Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All AKAP9 0 genome.wustl.edu 37 7 91603204 91603204 + Frame_Shift_Del DEL T T - TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 7 91603204 91603204 T - DEL AKAP9 ENST00000359028 human ensembl 69_37n +1 known frame_shift_del c.264 p.V89fs 0.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like - no_errors AKAP9 HGNC ENSG00000127914 144 0 0.00 94 56 34.78 - - - ARHGAP6 0 genome.wustl.edu 37 X 11162146 11162146 + Silent SNP C C T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da X 11162146 11162146 C T SNP ARHGAP6 ENST00000337414 human ensembl 69_37n -1 known silent c.2130 p.S710 0.173 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP6 HGNC ENSG00000047648 151 0 0.00 24 53 68.83 - - - ARHGEF11 0 genome.wustl.edu 37 1 156907126 156907126 + Missense_Mutation SNP C C T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 1 156907126 156907126 C T SNP ARHGEF11 ENST00000368194 human ensembl 69_37n -1 known missense c.4355 p.R1452H 0.000 NULL pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,pfam_Regulat_G_prot_signal,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 53 0 0.00 38 20 34.48 - - - ATIC 0 genome.wustl.edu 37 2 216209567 216209568 + Frame_Shift_Del DEL CT CT - TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 2 216209567 216209568 CT - DEL ATIC ENST00000236959 human ensembl 69_37n +1 known frame_shift_del c.1293_1294 p.S432fs 0.998:1.000 pfam_AICARFT_IMPCHas,superfamily_Cytidine_deaminase-like,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas pfam_AICARFT_IMPCHas,pfam_MGS-like_dom,superfamily_Cytidine_deaminase-like,superfamily_MGS-like_dom,smart_MGS-like_dom,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas - no_errors ATIC HGNC ENSG00000138363 221 0 0.00 134 64 32.32 - - - ATR 0 genome.wustl.edu 37 3 142176483 142176483 + Missense_Mutation SNP T T C TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 3 142176483 142176483 T C SNP ATR ENST00000350721 human ensembl 69_37n -1 known missense c.7618 p.M2540V 0.069 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 245 0 0.00 168 113 40.21 - - - C14orf80 0 genome.wustl.edu 37 14 105965157 105965157 + Silent SNP G G T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 14 105965157 105965157 G T SNP C14orf80 ENST00000392523 human ensembl 69_37n +1 known silent c.1362 p.T454 0.000 NULL NULL - no_errors C14orf80 HGNC ENSG00000185347 45 0 0.00 6 8 57.14 - - - CD1A 0 genome.wustl.edu 37 1 158225973 158225973 + Nonsense_Mutation SNP C C T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 1 158225973 158225973 C T SNP CD1A ENST00000289429 human ensembl 69_37n +1 known nonsense c.505 p.Q169* 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like - no_errors CD1A HGNC ENSG00000158477 229 0 0.00 116 75 39.27 - - - CENPI 0 genome.wustl.edu 37 X 100382636 100382636 + Silent SNP G G A TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da X 100382636 100382636 G A SNP CENPI ENST00000372927 human ensembl 69_37n +1 known silent c.1056 p.Q352 0.868 pfam_Centromere_CenpI pfam_Centromere_CenpI - no_errors CENPI HGNC ENSG00000102384 449 0 0.00 72 201 73.36 - - - CMYA5 0 genome.wustl.edu 37 5 79028598 79028598 + Missense_Mutation SNP C C T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 5 79028598 79028598 C T SNP CMYA5 ENST00000446378 human ensembl 69_37n +1 known missense c.4010 p.S1337L 0.966 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 128 0 0.00 21 68 76.40 - - - CREBRF 0 genome.wustl.edu 37 5 172517553 172517553 + Missense_Mutation SNP C C G TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 5 172517553 172517553 C G SNP CREBRF ENST00000540014 human ensembl 69_37n +1 known missense c.371 p.S124C 1.000 NULL NULL - no_errors CREBRF HGNC ENSG00000164463 191 0 0.00 142 98 40.83 - - - CRMP1 0 genome.wustl.edu 37 4 5837643 5837643 + Missense_Mutation SNP G G A TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 4 5837643 5837643 G A SNP CRMP1 ENST00000324989 human ensembl 69_37n -1 known missense c.1622 p.S541L 1.000 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 144 0 0.00 81 56 40.88 - - - CRYBG3 0 genome.wustl.edu 37 3 97614915 97614915 + Missense_Mutation SNP C C T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 3 97614915 97614915 C T SNP CRYBG3 ENST00000182096 human ensembl 69_37n +1 known missense c.1843 p.R615W 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 326 0 0.00 260 139 34.66 - - - DGKG 0 genome.wustl.edu 37 3 185990120 185990120 + Missense_Mutation SNP G G C TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 3 185990120 185990120 G C SNP DGKG ENST00000265022 human ensembl 69_37n -1 known missense c.923 p.T308S 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKG HGNC ENSG00000058866 328 0 0.00 176 134 43.09 - - - DSC2 0 genome.wustl.edu 37 18 28654837 28654837 + Missense_Mutation SNP A A G TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 18 28654837 28654837 A G SNP DSC2 ENST00000280904 human ensembl 69_37n -1 known missense c.1700 p.L567P 0.860 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmo_cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin,prints_Desmo_cadherin - no_errors DSC2 HGNC ENSG00000134755 468 0 0.00 291 195 40.04 - - - FAM75D5 0 genome.wustl.edu 37 9 84530475 84530475 + RNA SNP C C T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 9 84530475 84530475 C T SNP FAM75D5 ENST00000527857 human ensembl 69_37n +1 known rna NULL NULL 0.005 - - - no_errors FAM75D5 HGNC ENSG00000240632 426 0 0.00 287 195 40.46 - - - FUT5 0 genome.wustl.edu 37 19 5866890 5866890 + Missense_Mutation SNP C C T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 19 5866890 5866890 C T SNP FUT5 ENST00000252675 human ensembl 69_37n -1 known missense c.847 p.V283M 0.993 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT5 HGNC ENSG00000130383 53 0 0.00 22 14 37.84 - - - GIN1 0 genome.wustl.edu 37 5 102432359 102432359 + Missense_Mutation SNP C C G TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 5 102432359 102432359 C G SNP GIN1 ENST00000399004 human ensembl 69_37n -1 known missense c.1180 p.D394H 1.000 NULL pfam_Integrase_cat-core,pfam_Znf_H2C2_histone_UAS-bd,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors GIN1 HGNC ENSG00000145723 482 0 0.00 97 241 71.09 - - - GLB1L 0 genome.wustl.edu 37 2 220102662 220102662 + Silent SNP C C T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 2 220102662 220102662 C T SNP GLB1L ENST00000295759 human ensembl 69_37n -1 known silent c.1359 p.V453 1.000 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1L HGNC ENSG00000163521 175 0 0.00 159 62 27.93 - - - HDAC3 0 genome.wustl.edu 37 5 141005299 141005299 + Missense_Mutation SNP G G A TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 5 141005299 141005299 G A SNP HDAC3 ENST00000305264 human ensembl 69_37n -1 known missense c.1012 p.L338F 1.000 pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC3 HGNC ENSG00000171720 593 1 0.17 112 238 67.81 - - - HIF3A 0 genome.wustl.edu 37 19 46825069 46825069 + Missense_Mutation SNP C C T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 19 46825069 46825069 C T SNP HIF3A ENST00000377670 human ensembl 69_37n +1 known missense c.1181 p.P394L 0.991 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_errors HIF3A HGNC ENSG00000124440 30 0 0.00 24 9 27.27 - - - IGHV3-16 0 genome.wustl.edu 37 14 106622007 106622007 + Missense_Mutation SNP C C A TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 14 106622007 106622007 C A SNP IGHV3-16 ENST00000390604 human ensembl 69_37n -1 known missense c.238 p.V80L 0.000 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV3-16 HGNC ENSG00000211944 201 0 0.00 26 90 77.59 - - - KCNG2 0 genome.wustl.edu 37 18 77659086 77659086 + Missense_Mutation SNP T T C TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 18 77659086 77659086 T C SNP KCNG2 ENST00000316249 human ensembl 69_37n +1 known missense c.671 p.V224A 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv - no_errors KCNG2 HGNC ENSG00000178342 41 0 0.00 17 9 34.62 - - - KIAA0528 0 genome.wustl.edu 37 12 22677465 22677465 + Missense_Mutation SNP C C T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 12 22677465 22677465 C T SNP KIAA0528 ENST00000333957 human ensembl 69_37n -1 known missense c.542 p.R181Q 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors KIAA0528 HGNC ENSG00000111731 448 0 0.00 83 207 71.38 - - - LYN 0 genome.wustl.edu 37 8 56912024 56912024 + Missense_Mutation SNP G G A TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 8 56912024 56912024 G A SNP LYN ENST00000519728 human ensembl 69_37n +1 known missense c.1252 p.G418R 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors LYN HGNC ENSG00000254087 429 0 0.00 327 173 34.60 - - - MFAP3L 0 genome.wustl.edu 37 4 170912804 170912804 + Missense_Mutation SNP C C T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 4 170912804 170912804 C T SNP MFAP3L ENST00000361618 human ensembl 69_37n -1 known missense c.955 p.V319M 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MFAP3L HGNC ENSG00000198948 208 0 0.00 125 94 42.92 - - - MLL4 0 genome.wustl.edu 37 19 36211899 36211899 + Frame_Shift_Del DEL C C - TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 19 36211899 36211899 C - DEL MLL4 ENST00000222270 human ensembl 69_37n +1 known frame_shift_del c.1650 p.K553fs 0.252 pirsf_MeTrfase_trithorax pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_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_CXXC - no_errors MLL4 Clone_based_vega_gene ENSG00000105663 98 0 0.00 60 38 38.38 - - - MRFAP1L1 0 genome.wustl.edu 37 4 6711321 6711321 + Silent SNP A A G TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 4 6711321 6711321 A G SNP MRFAP1L1 ENST00000320848 human ensembl 69_37n -1 known silent c.36 p.P12 0.007 NULL NULL - no_errors MRFAP1L1 HGNC ENSG00000178988 75 0 0.00 64 30 31.91 - - - MRPS11 0 genome.wustl.edu 37 15 89020270 89020270 + Silent SNP G G A TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 15 89020270 89020270 G A SNP MRPS11 ENST00000325844 human ensembl 69_37n +1 known silent c.462 p.L154 1.000 pfam_Ribosomal_S11 pfam_Ribosomal_S11 - no_errors MRPS11 HGNC ENSG00000181991 346 0 0.00 184 118 39.07 - - - MTMR8 0 genome.wustl.edu 37 X 63488612 63488612 + Missense_Mutation SNP C C T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da X 63488612 63488612 C T SNP MTMR8 ENST00000374852 human ensembl 69_37n -1 known missense c.1920 p.M640I 0.000 NULL pfam_Myotub-related,smart_Tyr_Pase_cat - no_errors MTMR8 HGNC ENSG00000102043 256 0 0.00 44 132 75.00 - - - NAALADL2 0 genome.wustl.edu 37 3 175042047 175042047 + Missense_Mutation SNP C C G TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 3 175042047 175042047 C G SNP NAALADL2 ENST00000454872 human ensembl 69_37n +1 known missense c.1023 p.S341R 0.000 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 386 0 0.00 271 189 41.09 - - - NLRC4 0 genome.wustl.edu 37 2 32476278 32476278 + Nonsense_Mutation SNP G G A TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 2 32476278 32476278 G A SNP NLRC4 ENST00000360906 human ensembl 69_37n -1 known nonsense c.655 p.Q219* 0.102 pfscan_NACHT_NTPase pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 150 0 0.00 104 59 36.20 - - - NPAP1 0 genome.wustl.edu 37 15 24921813 24921813 + Missense_Mutation SNP G G T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 15 24921813 24921813 G T SNP NPAP1 ENST00000329468 human ensembl 69_37n +1 known missense c.799 p.V267F 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 22 0 0.00 13 7 35.00 - - - OR11G2 0 genome.wustl.edu 37 14 20665593 20665593 + Silent SNP G G A TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 14 20665593 20665593 G A SNP OR11G2 ENST00000357366 human ensembl 69_37n +1 known silent c.99 p.R33 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR11G2 HGNC ENSG00000196832 135 0 0.00 36 63 63.64 - - - OR4F15 0 genome.wustl.edu 37 15 102358597 102358597 + Missense_Mutation SNP G G A TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 15 102358597 102358597 G A SNP OR4F15 ENST00000332238 human ensembl 69_37n +1 known missense c.208 p.D70N 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4F15 HGNC ENSG00000182854 449 0 0.00 250 198 44.20 - - - OR4F6 0 genome.wustl.edu 37 15 102346324 102346324 + Silent SNP C C T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 15 102346324 102346324 C T SNP OR4F6 ENST00000328882 human ensembl 69_37n +1 known silent c.402 p.T134 0.070 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4F6 HGNC ENSG00000184140 350 0 0.00 395 160 28.78 - - - OTUD7B 0 genome.wustl.edu 37 1 149939428 149939428 + Missense_Mutation SNP C C A TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 1 149939428 149939428 C A SNP OTUD7B ENST00000369135 human ensembl 69_37n -1 known missense c.293 p.G98V 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 70 0 0.00 31 32 50.79 - - - PHYH 0 genome.wustl.edu 37 10 13325695 13325695 + Silent SNP G G T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 10 13325695 13325695 G T SNP PHYH ENST00000263038 human ensembl 69_37n -1 known silent c.823 p.R275 1.000 pfam_Phytyl_CoA_dOase pfam_Phytyl_CoA_dOase - no_errors PHYH HGNC ENSG00000107537 177 0 0.00 84 60 41.38 - - - PIPOX 0 genome.wustl.edu 37 17 27380585 27380585 + Missense_Mutation SNP G G A TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 17 27380585 27380585 G A SNP PIPOX ENST00000323372 human ensembl 69_37n +1 known missense c.632 p.R211H 0.004 pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon - no_errors PIPOX HGNC ENSG00000179761 107 0 0.00 52 43 45.26 - - - PLEKHA6 0 genome.wustl.edu 37 1 204214761 204214761 + Missense_Mutation SNP C C T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 1 204214761 204214761 C T SNP PLEKHA6 ENST00000272203 human ensembl 69_37n -1 known missense c.2014 p.D672N 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 101 0 0.00 53 44 45.36 - - - PSG3 0 genome.wustl.edu 37 19 43233453 43233453 + Silent SNP G G A TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 19 43233453 43233453 G A SNP PSG3 ENST00000327495 human ensembl 69_37n -1 known silent c.1065 p.F355 0.000 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PSG3 HGNC ENSG00000221826 495 0 0.00 414 284 40.63 - - - RBM19 0 genome.wustl.edu 37 12 114380175 114380175 + Missense_Mutation SNP C C T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 12 114380175 114380175 C T SNP RBM19 ENST00000261741 human ensembl 69_37n -1 known missense c.1691 p.R564Q 0.294 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors RBM19 HGNC ENSG00000122965 67 0 0.00 31 12 27.91 - - - RUVBL1 0 genome.wustl.edu 37 3 127800192 127800192 + Silent SNP G G A TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 3 127800192 127800192 G A SNP RUVBL1 ENST00000322623 human ensembl 69_37n -1 known silent c.1272 p.S424 0.995 NULL pfam_TIP49_C,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_AAA_core,superfamily_NA-bd_OB-fold-like,smart_AAA+_ATPase - no_errors RUVBL1 HGNC ENSG00000175792 446 0 0.00 265 153 36.52 - - - RYR2 0 genome.wustl.edu 37 1 237863760 237863760 + Missense_Mutation SNP C C G TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 1 237863760 237863760 C G SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.9354 p.D3118E 0.998 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 141 0 0.00 111 71 39.01 - - - SATB2 0 genome.wustl.edu 37 2 200137283 200137283 + Missense_Mutation SNP C C T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 2 200137283 200137283 C T SNP SATB2 ENST00000260926 human ensembl 69_37n -1 known missense c.1853 p.R618H 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 150 1 0.66 65 56 46.28 - - - SGIP1 0 genome.wustl.edu 37 1 67206375 67206375 + Missense_Mutation SNP C C A TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 1 67206375 67206375 C A SNP SGIP1 ENST00000237247 human ensembl 69_37n +1 known missense c.2362 p.P788T 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 215 0 0.00 193 135 41.16 - - - TMEM80 0 genome.wustl.edu 37 11 700171 700171 + Silent SNP T T C TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 11 700171 700171 T C SNP TMEM80 ENST00000397510 human ensembl 69_37n +1 known silent c.144 p.F48 0.088 pfam_Uncharacterised_TM-17 pfam_Uncharacterised_TM-17 - no_errors TMEM80 HGNC ENSG00000177042 274 0 0.00 161 103 39.02 - - - TP53 0 genome.wustl.edu 37 17 7579591 7579591 + Splice_Site SNP C C G TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 17 7579591 7579591 C G SNP TP53 ENST00000269305 human ensembl 69_37n -1 known splice_site c.97-1 e3-1 0.023 - - - no_errors TP53 HGNC ENSG00000141510 88 0 0.00 8 39 82.98 - - - TROVE2 0 genome.wustl.edu 37 1 193045697 193045697 + Missense_Mutation SNP G G T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 1 193045697 193045697 G T SNP TROVE2 ENST00000367441 human ensembl 69_37n +1 known missense c.868 p.A290S 1.000 pfam_TROVE,pfscan_TROVE pfam_TROVE,pfscan_TROVE - no_errors TROVE2 HGNC ENSG00000116747 330 0 0.00 258 186 41.89 - - - TTBK2 0 genome.wustl.edu 37 15 43122137 43122137 + Missense_Mutation SNP G G A TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 15 43122137 43122137 G A SNP TTBK2 ENST00000267890 human ensembl 69_37n -1 known missense c.431 p.P144L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors TTBK2 HGNC ENSG00000128881 278 0 0.00 152 126 45.16 - - - USP36 0 genome.wustl.edu 37 17 76831512 76831512 + Nonsense_Mutation SNP G G A TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 17 76831512 76831512 G A SNP USP36 ENST00000312010 human ensembl 69_37n -1 known nonsense c.325 p.R109* 0.999 NULL pfam_Peptidase_C19,pfscan_Peptidase_C19 - no_errors USP36 HGNC ENSG00000055483 107 0 0.00 57 36 38.30 - - - WDR90 0 genome.wustl.edu 37 16 708527 708527 + Silent SNP G G A TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 16 708527 708527 G A SNP WDR90 ENST00000549091 human ensembl 69_37n +1 novel silent c.2769 p.L923 0.178 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 30 0 0.00 12 10 45.45 - - - ZNF217 0 genome.wustl.edu 37 20 52193283 52193283 + Missense_Mutation SNP A A G TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 20 52193283 52193283 A G SNP ZNF217 ENST00000302342 human ensembl 69_37n -1 known missense c.2020 p.C674R 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 228 0 0.00 169 122 41.92 - - - ZNF597 0 genome.wustl.edu 37 16 3486606 3486606 + Nonsense_Mutation SNP C C A TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 16 3486606 3486606 C A SNP ZNF597 ENST00000301744 human ensembl 69_37n -1 known nonsense c.1093 p.E365* 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF597 HGNC ENSG00000167981 249 0 0.00 121 78 38.81 - - - ZNF646 0 genome.wustl.edu 37 16 31092215 31092215 + Nonsense_Mutation SNP C C T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 16 31092215 31092215 C T SNP ZNF646 ENST00000300850 human ensembl 69_37n +1 known nonsense c.4570 p.Q1524* 0.273 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 89 0 0.00 36 32 47.06 - - - ZNF684 0 genome.wustl.edu 37 1 41006377 41006377 + Silent SNP C C T TCGA-E2-A155-01A-11D-A12B-09 TCGA-E2-A155-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx a966904f-e8dd-473c-8626-84c25d7e0d6c ff422b83-8a29-41b3-8e73-2909fe3521da 1 41006377 41006377 C T SNP ZNF684 ENST00000372699 human ensembl 69_37n +1 known silent c.135 p.I45 0.970 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF684 HGNC ENSG00000117010 436 0 0.00 306 165 35.03 - - -