 0.000 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 47 0 0.00 21 3 12.50 - - - SLC1A7 0 genome.wustl.edu 37 1 53569223 53569223 + Silent SNP G G T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 1 53569223 53569223 G T SNP SLC1A7 ENST00000371494 human ensembl 69_37n -1 known silent c.492 p.T164 0.941 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A7 HGNC ENSG00000162383 31 0 0.00 18 14 43.75 - - - SPATA6L 0 genome.wustl.edu 37 9 4629098 4629098 + Missense_Mutation SNP C C G TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 9 4629098 4629098 C G SNP SPATA6L ENST00000454239 human ensembl 69_37n -1 known missense c.422 p.R141T 0.997 NULL NULL - no_errors SPATA6L HGNC ENSG00000106686 23 0 0.00 19 10 34.48 - - - ST18 0 genome.wustl.edu 37 8 53092687 53092687 + Missense_Mutation SNP G G A TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 8 53092687 53092687 G A SNP ST18 ENST00000276480 human ensembl 69_37n -1 known missense c.272 p.T91I 0.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 60 0 0.00 39 16 29.09 - - - TBC1D3P5 0 genome.wustl.edu 37 17 25758564 25758564 + RNA SNP G G A TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 17 25758564 25758564 G A SNP TBC1D3P5 ENST00000586223 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors TBC1D3P5 HGNC ENSG00000266433 14 0 0.00 6 5 45.45 - - - TMEM151B 0 genome.wustl.edu 37 6 44243614 44243614 + Missense_Mutation SNP A A G TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 6 44243614 44243614 A G SNP TMEM151B ENST00000451188 human ensembl 69_37n +1 known missense c.1051 p.S351G 1.000 NULL NULL - no_errors TMEM151B HGNC ENSG00000178233 9 0 0.00 11 4 26.67 - - - TMPRSS12 0 genome.wustl.edu 37 12 51252720 51252720 + Missense_Mutation SNP A A G TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 12 51252720 51252720 A G SNP TMPRSS12 ENST00000398458 human ensembl 69_37n +1 known missense c.536 p.K179R 0.968 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS12 HGNC ENSG00000186452 34 0 0.00 23 17 42.50 - - - TRPC4AP 0 genome.wustl.edu 37 20 33645320 33645320 + Missense_Mutation SNP T T C TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 20 33645320 33645320 T C SNP TRPC4AP ENST00000252015 human ensembl 69_37n -1 known missense c.469 p.K157E 1.000 NULL pfam_DUF3689 - no_errors TRPC4AP HGNC ENSG00000100991 99 0 0.00 74 41 35.65 - - - TTN 0 genome.wustl.edu 37 2 179586824 179586824 + Silent SNP T T C TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 2 179586824 179586824 T C SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.18834 p.V6278 0.742 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 39 0 0.00 11 23 67.65 - - - UHMK1 0 genome.wustl.edu 37 1 162482580 162482580 + Missense_Mutation SNP G G A TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 1 162482580 162482580 G A SNP UHMK1 ENST00000489294 human ensembl 69_37n +1 known missense c.991 p.D331N 1.000 superfamily_Kinase-like_dom,smart_RRM_dom,pfscan_RRM_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_cat_dom - no_errors UHMK1 HGNC ENSG00000152332 34 0 0.00 46 11 19.30 - - - WBP1 0 genome.wustl.edu 37 2 74687076 74687076 + Missense_Mutation SNP G G T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 2 74687076 74687076 G T SNP WBP1 ENST00000233615 human ensembl 69_37n +1 known missense c.249 p.R83S 0.995 pfam_Uncharacterised_WW-bd pfam_Uncharacterised_WW-bd - no_errors WBP1 HGNC ENSG00000239779 23 0 0.00 10 7 41.18 - - - WDR1 0 genome.wustl.edu 37 4 10117755 10117755 + Silent SNP G G T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 4 10117755 10117755 G T SNP WDR1 ENST00000382452 human ensembl 69_37n -1 known silent c.120 p.V40 1.000 superfamily_WD40_repeat_dom 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 WDR1 HGNC ENSG00000071127 71 0 0.00 47 18 27.69 - - - WDR17 0 genome.wustl.edu 37 4 177083309 177083309 + Missense_Mutation SNP C C T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 4 177083309 177083309 C T SNP WDR17 ENST00000280190 human ensembl 69_37n +1 known missense c.2906 p.A969V 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR17 HGNC ENSG00000150627 43 0 0.00 16 3 15.00 - - - WDR35 0 genome.wustl.edu 37 2 20147950 20147950 + Missense_Mutation SNP G G T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 2 20147950 20147950 G T SNP WDR35 ENST00000345530 human ensembl 69_37n -1 known missense c.1532 p.T511N 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p35 pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pirsf_WD_repeat_p35,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR35 HGNC ENSG00000118965 33 0 0.00 14 3 17.65 - - - ZBED5 0 genome.wustl.edu 37 11 10875564 10875564 + Missense_Mutation SNP G G C TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 11 10875564 10875564 G C SNP ZBED5 ENST00000413761 human ensembl 69_37n -1 putative missense c.929 p.S310C 1.000 superfamily_RNaseH-like_dom superfamily_RNaseH-like_dom,pfscan_Znf_BED_prd - no_errors ZBED5 HGNC ENSG00000236287 26 0 0.00 10 8 44.44 - - - ZNF721 0 genome.wustl.edu 37 4 436142 436142 + Missense_Mutation SNP G G C TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 4 436142 436142 G C SNP ZNF721 ENST00000511833 human ensembl 69_37n -1 known missense c.2114 p.A705G 0.701 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF721 HGNC ENSG00000182903 52 0 0.00 12 18 60.00 - - - ZYX 0 genome.wustl.edu 37 7 143085893 143085893 + Missense_Mutation SNP C C T TCGA-E9-A3HO-01A-11D-A20S-09 TCGA-E9-A3HO-10A-02D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 76ac3cf6-352b-401d-b029-f523a9133fd9 e3be43c8-9ab3-48dd-b8e6-de5fa770d861 7 143085893 143085893 C T SNP ZYX ENST00000322764 human ensembl 69_37n +1 known missense c.1348 p.P450S 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZYX HGNC ENSG00000159840 36 0 0.00 21 25 54.35 - - -