Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCD3 0 genome.wustl.edu 37 1 94964343 94964343 + Missense_Mutation SNP G G T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 1 94964343 94964343 G T SNP ABCD3 ENST00000454898 human ensembl 74_37 +1 known missense c.1541 p.W514L 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_FA_transporter pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter - no_errors ABCD3 HGNC ENSG00000117528 46 0 0.00 73 4 5.19 ADAMTS18 0 genome.wustl.edu 37 16 77323161 77323161 + Nonsense_Mutation SNP C C A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 16 77323161 77323161 C A SNP ADAMTS18 ENST00000282849 human ensembl 74_37 -1 known nonsense c.3550 p.E1184* 1.000 pfscan_PLAC pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS18 HGNC ENSG00000140873 tier1 - - 53 0 0.00 30 10 25.00 AFAP1 0 genome.wustl.edu 37 4 7845040 7845040 + Silent SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 4 7845040 7845040 C T SNP AFAP1 ENST00000420658 human ensembl 74_37 -1 known silent c.372 p.S124 0.119 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1 HGNC ENSG00000196526 68 0 0.00 74 4 5.13 AHCTF1 0 genome.wustl.edu 37 1 247065950 247065950 + Missense_Mutation SNP T T C TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 1 247065950 247065950 T C SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.1021 p.T341A 1.000 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 37 0 0.00 72 4 5.26 AK5 0 genome.wustl.edu 37 1 77748056 77748056 + Nonsense_Mutation SNP G G T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 1 77748056 77748056 G T SNP AK5 ENST00000354567 human ensembl 74_37 +1 known nonsense c.58 p.E20* 1.000 pfam_Dpy-30_motif,superfamily_cAMP_dep_PK_reg_su_I/II_a/b pfam_Adenylate_kin,pfam_Dpy-30_motif,superfamily_P-loop_NTPase,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,prints_Adenylate_kin,tigrfam_Adenylate_kin1 - no_errors AK5 HGNC ENSG00000154027 tier1 - - 76 0 0.00 80 18 18.37 AKT1S1 0 genome.wustl.edu 37 19 50376254 50376254 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 19 50376254 50376254 C T SNP AKT1S1 ENST00000344175 human ensembl 74_37 -1 known missense c.299 p.R100K 0.097 NULL NULL - no_errors AKT1S1 HGNC ENSG00000204673 62 0 0.00 38 10 16.13 AKT1S1 0 genome.wustl.edu 37 19 50376255 50376255 + Nonsense_Mutation SNP T T A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 19 50376255 50376255 T A SNP AKT1S1 ENST00000344175 human ensembl 74_37 -1 known nonsense c.298 p.R100* 0.008 NULL NULL - no_errors AKT1S1 HGNC ENSG00000204673 62 0 0.00 37 9 19.57 AKT1S1 0 genome.wustl.edu 37 19 50376260 50376260 + Missense_Mutation SNP A A G TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 19 50376260 50376260 A G SNP AKT1S1 ENST00000344175 human ensembl 74_37 -1 known missense c.293 p.L98P 0.094 NULL NULL - no_errors AKT1S1 HGNC ENSG00000204673 61 0 0.00 35 8 18.18 ALKBH3 0 genome.wustl.edu 37 11 43918889 43918889 + Silent SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 11 43918889 43918889 G A SNP ALKBH3 ENST00000532962 human ensembl 74_37 +1 known silent c.515 p.*172 0.915 NULL NULL - no_errors ALKBH3 HGNC ENSG00000166199 tier1 - - 37 0 0.00 22 15 39.47 APBB3 0 genome.wustl.edu 37 5 139941700 139941700 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 5 139941700 139941700 C T SNP APBB3 ENST00000356738 human ensembl 74_37 -1 known missense c.611 p.G204E 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB3 HGNC ENSG00000113108 tier1 - - 26 0 0.00 27 5 15.62 ARHGAP5 0 genome.wustl.edu 37 14 32561340 32561340 + Missense_Mutation SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 14 32561340 32561340 G A SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.1465 p.E489K 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 tier1 rs78337553 - 34 0 0.00 54 8 12.90 ATP6V0C 0 genome.wustl.edu 37 16 2569636 2569636 + Missense_Mutation SNP G G T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 16 2569636 2569636 G T SNP ATP6V0C ENST00000330398 human ensembl 74_37 +1 known missense c.358 p.G120C 1.000 pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_proteolipid_csu pfam_ATPase_proteolipid_c_like_dom,superfamily_ATPase_proteolipid_c_like_dom,prints_ATPase_proteolipid_csu,tigrfam_ATPase_proteolipid_su_C_euk - no_errors ATP6V0C HGNC ENSG00000185883 19 0 0.00 36 2 5.26 BCR 0 genome.wustl.edu 37 22 23596130 23596130 + Missense_Mutation SNP A A T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 22 23596130 23596130 A T SNP BCR ENST00000305877 human ensembl 74_37 +1 known missense c.1424 p.D475V 0.997 superfamily_DH-domain pfam_RhoGAP_dom,pfam_Bcr-Abl_oncoprot_oligo,pfam_DH-domain,pfam_C2_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_DH-domain,superfamily_Bcr-Abl_oncoprot_oligo,superfamily_C2_dom,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RhoGAP_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom,pfscan_DH-domain - no_errors BCR HGNC ENSG00000186716 tier1 - - 31 0 0.00 20 17 45.95 BET1L 0 genome.wustl.edu 37 11 180261 180261 + Silent SNP A A T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 11 180261 180261 A T SNP BET1L ENST00000410108 human ensembl 74_37 -1 putative silent c.312 p.A104 0.020 NULL pfscan_T_SNARE_dom - no_errors BET1L HGNC ENSG00000177951 tier1 rs201966829 - 14 0 0.00 4 4 50.00 C11orf87 0 genome.wustl.edu 37 11 109294496 109294496 + Missense_Mutation SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 11 109294496 109294496 G A SNP C11orf87 ENST00000327419 human ensembl 74_37 +1 known missense c.137 p.C46Y 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors C11orf87 HGNC ENSG00000185742 tier1 - - 40 0 0.00 35 4 10.26 C2CD2L 0 genome.wustl.edu 37 11 118981761 118981761 + Splice_Site SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 11 118981761 118981761 G A SNP C2CD2L ENST00000336702 human ensembl 74_37 +1 known splice_site c.682-1 e5-1 1.000 - - - no_errors C2CD2L HGNC ENSG00000172375 tier1 - - 26 0 0.00 9 9 50.00 C6 0 genome.wustl.edu 37 5 41160290 41160290 + Silent SNP G G C TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 5 41160290 41160290 G C SNP C6 ENST00000263413 human ensembl 74_37 -1 known silent c.1638 p.G546 0.828 NULL pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 tier1 - - 69 0 0.00 77 12 13.48 CCDC30 0 genome.wustl.edu 37 1 42948563 42948563 + RNA DEL A A - TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 1 42948563 42948563 A - DEL CCDC30 ENST00000475614 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors CCDC30 HGNC ENSG00000186409 tier1 20 0 0.00 24 5 17.24 CCDC85A 0 genome.wustl.edu 37 2 56420246 56420246 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 2 56420246 56420246 C T SNP CCDC85A ENST00000407595 human ensembl 74_37 +1 known missense c.911 p.T304M 0.524 NULL pfam_DUF2216_coiled-coil - no_errors CCDC85A HGNC ENSG00000055813 20 0 0.00 41 5 10.87 CD109 0 genome.wustl.edu 37 6 74446224 74446224 + Missense_Mutation SNP A A G TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 6 74446224 74446224 A G SNP CD109 ENST00000287097 human ensembl 74_37 +1 known missense c.626 p.Q209R 1.000 pfam_A2M_N pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 23 0 0.00 30 5 14.29 CD53 0 genome.wustl.edu 37 1 111441937 111441937 + RNA SNP G G T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 1 111441937 111441937 G T SNP CD53 ENST00000464329 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CD53 HGNC ENSG00000143119 tier1 - - 20 0 0.00 27 9 25.00 CEACAM20 0 genome.wustl.edu 37 19 45015728 45015728 + RNA SNP C C A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 19 45015728 45015728 C A SNP CEACAM20 ENST00000316962 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CEACAM20 HGNC ENSG00000176395 tier1 - - 40 0 0.00 43 7 14.00 CHST3 0 genome.wustl.edu 37 10 73768109 73768109 + Silent SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 10 73768109 73768109 G A SNP CHST3 ENST00000373115 human ensembl 74_37 +1 known silent c.1320 p.V440 0.986 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 tier1 - - 35 0 0.00 38 4 9.52 CIAO1 0 genome.wustl.edu 37 2 96934194 96934194 + Splice_Site SNP G G T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 2 96934194 96934194 G T SNP CIAO1 ENST00000488633 human ensembl 74_37 +1 known splice_site c.490-1 e5-1 1.000 - - - no_errors CIAO1 HGNC ENSG00000144021 tier1 - - 55 0 0.00 47 20 29.85 CLCN2 0 genome.wustl.edu 37 3 184075627 184075627 + Silent SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 3 184075627 184075627 G A SNP CLCN2 ENST00000265593 human ensembl 74_37 -1 known silent c.633 p.I211 0.229 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2 - no_errors CLCN2 HGNC ENSG00000114859 tier1 - - 53 0 0.00 56 18 24.32 COL14A1 0 genome.wustl.edu 37 8 121262859 121262859 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 8 121262859 121262859 C T SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.2606 p.P869L 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 tier1 - - 35 0 0.00 51 9 15.00 COLEC11 0 genome.wustl.edu 37 2 3653823 3653823 + Silent SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 2 3653823 3653823 C T SNP COLEC11 ENST00000403096 human ensembl 74_37 +1 putative silent c.42 p.C14 0.002 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC11 HGNC ENSG00000118004 tier1 - - 114 0 0.00 122 30 19.48 CRELD2 0 genome.wustl.edu 37 22 50316310 50316310 + Missense_Mutation SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 22 50316310 50316310 G A SNP CRELD2 ENST00000404488 human ensembl 74_37 +1 known missense c.790 p.G264S 0.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_EG-like_dom pfam_DUF3456,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_Furin_repeat,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors CRELD2 HGNC ENSG00000184164 tier1 - - 62 0 0.00 48 12 20.00 DDR1 0 genome.wustl.edu 37 6 30862388 30862388 + Nonsense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 6 30862388 30862388 C T SNP DDR1 ENST00000376575 human ensembl 74_37 +1 known nonsense c.1453 p.Q485* 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_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_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 tier1 - - 43 0 0.00 51 25 32.89 DMD 0 genome.wustl.edu 37 X 32486663 32486663 + Silent SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 X 32486663 32486663 C T SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.3114 p.E1038 0.002 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 17 0 0.00 24 4 14.29 DNAH5 0 genome.wustl.edu 37 5 13766149 13766149 + Missense_Mutation SNP G G C TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 5 13766149 13766149 G C SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.10037 p.T3346S 0.004 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 24 0 0.00 37 3 7.50 DNAH8 0 genome.wustl.edu 37 6 38743675 38743675 + Missense_Mutation SNP C C G TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 6 38743675 38743675 C G SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.1259 p.T420R 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 tier1 - - 31 0 0.00 46 4 7.84 DOK1 0 genome.wustl.edu 37 2 74784044 74784044 + Missense_Mutation SNP A A T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 2 74784044 74784044 A T SNP DOK1 ENST00000233668 human ensembl 74_37 +1 known missense c.1249 p.T417S 0.707 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1 - no_errors DOK1 HGNC ENSG00000115325 tier1 - - 18 0 0.00 11 7 38.89 EBF1 0 genome.wustl.edu 37 5 158158087 158158087 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 5 158158087 158158087 C T SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known missense c.1115 p.R372H 1.000 superfamily_bHLH_dom pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 tier1 rs200547458 - 32 0 0.00 24 13 35.14 ELAVL4 0 genome.wustl.edu 37 1 50610816 50610816 + Missense_Mutation SNP T T G TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 1 50610816 50610816 T G SNP ELAVL4 ENST00000371821 human ensembl 74_37 +1 known missense c.212 p.F71C 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL4 HGNC ENSG00000162374 tier1 - - 28 0 0.00 78 6 7.14 ENSG00000214184 0 genome.wustl.edu 37 2 109128180 109128183 + RNA DEL AGCC AGCC - TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 AGCC AGCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 2 109128180 109128183 AGCC 0 DEL ENSG00000214184 ENST00000440975 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.001:0.001:0.002 - - - no_errors AC012487.2 Clone_based_vega_gene ENSG00000214184 10 0 0.00 20 13 39.39 EPS15 0 genome.wustl.edu 37 1 51864773 51864773 + Missense_Mutation SNP T T G TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 1 51864773 51864773 T G SNP EPS15 ENST00000371733 human ensembl 74_37 -1 known missense c.1983 p.Q661H 0.792 NULL smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15 HGNC ENSG00000085832 tier1 - - 23 0 0.00 23 25 52.08 ESPL1 0 genome.wustl.edu 37 12 53677897 53677897 + Missense_Mutation SNP G G T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 12 53677897 53677897 G T SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.3133 p.D1045Y 0.993 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 tier1 - - 59 0 0.00 55 4 6.78 FAT2 0 genome.wustl.edu 37 5 150923097 150923097 + Missense_Mutation SNP T T C TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 5 150923097 150923097 T C SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.7591 p.I2531V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 41 0 0.00 18 30 62.50 FBXO10 0 genome.wustl.edu 37 9 37518154 37518154 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 9 37518154 37518154 C T SNP FBXO10 ENST00000432825 human ensembl 74_37 -1 known missense c.2482 p.G828R 1.000 superfamily_Pectin_lyase_fold/virulence pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO10 HGNC ENSG00000147912 tier1 - - 43 0 0.00 31 13 29.55 FGF9 0 genome.wustl.edu 37 13 22246309 22246309 + Missense_Mutation SNP G G T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 13 22246309 22246309 G T SNP FGF9 ENST00000382353 human ensembl 74_37 +1 known missense c.258 p.R86S 1.000 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF9 HGNC ENSG00000102678 tier1 - - 61 0 0.00 53 4 7.02 FIP1L1 0 genome.wustl.edu 37 4 54249970 54249970 + Missense_Mutation SNP A A T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 4 54249970 54249970 A T SNP FIP1L1 ENST00000337488 human ensembl 74_37 +1 known missense c.259 p.S87C 1.000 NULL pfam_Fip1 - no_errors FIP1L1 HGNC ENSG00000145216 tier1 - - 40 0 0.00 62 20 24.39 GH1 0 genome.wustl.edu 37 17 61995831 61995831 + Missense_Mutation SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 17 61995831 61995831 G A SNP GH1 ENST00000323322 human ensembl 74_37 -1 known missense c.46 p.L16F 0.940 pfam_Somatotropin pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors GH1 HGNC ENSG00000259384 tier1 - - 40 0 0.00 56 6 9.68 GPR142 0 genome.wustl.edu 37 17 72367895 72367895 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 17 72367895 72367895 C T SNP GPR142 ENST00000335666 human ensembl 74_37 +1 known missense c.545 p.A182V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR142 HGNC ENSG00000257008 tier1 - - 31 0 0.00 32 8 20.00 HDAC3 0 genome.wustl.edu 37 5 141008140 141008140 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 5 141008140 141008140 C T SNP HDAC3 ENST00000305264 human ensembl 74_37 -1 known missense c.677 p.G226D 1.000 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1 pfam_His_deacetylse_dom,pirsf_His_deacetylse_1,prints_His_deacetylse_1,prints_His_deacetylse - no_errors HDAC3 HGNC ENSG00000171720 tier1 - - 39 0 0.00 48 4 7.69 HERC1 0 genome.wustl.edu 37 15 64005610 64005610 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 15 64005610 64005610 C T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.4405 p.E1469K 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 22 0 0.00 32 13 28.89 HOXA10 0 genome.wustl.edu 37 7 27213291 27213291 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 7 27213291 27213291 C T SNP HOXA10 ENST00000283921 human ensembl 74_37 -1 known missense c.635 p.G212D 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA10 HGNC ENSG00000253293 tier1 - - 35 0 0.00 32 7 17.95 ITGA2 0 genome.wustl.edu 37 5 52370296 52370296 + Missense_Mutation SNP A A G TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 5 52370296 52370296 A G SNP ITGA2 ENST00000296585 human ensembl 74_37 +1 known missense c.2653 p.R885G 0.115 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA2 HGNC ENSG00000164171 tier1 - - 43 0 0.00 24 23 48.94 ITSN1 0 genome.wustl.edu 37 21 35257345 35257345 + Missense_Mutation SNP G G T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 21 35257345 35257345 G T SNP ITSN1 ENST00000381285 human ensembl 74_37 +1 known missense c.4677 p.R1559S 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 tier1 - - 55 0 0.00 56 5 8.20 KIAA0930 0 genome.wustl.edu 37 22 45593679 45593679 + Missense_Mutation SNP A A C TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 22 45593679 45593679 A C SNP KIAA0930 ENST00000251993 human ensembl 74_37 -1 known missense c.1181 p.I394S 1.000 NULL pfam_DUF2045 - no_errors KIAA0930 HGNC ENSG00000100364 tier1 - - 52 0 0.00 38 11 22.45 KIF3B 0 genome.wustl.edu 37 20 30918046 30918046 + Missense_Mutation SNP G G T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 20 30918046 30918046 G T SNP KIF3B ENST00000375712 human ensembl 74_37 +1 known missense c.2071 p.A691S 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3B HGNC ENSG00000101350 35 0 0.00 47 3 6.00 LDB1 0 genome.wustl.edu 37 10 103870344 103870344 + Missense_Mutation SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 10 103870344 103870344 G A SNP LDB1 ENST00000425280 human ensembl 74_37 -1 known missense c.467 p.S156F 1.000 NULL NULL - no_errors LDB1 HGNC ENSG00000198728 tier1 - - 42 0 0.00 18 26 59.09 LINC00969 0 genome.wustl.edu 37 3 195398249 195398249 + RNA SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 3 195398249 195398249 G A SNP LINC00969 ENST00000453324 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00969 HGNC ENSG00000242086 39 0 0.00 95 6 5.88 LINC00987 0 genome.wustl.edu 37 12 9395192 9395192 + RNA SNP C C G TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 12 9395192 9395192 C G SNP LINC00987 ENST00000427111 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors LINC00987 HGNC ENSG00000237248 tier1 - - 41 0 0.00 105 25 19.23 LOC100287792 0 genome.wustl.edu 37 20 36305343 36305343 + RNA DEL C C - TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 20 36305343 36305343 C 0 DEL LOC100287792 ENST00000373508 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP4-640H8.2 Clone_based_vega_gene ENSG00000204117 12 0 0.00 28 7 20.00 LRRC29 0 genome.wustl.edu 37 16 67244286 67244286 + RNA SNP C C A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 16 67244286 67244286 C A SNP LRRC29 ENST00000462169 human ensembl 74_37 -1 putative rna NULL NULL 0.993 - - - no_errors LRRC29 HGNC ENSG00000125122 tier1 - - 14 0 0.00 8 5 38.46 MAP2K2 0 genome.wustl.edu 37 19 4099225 4099225 + Missense_Mutation SNP G G T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 19 4099225 4099225 G T SNP MAP2K2 ENST00000262948 human ensembl 74_37 -1 known missense c.893 p.P298Q 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K2 HGNC ENSG00000126934 56 0 0.00 32 3 8.57 MAP3K5 0 genome.wustl.edu 37 6 137041712 137041712 + Missense_Mutation SNP T T A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 6 137041712 137041712 T A SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known missense c.464 p.E155V 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K5 HGNC ENSG00000197442 tier1 - - 49 0 0.00 64 21 24.71 MAX 0 genome.wustl.edu 37 14 65543336 65543336 + Missense_Mutation SNP T T C TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 14 65543336 65543336 T C SNP MAX ENST00000358664 human ensembl 74_37 -1 known missense c.341 p.N114S 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MAX HGNC ENSG00000125952 tier1 - - 58 0 0.00 29 25 45.45 MECOM 0 genome.wustl.edu 37 3 168825727 168825727 + Missense_Mutation SNP T T A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 3 168825727 168825727 T A SNP MECOM ENST00000264674 human ensembl 74_37 -1 known missense c.2222 p.D741V 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 tier1 - - 35 0 0.00 50 11 18.03 METTL21EP 0 genome.wustl.edu 37 13 103544905 103544906 + RNA INS - - T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 13 103544905 103544906 - T INS METTL21EP ENST00000605100 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors METTL21EP HGNC ENSG00000250878 tier1 11 0 0.00 22 3 12.00 METTL21EP 0 genome.wustl.edu 37 13 103544906 103544906 + RNA DEL T T - TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 13 103544906 103544906 T - DEL METTL21EP ENST00000605100 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors METTL21EP HGNC ENSG00000250878 tier1 11 0 0.00 19 5 20.83 MIR1302-3 0 genome.wustl.edu 37 2 114340606 114340606 + RNA SNP A A T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 2 114340606 114340606 A T SNP MIR1302-3 ENST00000408128 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors MIR1302-3 HGNC ENSG00000221055 tier1 - - 276 0 0.00 447 62 12.18 MIR523 0 genome.wustl.edu 37 19 54201690 54201690 + RNA SNP A A C TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 19 54201690 54201690 A C SNP MIR523 ENST00000385281 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors MIR523 HGNC ENSG00000208016 tier1 - - 69 0 0.00 81 14 14.74 MIR523 0 genome.wustl.edu 37 19 54201716 54201716 + RNA SNP C C A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 19 54201716 54201716 C A SNP MIR523 ENST00000385281 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR523 HGNC ENSG00000208016 tier1 - - 53 0 0.00 74 7 8.64 MST1L 0 genome.wustl.edu 37 1 17083597 17083597 + RNA SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 1 17083597 17083597 G A SNP MST1L ENST00000455405 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MST1L HGNC ENSG00000186715 55 0 0.00 59 5 7.81 NAP1L4 0 genome.wustl.edu 37 11 2979674 2979674 + Missense_Mutation SNP G G C TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 11 2979674 2979674 G C SNP NAP1L4 ENST00000380542 human ensembl 74_37 -1 known missense c.847 p.Q283E 0.959 pfam_NAP_family pfam_NAP_family - no_errors NAP1L4 HGNC ENSG00000205531 tier1 - - 80 0 0.00 64 18 21.95 NECAB1 0 genome.wustl.edu 37 8 91962058 91962058 + Missense_Mutation SNP A A T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 8 91962058 91962058 A T SNP NECAB1 ENST00000417640 human ensembl 74_37 +1 known missense c.884 p.N295I 1.000 pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors NECAB1 HGNC ENSG00000123119 tier1 - - 65 0 0.00 112 9 7.44 NOTCH1 0 genome.wustl.edu 37 9 139400294 139400294 + Frame_Shift_Del DEL A A - TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 9 139400294 139400294 A - DEL NOTCH1 ENST00000277541 human ensembl 74_37 -1 known frame_shift_del c.4054 p.C1352fs 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 tier1 15 0 0.00 6 7 53.85 NOTCH3 0 genome.wustl.edu 37 19 15300089 15300089 + Missense_Mutation SNP G G T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 19 15300089 15300089 G T SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.1187 p.S396Y 1.000 pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 - - 54 0 0.00 48 51 51.52 NOTCH3 0 genome.wustl.edu 37 19 15300181 15300181 + Silent SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 19 15300181 15300181 G A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known silent c.1095 p.I365 1.000 pirsf_Notch,pfam_EG-like_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 - - 37 0 0.00 32 35 52.24 NOTCH3 0 genome.wustl.edu 37 19 15300208 15300208 + Silent SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 19 15300208 15300208 G A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known silent c.1068 p.V356 1.000 pirsf_Notch,pfam_EG-like_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 - - 21 0 0.00 27 28 50.91 NOTCH3 0 genome.wustl.edu 37 19 15303192 15303192 + Silent SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 19 15303192 15303192 G A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known silent c.336 p.F112 1.000 pirsf_Notch,smart_EG-like_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 tier1 - - 84 0 0.00 63 85 57.43 NPHP3 0 genome.wustl.edu 37 3 132423181 132423181 + Missense_Mutation SNP G G C TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 3 132423181 132423181 G C SNP NPHP3 ENST00000337331 human ensembl 74_37 -1 known missense c.1385 p.T462S 0.000 superfamily_P-loop_NTPase pfam_TPR_1,pfam_TPR-3,superfamily_P-loop_NTPase,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors NPHP3 HGNC ENSG00000113971 tier1 - - 19 0 0.00 42 31 42.47 NR2F2 0 genome.wustl.edu 37 15 96877712 96877712 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 15 96877712 96877712 C T SNP NR2F2 ENST00000394166 human ensembl 74_37 +1 known missense c.850 p.R284W 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_COUP_TF pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_COUP_TF,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors NR2F2 HGNC ENSG00000185551 tier1 - - 44 0 0.00 43 6 12.24 NTRK2 0 genome.wustl.edu 37 9 87339229 87339229 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 9 87339229 87339229 C T SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known missense c.811 p.L271F 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 52 0 0.00 49 3 5.77 NUBP1 0 genome.wustl.edu 37 16 10855708 10855708 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 16 10855708 10855708 C T SNP NUBP1 ENST00000283027 human ensembl 74_37 +1 known missense c.812 p.P271L 1.000 superfamily_P-loop_NTPase pfam_ATPase-like_ParA/MinD,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Anion-transp_ATPase-like_dom,pfam_ATPase_MipZ/NubP2/Cfd1,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors NUBP1 HGNC ENSG00000103274 tier1 - - 46 0 0.00 32 22 40.74 NWD1 0 genome.wustl.edu 37 19 16918782 16918782 + Silent SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 19 16918782 16918782 C T SNP NWD1 ENST00000379808 human ensembl 74_37 +1 known silent c.4122 p.Y1374 0.995 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 tier1 - - 44 0 0.00 38 8 17.39 NYNRIN 0 genome.wustl.edu 37 14 24880309 24880309 + Silent SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 14 24880309 24880309 C T SNP NYNRIN ENST00000382554 human ensembl 74_37 +1 known silent c.2442 p.C814 1.000 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 tier1 - - 55 0 0.00 33 5 13.16 OGT 0 genome.wustl.edu 37 X 70787359 70787359 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 X 70787359 70787359 C T SNP OGT ENST00000373719 human ensembl 74_37 +1 known missense c.2599 p.R867C 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors OGT HGNC ENSG00000147162 tier1 - - 18 0 0.00 13 28 68.29 OR2T12 0 genome.wustl.edu 37 1 248457987 248457987 + Silent SNP G G T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 1 248457987 248457987 G T SNP OR2T12 ENST00000317996 human ensembl 74_37 -1 known silent c.894 p.A298 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T12 HGNC ENSG00000177201 tier1 - - 98 0 0.00 95 19 16.67 PCDHB11 0 genome.wustl.edu 37 5 140580326 140580326 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 5 140580326 140580326 C T SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.979 p.L327F 0.881 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 30 0 0.00 36 7 16.28 PCLO 0 genome.wustl.edu 37 7 82785098 82785098 + Missense_Mutation SNP C C G TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 7 82785098 82785098 C G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.859 p.D287H 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 17 0 0.00 30 4 11.76 PFDN2 0 genome.wustl.edu 37 1 161070556 161070556 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 1 161070556 161070556 C T SNP PFDN2 ENST00000368010 human ensembl 74_37 -1 known missense c.382 p.G128R 1.000 pfam_PFD_beta-like pfam_PFD_beta-like,superfamily_Prefoldin - no_errors PFDN2 HGNC ENSG00000143256 tier1 - - 71 0 0.00 146 8 5.19 PFDN5 0 genome.wustl.edu 37 12 53690038 53690038 + Silent SNP A A G TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 12 53690038 53690038 A G SNP PFDN5 ENST00000551018 human ensembl 74_37 +1 known silent c.186 p.L62 0.999 pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,tigrfam_PFD_alpha pfam_Prefoldin_subunit_alpha,superfamily_Prefoldin,tigrfam_PFD_alpha - no_errors PFDN5 HGNC ENSG00000123349 tier1 - - 37 0 0.00 28 24 46.15 PGR 0 genome.wustl.edu 37 11 100999704 100999704 + Missense_Mutation SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 11 100999704 100999704 G A SNP PGR ENST00000325455 human ensembl 74_37 -1 known missense c.98 p.A33V 0.001 pfam_Progest_rcpt pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 tier1 - - 32 0 0.00 13 16 55.17 PLA2G15 0 genome.wustl.edu 37 16 68289855 68289855 + Frame_Shift_Del DEL G G - TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 16 68289855 68289855 G - DEL PLA2G15 ENST00000219345 human ensembl 74_37 +1 known frame_shift_del c.689 p.G232fs 1.000 pfam_LACT/PDAT_acylTrfase pfam_LACT/PDAT_acylTrfase - no_errors PLA2G15 HGNC ENSG00000103066 tier1 49 0 0.00 20 2 9.09 PRPF3 0 genome.wustl.edu 37 1 150318737 150318737 + RNA SNP C C G TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 1 150318737 150318737 C G SNP PRPF3 ENST00000476970 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PRPF3 HGNC ENSG00000117360 tier1 - - 17 0 0.00 20 10 33.33 PRPF38B 0 genome.wustl.edu 37 1 109239448 109239448 + RNA SNP G G T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 1 109239448 109239448 G T SNP PRPF38B ENST00000467302 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PRPF38B HGNC ENSG00000134186 tier1 - - 61 0 0.00 42 20 32.26 PRPF38B 0 genome.wustl.edu 37 1 109239449 109239449 + RNA SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 1 109239449 109239449 C T SNP PRPF38B ENST00000467302 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors PRPF38B HGNC ENSG00000134186 tier1 - - 60 0 0.00 44 20 31.25 PUF60 0 genome.wustl.edu 37 8 144900169 144900169 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 8 144900169 144900169 C T SNP PUF60 ENST00000526683 human ensembl 74_37 -1 known missense c.680 p.R227H 1.000 smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd - no_errors PUF60 HGNC ENSG00000179950 tier1 - - 69 0 0.00 76 22 22.45 RASGRF1 0 genome.wustl.edu 37 15 79310155 79310155 + Nonsense_Mutation SNP G G T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 15 79310155 79310155 G T SNP RASGRF1 ENST00000419573 human ensembl 74_37 -1 known nonsense c.1700 p.S567* 0.998 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 tier1 - - 54 0 0.00 44 32 42.11 RBM6 0 genome.wustl.edu 37 3 50012786 50012786 + Missense_Mutation SNP A A T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 3 50012786 50012786 A T SNP RBM6 ENST00000266022 human ensembl 74_37 +1 known missense c.1444 p.M482L 0.005 smart_RRM_dom,pfscan_RRM_dom pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 tier1 - - 57 0 0.00 29 20 40.82 RBP3 0 genome.wustl.edu 37 10 48389039 48389039 + Silent SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 10 48389039 48389039 G A SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known silent c.1839 p.P613 0.028 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 tier1 - - 30 0 0.00 38 8 17.39 RHCE 0 genome.wustl.edu 37 1 25718576 25718576 + Silent SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 1 25718576 25718576 C T SNP RHCE ENST00000294413 human ensembl 74_37 -1 known silent c.543 p.L181 0.990 pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHCE HGNC ENSG00000188672 tier1 - - 137 0 0.00 123 68 35.60 RUFY1 0 genome.wustl.edu 37 5 179004112 179004112 + Missense_Mutation SNP G G T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 5 179004112 179004112 G T SNP RUFY1 ENST00000319449 human ensembl 74_37 +1 known missense c.865 p.V289L 0.360 NULL 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 53 0 0.00 74 6 7.50 RUNX1T1 0 genome.wustl.edu 37 8 92972690 92972690 + Missense_Mutation SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 8 92972690 92972690 G A SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known missense c.1628 p.A543V 1.000 pfam_Znf_MYND,pfscan_Znf_MYND,prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 tier1 - - 36 0 0.00 59 7 10.61 SDHA 0 genome.wustl.edu 37 5 236628 236628 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 5 236628 236628 C T SNP SDHA ENST00000264932 human ensembl 74_37 +1 known missense c.1346 p.A449V 1.000 pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Succ_DH/fumarate_Rdtase_cat,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg - no_errors SDHA HGNC ENSG00000073578 104 0 0.00 145 8 5.23 SEC22B 0 genome.wustl.edu 37 1 145116311 145116311 + RNA DEL G G - TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 1 145116311 145116311 G 0 DEL SEC22B ENST00000453618 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors SEC22B HGNC ENSG00000223380 61 0 0.00 115 8 6.50 SELV 0 genome.wustl.edu 37 19 40006041 40006041 + Silent SNP T T C TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 19 40006041 40006041 T C SNP SELV ENST00000423711 human ensembl 74_37 +1 known silent c.189 p.T63 0.017 NULL pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ - no_errors SELV Uniprot_gn ENSG00000186838 tier1 - - 37 0 0.00 34 7 17.07 SLC25A36 0 genome.wustl.edu 37 3 140692768 140692768 + Silent SNP A A G TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 3 140692768 140692768 A G SNP SLC25A36 ENST00000324194 human ensembl 74_37 +1 known silent c.663 p.K221 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Mit_uncoupling - no_errors SLC25A36 HGNC ENSG00000114120 tier1 - - 41 0 0.00 36 15 29.41 SLC30A5 0 genome.wustl.edu 37 5 68396658 68396658 + Silent SNP A A G TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 5 68396658 68396658 A G SNP SLC30A5 ENST00000396591 human ensembl 74_37 +1 known silent c.108 p.L36 0.435 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC ENSG00000145740 tier1 - - 25 0 0.00 10 16 61.54 SLC47A1 0 genome.wustl.edu 37 17 19480714 19480714 + Missense_Mutation SNP A A T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 17 19480714 19480714 A T SNP SLC47A1 ENST00000395585 human ensembl 74_37 +1 known missense c.1561 p.M521L 0.007 NULL pfam_MATE,tigrfam_MATE - no_errors SLC47A1 HGNC ENSG00000142494 tier1 - - 39 0 0.00 19 20 51.28 SLC6A1 0 genome.wustl.edu 37 3 11064120 11064120 + Missense_Mutation SNP T T C TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 3 11064120 11064120 T C SNP SLC6A1 ENST00000287766 human ensembl 74_37 +1 known missense c.680 p.F227S 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1,pfscan_Na/ntran_symport - no_errors SLC6A1 HGNC ENSG00000157103 tier1 - - 76 0 0.00 39 10 20.41 SMAP1 0 genome.wustl.edu 37 6 71508370 71508370 + Missense_Mutation SNP A A G TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 6 71508370 71508370 A G SNP SMAP1 ENST00000370455 human ensembl 74_37 +1 known missense c.506 p.E169G 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 18 0 0.00 51 3 5.45 SOCS5 0 genome.wustl.edu 37 2 46986968 46986968 + Missense_Mutation SNP G G T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 2 46986968 46986968 G T SNP SOCS5 ENST00000306503 human ensembl 74_37 +1 known missense c.1299 p.W433C 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS5 HGNC ENSG00000171150 tier1 - - 42 0 0.00 42 17 28.81 STXBP5 0 genome.wustl.edu 37 6 147583481 147583481 + Missense_Mutation SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 6 147583481 147583481 G A SNP STXBP5 ENST00000321680 human ensembl 74_37 +1 known missense c.622 p.E208K 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 tier1 - - 58 0 0.00 65 18 21.69 SVIL 0 genome.wustl.edu 37 10 29839859 29839859 + Missense_Mutation SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 10 29839859 29839859 G A SNP SVIL ENST00000355867 human ensembl 74_37 -1 known missense c.494 p.S165F 0.001 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors SVIL HGNC ENSG00000197321 tier1 - - 48 0 0.00 46 7 13.21 SYCP2 0 genome.wustl.edu 37 20 58496487 58496487 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 20 58496487 58496487 C T SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known missense c.46 p.D16N 1.000 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 tier1 - - 29 0 0.00 35 24 40.68 TACC2 0 genome.wustl.edu 37 10 123970420 123970420 + Missense_Mutation SNP G G C TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 10 123970420 123970420 G C SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.6480 p.E2160D 0.963 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 tier1 - - 59 0 0.00 51 29 36.25 TAPBPL 0 genome.wustl.edu 37 12 6566732 6566732 + Silent SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 12 6566732 6566732 C T SNP TAPBPL ENST00000266556 human ensembl 74_37 +1 known silent c.726 p.T242 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors TAPBPL HGNC ENSG00000139192 tier1 - - 52 0 0.00 85 23 21.30 TAS1R2 0 genome.wustl.edu 37 1 19180923 19180923 + Silent SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 1 19180923 19180923 C T SNP TAS1R2 ENST00000375371 human ensembl 74_37 -1 novel silent c.1041 p.P347 0.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R2 HGNC ENSG00000179002 40 0 0.00 55 3 5.17 TAS2R13 0 genome.wustl.edu 37 12 11061567 11061567 + Missense_Mutation SNP T T C TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 12 11061567 11061567 T C SNP TAS2R13 ENST00000390677 human ensembl 74_37 -1 known missense c.331 p.I111V 0.693 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R13 HGNC ENSG00000212128 tier1 - - 28 0 0.00 48 63 56.25 TBC1D23 0 genome.wustl.edu 37 3 100039735 100039736 + Frame_Shift_Ins INS - - A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 3 100039735 100039736 - A INS TBC1D23 ENST00000394144 human ensembl 74_37 +1 known frame_shift_ins c.1938_1939 p.H649fs 1.000:1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Rhodanese-like_dom,superfamily_Rab-GTPase-TBC_dom,superfamily_Rhodanese-like_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Rhodanese-like_dom - no_errors TBC1D23 HGNC ENSG00000036054 tier1 27 0 0.00 34 3 8.11 TBC1D27 0 genome.wustl.edu 37 17 16827248 16827248 + RNA SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 17 16827248 16827248 G A SNP TBC1D27 ENST00000261651 human ensembl 74_37 -1 known rna NULL NULL 0.054 - - - no_errors TBC1D27 HGNC ENSG00000128438 tier1 - - 32 0 0.00 38 7 15.56 TEKT5 0 genome.wustl.edu 37 16 10783831 10783831 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 16 10783831 10783831 C T SNP TEKT5 ENST00000283025 human ensembl 74_37 -1 known missense c.616 p.V206I 1.000 pfam_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT5 HGNC ENSG00000153060 tier1 - - 38 0 0.00 57 4 6.56 THBS2 0 genome.wustl.edu 37 6 169622459 169622459 + Missense_Mutation SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 6 169622459 169622459 G A SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known missense c.3106 p.R1036C 1.000 pfam_Thrombospondin_C,superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 tier1 rs138017175 - 51 0 0.00 50 14 21.88 TMC5 0 genome.wustl.edu 37 16 19485599 19485599 + Splice_Site SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 16 19485599 19485599 G A SNP TMC5 ENST00000396229 human ensembl 74_37 +1 known splice_site c.2090+1 e10+1 1.000 - - - no_errors TMC5 HGNC ENSG00000103534 62 0 0.00 81 6 6.90 TMEFF2 0 genome.wustl.edu 37 2 192820998 192820998 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 2 192820998 192820998 C T SNP TMEFF2 ENST00000272771 human ensembl 74_37 -1 known missense c.852 p.M284I 1.000 pfscan_EG-like_dom pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom - no_errors TMEFF2 HGNC ENSG00000144339 tier1 - - 61 0 0.00 64 28 30.11 TMEM254 0 genome.wustl.edu 37 10 81841942 81841943 + Frame_Shift_Ins INS - - T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 10 81841942 81841943 - T INS TMEM254 ENST00000372281 human ensembl 74_37 +1 known frame_shift_ins c.233_234 p.A79fs 1.000:1.000 NULL NULL - no_errors TMEM254 HGNC ENSG00000133678 tier1 71 0 0.00 65 12 15.58 TP53 0 genome.wustl.edu 37 17 7577530 7577530 + Missense_Mutation SNP T T A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 17 7577530 7577530 T A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.751 p.I251F 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 269 0 0.00 97 136 58.37 TP53 0 genome.wustl.edu 37 17 7577535 7577535 + Missense_Mutation SNP C C A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 17 7577535 7577535 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.746 p.R249M 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 270 0 0.00 99 121 55.00 TP53 0 genome.wustl.edu 37 17 7577536 7577536 + Missense_Mutation SNP T T A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 17 7577536 7577536 T A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.745 p.R249W 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 269 0 0.00 100 118 53.39 TPRKB 0 genome.wustl.edu 37 2 73957880 73957881 + RNA INS - - A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 2 73957880 73957881 - A INS TPRKB ENST00000485758 human ensembl 74_37 -1 putative rna NULL NULL 0.000:0.004 - - - no_errors TPRKB HGNC ENSG00000144034 tier1 8 0 0.00 13 3 18.75 TPSD1 0 genome.wustl.edu 37 16 1306353 1306353 + Silent SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 16 1306353 1306353 C T SNP TPSD1 ENST00000211076 human ensembl 74_37 +1 known silent c.72 p.Y24 0.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors TPSD1 HGNC ENSG00000095917 tier1 - - 61 0 0.00 31 24 43.64 TRIM2 0 genome.wustl.edu 37 4 154191497 154191497 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 4 154191497 154191497 C T SNP TRIM2 ENST00000338700 human ensembl 74_37 +1 known missense c.41 p.A14V 1.000 NULL pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC ENSG00000109654 tier1 - - 51 0 0.00 62 4 6.06 TRPM3 0 genome.wustl.edu 37 9 73151532 73151532 + Missense_Mutation SNP G G C TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 9 73151532 73151532 G C SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.4542 p.D1514E 0.374 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 tier1 - - 9 0 0.00 8 10 55.56 TSSC2 0 genome.wustl.edu 37 11 3427829 3427829 + RNA SNP C C G TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 11 3427829 3427829 C G SNP TSSC2 ENST00000529482 human ensembl 74_37 +1 known rna NULL NULL 0.985 - - - no_errors TSSC2 HGNC ENSG00000223756 tier1 - - 239 0 0.00 185 12 6.09 TSSK1B 0 genome.wustl.edu 37 5 112769894 112769894 + Missense_Mutation SNP G G A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 5 112769894 112769894 G A SNP TSSK1B ENST00000390666 human ensembl 74_37 -1 known missense c.643 p.P215S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK1B HGNC ENSG00000212122 34 0 0.00 34 2 5.56 YEATS2 0 genome.wustl.edu 37 3 183439772 183439772 + Missense_Mutation SNP A A G TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 3 183439772 183439772 A G SNP YEATS2 ENST00000305135 human ensembl 74_37 +1 known missense c.385 p.R129G 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 tier1 - - 38 0 0.00 48 43 47.25 ZC3H8 0 genome.wustl.edu 37 2 113007845 113007845 + Missense_Mutation SNP C C A TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 2 113007845 113007845 C A SNP ZC3H8 ENST00000272570 human ensembl 74_37 -1 known missense c.79 p.D27Y 0.986 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H8 HGNC ENSG00000144161 tier1 - - 57 0 0.00 84 10 10.64 ZMAT1 0 genome.wustl.edu 37 X 101138438 101138439 + RNA INS - - T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 X 101138438 101138439 - T INS ZMAT1 ENST00000494068 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors ZMAT1 HGNC ENSG00000166432 tier1 16 0 0.00 23 3 11.54 ZNF107 0 genome.wustl.edu 37 7 64168085 64168085 + Missense_Mutation SNP A A T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 7 64168085 64168085 A T SNP ZNF107 ENST00000344930 human ensembl 74_37 +1 known missense c.1403 p.Y468F 0.082 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 tier1 - - 22 0 0.00 20 20 50.00 ZNF300P1 0 genome.wustl.edu 37 5 150310917 150310917 + RNA DEL T T - TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 5 150310917 150310917 T - DEL ZNF300P1 ENST00000520773 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF300P1 HGNC ENSG00000197083 tier1 48 0 0.00 62 16 20.51 ZNF524 0 genome.wustl.edu 37 19 56114128 56114128 + Missense_Mutation SNP C C T TCGA-L7-A56G-01A-21D-A27G-09 TCGA-L7-A56G-10A-01D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d6cae831-09f5-451f-9044-55ad10409a3e f603a4bf-c555-4f44-b114-3710db0263e4 19 56114128 56114128 C T SNP ZNF524 ENST00000301073 human ensembl 74_37 +1 known missense c.650 p.A217V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF524 HGNC ENSG00000171443 tier1 - - 50 0 0.00 53 26 32.91