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 ALMS1 0 genome.wustl.edu 37 2 73651968 73651968 + Missense_Mutation SNP G G C TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 2 73651968 73651968 G C SNP ALMS1 ENST00000264448 human ensembl 69_37n +1 known missense c.1175 p.R392P 0.010 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 17 0 0.00 23 15 39.47 - - - ANO7L1 0 genome.wustl.edu 37 1 16543736 16543736 + RNA SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 1 16543736 16543736 G A SNP ANO7L1 ENST00000475369 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ANO7L1 HGNC ENSG00000237276 9 0 0.00 10 4 28.57 - - - ATG9B 0 genome.wustl.edu 37 7 150721003 150721003 + RNA SNP C C T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 7 150721003 150721003 C T SNP ATG9B ENST00000377974 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors ATG9B HGNC ENSG00000181652 49 0 0.00 56 41 42.27 - - - C17orf28 0 genome.wustl.edu 37 17 72948429 72948429 + Silent SNP C C T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 17 72948429 72948429 C T SNP C17orf28 ENST00000425042 human ensembl 69_37n -1 known silent c.2079 p.P693 0.783 NULL pfam_Dymeclin - no_errors C17orf28 HGNC ENSG00000167861 30 0 0.00 85 25 22.73 - - - C17orf97 0 genome.wustl.edu 37 17 263643 263643 + Missense_Mutation SNP C C A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 17 263643 263643 C A SNP C17orf97 ENST00000360127 human ensembl 69_37n +1 known missense c.1009 p.P337T 0.000 NULL NULL - no_errors C17orf97 HGNC ENSG00000187624 19 0 0.00 24 7 22.58 - - - C17orf97 0 genome.wustl.edu 37 17 263645 263645 + Silent SNP C C T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 17 263645 263645 C T SNP C17orf97 ENST00000360127 human ensembl 69_37n +1 known silent c.1011 p.P337 0.000 NULL NULL - no_errors C17orf97 HGNC ENSG00000187624 18 0 0.00 23 7 23.33 - - - C9orf174 0 genome.wustl.edu 37 9 100124574 100124574 + Missense_Mutation SNP G G C TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 9 100124574 100124574 G C SNP C9orf174 ENST00000375202 human ensembl 69_37n +1 known missense c.3885 p.E1295D 0.002 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 35 0 0.00 17 27 61.36 - - - CFLAR 0 genome.wustl.edu 37 2 202005121 202005121 + Missense_Mutation SNP G G T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 2 202005121 202005121 G T SNP CFLAR ENST00000309955 human ensembl 69_37n +1 known missense c.565 p.A189S 0.023 NULL pfam_DED,pfam_Pept_C14_cat,superfamily_DEATH-like,smart_DED,smart_Pept_C14_p45_core,pfscan_DED,pfscan_Pept_C14_ICE_p20 - no_errors CFLAR HGNC ENSG00000003402 36 0 0.00 28 4 12.50 - - - COL19A1 0 genome.wustl.edu 37 6 70642694 70642694 + Missense_Mutation SNP A A C TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 6 70642694 70642694 A C SNP COL19A1 ENST00000322773 human ensembl 69_37n +1 known missense c.686 p.K229T 0.324 superfamily_ConA-like_lec_gl,smart_Laminin_G pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 27 0 0.00 51 27 34.62 - - - COL4A3 0 genome.wustl.edu 37 2 228111412 228111412 + Silent SNP G G T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 2 228111412 228111412 G T SNP COL4A3 ENST00000396578 human ensembl 69_37n +1 known silent c.399 p.G133 0.866 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A3 HGNC ENSG00000169031 43 0 0.00 35 18 33.96 - - - DBC1 0 genome.wustl.edu 37 9 121929962 121929962 + Silent SNP G G C TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 9 121929962 121929962 G C SNP DBC1 ENST00000265922 human ensembl 69_37n -1 known silent c.1686 p.V562 1.000 NULL pfam_MACPF,smart_MACPF - no_errors DBC1 HGNC ENSG00000078725 31 0 0.00 8 17 68.00 - - - DDR2 0 genome.wustl.edu 37 1 162722987 162722987 + Missense_Mutation SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 1 162722987 162722987 G A SNP DDR2 ENST00000367921 human ensembl 69_37n +1 known missense c.185 p.R62K 1.000 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 15 0 0.00 50 15 23.08 - - - DDX1 0 genome.wustl.edu 37 2 15743373 15743373 + Missense_Mutation SNP C C T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 2 15743373 15743373 C T SNP DDX1 ENST00000233084 human ensembl 69_37n +1 known missense c.449 p.S150F 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_ConA-like_lec_gl,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX1 HGNC ENSG00000079785 48 0 0.00 47 25 34.72 - - - DYNC1I1 0 genome.wustl.edu 37 7 95499217 95499217 + Missense_Mutation SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 7 95499217 95499217 G A SNP DYNC1I1 ENST00000324972 human ensembl 69_37n +1 known missense c.448 p.V150M 0.993 pfam_Dynein_IC_1/2 pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I1 HGNC ENSG00000158560 35 0 0.00 47 23 32.86 - - - EBF2 0 genome.wustl.edu 37 8 25747294 25747294 + Missense_Mutation SNP C C G TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 8 25747294 25747294 C G SNP EBF2 ENST00000520164 human ensembl 69_37n -1 known missense c.725 p.R242T 1.000 NULL pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt - no_errors EBF2 HGNC ENSG00000221818 28 0 0.00 33 11 25.00 - - - EFNA5 0 genome.wustl.edu 37 5 106722968 106722968 + Missense_Mutation SNP T T C TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 5 106722968 106722968 T C SNP EFNA5 ENST00000333274 human ensembl 69_37n -1 known missense c.533 p.N178S 1.000 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNA5 HGNC ENSG00000184349 17 0 0.00 33 10 23.26 - - - EP300 0 genome.wustl.edu 37 22 41527549 41527549 + Missense_Mutation SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 22 41527549 41527549 G A SNP EP300 ENST00000263253 human ensembl 69_37n +1 known missense c.1440 p.M480I 1.000 NULL pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 19 0 0.00 20 19 48.72 - - - FAM47B 0 genome.wustl.edu 37 X 34961262 34961262 + Missense_Mutation SNP C C T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b X 34961262 34961262 C T SNP FAM47B ENST00000329357 human ensembl 69_37n +1 known missense c.314 p.S105F 0.096 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 71 0 0.00 78 60 43.48 - - - FRG2B 0 genome.wustl.edu 37 10 135438753 135438753 + Silent SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 10 135438753 135438753 G A SNP FRG2B ENST00000443774 human ensembl 69_37n -1 known silent c.690 p.T230 0.707 NULL NULL - no_errors FRG2B HGNC ENSG00000225899 9 0 0.00 21 12 36.36 - - - HERC2P4 0 genome.wustl.edu 37 16 32192677 32192677 + RNA SNP T T C TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 16 32192677 32192677 T C SNP HERC2P4 ENST00000568097 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors HERC2P4 HGNC ENSG00000230267 102 1 0.97 167 80 32.39 - - - HEXDC 0 genome.wustl.edu 37 17 80393721 80393721 + Nonsense_Mutation SNP C C T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 17 80393721 80393721 C T SNP HEXDC ENST00000337014 human ensembl 69_37n +1 known nonsense c.604 p.R202* 0.805 pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_20_cat-core,superfamily_Glycoside_hydrolase_SF - no_errors HEXDC HGNC ENSG00000169660 22 0 0.00 61 18 22.78 - - - HLA-DRB1 0 genome.wustl.edu 37 6 32548026 32548026 + Missense_Mutation SNP G G C TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 6 32548026 32548026 G C SNP HLA-DRB1 ENST00000360004 human ensembl 69_37n -1 known missense c.785 p.T262R 1.000 NULL pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB1 HGNC ENSG00000196126 11 0 0.00 33 18 35.29 - - - IGF2BP1 0 genome.wustl.edu 37 17 47074903 47074903 + RNA SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 17 47074903 47074903 G A SNP IGF2BP1 ENST00000510023 human ensembl 69_37n +1 putative rna NULL NULL 0.078 - - - no_errors IGF2BP1 HGNC ENSG00000159217 53 0 0.00 76 69 47.59 - - - KANK2 0 genome.wustl.edu 37 19 11287434 11287434 + Missense_Mutation SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 19 11287434 11287434 G A SNP KANK2 ENST00000432929 human ensembl 69_37n -1 known missense c.1604 p.T535I 0.988 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 45 0 0.00 63 41 39.42 - - - KCNC1 0 genome.wustl.edu 37 11 17794066 17794066 + Silent SNP C C T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 11 17794066 17794066 C T SNP KCNC1 ENST00000265969 human ensembl 69_37n +1 known silent c.1425 p.V475 1.000 prints_K_chnl_volt-dep_Kv3.1 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_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 19 0 0.00 51 26 33.77 - - - KIRREL3 0 genome.wustl.edu 37 11 126870458 126870458 + RNA SNP C C T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 11 126870458 126870458 C T SNP KIRREL3 ENST00000533026 human ensembl 69_37n -1 known rna NULL NULL 0.990 - - - no_errors KIRREL3 HGNC ENSG00000149571 16 0 0.00 7 21 75.00 - - - KLHL29 0 genome.wustl.edu 37 2 23916391 23916391 + Missense_Mutation SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 2 23916391 23916391 G A SNP KLHL29 ENST00000486442 human ensembl 69_37n +1 known missense c.1535 p.R512H 0.946 pfam_BACK,smart_BACK pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL29 HGNC ENSG00000119771 16 0 0.00 29 6 17.14 - - - LANCL3 0 genome.wustl.edu 37 X 37431625 37431625 + Missense_Mutation SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b X 37431625 37431625 G A SNP LANCL3 ENST00000378619 human ensembl 69_37n +1 known missense c.502 p.D168N 1.000 pfam_LANC-like,prints_LANC-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LANC-like,prints_LanC-like_prot_euk - no_errors LANCL3 HGNC ENSG00000147036 45 0 0.00 49 27 35.53 - - - LINC00200 0 genome.wustl.edu 37 10 1205736 1205736 + RNA SNP A A G TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 10 1205736 1205736 A G SNP LINC00200 ENST00000425630 human ensembl 69_37n +1 known rna NULL NULL 0.155 - - - no_errors LINC00200 HGNC ENSG00000229205 23 0 0.00 63 13 17.11 - - - MCM3AP 0 genome.wustl.edu 37 21 47695144 47695144 + Missense_Mutation SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 21 47695144 47695144 G A SNP MCM3AP ENST00000291688 human ensembl 69_37n -1 known missense c.1954 p.R652C 0.973 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 45 0 0.00 53 42 44.21 - - - MRPL23 0 genome.wustl.edu 37 11 1983601 1983601 + Missense_Mutation SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 11 1983601 1983601 G A SNP MRPL23 ENST00000381514 human ensembl 69_37n +1 putative missense c.430 p.V144M 0.000 NULL pfam_Ribosomal_L25/23,superfamily_Ribosomal_L23/L15e_core_dom - no_errors MRPL23 HGNC ENSG00000214026 43 0 0.00 75 61 44.85 - - - NOTCH2 0 genome.wustl.edu 37 1 120480488 120480488 + Missense_Mutation SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 1 120480488 120480488 G A SNP NOTCH2 ENST00000256646 human ensembl 69_37n -1 known missense c.3329 p.S1110F 0.001 pirsf_Notch,smart_EGF-like,smart_EGF-like_Ca-bd pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 24 0 0.00 42 6 12.50 - - - NPNT 0 genome.wustl.edu 37 4 106861703 106861703 + Frame_Shift_Del DEL T T - TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 4 106861703 106861703 T - DEL NPNT ENST00000379987 human ensembl 69_37n +1 known frame_shift_del c.673 p.C225fs 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pfam_MAM_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_TIL_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors NPNT HGNC ENSG00000168743 40 0 0.00 39 27 40.30 - - - OGFR 0 genome.wustl.edu 37 20 61444633 61444633 + Missense_Mutation SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 20 61444633 61444633 G A SNP OGFR ENST00000290291 human ensembl 69_37n +1 known missense c.1666 p.E556K 0.040 pfam_OGF_rcpt_rpt pfam_OGF_rcpt,pfam_OGF_rcpt_rpt - no_errors OGFR HGNC ENSG00000060491 16 0 0.00 43 14 24.56 - - - OR6F1 0 genome.wustl.edu 37 1 247875683 247875683 + Silent SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 1 247875683 247875683 G A SNP OR6F1 ENST00000302084 human ensembl 69_37n -1 known silent c.375 p.A125 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 OR6F1 HGNC ENSG00000169214 17 0 0.00 47 12 20.34 - - - OTOG 0 genome.wustl.edu 37 11 17580087 17580087 + Silent SNP C C T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 11 17580087 17580087 C T SNP OTOG ENST00000399391 human ensembl 69_37n +1 known silent c.1035 p.G345 0.928 smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,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,pfscan_EG-like_dom - no_errors OTOG HGNC ENSG00000188162 26 0 0.00 37 33 47.14 - - - PDE6C 0 genome.wustl.edu 37 10 95386562 95386562 + Silent SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 10 95386562 95386562 G A SNP PDE6C ENST00000371447 human ensembl 69_37n +1 known silent c.1005 p.P335 0.953 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6C HGNC ENSG00000095464 61 0 0.00 71 23 24.47 - - - PIK3R4 0 genome.wustl.edu 37 3 130454763 130454763 + Missense_Mutation SNP A A G TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 3 130454763 130454763 A G SNP PIK3R4 ENST00000356763 human ensembl 69_37n -1 known missense c.817 p.F273L 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,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_cat_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 36 0 0.00 36 36 50.00 - - - PKHD1L1 0 genome.wustl.edu 37 8 110439324 110439324 + Missense_Mutation SNP G G C TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 8 110439324 110439324 G C SNP PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known missense c.2939 p.C980S 1.000 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 65 0 0.00 101 29 22.31 - - - PSD 0 genome.wustl.edu 37 10 104172164 104172164 + Silent SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 10 104172164 104172164 G A SNP PSD ENST00000020673 human ensembl 69_37n -1 known silent c.1722 p.A574 0.017 pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7 pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type - no_errors PSD HGNC ENSG00000059915 52 0 0.00 65 38 36.89 - - - PTPRN2 0 genome.wustl.edu 37 7 157926524 157926524 + Silent SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 7 157926524 157926524 G A SNP PTPRN2 ENST00000404321 human ensembl 69_37n -1 known silent c.1470 p.A490 0.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 43 0 0.00 64 38 37.25 - - - RANBP3 0 genome.wustl.edu 37 19 5925680 5925680 + Silent SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 19 5925680 5925680 G A SNP RANBP3 ENST00000340578 human ensembl 69_37n -1 known silent c.882 p.T294 0.003 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 58 0 0.00 72 57 44.19 - - - RASGRP4 0 genome.wustl.edu 37 19 38916711 38916711 + Silent SNP C C T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 19 38916711 38916711 C T SNP RASGRP4 ENST00000587738 human ensembl 69_37n -1 known silent c.21 p.K7 1.000 NULL pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC ENSG00000171777 23 0 0.00 60 32 34.78 - - - RBM45 0 genome.wustl.edu 37 2 178977293 178977293 + Missense_Mutation SNP C C G TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 2 178977293 178977293 C G SNP RBM45 ENST00000286070 human ensembl 69_37n +1 known missense c.20 p.S7C 0.692 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM45 HGNC ENSG00000155636 29 0 0.00 20 12 37.50 - - - SCNM1 0 genome.wustl.edu 37 1 151139102 151139102 + RNA SNP G G T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 1 151139102 151139102 G T SNP SCNM1 ENST00000471039 human ensembl 69_37n +1 putative rna NULL NULL 0.064 - - - no_errors SCNM1 HGNC ENSG00000163156 13 0 0.00 31 19 38.00 - - - SDK2 0 genome.wustl.edu 37 17 71431705 71431705 + Missense_Mutation SNP C C T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 17 71431705 71431705 C T SNP SDK2 ENST00000392650 human ensembl 69_37n -1 known missense c.1079 p.R360H 0.616 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors SDK2 HGNC ENSG00000069188 40 0 0.00 88 18 16.98 - - - SIGLEC5 0 genome.wustl.edu 37 19 52130755 52130755 + Silent SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 19 52130755 52130755 G A SNP SIGLEC5 ENST00000222107 human ensembl 69_37n -1 known silent c.1242 p.N414 0.002 NULL pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC5 HGNC ENSG00000105501 68 0 0.00 106 27 20.30 - - - SLC19A1 0 genome.wustl.edu 37 21 46918318 46918318 + Missense_Mutation SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 21 46918318 46918318 G A SNP SLC19A1 ENST00000567670 human ensembl 69_37n -1 putative missense c.1502 p.A501V 0.291 superfamily_Glu_synth_asu_C pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,superfamily_Glu_synth_asu_C,pirsf_Folate_carrier,tigrfam_Folate_carrier - no_errors SLC19A1 HGNC ENSG00000173638 8 0 0.00 39 41 51.25 - - - SLIT2 0 genome.wustl.edu 37 4 20598129 20598129 + Missense_Mutation SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 4 20598129 20598129 G A SNP SLIT2 ENST00000504154 human ensembl 69_37n +1 known missense c.3412 p.V1138I 0.999 pfam_EGF-like_dom,smart_Fol_N,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom pfam_EGF-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 31 0 0.00 36 43 54.43 - - - SLITRK3 0 genome.wustl.edu 37 3 164906171 164906171 + Silent SNP C C T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 3 164906171 164906171 C T SNP SLITRK3 ENST00000241274 human ensembl 69_37n -1 known silent c.2448 p.K816 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 41 0 0.00 44 15 25.42 - - - SNORA11 0 genome.wustl.edu 37 X 54840889 54840889 + RNA SNP C C T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b X 54840889 54840889 C T SNP SNORA11 ENST00000408789 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SNORA11 HGNC ENSG00000221716 107 0 0.00 136 106 43.62 - - - SRCAP 0 genome.wustl.edu 37 16 30744741 30744741 + Missense_Mutation SNP G G T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 16 30744741 30744741 G T SNP SRCAP ENST00000262518 human ensembl 69_37n +1 known missense c.6268 p.D2090Y 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 16 0 0.00 43 15 25.86 - - - SRD5A1 0 genome.wustl.edu 37 5 6663007 6663007 + Nonsense_Mutation SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 5 6663007 6663007 G A SNP SRD5A1 ENST00000274192 human ensembl 69_37n +1 known nonsense c.641 p.W214* 1.000 pfam_3-oxo-5_a-steroid_4-DH_C,pfam_DUF1295,pirsf_3-oxo-5-alpha-steroid_4-DH,pfscan_3-oxo-5_a-steroid_4-DH_C pfam_3-oxo-5_a-steroid_4-DH_C,pfam_DUF1295,pirsf_3-oxo-5-alpha-steroid_4-DH,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors SRD5A1 HGNC ENSG00000145545 54 0 0.00 117 23 16.43 - - - SYNPO2 0 genome.wustl.edu 37 4 119952660 119952660 + Missense_Mutation SNP T T A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 4 119952660 119952660 T A SNP SYNPO2 ENST00000307142 human ensembl 69_37n +1 known missense c.2730 p.S910R 0.405 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2 HGNC ENSG00000172403 18 0 0.00 26 10 27.78 - - - TBC1D10B 0 genome.wustl.edu 37 16 30376911 30376911 + Missense_Mutation SNP T T A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 16 30376911 30376911 T A SNP TBC1D10B ENST00000409939 human ensembl 69_37n -1 known missense c.961 p.S321C 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10B HGNC ENSG00000169221 44 0 0.00 78 19 19.39 - - - TBC1D8 0 genome.wustl.edu 37 2 101667087 101667087 + Silent SNP C C T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 2 101667087 101667087 C T SNP TBC1D8 ENST00000409318 human ensembl 69_37n -1 known silent c.648 p.P216 0.924 pfam_GRAM,smart_GRAM pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8 HGNC ENSG00000204634 20 0 0.00 37 14 27.45 - - - TNC 0 genome.wustl.edu 37 9 117848957 117848957 + Silent SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 9 117848957 117848957 G A SNP TNC ENST00000350763 human ensembl 69_37n -1 known silent c.1053 p.H351 0.000 pfam_EGF_extracell,smart_EGF-like pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 26 0 0.00 15 31 67.39 - - - TNC 0 genome.wustl.edu 37 9 117849163 117849163 + Silent SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 9 117849163 117849163 G A SNP TNC ENST00000350763 human ensembl 69_37n -1 known silent c.847 p.L283 0.741 smart_EGF-like,pfscan_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EGF-like,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNC HGNC ENSG00000041982 41 0 0.00 15 27 64.29 - - - TOP3B 0 genome.wustl.edu 37 22 22311882 22311882 + Silent SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 22 22311882 22311882 G A SNP TOP3B ENST00000357179 human ensembl 69_37n -1 known silent c.2193 p.S731 0.068 NULL pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 12 0 0.00 13 10 43.48 - - - TTC34 0 genome.wustl.edu 37 1 2704167 2704167 + Missense_Mutation SNP C C T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 1 2704167 2704167 C T SNP TTC34 ENST00000401095 human ensembl 69_37n -1 known missense c.194 p.R65H 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC34 HGNC ENSG00000215912 27 0 0.00 14 30 68.18 - - - TTN 0 genome.wustl.edu 37 2 179594184 179594184 + Silent SNP C C T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 2 179594184 179594184 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.14967 p.L4989 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 23 0 0.00 17 10 37.04 - - - TTN 0 genome.wustl.edu 37 2 179595299 179595299 + Silent SNP C C T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 2 179595299 179595299 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known silent c.14229 p.G4743 0.557 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 47 0 0.00 56 23 29.11 - - - TTN 0 genome.wustl.edu 37 2 179595307 179595307 + Missense_Mutation SNP C C T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 2 179595307 179595307 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.14221 p.D4741N 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 41 0 0.00 51 23 31.08 - - - UGGT2 0 genome.wustl.edu 37 13 96506701 96506701 + Missense_Mutation SNP C C T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 13 96506701 96506701 C T SNP UGGT2 ENST00000376747 human ensembl 69_37n -1 known missense c.4037 p.R1346Q 1.000 pfam_Glyco_trans_8 pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 36 0 0.00 41 10 19.61 - - - USP32P1 0 genome.wustl.edu 37 17 16707369 16707369 + RNA SNP C C T TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 17 16707369 16707369 C T SNP USP32P1 ENST00000341745 human ensembl 69_37n +1 known rna NULL NULL 0.750 - - - no_errors USP32P1 HGNC ENSG00000188933 30 0 0.00 28 29 50.88 - - - UXT 0 genome.wustl.edu 37 X 47518369 47518369 + RNA SNP C C A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b X 47518369 47518369 C A SNP UXT ENST00000485641 human ensembl 69_37n -1 known rna NULL NULL 0.011 - - - no_errors UXT HGNC ENSG00000126756 67 0 0.00 110 30 21.43 - - - VPS52 0 genome.wustl.edu 37 6 33236395 33236395 + Missense_Mutation SNP T T C TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 6 33236395 33236395 T C SNP VPS52 ENST00000445902 human ensembl 69_37n -1 known missense c.580 p.R194G 0.953 pfam_Vps52,pfam_Exocyst_Exoc1 pfam_Vps52,pfam_Exocyst_Exoc1 - no_errors VPS52 HGNC ENSG00000223501 18 0 0.00 20 34 62.96 - - - ZNF44 0 genome.wustl.edu 37 19 12383720 12383720 + Silent SNP T T C TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 19 12383720 12383720 T C SNP ZNF44 ENST00000393337 human ensembl 69_37n -1 known silent c.1494 p.K498 0.259 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 ZNF44 HGNC ENSG00000197857 29 0 0.00 58 23 28.40 - - - ZNF521 0 genome.wustl.edu 37 18 22806796 22806796 + Silent SNP G G A TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 18 22806796 22806796 G A SNP ZNF521 ENST00000361524 human ensembl 69_37n -1 known silent c.1086 p.N362 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 34 0 0.00 26 21 44.68 - - - ZNF91 0 genome.wustl.edu 37 19 23543146 23543146 + Missense_Mutation SNP C C G TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 19 23543146 23543146 C G SNP ZNF91 ENST00000300619 human ensembl 69_37n -1 known missense c.2635 p.E879Q 1.000 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,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 13 0 0.00 38 26 40.62 - - - ZNF91 0 genome.wustl.edu 37 19 23543480 23543480 + Missense_Mutation SNP C C G TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 19 23543480 23543480 C G SNP ZNF91 ENST00000300619 human ensembl 69_37n -1 known missense c.2301 p.E767D 1.000 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,pfscan_Krueppel-associated_box - no_errors ZNF91 HGNC ENSG00000167232 36 0 0.00 51 31 37.80 - - - ZNF91 0 genome.wustl.edu 37 19 23543820 23543820 + Missense_Mutation SNP C C G TCGA-EW-A423-01A-11D-A243-09 TCGA-EW-A423-10A-01D-A243-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0077cf20-d598-4e04-863c-534e3386580e 5c24d17e-b10e-4b8e-9250-f0ed71fd4e3b 19 23543820 23543820 C G SNP ZNF91 ENST00000300619 human ensembl 69_37n -1 known missense c.1961 p.G654A 0.996 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 ZNF91 HGNC ENSG00000167232 14 0 0.00 39 32 45.07 - - -