Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF AAAS 0 genome.wustl.edu 37 12 53702239 53702239 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 12 53702239 53702239 C A SNP AAAS ENST00000209873 human ensembl 74_37 -1 known missense c.1161 p.Q387H 0.570 NULL pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAAS HGNC ENSG00000094914 tier1 - - 32 0 0.00 44 4 8.33 ABCA12 0 genome.wustl.edu 37 2 215865633 215865633 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 215865633 215865633 G T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known missense c.2975 p.A992E 0.777 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 tier1 - - 71 0 0.00 42 4 8.70 ABCA2 0 genome.wustl.edu 37 9 139906593 139906593 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 9 139906593 139906593 G T SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.5321 p.P1774H 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 tier1 - - 51 0 0.00 59 4 6.35 ABI3BP 0 genome.wustl.edu 37 3 100530638 100530638 + Missense_Mutation SNP C C T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 3 100530638 100530638 C T SNP ABI3BP ENST00000383691 human ensembl 74_37 -1 known missense c.1279 p.A427T 0.007 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 tier1 - - 58 0 0.00 20 3 13.04 ABI3BP 0 genome.wustl.edu 37 3 100551140 100551140 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 3 100551140 100551140 G T SNP ABI3BP ENST00000383691 human ensembl 74_37 -1 known missense c.305 p.T102K 0.994 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 tier1 - - 139 0 0.00 42 4 8.70 ADAMTS12 0 genome.wustl.edu 37 5 33642025 33642025 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 33642025 33642025 C A SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.1608 p.K536N 1.000 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 36 0 0.00 32 2 5.88 ADH7 0 genome.wustl.edu 37 4 100341790 100341790 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 4 100341790 100341790 C A SNP ADH7 ENST00000209665 human ensembl 74_37 -1 known missense c.761 p.S254I 1.000 pfam_ADH_C pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like - no_errors ADH7 HGNC ENSG00000196344 60 0 0.00 28 2 6.67 ADPRHL2 0 genome.wustl.edu 37 1 36558863 36558863 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 36558863 36558863 G T SNP ADPRHL2 ENST00000373178 human ensembl 74_37 +1 known missense c.968 p.G323V 1.000 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 - no_errors ADPRHL2 HGNC ENSG00000116863 tier1 - - 40 0 0.00 29 4 12.12 AGO4 0 genome.wustl.edu 37 1 36297117 36297117 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 36297117 36297117 C A SNP AGO4 ENST00000373210 human ensembl 74_37 +1 known missense c.938 p.P313H 1.000 pfam_PAZ_dom,superfamily_PAZ_dom,smart_PAZ_dom,pfscan_PAZ_dom pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO4 HGNC ENSG00000134698 87 0 0.00 70 4 5.41 AK9 0 genome.wustl.edu 37 6 109850198 109850201 + Frame_Shift_Del DEL AAAC AAAC - TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 AAAC AAAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 6 109850198 109850201 AAAC - DEL AK9 ENST00000355283 human ensembl 74_37 -1 novel frame_shift_del c.886_883 p.V295fs 0.003:0.003:0.000:0.000 NULL pfam_Adenylate_kin,pfam_YHS_dom,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase - no_errors AK9 HGNC ENSG00000155085 tier1 114 0 0.00 26 2 7.14 ALDH1B1 0 genome.wustl.edu 37 9 38396346 38396346 + Missense_Mutation SNP G G A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 9 38396346 38396346 G A SNP ALDH1B1 ENST00000377698 human ensembl 74_37 +1 known missense c.601 p.A201T 0.998 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1B1 HGNC ENSG00000137124 25 0 0.00 28 2 6.67 ALDOC 0 genome.wustl.edu 37 17 26901148 26901148 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 17 26901148 26901148 G T SNP ALDOC ENST00000226253 human ensembl 74_37 -1 known missense c.736 p.P246T 0.999 pfam_Aldolase_I pfam_Aldolase_I - no_errors ALDOC HGNC ENSG00000109107 tier1 - - 51 0 0.00 40 4 9.09 ANKFN1 0 genome.wustl.edu 37 17 54450138 54450138 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 17 54450138 54450138 C A SNP ANKFN1 ENST00000318698 human ensembl 74_37 +1 known missense c.742 p.L248M 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Fibronectin_type3,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Fibronectin_type3 - no_errors ANKFN1 HGNC ENSG00000153930 tier1 - - 35 0 0.00 49 4 7.55 AOX2P 0 genome.wustl.edu 37 2 201619758 201619761 + RNA DEL TGTG TGTG - TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 TGTG TGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 201619758 201619761 TGTG - DEL AOX2P ENST00000472376 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.002:0.002 - - - no_errors AOX2P HGNC ENSG00000243478 tier1 18 0 0.00 15 4 21.05 ATAD1 0 genome.wustl.edu 37 10 89544289 89544289 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 10 89544289 89544289 G T SNP ATAD1 ENST00000308448 human ensembl 74_37 -1 known missense c.521 p.A174D 1.000 pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD1 HGNC ENSG00000138138 tier1 - - 61 0 0.00 33 4 10.81 ATM 0 genome.wustl.edu 37 11 108186796 108186796 + Nonsense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 11 108186796 108186796 G T SNP ATM ENST00000278616 human ensembl 74_37 +1 known nonsense c.6154 p.E2052* 1.000 superfamily_ARM-type_fold,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 48 0 0.00 48 3 5.88 ATP1A2 0 genome.wustl.edu 37 1 160106084 160106084 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 160106084 160106084 G T SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known missense c.2487 p.M829I 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A2 HGNC ENSG00000018625 44 0 0.00 47 4 7.84 ATP8B5P 0 genome.wustl.edu 37 9 35406762 35406762 + RNA SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 9 35406762 35406762 G T SNP ATP8B5P ENST00000329395 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ATP8B5P HGNC ENSG00000179766 tier1 - - 42 0 0.00 58 5 7.94 BCAT2 0 genome.wustl.edu 37 19 49300259 49300259 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 19 49300259 49300259 G T SNP BCAT2 ENST00000316273 human ensembl 74_37 -1 known missense c.859 p.P287T 1.000 pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII pfam_Aminotrans_IV,superfamily_Aminotrans_IV,pirsf_B_amino_transII,tigrfam_B_amino_transII - no_errors BCAT2 HGNC ENSG00000105552 tier1 - - 45 0 0.00 76 5 6.17 BIRC6 0 genome.wustl.edu 37 2 32754752 32754752 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 32754752 32754752 G T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.11955 p.Q3985H 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 tier1 - - 75 0 0.00 59 6 9.09 BOC 0 genome.wustl.edu 37 3 112997068 112997068 + Nonsense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 3 112997068 112997068 G T SNP BOC ENST00000273395 human ensembl 74_37 +1 known nonsense c.1669 p.G557* 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 32 0 0.00 63 4 5.97 BRCA1 0 genome.wustl.edu 37 17 41234517 41234517 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 17 41234517 41234517 G T SNP BRCA1 ENST00000471181 human ensembl 74_37 -1 known missense c.4261 p.H1421N 0.982 pirsf_BRCA1 pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING - no_errors BRCA1 HGNC ENSG00000012048 tier1 - - 83 0 0.00 56 4 6.67 BRINP3 0 genome.wustl.edu 37 1 190067408 190067408 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 190067408 190067408 G T SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known silent c.2041 p.R681 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 49 0 0.00 20 2 9.09 C16orf72 0 genome.wustl.edu 37 16 9210601 9210601 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 16 9210601 9210601 G T SNP C16orf72 ENST00000327827 human ensembl 74_37 +1 known silent c.660 p.S220 1.000 NULL NULL - no_errors C16orf72 HGNC ENSG00000182831 tier1 - - 71 0 0.00 74 5 6.33 C17orf85 0 genome.wustl.edu 37 17 3721643 3721643 + Silent SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 17 3721643 3721643 C A SNP C17orf85 ENST00000389005 human ensembl 74_37 -1 known silent c.1224 p.L408 1.000 NULL pfam_DUF2414 - no_errors C17orf85 HGNC ENSG00000074356 46 0 0.00 35 2 5.41 C20orf194 0 genome.wustl.edu 37 20 3268358 3268358 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 20 3268358 3268358 G T SNP C20orf194 ENST00000252032 human ensembl 74_37 -1 known silent c.2406 p.A802 1.000 NULL NULL - no_errors C20orf194 HGNC ENSG00000088854 tier1 - - 44 0 0.00 54 4 6.90 C2orf71 0 genome.wustl.edu 37 2 29295900 29295900 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 29295900 29295900 G T SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known missense c.1228 p.Q410K 1.000 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 tier1 - - 45 0 0.00 47 4 7.84 C9orf156 0 genome.wustl.edu 37 9 100672785 100672785 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 9 100672785 100672785 C A SNP C9orf156 ENST00000375119 human ensembl 74_37 -1 known missense c.523 p.D175Y 0.022 superfamily_UPF0066_YaeB pfam_UPF0066,superfamily_UPF0066_YaeB,tigrfam_UPF0066 - no_errors C9orf156 HGNC ENSG00000136932 24 0 0.00 30 3 9.09 CACNA1A 0 genome.wustl.edu 37 19 13441098 13441098 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 19 13441098 13441098 G T SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known silent c.1305 p.P435 0.963 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 48 0 0.00 48 3 5.88 CAPN13 0 genome.wustl.edu 37 2 30993193 30993193 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 30993193 30993193 C A SNP CAPN13 ENST00000295055 human ensembl 74_37 -1 known missense c.510 p.E170D 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN13 HGNC ENSG00000162949 tier1 - - 51 0 0.00 48 4 7.69 CASP14 0 genome.wustl.edu 37 19 15164352 15164352 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 19 15164352 15164352 G T SNP CASP14 ENST00000221740 human ensembl 74_37 +1 known silent c.87 p.R29 0.912 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP14 HGNC ENSG00000105141 tier1 - - 52 0 0.00 46 4 8.00 CCDC113 0 genome.wustl.edu 37 16 58286746 58286746 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 16 58286746 58286746 G T SNP CCDC113 ENST00000219299 human ensembl 74_37 +1 known missense c.217 p.D73Y 0.218 NULL NULL - no_errors CCDC113 HGNC ENSG00000103021 tier1 - - 42 0 0.00 29 4 12.12 CCDC138 0 genome.wustl.edu 37 2 109411085 109411085 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 109411085 109411085 C A SNP CCDC138 ENST00000295124 human ensembl 74_37 +1 known missense c.484 p.P162T 0.001 NULL NULL - no_errors CCDC138 HGNC ENSG00000163006 tier1 - - 73 0 0.00 69 4 5.48 CCDC150 0 genome.wustl.edu 37 2 197594039 197594039 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 197594039 197594039 G T SNP CCDC150 ENST00000389175 human ensembl 74_37 +1 known missense c.2679 p.K893N 1.000 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 60 0 0.00 32 2 5.88 CCDC158 0 genome.wustl.edu 37 4 77303786 77303786 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 4 77303786 77303786 G T SNP CCDC158 ENST00000388914 human ensembl 74_37 -1 known silent c.891 p.I297 1.000 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 tier1 - - 58 0 0.00 31 4 11.43 CCDC30 0 genome.wustl.edu 37 1 42948562 42948563 + RNA INS - - A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 42948562 42948563 - A INS CCDC30 ENST00000475614 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.003 - - - no_errors CCDC30 HGNC ENSG00000186409 tier1 35 0 0.00 12 2 14.29 CCND1 0 genome.wustl.edu 37 11 69465988 69465990 + In_Frame_Del DEL GAG GAG - TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 11 69465988 69465990 GAG - DEL CCND1 ENST00000227507 human ensembl 74_37 +1 known in_frame_del c.826_828 p.E279in_frame_del 0.006:0.008:0.008 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCND1 HGNC ENSG00000110092 tier1 32 0 0.00 47 3 6.00 CDC6 0 genome.wustl.edu 37 17 38447798 38447798 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 17 38447798 38447798 G T SNP CDC6 ENST00000209728 human ensembl 74_37 +1 known missense c.538 p.D180Y 1.000 superfamily_P-loop_NTPase,pirsf_Cell_div_Cdc6/18 pfam_ATPase_AAA_core,pfam_Cdc6_C_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Cell_div_Cdc6/18 - no_errors CDC6 HGNC ENSG00000094804 tier1 - - 38 0 0.00 51 4 7.27 CDH6 0 genome.wustl.edu 37 5 31323323 31323323 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 31323323 31323323 G T SNP CDH6 ENST00000265071 human ensembl 74_37 +1 known missense c.2281 p.D761Y 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 tier1 - - 54 0 0.00 53 4 7.02 CDK8 0 genome.wustl.edu 37 13 26967644 26967644 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 13 26967644 26967644 G T SNP CDK8 ENST00000381527 human ensembl 74_37 +1 known missense c.787 p.A263S 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_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_dom - no_errors CDK8 HGNC ENSG00000132964 tier1 - - 56 0 0.00 46 4 8.00 CEACAM5 0 genome.wustl.edu 37 19 42221408 42221408 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 19 42221408 42221408 C A SNP CEACAM5 ENST00000221992 human ensembl 74_37 +1 known missense c.993 p.N331K 0.538 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM5 HGNC ENSG00000105388 tier1 - - 98 0 0.00 79 7 8.14 CIITA 0 genome.wustl.edu 37 16 11004059 11004059 + Nonsense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 16 11004059 11004059 C A SNP CIITA ENST00000324288 human ensembl 74_37 +1 known nonsense c.2831 p.S944* 0.004 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact - no_errors CIITA HGNC ENSG00000179583 43 0 0.00 34 2 5.56 CNOT10 0 genome.wustl.edu 37 3 32806207 32806207 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 3 32806207 32806207 C A SNP CNOT10 ENST00000454516 human ensembl 74_37 +1 known missense c.2090 p.S697Y 1.000 NULL pfam_TPR_1,smart_TPR_repeat - no_errors CNOT10 HGNC ENSG00000182973 38 0 0.00 47 3 6.00 CNTN2 0 genome.wustl.edu 37 1 205033529 205033529 + Silent SNP C C T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 205033529 205033529 C T SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known silent c.1320 p.C440 0.991 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN2 HGNC ENSG00000184144 tier1 - - 38 0 0.00 36 4 10.00 COL10A1 0 genome.wustl.edu 37 6 116441237 116441237 + Nonstop_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 6 116441237 116441237 C A SNP COL10A1 ENST00000243222 human ensembl 74_37 -1 known nonstop c.2042 p.*681L 1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL10A1 HGNC ENSG00000123500 47 0 0.00 49 5 9.26 COL14A1 0 genome.wustl.edu 37 8 121243717 121243717 + Nonsense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 8 121243717 121243717 G T SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known nonsense c.2209 p.G737* 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 57 0 0.00 57 3 5.00 COL17A1 0 genome.wustl.edu 37 10 105819953 105819953 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 10 105819953 105819953 C A SNP COL17A1 ENST00000353479 human ensembl 74_37 -1 known missense c.1065 p.K355N 1.000 NULL pfam_Collagen - no_errors COL17A1 HGNC ENSG00000065618 tier1 - - 29 0 0.00 34 4 10.53 CSF1 0 genome.wustl.edu 37 1 110466455 110466455 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 110466455 110466455 G T SNP CSF1 ENST00000329608 human ensembl 74_37 +1 known missense c.1212 p.R404S 0.000 pfam_MCSF-1,pirsf_MCSF-1 pfam_MCSF-1,superfamily_4_helix_cytokine-like_core,pirsf_MCSF-1 - no_errors CSF1 HGNC ENSG00000184371 53 0 0.00 66 4 5.71 CSMD3 0 genome.wustl.edu 37 8 113318394 113318394 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 8 113318394 113318394 G T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.7913 p.P2638Q 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 55 0 0.00 25 2 7.41 CYP11A1 0 genome.wustl.edu 37 15 74635355 74635355 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 15 74635355 74635355 G T SNP CYP11A1 ENST00000268053 human ensembl 74_37 -1 known missense c.953 p.A318D 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP11A1 HGNC ENSG00000140459 42 0 0.00 39 4 9.30 D2HGDH 0 genome.wustl.edu 37 2 242690702 242690702 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 242690702 242690702 G T SNP D2HGDH ENST00000321264 human ensembl 74_37 +1 known missense c.1039 p.A347S 0.000 pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors D2HGDH HGNC ENSG00000180902 28 0 0.00 25 2 7.41 DAPK1 0 genome.wustl.edu 37 9 90254606 90254606 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 9 90254606 90254606 G T SNP DAPK1 ENST00000469640 human ensembl 74_37 +1 known missense c.595 p.D199Y 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 89 0 0.00 53 3 5.36 DHX32 0 genome.wustl.edu 37 10 127540925 127540925 + Missense_Mutation SNP C C T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 10 127540925 127540925 C T SNP DHX32 ENST00000284690 human ensembl 74_37 -1 known missense c.1288 p.V430M 1.000 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC ENSG00000089876 45 0 0.00 57 3 5.00 DIMT1 0 genome.wustl.edu 37 5 61689848 61689848 + Silent SNP C C T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 61689848 61689848 C T SNP DIMT1 ENST00000199320 human ensembl 74_37 -1 known silent c.597 p.P199 0.996 pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase - no_errors DIMT1 HGNC ENSG00000086189 tier1 - - 46 0 0.00 26 4 13.33 DNAH5 0 genome.wustl.edu 37 5 13839571 13839571 + Nonsense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 13839571 13839571 C A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known nonsense c.5776 p.E1926* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 36 0 0.00 36 2 5.26 DOCK5 0 genome.wustl.edu 37 8 25237874 25237874 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 8 25237874 25237874 C A SNP DOCK5 ENST00000276440 human ensembl 74_37 +1 known missense c.3990 p.S1330R 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 55 0 0.00 56 4 6.67 DPH7 0 genome.wustl.edu 37 9 140473264 140473264 + RNA SNP G G C TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 9 140473264 140473264 G C SNP DPH7 ENST00000467768 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DPH7 HGNC ENSG00000148399 tier1 - - 47 0 0.00 42 4 8.70 DSG1 0 genome.wustl.edu 37 18 28916515 28916515 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 18 28916515 28916515 G T SNP DSG1 ENST00000257192 human ensembl 74_37 +1 known missense c.1204 p.D402Y 0.001 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmosomal_cadherin - no_errors DSG1 HGNC ENSG00000134760 67 0 0.00 36 2 5.26 DYSF 0 genome.wustl.edu 37 2 71797024 71797024 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 71797024 71797024 G T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.2978 p.G993V 1.000 smart_Peroxin/Ferlin pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 43 0 0.00 57 3 5.00 ECHDC1 0 genome.wustl.edu 37 6 127637118 127637118 + Frame_Shift_Del DEL A A - TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 6 127637118 127637118 A - DEL ECHDC1 ENST00000368292 human ensembl 74_37 -1 known frame_shift_del c.418 p.*140fs 0.001 NULL pfam_Crotonase_core_superfam - no_errors ECHDC1 HGNC ENSG00000093144 tier1 68 0 0.00 18 2 10.00 EIF2AK2 0 genome.wustl.edu 37 2 37368815 37368815 + Silent SNP C C T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 37368815 37368815 C T SNP EIF2AK2 ENST00000233057 human ensembl 74_37 -1 known silent c.270 p.T90 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_dsRNA-bd_dom,superfamily_Kinase-like_dom,smart_dsRNA-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_dsRNA-bd_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EIF2AK2 HGNC ENSG00000055332 47 0 0.00 43 3 6.52 EIF4G1 0 genome.wustl.edu 37 3 184042019 184042019 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 3 184042019 184042019 G T SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known missense c.2524 p.V842L 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 tier1 - - 51 0 0.00 69 4 5.48 EIF4G1 0 genome.wustl.edu 37 3 184049760 184049760 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 3 184049760 184049760 G T SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known missense c.4525 p.A1509S 0.057 superfamily_ARM-type_fold pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 17 0 0.00 33 4 10.81 ENOSF1 0 genome.wustl.edu 37 18 690729 690730 + Frame_Shift_Ins INS - - T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 18 690729 690730 - T INS ENOSF1 ENST00000581475 human ensembl 74_37 -1 known frame_shift_ins c.440_439 p.T147fs 0.009:0.019 NULL pfam_Mandelate_racemase_N - no_errors ENOSF1 HGNC ENSG00000132199 tier1 19 0 0.00 16 5 23.81 ENSG00000225411 0 genome.wustl.edu 37 9 68400455 68400455 + RNA SNP C C T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 9 68400455 68400455 C T SNP ENSG00000225411 ENST00000417843 human ensembl 74_37 -1 known rna NULL NULL 0.022 - - - no_errors RP11-764K9.1 Clone_based_vega_gene ENSG00000225411 tier1 rs200320813 - 17 0 0.00 10 5 33.33 ENSG00000228804 0 genome.wustl.edu 37 3 187433420 187433420 + Silent SNP G G A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 3 187433420 187433420 G A SNP ENSG00000228804 ENST00000449623 human ensembl 74_37 +1 putative silent c.21 p.S7 0.000 NULL NULL - no_errors RP11-211G3.3 Clone_based_vega_gene ENSG00000228804 tier1 - - 50 0 0.00 42 4 8.70 ENSG00000264222 0 genome.wustl.edu 37 18 14250402 14250402 + RNA SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 18 14250402 14250402 C A SNP ENSG00000264222 ENST00000580200 human ensembl 74_37 +1 known rna NULL NULL 0.107 - - - no_errors RP11-757O6.1 Clone_based_vega_gene ENSG00000264222 tier1 - - 19 0 0.00 19 4 17.39 ENSG00000267270 0 genome.wustl.edu 37 18 77920429 77920429 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 18 77920429 77920429 G T SNP ENSG00000267270 ENST00000586421 human ensembl 74_37 +1 putative missense c.127 p.G43C 0.001 NULL NULL - no_errors AC139100.2 Clone_based_vega_gene ENSG00000267270 tier1 - - 35 0 0.00 25 4 13.79 ETAA1 0 genome.wustl.edu 37 2 67632308 67632308 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 67632308 67632308 C A SNP ETAA1 ENST00000272342 human ensembl 74_37 +1 known missense c.2494 p.L832I 0.002 NULL NULL - no_errors ETAA1 HGNC ENSG00000143971 74 0 0.00 21 2 8.70 EXOC5 0 genome.wustl.edu 37 14 57710888 57710888 + Nonsense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 14 57710888 57710888 C A SNP EXOC5 ENST00000413566 human ensembl 74_37 -1 known nonsense c.460 p.E154* 1.000 pfam_Sec10-like pfam_Sec10-like - no_errors EXOC5 HGNC ENSG00000070367 50 0 0.00 40 3 6.98 F13A1 0 genome.wustl.edu 37 6 6174842 6174842 + Missense_Mutation SNP G G A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 6 6174842 6174842 G A SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known missense c.1718 p.T573M 0.422 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 tier1 rs113599940 - 89 0 0.00 98 16 14.04 FAM13B 0 genome.wustl.edu 37 5 137289028 137289028 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 137289028 137289028 G T SNP FAM13B ENST00000033079 human ensembl 74_37 -1 known missense c.1779 p.S593R 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 tier1 - - 52 0 0.00 28 4 12.50 FAM198B 0 genome.wustl.edu 37 4 159092463 159092463 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 4 159092463 159092463 C A SNP FAM198B ENST00000393807 human ensembl 74_37 -1 known missense c.65 p.R22L 0.267 NULL NULL - no_errors FAM198B HGNC ENSG00000164125 42 0 0.00 51 3 5.56 FASN 0 genome.wustl.edu 37 17 80039884 80039884 + Splice_Site SNP C C G TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 17 80039884 80039884 C G SNP FASN ENST00000306749 human ensembl 74_37 -1 known splice_site c.6163+1 e35+1 1.000 - - - no_errors FASN HGNC ENSG00000169710 61 0 0.00 49 3 5.66 FBP2 0 genome.wustl.edu 37 9 97321223 97321223 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 9 97321223 97321223 G T SNP FBP2 ENST00000375337 human ensembl 74_37 -1 known missense c.1017 p.S339R 0.963 NULL pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase - no_errors FBP2 HGNC ENSG00000130957 tier1 - - 68 0 0.00 94 5 5.05 FCHO2 0 genome.wustl.edu 37 5 72337134 72337134 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 72337134 72337134 G T SNP FCHO2 ENST00000341845 human ensembl 74_37 +1 known missense c.931 p.D311Y 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO2 HGNC ENSG00000157107 tier1 - - 78 0 0.00 45 4 8.16 FCRL2 0 genome.wustl.edu 37 1 157719458 157719458 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 157719458 157719458 G T SNP FCRL2 ENST00000361516 human ensembl 74_37 -1 known missense c.1289 p.S430Y 0.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL2 HGNC ENSG00000132704 tier1 - - 146 0 0.00 61 4 6.15 FDPS 0 genome.wustl.edu 37 1 155279838 155279838 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 155279838 155279838 C A SNP FDPS ENST00000356657 human ensembl 74_37 +1 known missense c.181 p.L61I 0.621 NULL pfam_Polyprenyl_synt,superfamily_Terpenoid_synth - no_errors FDPS HGNC ENSG00000160752 29 0 0.00 30 2 6.25 FLJ22184 0 genome.wustl.edu 37 19 7935863 7935863 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 19 7935863 7935863 G T SNP FLJ22184 ENST00000539422 human ensembl 74_37 -1 known missense c.2267 p.P756H 0.136 NULL NULL - no_errors CTD-3193O13.9 Clone_based_vega_gene ENSG00000183248 tier1 rs5027409 - 25 0 0.00 46 7 13.21 FLJ40288 0 genome.wustl.edu 37 7 132412309 132412309 + Missense_Mutation SNP T T C TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 7 132412309 132412309 T C SNP FLJ40288 ENST00000332558 human ensembl 74_37 +1 putative missense c.161 p.L54P 0.995 NULL NULL - no_errors AC009365.3 Clone_based_vega_gene ENSG00000183470 tier1 - - 28 0 0.00 39 4 9.30 FLOT2 0 genome.wustl.edu 37 17 27208318 27208318 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 17 27208318 27208318 G T SNP FLOT2 ENST00000394908 human ensembl 74_37 -1 known silent c.990 p.I330 0.927 NULL pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC ENSG00000132589 25 0 0.00 35 2 5.41 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74715180 74715180 + Missense_Mutation SNP C C T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 74715180 74715180 C T SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known missense c.529 p.R177C 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 tier1 - - 40 0 0.00 31 3 8.82 FRY 0 genome.wustl.edu 37 13 32709077 32709077 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 13 32709077 32709077 G T SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.922 p.D308Y 1.000 NULL superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 48 0 0.00 41 3 6.82 FRYL 0 genome.wustl.edu 37 4 48525101 48525101 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 4 48525101 48525101 G T SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.7338 p.F2446L 1.000 NULL superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 tier1 - - 21 0 0.00 13 4 23.53 FTSJ3 0 genome.wustl.edu 37 17 61899155 61899155 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 17 61899155 61899155 C A SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known missense c.1524 p.E508D 0.886 NULL pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 33 0 0.00 25 2 7.41 FZD2 0 genome.wustl.edu 37 17 42636367 42636367 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 17 42636367 42636367 G T SNP FZD2 ENST00000315323 human ensembl 74_37 +1 known silent c.1311 p.S437 0.802 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD2 HGNC ENSG00000180340 12 0 0.00 20 4 16.00 GARNL3 0 genome.wustl.edu 37 9 130117629 130117629 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 9 130117629 130117629 G T SNP GARNL3 ENST00000373387 human ensembl 74_37 +1 known missense c.1813 p.V605F 0.988 pfam_Citron,smart_Citron pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom - no_errors GARNL3 HGNC ENSG00000136895 45 0 0.00 49 3 5.77 GK5 0 genome.wustl.edu 37 3 141923492 141923492 + Frame_Shift_Del DEL A A - TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 3 141923492 141923492 A - DEL GK5 ENST00000487672 human ensembl 74_37 -1 known frame_shift_del c.456 p.L153fs 0.000 NULL pfam_Carb_kinase_FGGY_N - no_errors GK5 HGNC ENSG00000175066 tier1 48 0 0.00 29 5 14.71 GK5 0 genome.wustl.edu 37 3 141944334 141944334 + RNA SNP C C T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 3 141944334 141944334 C T SNP GK5 ENST00000466685 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GK5 HGNC ENSG00000175066 tier1 - - 40 0 0.00 60 4 6.25 GNAI2 0 genome.wustl.edu 37 3 50296406 50296406 + RNA DEL C C - TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 3 50296406 50296406 C - DEL GNAI2 ENST00000491100 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GNAI2 HGNC ENSG00000114353 tier1 22 0 0.00 23 3 11.54 GOLT1A 0 genome.wustl.edu 37 1 204167617 204167617 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 204167617 204167617 C A SNP GOLT1A ENST00000308302 human ensembl 74_37 -1 known missense c.368 p.R123L 0.529 NULL pfam_Vesicle_transpt_Got1/SFT2 - no_errors GOLT1A HGNC ENSG00000174567 tier1 - - 34 0 0.00 44 4 8.33 GPR158 0 genome.wustl.edu 37 10 25883266 25883266 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 10 25883266 25883266 G T SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known silent c.1938 p.L646 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 26 0 0.00 12 2 14.29 GPSM2 0 genome.wustl.edu 37 1 109465146 109465146 + Nonsense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 109465146 109465146 C A SNP GPSM2 ENST00000264126 human ensembl 74_37 +1 known nonsense c.1548 p.C516* 0.000 NULL pfam_GoLoco_motif,pfam_TPR_1,pfam_TPR-4,smart_TPR_repeat,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GPSM2 HGNC ENSG00000121957 tier1 - - 92 0 0.00 65 4 5.80 GREB1L 0 genome.wustl.edu 37 18 18964192 18964192 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 18 18964192 18964192 G T SNP GREB1L ENST00000424526 human ensembl 74_37 +1 known silent c.183 p.L61 1.000 NULL superfamily_P-loop_NTPase - no_errors GREB1L HGNC ENSG00000141449 tier1 - - 82 0 0.00 49 5 9.26 GRID1 0 genome.wustl.edu 37 10 87489302 87489302 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 10 87489302 87489302 G T SNP GRID1 ENST00000327946 human ensembl 74_37 -1 known missense c.1303 p.Q435K 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 tier1 - - 39 0 0.00 24 4 14.29 GSK3A 0 genome.wustl.edu 37 19 42738787 42738787 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 19 42738787 42738787 G T SNP GSK3A ENST00000222330 human ensembl 74_37 -1 known missense c.710 p.S237Y 1.000 pfam_Prot_kinase_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_dom pfam_Prot_kinase_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_dom - no_errors GSK3A HGNC ENSG00000105723 60 0 0.00 46 3 6.12 GUCA1B 0 genome.wustl.edu 37 6 42162358 42162358 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 6 42162358 42162358 C A SNP GUCA1B ENST00000230361 human ensembl 74_37 -1 known missense c.201 p.K67N 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors GUCA1B HGNC ENSG00000112599 33 0 0.00 36 3 7.69 HEG1 0 genome.wustl.edu 37 3 124729390 124729390 + Missense_Mutation SNP C C G TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 3 124729390 124729390 C G SNP HEG1 ENST00000311127 human ensembl 74_37 -1 known missense c.2966 p.C989S 0.971 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 tier1 - - 29 0 0.00 41 6 12.77 HNMT 0 genome.wustl.edu 37 2 138758583 138758583 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 138758583 138758583 G T SNP HNMT ENST00000280097 human ensembl 74_37 +1 known missense c.286 p.A96S 0.000 pfam_Methyltransf_12,pirsf_Histamine_N-methyltransferase pfam_Methyltransf_12,pirsf_Histamine_N-methyltransferase - no_errors HNMT HGNC ENSG00000150540 tier1 - - 41 0 0.00 7 3 30.00 HNRNPLL 0 genome.wustl.edu 37 2 38809033 38809033 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 38809033 38809033 C A SNP HNRNPLL ENST00000410076 human ensembl 74_37 -1 known missense c.809 p.R270I 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPLL HGNC ENSG00000143889 tier1 - - 92 0 0.00 60 4 6.25 HYOU1 0 genome.wustl.edu 37 11 118925720 118925720 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 11 118925720 118925720 G T SNP HYOU1 ENST00000404233 human ensembl 74_37 -1 known missense c.472 p.R158S 0.996 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 38 0 0.00 47 3 6.00 IGFL3 0 genome.wustl.edu 37 19 46627241 46627241 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 19 46627241 46627241 G T SNP IGFL3 ENST00000341415 human ensembl 74_37 -1 known silent c.252 p.P84 0.142 NULL NULL - no_errors IGFL3 HGNC ENSG00000188624 26 0 0.00 29 2 6.45 IPP 0 genome.wustl.edu 37 1 46179999 46179999 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 46179999 46179999 G T SNP IPP ENST00000396478 human ensembl 74_37 -1 known silent c.1449 p.L483 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors IPP HGNC ENSG00000197429 54 0 0.00 61 4 6.15 ITGA10 0 genome.wustl.edu 37 1 145527655 145527655 + Missense_Mutation SNP T T C TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 145527655 145527655 T C SNP ITGA10 ENST00000369304 human ensembl 74_37 +1 known missense c.95 p.L32P 0.879 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 tier1 - - 43 0 0.00 70 5 6.67 ITPR3 0 genome.wustl.edu 37 6 33662731 33662731 + Silent SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 6 33662731 33662731 C A SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known silent c.7816 p.R2606 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 tier1 - - 28 0 0.00 38 4 9.52 JMJD1C 0 genome.wustl.edu 37 10 64946091 64946091 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 10 64946091 64946091 G T SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.6623 p.A2208E 0.998 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 31 0 0.00 30 2 6.25 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42133048 42133048 + Missense_Mutation SNP C C T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 15 42133048 42133048 C T SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known missense c.989 p.A330V 0.403 superfamily_C2_dom,smart_C2_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 24 0 0.00 23 2 8.00 KCNG3 0 genome.wustl.edu 37 2 42671718 42671718 + Missense_Mutation SNP T T G TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 42671718 42671718 T G SNP KCNG3 ENST00000306078 human ensembl 74_37 -1 known missense c.667 p.I223L 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG3 HGNC ENSG00000171126 48 0 0.00 33 3 8.33 KIAA2018 0 genome.wustl.edu 37 3 113378995 113378995 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 3 113378995 113378995 G T SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.1534 p.Q512K 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 tier1 - - 53 0 0.00 56 4 6.67 KIF20B 0 genome.wustl.edu 37 10 91498738 91498738 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 10 91498738 91498738 G T SNP KIF20B ENST00000416354 human ensembl 74_37 +1 known missense c.3890 p.S1297I 0.986 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF20B HGNC ENSG00000138182 tier1 - - 59 0 0.00 23 3 11.54 KIF25 0 genome.wustl.edu 37 6 168439399 168439399 + Silent SNP C C T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 6 168439399 168439399 C T SNP KIF25 ENST00000354419 human ensembl 74_37 +1 known silent c.484 p.L162 0.503 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF25 HGNC ENSG00000125337 49 0 0.00 56 4 6.67 KMT2D 0 genome.wustl.edu 37 12 49427264 49427264 + Nonsense_Mutation SNP G G A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 12 49427264 49427264 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known nonsense c.11224 p.Q3742* 0.998 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 tier1 - - 50 0 0.00 45 9 16.67 KRIT1 0 genome.wustl.edu 37 7 91865794 91865794 + Nonsense_Mutation SNP G G A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 7 91865794 91865794 G A SNP KRIT1 ENST00000340022 human ensembl 74_37 -1 known nonsense c.418 p.R140* 1.000 NULL pfam_FERM_central,superfamily_Ankyrin_rpt-contain_dom,superfamily_FERM_central,smart_Ankyrin_rpt,smart_Band_41_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_FERM_domain - no_errors KRIT1 HGNC ENSG00000001631 86 0 0.00 38 2 5.00 L3MBTL1 0 genome.wustl.edu 37 20 42144758 42144758 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 20 42144758 42144758 C A SNP L3MBTL1 ENST00000418998 human ensembl 74_37 +1 known missense c.737 p.P246Q 0.348 NULL pfam_Mbt,pfam_Znf_C2HC,superfamily_SAM/pointed,smart_Mbt,pfscan_Mbt - no_errors L3MBTL1 HGNC ENSG00000185513 tier1 - - 39 0 0.00 52 4 7.14 LOC100293748 0 genome.wustl.edu 37 1 149262995 149262995 + RNA SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 149262995 149262995 C A SNP LOC100293748 ENST00000325963 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-403I13.4 Clone_based_vega_gene ENSG00000223779 tier1 - - 117 0 0.00 75 10 11.76 LOC440905 0 genome.wustl.edu 37 2 130807905 130807905 + RNA SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 130807905 130807905 G T SNP LOC440905 ENST00000325390 human ensembl 74_37 -1 known rna NULL NULL 0.233 - - - no_errors AC018865.8 Clone_based_vega_gene ENSG00000180178 tier1 rs201541587 - 26 0 0.00 26 5 16.13 LRRK2 0 genome.wustl.edu 37 12 40645141 40645141 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 12 40645141 40645141 G T SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.1066 p.A356S 0.988 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 106 0 0.00 29 3 9.38 LYSMD4 0 genome.wustl.edu 37 15 100272100 100272100 + Missense_Mutation SNP C C T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 15 100272100 100272100 C T SNP LYSMD4 ENST00000344791 human ensembl 74_37 -1 known missense c.17 p.R6Q 0.017 NULL NULL - no_errors LYSMD4 HGNC ENSG00000183060 tier1 - - 81 0 0.00 78 5 6.02 MAGEL2 0 genome.wustl.edu 37 15 23890704 23890704 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 15 23890704 23890704 C A SNP MAGEL2 ENST00000532292 human ensembl 74_37 -1 known missense c.377 p.R126M 0.021 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 tier1 - - 47 0 0.00 43 4 8.51 MAMDC2 0 genome.wustl.edu 37 9 72840711 72840711 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 9 72840711 72840711 G T SNP MAMDC2 ENST00000377182 human ensembl 74_37 +1 known missense c.1957 p.A653S 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom - no_errors MAMDC2 HGNC ENSG00000165072 72 0 0.00 27 2 6.90 MAP1B 0 genome.wustl.edu 37 5 71490959 71490959 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 71490959 71490959 C A SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known missense c.1777 p.P593T 1.000 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 tier1 - - 66 0 0.00 45 4 8.16 MAP3K13 0 genome.wustl.edu 37 3 185165697 185165697 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 3 185165697 185165697 G T SNP MAP3K13 ENST00000265026 human ensembl 74_37 +1 known silent c.972 p.V324 1.000 pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K13 HGNC ENSG00000073803 51 0 0.00 37 2 5.13 MARCH6 0 genome.wustl.edu 37 5 10410323 10410323 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 10410323 10410323 G T SNP MARCH6 ENST00000274140 human ensembl 74_37 +1 known missense c.1626 p.Q542H 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 tier1 - - 38 0 0.00 44 4 8.33 MDGA2 0 genome.wustl.edu 37 14 47613427 47613427 + Nonsense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 14 47613427 47613427 C A SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known nonsense c.646 p.E216* 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 tier1 - - 87 0 0.00 10 3 23.08 MDN1 0 genome.wustl.edu 37 6 90422466 90422466 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 6 90422466 90422466 G T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.7258 p.R2420 0.065 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 27 0 0.00 32 2 5.88 MEIS3 0 genome.wustl.edu 37 19 47920526 47920526 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 19 47920526 47920526 G T SNP MEIS3 ENST00000559524 human ensembl 74_37 -1 known missense c.94 p.P32T 0.641 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS3 HGNC ENSG00000105419 tier1 - - 74 0 0.00 97 6 5.83 MFN2 0 genome.wustl.edu 37 1 12061834 12061834 + Missense_Mutation SNP C C G TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 12061834 12061834 C G SNP MFN2 ENST00000235329 human ensembl 74_37 +1 known missense c.979 p.L327V 0.997 superfamily_P-loop_NTPase pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors MFN2 HGNC ENSG00000116688 24 0 0.00 36 3 7.69 MFRP 0 genome.wustl.edu 37 11 119215692 119215692 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 11 119215692 119215692 G T SNP MFRP ENST00000449574 human ensembl 74_37 -1 known missense c.664 p.P222T 0.860 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 tier1 - - 49 0 0.00 40 4 9.09 MMD2 0 genome.wustl.edu 37 7 4965122 4965122 + Missense_Mutation SNP G G A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 7 4965122 4965122 G A SNP MMD2 ENST00000404774 human ensembl 74_37 -1 known missense c.89 p.P30L 1.000 NULL pfam_HlyIII-related - no_errors MMD2 HGNC ENSG00000136297 23 0 0.00 38 2 5.00 MMP16 0 genome.wustl.edu 37 8 89068411 89068411 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 8 89068411 89068411 C A SNP MMP16 ENST00000286614 human ensembl 74_37 -1 known missense c.1318 p.D440Y 1.000 pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP16 HGNC ENSG00000156103 tier1 - - 104 0 0.00 62 4 6.06 MPZL2 0 genome.wustl.edu 37 11 118133240 118133240 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 11 118133240 118133240 C A SNP MPZL2 ENST00000438295 human ensembl 74_37 -1 known missense c.349 p.D117Y 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Myelin_P0 - no_errors MPZL2 HGNC ENSG00000149573 60 0 0.00 48 3 5.88 MRPS11 0 genome.wustl.edu 37 15 89018469 89018469 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 15 89018469 89018469 C A SNP MRPS11 ENST00000325844 human ensembl 74_37 +1 known missense c.410 p.A137E 0.005 pfam_Ribosomal_S11 pfam_Ribosomal_S11 - no_errors MRPS11 HGNC ENSG00000181991 tier1 - - 44 0 0.00 68 5 6.85 MYH3 0 genome.wustl.edu 37 17 10543029 10543029 + Nonsense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 17 10543029 10543029 C A SNP MYH3 ENST00000226209 human ensembl 74_37 -1 known nonsense c.2773 p.E925* 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH3 HGNC ENSG00000109063 tier1 - - 63 0 0.00 53 4 7.02 NAGS 0 genome.wustl.edu 37 17 42084768 42084768 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 17 42084768 42084768 G T SNP NAGS ENST00000293404 human ensembl 74_37 +1 known missense c.1174 p.V392L 0.995 pfam_DUF619,superfamily_Acyl_CoA_acyltransferase,pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom pfam_DUF619,superfamily_Asp/Glu/Uridylate_kinase,superfamily_Acyl_CoA_acyltransferase,pirsf_GlcNAc_Synth_met,pfscan_GNAT_dom - no_errors NAGS HGNC ENSG00000161653 76 0 0.00 75 4 5.06 NDC80 0 genome.wustl.edu 37 18 2616470 2616470 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 18 2616470 2616470 G T SNP NDC80 ENST00000261597 human ensembl 74_37 +1 known missense c.1826 p.R609I 0.982 NULL pfam_Kinetochore_Ndc80,superfamily_t-SNARE - no_errors NDC80 HGNC ENSG00000080986 tier1 - - 65 0 0.00 30 3 9.09 NDN 0 genome.wustl.edu 37 15 23932244 23932244 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 15 23932244 23932244 G T SNP NDN ENST00000331837 human ensembl 74_37 -1 known missense c.121 p.P41T 0.008 NULL pfam_MAGE,pfscan_MAGE - no_errors NDN HGNC ENSG00000182636 10 0 0.00 15 2 11.76 NLGN3 0 genome.wustl.edu 37 X 70386937 70386937 + Silent SNP C C T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f X 70386937 70386937 C T SNP NLGN3 ENST00000358741 human ensembl 74_37 +1 known silent c.990 p.Y330 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN3 HGNC ENSG00000196338 10 0 0.00 22 4 15.38 NLRC3 0 genome.wustl.edu 37 16 3613868 3613868 + Frame_Shift_Del DEL G G - TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 16 3613868 3613868 G - DEL NLRC3 ENST00000448023 human ensembl 74_37 -1 known frame_shift_del c.1211 p.P404fs 0.989 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 tier1 24 0 0.00 37 2 5.13 NOTCH1 0 genome.wustl.edu 37 9 139397632 139397632 + Splice_Site SNP A A G TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 9 139397632 139397632 A G SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known splice_site c.5167+2 e27+2 1.000 - - - no_errors NOTCH1 HGNC ENSG00000148400 tier1 - - 80 0 0.00 117 17 12.59 NOTCH4 0 genome.wustl.edu 37 6 32181562 32181562 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 6 32181562 32181562 G T SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known silent c.2223 p.G741 0.988 pirsf_Notch,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 35 0 0.00 52 3 5.45 NSD1 0 genome.wustl.edu 37 5 176721258 176721258 + Missense_Mutation SNP A A G TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 176721258 176721258 A G SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.6889 p.R2297G 0.999 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 tier1 - - 47 0 0.00 42 4 8.70 NSRP1 0 genome.wustl.edu 37 17 28511766 28511766 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 17 28511766 28511766 G T SNP NSRP1 ENST00000247026 human ensembl 74_37 +1 known missense c.751 p.D251Y 0.994 NULL pfam_DUF2040 - no_errors NSRP1 HGNC ENSG00000126653 54 0 0.00 38 2 5.00 ODF2 0 genome.wustl.edu 37 9 131260845 131260845 + Silent SNP G G A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 9 131260845 131260845 G A SNP ODF2 ENST00000434106 human ensembl 74_37 +1 known silent c.2166 p.A722 0.989 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 55 0 0.00 62 4 6.06 OSR2 0 genome.wustl.edu 37 8 99962900 99962900 + Nonsense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 8 99962900 99962900 G T SNP OSR2 ENST00000457907 human ensembl 74_37 +1 known nonsense c.1036 p.E346* 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR2 HGNC ENSG00000164920 tier1 - - 63 0 0.00 69 4 5.48 PAGE1 0 genome.wustl.edu 37 X 49458733 49458733 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f X 49458733 49458733 C A SNP PAGE1 ENST00000376150 human ensembl 74_37 -1 known missense c.135 p.E45D 0.002 pfam_GAGE pfam_GAGE - no_errors PAGE1 HGNC ENSG00000068985 tier1 - - 59 0 0.00 60 4 6.25 PATL2 0 genome.wustl.edu 37 15 44960587 44960587 + Missense_Mutation SNP G G A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 15 44960587 44960587 G A SNP PATL2 ENST00000434130 human ensembl 74_37 -1 known missense c.1318 p.P440S 0.058 pfam_Topo_II-assoc_PAT1 pfam_Topo_II-assoc_PAT1 - no_errors PATL2 HGNC ENSG00000229474 30 0 0.00 69 4 5.48 PCDHA6 0 genome.wustl.edu 37 5 140209088 140209088 + Missense_Mutation SNP G G A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 140209088 140209088 G A SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known missense c.1412 p.G471D 0.969 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 tier1 - - 124 0 0.00 150 17 10.18 PCDHB11 0 genome.wustl.edu 37 5 140580114 140580114 + Missense_Mutation SNP T T C TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 140580114 140580114 T C SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.767 p.I256T 0.000 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 tier1 - - 59 0 0.00 59 5 7.81 PCDHGB2 0 genome.wustl.edu 37 5 140741884 140741884 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 140741884 140741884 C A SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known missense c.2182 p.Q728K 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB2 HGNC ENSG00000253910 56 0 0.00 34 2 5.56 PCDHGB7 0 genome.wustl.edu 37 5 140799687 140799687 + Missense_Mutation SNP T T C TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 140799687 140799687 T C SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known missense c.2261 p.F754S 0.177 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 tier1 - - 50 0 0.00 57 4 6.56 PDE1A 0 genome.wustl.edu 37 2 183106660 183106660 + RNA SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 183106660 183106660 G T SNP PDE1A ENST00000482538 human ensembl 74_37 -1 known rna NULL NULL 0.022 - - - no_errors PDE1A HGNC ENSG00000115252 tier1 - - 65 0 0.00 32 4 11.11 PGBD3 0 genome.wustl.edu 37 10 50724704 50724704 + Nonsense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 10 50724704 50724704 C A SNP PGBD3 ENST00000603152 human ensembl 74_37 -1 known nonsense c.1861 p.E621* 0.096 NULL NULL - no_errors PGBD3 HGNC ENSG00000243251 50 0 0.00 40 3 6.98 PHAX 0 genome.wustl.edu 37 5 125939613 125939613 + Nonsense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 125939613 125939613 G T SNP PHAX ENST00000297540 human ensembl 74_37 +1 known nonsense c.448 p.E150* 1.000 NULL pfam_PHAX_RNA-binding_domain - no_errors PHAX HGNC ENSG00000164902 tier1 - - 40 0 0.00 41 4 8.89 PHF3 0 genome.wustl.edu 37 6 64404642 64404642 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 6 64404642 64404642 G T SNP PHF3 ENST00000262043 human ensembl 74_37 +1 known missense c.2668 p.A890S 0.488 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 tier1 - - 112 0 0.00 80 5 5.88 PI4KA 0 genome.wustl.edu 37 22 21083684 21083684 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 22 21083684 21083684 G T SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known silent c.4599 p.I1533 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 tier1 - - 70 0 0.00 60 4 6.25 PLA2G15 0 genome.wustl.edu 37 16 68289243 68289243 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 16 68289243 68289243 G T SNP PLA2G15 ENST00000219345 human ensembl 74_37 +1 known missense c.462 p.E154D 0.997 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors PLA2G15 HGNC ENSG00000103066 tier1 - - 69 0 0.00 54 4 6.90 PLEKHD1 0 genome.wustl.edu 37 14 69968464 69968464 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 14 69968464 69968464 G T SNP PLEKHD1 ENST00000322564 human ensembl 74_37 +1 known missense c.424 p.A142S 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHD1 HGNC ENSG00000175985 tier1 - - 57 0 0.00 71 4 5.33 PLVAP 0 genome.wustl.edu 37 19 17487777 17487777 + Silent SNP G G A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 19 17487777 17487777 G A SNP PLVAP ENST00000252590 human ensembl 74_37 -1 known silent c.321 p.R107 0.039 pfam_PV-1 pfam_PV-1 - no_errors PLVAP HGNC ENSG00000130300 20 0 0.00 30 2 6.25 PLXNB2 0 genome.wustl.edu 37 22 50728337 50728337 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 22 50728337 50728337 G T SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.677 p.P226H 0.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB2 HGNC ENSG00000196576 tier1 - - 35 0 0.00 38 4 9.52 PMS2CL 0 genome.wustl.edu 37 7 6791040 6791040 + RNA SNP G G C TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 7 6791040 6791040 G C SNP PMS2CL ENST00000486256 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PMS2CL HGNC ENSG00000187953 tier1 rs199677566 - 28 0 0.00 34 17 33.33 POC5 0 genome.wustl.edu 37 5 74988260 74988260 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 74988260 74988260 G T SNP POC5 ENST00000428202 human ensembl 74_37 -1 known missense c.756 p.F252L 1.000 NULL NULL - no_errors POC5 HGNC ENSG00000152359 30 0 0.00 24 2 7.69 POTEH 0 genome.wustl.edu 37 22 16277775 16277775 + Missense_Mutation SNP T T C TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 22 16277775 16277775 T C SNP POTEH ENST00000343518 human ensembl 74_37 -1 known missense c.1139 p.E380G 0.027 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEH HGNC ENSG00000198062 tier1 rs201571982 - 22 0 0.00 6 4 40.00 POU3F3 0 genome.wustl.edu 37 2 105473304 105473304 + Nonsense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 105473304 105473304 G T SNP POU3F3 ENST00000361360 human ensembl 74_37 +1 known nonsense c.1336 p.E446* 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F3 HGNC ENSG00000198914 tier1 - - 50 0 0.00 64 4 5.88 PPIL4 0 genome.wustl.edu 37 6 149847910 149847910 + Silent SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 6 149847910 149847910 C A SNP PPIL4 ENST00000253329 human ensembl 74_37 -1 known silent c.681 p.V227 0.997 NULL pfam_Cyclophilin-like_PPIase_dom,pfam_RRM_dom,superfamily_Cyclophilin-like_PPIase_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL4 HGNC ENSG00000131013 38 0 0.00 28 2 6.67 PPL 0 genome.wustl.edu 37 16 4935090 4935090 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 16 4935090 4935090 G T SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.3566 p.A1189E 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 18 0 0.00 18 2 10.00 PQLC2 0 genome.wustl.edu 37 1 19653743 19653743 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 19653743 19653743 G T SNP PQLC2 ENST00000375153 human ensembl 74_37 +1 known missense c.641 p.G214V 1.000 smart_CTNS superfamily_MFS_dom_general_subst_transpt,smart_CTNS - no_errors PQLC2 HGNC ENSG00000040487 47 0 0.00 47 4 7.84 PRDM6 0 genome.wustl.edu 37 5 122435621 122435621 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 122435621 122435621 G T SNP PRDM6 ENST00000407847 human ensembl 74_37 +1 known missense c.865 p.A289S 0.988 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM6 HGNC ENSG00000061455 23 0 0.00 37 5 11.90 PRKCD 0 genome.wustl.edu 37 3 53215231 53215231 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 3 53215231 53215231 G T SNP PRKCD ENST00000330452 human ensembl 74_37 +1 known silent c.324 p.L108 0.990 superfamily_C2_dom,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCD HGNC ENSG00000163932 tier1 - - 30 0 0.00 43 4 8.51 PROCR 0 genome.wustl.edu 37 20 33762569 33762569 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 20 33762569 33762569 G T SNP PROCR ENST00000216968 human ensembl 74_37 +1 known missense c.135 p.Q45H 0.916 superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog - no_errors PROCR HGNC ENSG00000101000 tier1 - - 58 0 0.00 63 4 5.97 PRRT4 0 genome.wustl.edu 37 7 127999678 127999678 + Missense_Mutation SNP C C T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 7 127999678 127999678 C T SNP PRRT4 ENST00000446477 human ensembl 74_37 -1 known missense c.368 p.R123Q 0.524 NULL NULL - no_errors PRRT4 HGNC ENSG00000224940 tier1 - - 58 0 0.00 48 7 12.73 PRTN3 0 genome.wustl.edu 37 19 847929 847929 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 19 847929 847929 G T SNP PRTN3 ENST00000234347 human ensembl 74_37 +1 known missense c.731 p.R244L 0.001 superfamily_Trypsin-like_Pept_dom,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRTN3 HGNC ENSG00000196415 15 0 0.00 26 3 10.34 PSMC4 0 genome.wustl.edu 37 19 40486575 40486575 + Missense_Mutation SNP C C T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 19 40486575 40486575 C T SNP PSMC4 ENST00000157812 human ensembl 74_37 +1 known missense c.1094 p.A365V 1.000 superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC4 HGNC ENSG00000013275 53 0 0.00 70 4 5.41 PTPRO 0 genome.wustl.edu 37 12 15747947 15747947 + Missense_Mutation SNP T T C TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 12 15747947 15747947 T C SNP PTPRO ENST00000281171 human ensembl 74_37 +1 known missense c.3623 p.V1208A 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRO HGNC ENSG00000151490 39 0 0.00 26 2 7.14 RAB17 0 genome.wustl.edu 37 2 238486700 238486700 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 238486700 238486700 G T SNP RAB17 ENST00000264601 human ensembl 74_37 -1 known missense c.256 p.L86I 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,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 RAB17 HGNC ENSG00000124839 tier1 - - 46 0 0.00 45 4 8.16 RBM27 0 genome.wustl.edu 37 5 145647319 145647320 + Frame_Shift_Ins INS - - A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 145647319 145647320 - A INS RBM27 ENST00000265271 human ensembl 74_37 +1 known frame_shift_ins c.2439_2440 p.Q816fs 1.000:1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 tier1 72 0 0.00 41 6 12.77 RBM47 0 genome.wustl.edu 37 4 40428047 40428047 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 4 40428047 40428047 G T SNP RBM47 ENST00000295971 human ensembl 74_37 -1 known silent c.1656 p.I552 0.993 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 41 0 0.00 30 2 6.25 RERE 0 genome.wustl.edu 37 1 8420002 8420002 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 8420002 8420002 G T SNP RERE ENST00000337907 human ensembl 74_37 -1 known missense c.3440 p.T1147K 1.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 50 0 0.00 56 3 5.08 RGAG4 0 genome.wustl.edu 37 X 71349976 71349976 + Missense_Mutation SNP G G C TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f X 71349976 71349976 G C SNP RGAG4 ENST00000479991 human ensembl 74_37 -1 known missense c.1415 p.P472R 0.003 NULL pfam_Retrotrans_gag_dom - no_errors RGAG4 HGNC ENSG00000242732 tier1 - - 31 0 0.00 31 4 11.43 RNF217 0 genome.wustl.edu 37 6 125284478 125284478 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 6 125284478 125284478 G T SNP RNF217 ENST00000560949 human ensembl 74_37 +1 known missense c.83 p.C28F 1.000 NULL pfam_Znf_C6HC,smart_Znf_C6HC - no_errors RNF217 HGNC ENSG00000146373 tier1 - - 31 0 0.00 33 4 10.81 ROR2 0 genome.wustl.edu 37 9 94485362 94485362 + RNA SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 9 94485362 94485362 C A SNP ROR2 ENST00000550066 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ROR2 HGNC ENSG00000169071 tier1 - - 32 0 0.00 30 4 11.76 RREB1 0 genome.wustl.edu 37 6 7246768 7246768 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 6 7246768 7246768 G T SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.4085 p.G1362V 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 tier1 - - 27 0 0.00 23 4 14.81 SACM1L 0 genome.wustl.edu 37 3 45761072 45761072 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 3 45761072 45761072 G T SNP SACM1L ENST00000389061 human ensembl 74_37 +1 known missense c.658 p.G220C 1.000 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfscan_Syja_N - no_errors SACM1L HGNC ENSG00000211456 tier1 - - 63 0 0.00 44 4 8.33 SCD5 0 genome.wustl.edu 37 4 83557883 83557883 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 4 83557883 83557883 G T SNP SCD5 ENST00000319540 human ensembl 74_37 -1 known missense c.663 p.F221L 0.937 pfam_Fatty_acid_desaturase-1 pfam_Fatty_acid_desaturase-1,prints_Fatty_acid_desaturase-1_core - no_errors SCD5 HGNC ENSG00000145284 tier1 - - 47 0 0.00 55 4 6.78 SCO2 0 genome.wustl.edu 37 22 50962417 50962417 + Nonsense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 22 50962417 50962417 C A SNP SCO2 ENST00000252785 human ensembl 74_37 -1 known nonsense c.424 p.E142* 1.000 pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 pfam_SCO1/SenC,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2 - no_errors SCO2 HGNC ENSG00000130489 tier1 - - 46 0 0.00 67 4 5.63 SECISBP2L 0 genome.wustl.edu 37 15 49319645 49319645 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 15 49319645 49319645 C A SNP SECISBP2L ENST00000559471 human ensembl 74_37 -1 known missense c.952 p.A318S 1.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 tier1 - - 47 0 0.00 27 3 10.00 SETBP1 0 genome.wustl.edu 37 18 42643239 42643239 + Missense_Mutation SNP G G A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 18 42643239 42643239 G A SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.4367 p.R1456H 1.000 smart_AT_hook_DNA-bd_motif smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 tier1 - - 12 0 0.00 19 5 20.83 SLC12A1 0 genome.wustl.edu 37 15 48537005 48537005 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 15 48537005 48537005 G T SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known silent c.1356 p.G452 0.972 pfam_AA-permease/SLC12A_dom,prints_Na/K/Cl_cotranspt2,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 tier1 - - 43 0 0.00 53 4 7.02 SLC16A6 0 genome.wustl.edu 37 17 66267470 66267470 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 17 66267470 66267470 G T SNP SLC16A6 ENST00000327268 human ensembl 74_37 -1 known missense c.831 p.S277R 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A6 HGNC ENSG00000108932 tier1 - - 70 0 0.00 69 4 5.48 SLC17A6 0 genome.wustl.edu 37 11 22399084 22399084 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 11 22399084 22399084 G T SNP SLC17A6 ENST00000263160 human ensembl 74_37 +1 known missense c.1547 p.C516F 1.000 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A6 HGNC ENSG00000091664 tier1 - - 41 0 0.00 32 5 13.51 SLC23A2 0 genome.wustl.edu 37 20 4850569 4850569 + Frame_Shift_Del DEL G G - TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 20 4850569 4850569 G - DEL SLC23A2 ENST00000338244 human ensembl 74_37 -1 known frame_shift_del c.1233 p.I412fs 0.974 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A2 HGNC ENSG00000089057 tier1 36 0 0.00 25 4 13.79 SLC4A3 0 genome.wustl.edu 37 2 220505562 220505562 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 220505562 220505562 G T SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known missense c.3580 p.A1194S 0.940 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 27 0 0.00 49 3 5.77 SLIT3 0 genome.wustl.edu 37 5 168112909 168112909 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 168112909 168112909 G T SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.3338 p.P1113Q 0.999 NULL pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 38 0 0.00 47 3 6.00 SLX4 0 genome.wustl.edu 37 16 3647636 3647636 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 16 3647636 3647636 G T SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.1427 p.S476Y 0.202 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 tier1 - - 89 0 0.00 71 7 8.97 SMCHD1 0 genome.wustl.edu 37 18 2739474 2739474 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 18 2739474 2739474 G T SNP SMCHD1 ENST00000320876 human ensembl 74_37 +1 known missense c.3470 p.G1157V 1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 tier1 - - 67 0 0.00 14 3 17.65 SNED1 0 genome.wustl.edu 37 2 242009498 242009498 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 242009498 242009498 G T SNP SNED1 ENST00000310397 human ensembl 74_37 +1 known silent c.3471 p.A1157 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_EG-like_dom,pfam_Fibronectin_type3,pfam_Nidogen_extracell_dom,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_Fibronectin_type3,superfamily_Sushi_SCR_CCP,smart_Nidogen_extracell_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Fibronectin_type3,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Sushi_SCR_CCP - no_errors SNED1 HGNC ENSG00000162804 tier1 - - 60 0 0.00 93 6 6.06 SOS1 0 genome.wustl.edu 37 2 39213416 39213416 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 39213416 39213416 G T SNP SOS1 ENST00000402219 human ensembl 74_37 -1 known missense c.3551 p.P1184H 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 109 0 0.00 24 2 7.69 SPATA7 0 genome.wustl.edu 37 14 88904395 88904395 + Missense_Mutation SNP G G A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 14 88904395 88904395 G A SNP SPATA7 ENST00000393545 human ensembl 74_37 +1 known missense c.1429 p.A477T 0.000 NULL NULL - no_errors SPATA7 HGNC ENSG00000042317 56 0 0.00 35 2 5.41 SPEF2 0 genome.wustl.edu 37 5 35705819 35705819 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 35705819 35705819 G T SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.2574 p.L858F 0.998 superfamily_P-loop_NTPase pfam_DUF1042,pfam_Adenylate_kin,pfam_HATC_dom_C,superfamily_P-loop_NTPase,superfamily_CH-domain,pfscan_CH-domain - no_errors SPEF2 HGNC ENSG00000152582 tier1 - - 54 0 0.00 13 3 18.75 SSH2 0 genome.wustl.edu 37 17 27963457 27963457 + Nonsense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 17 27963457 27963457 G T SNP SSH2 ENST00000269033 human ensembl 74_37 -1 known nonsense c.1710 p.C570* 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_DEK_C,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors SSH2 HGNC ENSG00000141298 59 0 0.00 51 3 5.56 ST3GAL1 0 genome.wustl.edu 37 8 134488167 134488167 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 8 134488167 134488167 G T SNP ST3GAL1 ENST00000319914 human ensembl 74_37 -1 known missense c.101 p.A34D 0.088 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL1 HGNC ENSG00000008513 tier1 - - 48 0 0.00 65 5 7.14 SYCP1 0 genome.wustl.edu 37 1 115398163 115398163 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 115398163 115398163 G T SNP SYCP1 ENST00000369518 human ensembl 74_37 +1 known missense c.78 p.Q26H 0.996 NULL pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 tier1 - - 89 0 0.00 74 4 5.13 SYNDIG1L 0 genome.wustl.edu 37 14 74874689 74874689 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 14 74874689 74874689 C A SNP SYNDIG1L ENST00000331628 human ensembl 74_37 -1 known missense c.421 p.D141Y 1.000 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1L HGNC ENSG00000183379 tier1 - - 34 0 0.00 55 4 6.78 TACR3 0 genome.wustl.edu 37 4 104640394 104640394 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 4 104640394 104640394 G T SNP TACR3 ENST00000304883 human ensembl 74_37 -1 known missense c.439 p.L147I 0.971 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK3_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK1_rcpt - no_errors TACR3 HGNC ENSG00000169836 tier1 - - 32 0 0.00 48 4 7.69 TADA2B 0 genome.wustl.edu 37 4 7055887 7055887 + Nonsense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 4 7055887 7055887 C A SNP TADA2B ENST00000310074 human ensembl 74_37 +1 known nonsense c.369 p.C123* 1.000 pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 64 0 0.00 68 4 5.56 TAF1 0 genome.wustl.edu 37 X 70598241 70598241 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f X 70598241 70598241 G T SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.1087 p.D363Y 1.000 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 33 0 0.00 36 4 10.00 TAF3 0 genome.wustl.edu 37 10 8006695 8006695 + Nonsense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 10 8006695 8006695 G T SNP TAF3 ENST00000344293 human ensembl 74_37 +1 known nonsense c.1222 p.E408* 0.992 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 41 0 0.00 33 2 5.71 TARBP1 0 genome.wustl.edu 37 1 234528170 234528170 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 234528170 234528170 G T SNP TARBP1 ENST00000040877 human ensembl 74_37 -1 novel silent c.4689 p.L1563 0.199 pfam_SpoU_MeTrfase pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 tier1 - - 80 0 0.00 72 4 5.19 TAS2R40 0 genome.wustl.edu 37 7 142919701 142919701 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 7 142919701 142919701 C A SNP TAS2R40 ENST00000408947 human ensembl 74_37 +1 known missense c.530 p.S177Y 0.003 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R40 HGNC ENSG00000221937 tier1 - - 40 0 0.00 23 3 11.54 TBC1D8B 0 genome.wustl.edu 37 X 106109160 106109160 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f X 106109160 106109160 G T SNP TBC1D8B ENST00000357242 human ensembl 74_37 +1 known missense c.2559 p.W853C 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 tier1 - - 40 0 0.00 36 4 10.00 TCF4 0 genome.wustl.edu 37 18 53018130 53018130 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 18 53018130 53018130 C A SNP TCF4 ENST00000398339 human ensembl 74_37 -1 known missense c.780 p.R260S 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF4 HGNC ENSG00000196628 tier1 - - 66 0 0.00 12 4 25.00 TEAD3 0 genome.wustl.edu 37 6 35454368 35454368 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 6 35454368 35454368 G T SNP TEAD3 ENST00000402886 human ensembl 74_37 -1 novel missense c.20 p.T7K 1.000 pirsf_TEF pfam_TEA/ATTS,pirsf_TEF - no_errors TEAD3 HGNC ENSG00000007866 46 0 0.00 68 4 5.56 TENM4 0 genome.wustl.edu 37 11 78381549 78381549 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 11 78381549 78381549 G T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.5841 p.F1947L 0.901 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 18 0 0.00 16 2 11.11 THG1L 0 genome.wustl.edu 37 5 157158604 157158604 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 157158604 157158604 G T SNP THG1L ENST00000231198 human ensembl 74_37 +1 known missense c.156 p.W52C 1.000 pfam_tRNAHis_GuaTrfase_cat,pirsf_tRNAHis_GuaTrfase_Thg1 pfam_tRNAHis_GuaTrfase_cat,superfamily_Restrct_endonuc-II-like,pirsf_tRNAHis_GuaTrfase_Thg1 - no_errors THG1L HGNC ENSG00000113272 48 0 0.00 38 4 9.52 TM4SF20 0 genome.wustl.edu 37 2 228228650 228228650 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 228228650 228228650 G T SNP TM4SF20 ENST00000304568 human ensembl 74_37 -1 known silent c.480 p.P160 0.000 pfam_L6_membrane pfam_L6_membrane - no_errors TM4SF20 HGNC ENSG00000168955 tier1 - - 61 0 0.00 42 4 8.70 TMEM106A 0 genome.wustl.edu 37 17 41365224 41365224 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 17 41365224 41365224 G T SNP TMEM106A ENST00000331615 human ensembl 74_37 +1 known missense c.164 p.S55I 0.607 pfam_DUF1356_TMEM106 pfam_DUF1356_TMEM106 - no_errors TMEM106A HGNC ENSG00000184988 tier1 - - 54 0 0.00 53 4 7.02 TMEM132E 0 genome.wustl.edu 37 17 32964404 32964404 + Missense_Mutation SNP G G A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 17 32964404 32964404 G A SNP TMEM132E ENST00000321639 human ensembl 74_37 +1 known missense c.2108 p.C703Y 1.000 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 tier1 - - 55 0 0.00 57 4 6.56 TMEM156 0 genome.wustl.edu 37 4 39033931 39033931 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 4 39033931 39033931 C A SNP TMEM156 ENST00000381938 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 NULL NULL - no_errors TMEM156 HGNC ENSG00000121895 tier1 - - 45 0 0.00 14 3 17.65 TMEM176B 0 genome.wustl.edu 37 7 150490641 150490641 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 7 150490641 150490641 G T SNP TMEM176B ENST00000326442 human ensembl 74_37 -1 known silent c.363 p.G121 0.002 pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt - no_errors TMEM176B HGNC ENSG00000106565 59 0 0.00 66 4 5.71 TNXB 0 genome.wustl.edu 37 6 32049952 32049952 + Silent SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 6 32049952 32049952 C A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.3597 p.R1199 0.701 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 80 0 0.00 72 4 5.26 TP53INP2 0 genome.wustl.edu 37 20 33297097 33297097 + Missense_Mutation SNP C C T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 20 33297097 33297097 C T SNP TP53INP2 ENST00000374809 human ensembl 74_37 +1 known missense c.182 p.P61L 0.993 NULL NULL - no_errors TP53INP2 HGNC ENSG00000078804 61 0 0.00 66 4 5.71 TRIM33 0 genome.wustl.edu 37 1 114967322 114967322 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 114967322 114967322 G T SNP TRIM33 ENST00000358465 human ensembl 74_37 -1 known missense c.1751 p.A584D 1.000 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM33 HGNC ENSG00000197323 tier1 - - 39 0 0.00 41 4 8.89 TRIM35 0 genome.wustl.edu 37 8 27145627 27145627 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 8 27145627 27145627 G T SNP TRIM35 ENST00000305364 human ensembl 74_37 -1 known missense c.922 p.P308T 1.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 25 0 0.00 30 4 11.76 TRIO 0 genome.wustl.edu 37 5 14336722 14336722 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 14336722 14336722 G T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.1932 p.E644D 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 tier1 - - 62 0 0.00 71 4 5.33 TSPAN6 0 genome.wustl.edu 37 X 99887533 99887533 + Missense_Mutation SNP C C G TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f X 99887533 99887533 C G SNP TSPAN6 ENST00000373020 human ensembl 74_37 -1 known missense c.618 p.E206D 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN6 HGNC ENSG00000000003 tier1 - - 97 0 0.00 65 5 7.04 TTN 0 genome.wustl.edu 37 2 179605299 179605299 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 179605299 179605299 G T SNP TTN ENST00000342175 human ensembl 74_37 -1 known missense c.12148 p.P4050T 0.000 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 60 0 0.00 19 3 13.64 UBR3 0 genome.wustl.edu 37 2 170783470 170783470 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 170783470 170783470 G T SNP UBR3 ENST00000272793 human ensembl 74_37 +1 known missense c.2327 p.R776L 1.000 NULL pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR3 HGNC ENSG00000144357 19 0 0.00 19 2 9.52 UGGT1 0 genome.wustl.edu 37 2 128922332 128922332 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 2 128922332 128922332 G T SNP UGGT1 ENST00000259253 human ensembl 74_37 +1 known missense c.2854 p.A952S 1.000 pfam_UDP-g_GGtrans pfam_UDP-g_GGtrans - no_errors UGGT1 HGNC ENSG00000136731 tier1 - - 73 0 0.00 70 4 5.41 USH2A 0 genome.wustl.edu 37 1 216052381 216052381 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 216052381 216052381 C A SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.8283 p.M2761I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 46 0 0.00 23 2 8.00 USP24 0 genome.wustl.edu 37 1 55599820 55599820 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 55599820 55599820 G T SNP USP24 ENST00000407756 human ensembl 74_37 -1 known silent c.2824 p.R942 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,superfamily_ARM-type_fold,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 - no_errors USP24 HGNC ENSG00000162402 55 0 0.00 29 2 6.45 VCP 0 genome.wustl.edu 37 9 35062127 35062127 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 9 35062127 35062127 G T SNP VCP ENST00000358901 human ensembl 74_37 -1 known silent c.954 p.G318 0.622 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 pfam_ATPase_AAA_core,pfam_CDC4_N-term_subdom,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Cdc48_dom2,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_Vps4_C,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase,tigrfam_AAA_ATPase_CDC48 - no_errors VCP HGNC ENSG00000165280 tier1 - - 30 0 0.00 31 4 11.43 VSX1 0 genome.wustl.edu 37 20 25057116 25057116 + Silent SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 20 25057116 25057116 G T SNP VSX1 ENST00000376709 human ensembl 74_37 -1 known silent c.879 p.G293 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors VSX1 HGNC ENSG00000100987 tier1 - - 15 0 0.00 14 4 22.22 WDR17 0 genome.wustl.edu 37 4 177067295 177067295 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 4 177067295 177067295 G T SNP WDR17 ENST00000280190 human ensembl 74_37 +1 known missense c.1751 p.S584I 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep 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 109 0 0.00 64 4 5.88 WDR49 0 genome.wustl.edu 37 3 167320043 167320043 + Missense_Mutation SNP T T C TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 3 167320043 167320043 T C SNP WDR49 ENST00000308378 human ensembl 74_37 -1 known missense c.124 p.K42E 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 59 0 0.00 20 2 9.09 WWC1 0 genome.wustl.edu 37 5 167882521 167882521 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 167882521 167882521 G T SNP WWC1 ENST00000265293 human ensembl 74_37 +1 known missense c.2819 p.C940F 1.000 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC1 HGNC ENSG00000113645 tier1 - - 23 0 0.00 29 4 12.12 ZC3H13 0 genome.wustl.edu 37 13 46549808 46549809 + Frame_Shift_Del DEL CT CT - TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 13 46549808 46549809 CT - DEL ZC3H13 ENST00000242848 human ensembl 74_37 -1 known frame_shift_del c.2078_2077 p.R693fs 0.991:0.444 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 tier1 38 0 0.00 9 2 18.18 ZCCHC11 0 genome.wustl.edu 37 1 52991514 52991514 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 52991514 52991514 G T SNP ZCCHC11 ENST00000257177 human ensembl 74_37 -1 known missense c.439 p.Q147K 0.965 NULL pfam_PAP_assoc,pfam_Znf_CCHC,pfam_Nucleotidyltransferase,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC11 HGNC ENSG00000134744 tier1 - - 41 0 0.00 52 4 7.14 ZFP69 0 genome.wustl.edu 37 1 40961561 40961561 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 40961561 40961561 C A SNP ZFP69 ENST00000372705 human ensembl 74_37 +1 known missense c.1411 p.R471S 0.131 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP69 HGNC ENSG00000187815 48 0 0.00 47 3 6.00 ZKSCAN1 0 genome.wustl.edu 37 7 99631789 99631789 + Missense_Mutation SNP C C T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 7 99631789 99631789 C T SNP ZKSCAN1 ENST00000324306 human ensembl 74_37 +1 known missense c.1661 p.A554V 0.916 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZKSCAN1 HGNC ENSG00000106261 tier1 - - 35 0 0.00 36 4 10.00 ZMYM3 0 genome.wustl.edu 37 X 70473060 70473060 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f X 70473060 70473060 G T SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known missense c.46 p.P16T 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 tier1 - - 33 0 0.00 39 4 9.30 ZNF181 0 genome.wustl.edu 37 19 35232847 35232847 + Nonsense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 19 35232847 35232847 G T SNP ZNF181 ENST00000392232 human ensembl 74_37 +1 known nonsense c.1693 p.E565* 0.159 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF181 HGNC ENSG00000197841 tier1 - - 135 0 0.00 43 4 8.51 ZNF205 0 genome.wustl.edu 37 16 3165551 3165551 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 16 3165551 3165551 C A SNP ZNF205 ENST00000219091 human ensembl 74_37 +1 known missense c.253 p.L85I 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF205 HGNC ENSG00000122386 tier1 - - 69 0 0.00 74 4 5.13 ZNF227 0 genome.wustl.edu 37 19 44739247 44739247 + Nonsense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 19 44739247 44739247 G T SNP ZNF227 ENST00000313040 human ensembl 74_37 +1 known nonsense c.664 p.E222* 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF227 HGNC ENSG00000131115 35 0 0.00 30 2 6.25 ZNF273 0 genome.wustl.edu 37 7 64388525 64388525 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 7 64388525 64388525 G T SNP ZNF273 ENST00000476120 human ensembl 74_37 +1 known missense c.819 p.Q273H 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF273 HGNC ENSG00000198039 tier1 - - 39 0 0.00 19 3 13.64 ZNF273 0 genome.wustl.edu 37 7 64388284 64388284 + Nonsense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 7 64388284 64388284 C A SNP ZNF273 ENST00000476120 human ensembl 74_37 +1 known nonsense c.578 p.S193* 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF273 HGNC ENSG00000198039 85 0 0.00 36 2 5.26 ZNF300 0 genome.wustl.edu 37 5 150275819 150275819 + Frame_Shift_Del DEL A A - TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 5 150275819 150275819 A - DEL ZNF300 ENST00000446148 human ensembl 74_37 -1 known frame_shift_del c.1030 p.S344fs 0.993 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF300 HGNC ENSG00000145908 tier1 53 0 0.00 12 2 14.29 ZNF41 0 genome.wustl.edu 37 X 47308821 47308821 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f X 47308821 47308821 G T SNP ZNF41 ENST00000397050 human ensembl 74_37 -1 known missense c.378 p.F126L 0.622 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF41 HGNC ENSG00000147124 tier1 - - 22 0 0.00 11 3 21.43 ZNF438 0 genome.wustl.edu 37 10 31137766 31137766 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 10 31137766 31137766 C A SNP ZNF438 ENST00000361310 human ensembl 74_37 -1 known missense c.1568 p.R523L 0.816 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 51 0 0.00 50 3 5.66 ZNF445 0 genome.wustl.edu 37 3 44489119 44489119 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 3 44489119 44489119 G T SNP ZNF445 ENST00000396077 human ensembl 74_37 -1 known missense c.2044 p.L682M 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 27 0 0.00 29 2 6.45 ZNF462 0 genome.wustl.edu 37 9 109686536 109686536 + Missense_Mutation SNP C C T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 9 109686536 109686536 C T SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.343 p.R115C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 39 0 0.00 48 3 5.88 ZNF497 0 genome.wustl.edu 37 19 58867836 58867836 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 19 58867836 58867836 G T SNP ZNF497 ENST00000311044 human ensembl 74_37 -1 known missense c.1166 p.A389D 0.002 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF497 HGNC ENSG00000174586 10 0 0.00 7 3 30.00 ZNF616 0 genome.wustl.edu 37 19 52620223 52620223 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 19 52620223 52620223 G T SNP ZNF616 ENST00000600228 human ensembl 74_37 -1 known missense c.194 p.T65K 0.000 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF616 HGNC ENSG00000204611 tier1 - - 51 0 0.00 31 4 11.43 ZNF732 0 genome.wustl.edu 37 4 265587 265587 + Missense_Mutation SNP C C A TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 4 265587 265587 C A SNP ZNF732 ENST00000419098 human ensembl 74_37 -1 known missense c.1059 p.K353N 0.016 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF732 HGNC ENSG00000186777 tier1 - - 40 0 0.00 19 4 17.39 ZNHIT6 0 genome.wustl.edu 37 1 86173818 86173818 + Silent SNP C C T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 1 86173818 86173818 C T SNP ZNHIT6 ENST00000370574 human ensembl 74_37 -1 known silent c.150 p.G50 0.008 NULL pfam_Znf_HIT,pfscan_Znf_HIT - no_errors ZNHIT6 HGNC ENSG00000117174 42 0 0.00 45 3 6.25 ZSWIM8 0 genome.wustl.edu 37 10 75551792 75551792 + Missense_Mutation SNP G G T TCGA-KH-A6WC-01A-11D-A33E-09 TCGA-KH-A6WC-10B-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 176fdb52-294f-4b73-90ba-b4f8e709ed7f e2bf976d-dd39-49a7-b0bd-84ecf7118a5f 10 75551792 75551792 G T SNP ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known missense c.1495 p.G499C 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 tier1 - - 49 0 0.00 73 4 5.19