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 AKT3 0 genome.wustl.edu 37 1 243828162 243828162 + Nonsense_Mutation SNP G G A TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 1 243828162 243828162 G A SNP AKT3 ENST00000263826 human ensembl 69_37n -1 known nonsense c.196 p.R66* 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom - no_errors AKT3 HGNC ENSG00000117020 311 0 0.00 232 178 43.41 - - - AP2A1 0 genome.wustl.edu 37 19 50302640 50302640 + Missense_Mutation SNP G G C TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 19 50302640 50302640 G C SNP AP2A1 ENST00000359032 human ensembl 69_37n +1 known missense c.1022 p.R341P 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 15 0 0.00 10 7 41.18 - - - ARHGEF7 0 genome.wustl.edu 37 13 111927898 111927898 + Missense_Mutation SNP G G A TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 13 111927898 111927898 G A SNP ARHGEF7 ENST00000375741 human ensembl 69_37n +1 known missense c.1355 p.R452Q 1.000 superfamily_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,prints_SH3_domain,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF7 HGNC ENSG00000102606 150 0 0.00 146 26 15.12 - - - ARID1A 0 genome.wustl.edu 37 1 27057934 27057934 + Nonsense_Mutation SNP C C T TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 1 27057934 27057934 C T SNP ARID1A ENST00000324856 human ensembl 69_37n +1 known nonsense c.1642 p.Q548* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 234 0 0.00 140 107 43.32 - - - ASB5 0 genome.wustl.edu 37 4 177138077 177138077 + Frame_Shift_Del DEL G G - TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 4 177138077 177138077 G - DEL ASB5 ENST00000296525 human ensembl 69_37n -1 known frame_shift_del c.754 p.L252fs 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB5 HGNC ENSG00000164122 327 0 0.00 248 59 19.16 - - - CDH7 0 genome.wustl.edu 37 18 63547856 63547856 + Missense_Mutation SNP G G A TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 18 63547856 63547856 G A SNP CDH7 ENST00000323011 human ensembl 69_37n +1 known missense c.2084 p.R695Q 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 194 0 0.00 80 55 40.74 - - - CDK5 0 genome.wustl.edu 37 7 150752460 150752460 + Missense_Mutation SNP C C A TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 7 150752460 150752460 C A SNP CDK5 ENST00000485972 human ensembl 69_37n -1 known missense c.484 p.V162L 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors CDK5 HGNC ENSG00000164885 77 0 0.00 57 39 40.62 - - - COL6A6 0 genome.wustl.edu 37 3 130285633 130285633 + Missense_Mutation SNP C C T TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 3 130285633 130285633 C T SNP COL6A6 ENST00000358511 human ensembl 69_37n +1 known missense c.1370 p.T457M 0.686 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 132 0 0.00 77 64 45.07 - - - DET1 0 genome.wustl.edu 37 15 89074906 89074906 + Nonsense_Mutation SNP G G A TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 15 89074906 89074906 G A SNP DET1 ENST00000444300 human ensembl 69_37n -1 known nonsense c.64 p.R22* 1.000 NULL pfam_De-etiolated_protein_1_Det1 - no_errors DET1 HGNC ENSG00000140543 185 0 0.00 104 34 24.64 - - - DIP2A 0 genome.wustl.edu 37 21 47974150 47974150 + Silent SNP G G A TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 21 47974150 47974150 G A SNP DIP2A ENST00000318711 human ensembl 69_37n +1 known silent c.3102 p.L1034 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 97 0 0.00 81 23 22.12 - - - DMRTA1 0 genome.wustl.edu 37 9 22451851 22451851 + Missense_Mutation SNP A A T TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 9 22451851 22451851 A T SNP DMRTA1 ENST00000325870 human ensembl 69_37n +1 known missense c.1456 p.S486C 1.000 NULL pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTA1 HGNC ENSG00000176399 125 0 0.00 101 25 19.69 - - - ENSG00000248666 0 genome.wustl.edu 37 9 130477768 130477768 + RNA SNP G G A TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 9 130477768 130477768 G A SNP ENSG00000248666 ENST00000335223 human ensembl 69_37n -1 known rna NULL NULL 0.041 - - - no_errors RP11-56D16.2 Clone_based_vega_gene ENSG00000248666 10 0 0.00 5 10 66.67 - - - FANCA 0 genome.wustl.edu 37 16 89818569 89818569 + Missense_Mutation SNP C C T TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 16 89818569 89818569 C T SNP FANCA ENST00000389301 human ensembl 69_37n -1 known missense c.3043 p.E1015K 0.000 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 126 0 0.00 58 47 44.76 - - - FLNC 0 genome.wustl.edu 37 7 128494721 128494721 + Missense_Mutation SNP G G T TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 7 128494721 128494721 G T SNP FLNC ENST00000325888 human ensembl 69_37n +1 known missense c.6982 p.V2328L 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 25 0 0.00 18 9 33.33 - - - HERC2P2 0 genome.wustl.edu 37 15 23300098 23300098 + RNA SNP C C T TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 15 23300098 23300098 C T SNP HERC2P2 ENST00000560464 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors HERC2P2 HGNC ENSG00000140181 32 0 0.00 24 6 20.00 - - - ITPR1 0 genome.wustl.edu 37 3 4854831 4854831 + Missense_Mutation SNP G G T TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 3 4854831 4854831 G T SNP ITPR1 ENST00000302640 human ensembl 69_37n +1 known missense c.7429 p.G2477C 0.110 pfam_Ion_trans_dom pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 209 0 0.00 187 32 14.61 - - - LRRC37A4P 0 genome.wustl.edu 37 17 43592301 43592301 + RNA SNP G G A TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 17 43592301 43592301 G A SNP LRRC37A4P ENST00000579913 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors LRRC37A4P HGNC ENSG00000214425 30 0 0.00 14 5 26.32 - - - NAV3 0 genome.wustl.edu 37 12 78225321 78225321 + Missense_Mutation SNP C C G TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 12 78225321 78225321 C G SNP NAV3 ENST00000397909 human ensembl 69_37n +1 known missense c.80 p.P27R 1.000 superfamily_CH-domain pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 172 0 0.00 68 52 43.33 - - - NFE2 0 genome.wustl.edu 37 12 54686775 54686775 + Missense_Mutation SNP G G A TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 12 54686775 54686775 G A SNP NFE2 ENST00000312156 human ensembl 69_37n -1 known missense c.505 p.R169C 0.731 NULL pfam_bZIP_1,pfam_bZIP_2,pfam_bZIP_Maf,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors NFE2 HGNC ENSG00000123405 93 0 0.00 53 40 41.24 - - - ODZ1 0 genome.wustl.edu 37 X 123554340 123554340 + Silent SNP G G A TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 X 123554340 123554340 G A SNP ODZ1 ENST00000422452 human ensembl 69_37n -1 known silent c.4803 p.G1601 0.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EGF-like,pfscan_EG-like_dom,tigrfam_YD - no_errors ODZ1 HGNC ENSG00000009694 132 0 0.00 132 25 15.82 - - - OTOGL 0 genome.wustl.edu 37 12 80647295 80647295 + Silent SNP C C T TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 12 80647295 80647295 C T SNP OTOGL ENST00000458043 human ensembl 69_37n +1 known silent c.1308 p.C436 0.986 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 493 2 0.40 230 71 23.59 - - - PLEKHM1 0 genome.wustl.edu 37 17 43531287 43531287 + Missense_Mutation SNP G G A TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 17 43531287 43531287 G A SNP PLEKHM1 ENST00000430334 human ensembl 69_37n -1 known missense c.1931 p.P644L 0.000 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC ENSG00000225190 19 0 0.00 22 8 26.67 - - - PNMA1 0 genome.wustl.edu 37 14 74179741 74179741 + Missense_Mutation SNP C C T TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 14 74179741 74179741 C T SNP PNMA1 ENST00000316836 human ensembl 69_37n -1 known missense c.602 p.R201Q 0.998 superfamily_Globin-like superfamily_Globin-like - no_errors PNMA1 HGNC ENSG00000176903 13 0 0.00 10 12 54.55 - - - POLR3B 0 genome.wustl.edu 37 12 106850925 106850925 + Missense_Mutation SNP G G A TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 12 106850925 106850925 G A SNP POLR3B ENST00000228347 human ensembl 69_37n +1 known missense c.2303 p.R768H 1.000 pfam_DNA-dir_RNA_pol_su2_6 pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 436 0 0.00 239 66 21.64 - - - RUFY1 0 genome.wustl.edu 37 5 178994480 178994481 + Frame_Shift_Ins INS - - CGAG TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 5 178994480 178994481 - CGAG INS RUFY1 ENST00000319449 human ensembl 69_37n +1 known frame_shift_ins c.621_622 p.W209fs 0.998:0.998 pfam_Run,smart_Run,pfscan_Run pfam_Run,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run,pfscan_Znf_FYVE-rel,pfscan_Znf_RING - no_errors RUFY1 HGNC ENSG00000176783 237 0 0.00 214 77 26.46 - - - SLC6A7 0 genome.wustl.edu 37 5 149588999 149588999 + Missense_Mutation SNP G G A TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 5 149588999 149588999 G A SNP SLC6A7 ENST00000230671 human ensembl 69_37n +1 known missense c.1732 p.D578N 1.000 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A7 HGNC ENSG00000011083 22 0 0.00 14 7 33.33 - - - TEX13A 0 genome.wustl.edu 37 X 104464131 104464131 + Missense_Mutation SNP G G A TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 X 104464131 104464131 G A SNP TEX13A ENST00000413579 human ensembl 69_37n -1 known missense c.745 p.L249F 0.000 NULL pfam_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors TEX13A HGNC ENSG00000133149 150 0 0.00 133 57 30.00 - - - TRMT44 0 genome.wustl.edu 37 4 8469962 8469962 + Nonsense_Mutation SNP C C T TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 4 8469962 8469962 C T SNP TRMT44 ENST00000389737 human ensembl 69_37n +1 known nonsense c.1816 p.R606* 0.723 NULL pfam_tRNA_uracil_MeTrfase - no_errors TRMT44 HGNC ENSG00000155275 106 0 0.00 72 10 12.20 - - - TSPAN17 0 genome.wustl.edu 37 5 176078754 176078754 + Splice_Site SNP G G A TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 5 176078754 176078754 G A SNP TSPAN17 ENST00000310032 human ensembl 69_37n +1 known splice_site c.139-1 e3-1 1.000 - - - no_errors TSPAN17 HGNC ENSG00000048140 179 1 0.56 195 27 12.11 - - - TTI1 0 genome.wustl.edu 37 20 36641436 36641436 + Missense_Mutation SNP T T A TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 20 36641436 36641436 T A SNP TTI1 ENST00000373447 human ensembl 69_37n -1 known missense c.783 p.K261N 0.155 superfamily_ARM-type_fold,pirsf_UCP005250 superfamily_ARM-type_fold,pirsf_UCP005250 - no_errors TTI1 HGNC ENSG00000101407 316 1 0.31 258 130 33.51 - - - TYK2 0 genome.wustl.edu 37 19 10475348 10475348 + Missense_Mutation SNP C C T TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 19 10475348 10475348 C T SNP TYK2 ENST00000264818 human ensembl 69_37n -1 known missense c.1309 p.E437K 0.986 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak/Tyk2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 20 0 0.00 16 7 30.43 - - - ZNF577 0 genome.wustl.edu 37 19 52381767 52381767 + Missense_Mutation SNP C C A TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 19 52381767 52381767 C A SNP ZNF577 ENST00000301399 human ensembl 69_37n -1 known missense c.62 p.G21V 0.000 superfamily_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 ZNF577 HGNC ENSG00000161551 173 0 0.00 136 59 30.26 - - - ZNF831 0 genome.wustl.edu 37 20 57782030 57782030 + Nonsense_Mutation SNP C C T TCGA-BH-A1EO-01A-11D-A135-09 TCGA-BH-A1EO-11A-31D-A135-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 20131381-8a11-425d-8954-980e6ec7c427 cb2284f3-6d08-40ec-bf36-dfa349354c59 20 57782030 57782030 C T SNP ZNF831 ENST00000371030 human ensembl 69_37n +1 novel nonsense c.3946 p.R1316* 0.005 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 66 0 0.00 56 27 32.14 - - -