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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val CA4 0 genome.wustl.edu 37 17 58235772 58235772 + Missense_Mutation SNP G G A TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 17 58235772 58235772 G A SNP CA4 ENST00000300900 human ensembl 74_37 +1 known missense c.709 p.V237M 0.977 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA4 HGNC ENSG00000167434 tier1 - - 24 0 0.00 46 10 17.86 76 0 0.00 123 30 19.48 TRHDE 0 genome.wustl.edu 37 12 73050729 73050729 + Missense_Mutation SNP A A G TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 12 73050729 73050729 A G SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.2872 p.N958D 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 tier1 - - 158 0 0.00 91 15 14.15 47 0 0.00 46 7 13.21 DPY19L3 0 genome.wustl.edu 37 19 32899229 32899229 + Missense_Mutation SNP G G C TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 19 32899229 32899229 G C SNP DPY19L3 ENST00000342179 human ensembl 74_37 +1 known missense c.70 p.E24Q 1.000 NULL pfam_Dpy-19 - no_errors DPY19L3 HGNC ENSG00000178904 tier1 - - 115 0 0.00 132 38 22.22 60 1 1.64 98 40 28.99 LRRIQ1 0 genome.wustl.edu 37 12 85546891 85546891 + Silent SNP G G A TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 12 85546891 85546891 G A SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known silent c.4509 p.L1503 0.018 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 - - 153 0 0.00 57 1029 94.66 64 0 0.00 52 471 90.06 MPZL1 0 genome.wustl.edu 37 1 167757562 167757562 + R SNP G G A TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 1 167757562 167757562 G A SNP MPZL1 ENST00000403379 human ensembl 74_37 +1 putative rna NULL NULL 0.359 - - - no_errors MPZL1 HGNC ENSG00000197965 tier1 - - 53 0 0.00 53 81 60.00 63 0 0.00 59 97 62.18 EPHA1 0 genome.wustl.edu 37 7 143095499 143095499 + Missense_Mutation SNP G G A TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 7 143095499 143095499 G A SNP EPHA1 ENST00000275815 human ensembl 74_37 -1 known missense c.1379 p.P460L 0.686 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA1 HGNC ENSG00000146904 tier1 rs202178565 - 57 0 0.00 25 11 30.56 50 0 0.00 32 20 38.46 APBA1 0 genome.wustl.edu 37 9 72071280 72071280 + Silent SNP C C T TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 9 72071280 72071280 C T SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known silent c.1671 p.L557 0.998 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 tier1 - - 77 0 0.00 34 21 38.18 55 0 0.00 36 22 37.93 SLC16A10 0 genome.wustl.edu 37 6 111498746 111498746 + Missense_Mutation SNP A A C TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 6 111498746 111498746 A C SNP SLC16A10 ENST00000368851 human ensembl 74_37 +1 known missense c.820 p.K274Q 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A10 HGNC ENSG00000112394 tier1 - - 20 0 0.00 14 8 36.36 54 0 0.00 34 46 56.79 ERBB3 0 genome.wustl.edu 37 12 56486837 56486837 + Silent SNP C C T TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 12 56486837 56486837 C T SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known silent c.1251 p.T417 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 tier1 - - 66 0 0.00 26 21 43.75 82 0 0.00 42 26 38.24 COL21A1 0 genome.wustl.edu 37 6 55956320 55956320 + R SNP T T C TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 6 55956320 55956320 T C SNP COL21A1 ENST00000467045 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors COL21A1 HGNC ENSG00000124749 tier1 - - 35 0 0.00 20 13 39.39 62 0 0.00 58 28 32.56 STEAP2 0 genome.wustl.edu 37 7 89854616 89854616 + Missense_Mutation SNP G G T TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 7 89854616 89854616 G T SNP STEAP2 ENST00000287908 human ensembl 74_37 +1 known missense c.220 p.V74L 1.000 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP2 HGNC ENSG00000157214 tier1 - - 53 0 0.00 25 21 45.65 74 0 0.00 40 19 32.20 SALL2 0 genome.wustl.edu 37 14 21992685 21992685 + Missense_Mutation SNP G G A TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 14 21992685 21992685 G A SNP SALL2 ENST00000327430 human ensembl 74_37 -1 known missense c.1177 p.R393C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL2 HGNC ENSG00000165821 tier1 - - 22 0 0.00 17 12 41.38 86 0 0.00 43 30 41.10 MEI1 0 genome.wustl.edu 37 22 42166717 42166717 + Silent SNP C C T TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 22 42166717 42166717 C T SNP MEI1 ENST00000401548 human ensembl 74_37 +1 known silent c.2296 p.L766 0.972 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MEI1 HGNC ENSG00000167077 tier1 - - 14 0 0.00 4 6 60.00 84 0 0.00 12 42 76.36 MECR 0 genome.wustl.edu 37 1 29542523 29542523 + Missense_Mutation SNP C C T TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 1 29542523 29542523 C T SNP MECR ENST00000263702 human ensembl 74_37 -1 known missense c.400 p.G134S 1.000 superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors MECR HGNC ENSG00000116353 tier1 - - 45 0 0.00 18 13 41.94 91 0 0.00 57 40 41.24 LILRA1 0 genome.wustl.edu 37 19 55106778 55106778 + Missense_Mutation SNP G G T TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 19 55106778 55106778 G T SNP LILRA1 ENST00000251372 human ensembl 74_37 +1 known missense c.572 p.R191L 0.000 smart_Ig_sub,pirsf_A1B_glyco/leuk_Ig-like_rcpt smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA1 HGNC ENSG00000104974 tier1 - - 82 0 0.00 19 17 45.95 25 0 0.00 30 10 25.00 LNPEP 0 genome.wustl.edu 37 5 96358015 96358015 + Missense_Mutation SNP T T G TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 5 96358015 96358015 T G SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known missense c.2388 p.F796L 0.121 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 tier1 - - 52 0 0.00 27 11 28.95 37 0 0.00 39 15 27.78 RUNX3 0 genome.wustl.edu 37 1 25291022 25291022 + Nonsense_Mutation SNP G G T TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 1 25291022 25291022 G T SNP RUNX3 ENST00000338888 human ensembl 74_37 -1 known nonsense c.41 p.S14* 0.965 pirsf_TF_Runt-rel_RUNX pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_D-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX3 HGNC ENSG00000020633 tier1 - - 80 0 0.00 71 31 30.39 54 0 0.00 33 16 32.65 TUBE1 0 genome.wustl.edu 37 6 112406880 112406880 + R SNP C C T TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 6 112406880 112406880 C T SNP TUBE1 ENST00000441191 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TUBE1 HGNC ENSG00000074935 tier1 - - 76 0 0.00 36 13 26.53 68 0 0.00 49 18 26.87 THRB 0 genome.wustl.edu 37 3 24169081 24169081 + Silent SNP G G A TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 3 24169081 24169081 G A SNP THRB ENST00000356447 human ensembl 74_37 -1 known silent c.1053 p.D351 0.894 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core 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_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRB HGNC ENSG00000151090 tier1 rs115445992 GMAF=0.0005 100 0 0.00 61 45 42.45 119 0 0.00 66 53 44.54 ARHGEF11 0 genome.wustl.edu 37 1 156917189 156917189 + Missense_Mutation SNP T T C TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 1 156917189 156917189 T C SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known missense c.2395 p.I799V 0.675 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,pfam_RGS_dom,superfamily_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_Regulat_G_prot_signal_superfam,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_DH-domain - no_errors ARHGEF11 HGNC ENSG00000132694 tier1 - - 32 0 0.00 24 15 38.46 66 0 0.00 29 16 35.56 APC 0 genome.wustl.edu 37 5 112116600 112116600 + Missense_Mutation SNP G G T TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 5 112116600 112116600 G T SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.645 p.Q215H 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 - - 121 0 0.00 103 18 14.88 83 1 1.19 123 14 10.14 MYADML 0 genome.wustl.edu 37 2 33953017 33953017 + R SNP G G A TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 2 33953017 33953017 G A SNP MYADML ENST00000474610 human ensembl 74_37 -1 known rna NULL NULL 0.815 - - - no_errors MYADML HGNC ENSG00000239649 tier1 - - 28 0 0.00 21 9 30.00 24 0 0.00 17 11 39.29 IFT80 0 genome.wustl.edu 37 3 160083847 160083847 + Missense_Mutation SNP T T A TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 3 160083847 160083847 T A SNP IFT80 ENST00000483754 human ensembl 74_37 -1 known missense c.1046 p.N349I 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_B-box,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RP11-432B6.3 Clone_based_vega_gene ENSG00000248710 tier1 - - 88 0 0.00 44 14 24.14 60 0 0.00 51 13 20.31 IRF2BP2 0 genome.wustl.edu 37 1 234743418 234743418 + Missense_Mutation SNP T T C TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 1 234743418 234743418 T C SNP IRF2BP2 ENST00000366609 human ensembl 74_37 -1 novel missense c.1229 p.N410S 1.000 pfam_Interferon_reg_fac2-bd1_2_Znf pfam_Interferon_reg_fac2-bd1_2_Znf - no_errors IRF2BP2 HGNC ENSG00000168264 tier1 - - 43 0 0.00 13 19 59.38 61 0 0.00 12 18 60.00 MUC16 0 genome.wustl.edu 37 19 9071242 9071242 + Nonsense_Mutation SNP T T A TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 19 9071242 9071242 T A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known nonsense c.16204 p.R5402* 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 77 0 0.00 37 32 46.38 78 0 0.00 32 45 58.44 MRPL44 0 genome.wustl.edu 37 2 224824624 224824624 + Missense_Mutation SNP C C T TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 2 224824624 224824624 C T SNP MRPL44 ENST00000258383 human ensembl 74_37 +1 known missense c.553 p.P185S 1.000 superfamily_RNase_III_dom superfamily_RNase_III_dom,pfscan_dsR-bd_dom - no_errors MRPL44 HGNC ENSG00000135900 tier1 - - 50 0 0.00 17 17 50.00 101 0 0.00 65 22 25.29 OR2T8 0 genome.wustl.edu 37 1 248085156 248085156 + Missense_Mutation SNP C C A TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 1 248085156 248085156 C A SNP OR2T8 ENST00000319968 human ensembl 74_37 +1 known missense c.837 p.F279L 0.022 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T8 HGNC ENSG00000177462 tier1 - - 80 0 0.00 41 7 14.58 42 0 0.00 23 4 14.81 TACR1 0 genome.wustl.edu 37 2 75425694 75425698 + Frame_Shift_Del DEL TGGAG TGGAG - TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 TGGAG TGGAG TGGAG - TGGAG TGGAG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 2 75425694 75425698 TGGAG - DEL TACR1 ENST00000305249 human ensembl 74_37 -1 known frame_shift_del c.367_363 p.S122fs 1.000:1.000:1.000:1.000:1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_NK1_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NK3_rcpt - no_errors TACR1 HGNC ENSG00000115353 tier1 94 0 0.00 57 12 17.39 94 0 0.00 57 12 17.39 ISCA1 0 genome.wustl.edu 37 9 88886926 88886927 + Frame_Shift_Ins INS - - GA TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 - - - GA - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 9 88886926 88886927 - GA INS ISCA1 ENST00000452279 human ensembl 74_37 -1 known frame_shift_ins c.378_377 p.Q126fs 1.000:1.000 pfam_FeS_biogenesis,superfamily_FeS_biogenesis,tigrfam_FeS_cluster_insertion pfam_FeS_biogenesis,superfamily_FeS_biogenesis,tigrfam_FeS_cluster_insertion - no_errors ISCA1 HGNC ENSG00000135070 tier1 119 0 0.00 72 8 10.00 28 0 0.00 32 5 13.51 ATRX 0 genome.wustl.edu 37 X 76937678 76937678 + Nonsense_Mutation SNP C C A TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 X 76937678 76937678 C A SNP ATRX ENST00000373344 human ensembl 74_37 -1 known nonsense c.3070 p.E1024* 0.416 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 tier1 - - 27 0 0.00 0 17 100.00 43 0 0.00 5 33 86.84 C22orf42 0 genome.wustl.edu 37 22 32545908 32545908 + R SNP C C T TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 22 32545908 32545908 C T SNP C22orf42 ENST00000490640 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C22orf42 HGNC ENSG00000205856 tier1 - - 43 0 0.00 12 19 61.29 77 0 0.00 7 32 82.05 ENSG00000265865 0 genome.wustl.edu 37 7 62528467 62528467 + R SNP C C T TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 7 62528467 62528467 C T SNP ENSG00000265865 ENST00000581408 human ensembl 74_37 -1 novel rna NULL NULL 0.006 - - - no_errors AC069285.1 Clone_based_ensembl_gene ENSG00000265865 tier1 - - 29 0 0.00 8 3 27.27 23 0 0.00 5 5 50.00 KIF26A 0 genome.wustl.edu 37 14 104646007 104646007 + Silent SNP C C A TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 14 104646007 104646007 C A SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known silent c.5529 p.A1843 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 tier1 - - 39 0 0.00 24 20 45.45 5 0 0.00 4 5 55.56 KSR2 0 genome.wustl.edu 37 12 118199117 118199117 + Missense_Mutation SNP C C T TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 12 118199117 118199117 C T SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known missense c.685 p.V229M 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 tier1 - - 71 0 0.00 39 16 29.09 13 0 0.00 8 6 42.86 EDAR 0 genome.wustl.edu 37 2 109545698 109545698 + Silent SNP T T A TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 2 109545698 109545698 T A SNP EDAR ENST00000376651 human ensembl 74_37 -1 known silent c.312 p.P104 0.011 NULL pfam_Death_domain,superfamily_DEATH-like_dom - no_errors EDAR HGNC ENSG00000135960 tier1 - - 76 0 0.00 54 5 8.47 80 0 0.00 84 5 5.62 CELP 0 genome.wustl.edu 37 9 135962555 135962556 + R INS - - CTGCC TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 9 135962555 135962556 - CTGCC INS CELP ENST00000411440 human ensembl 74_37 +1 known rna NULL NULL 0.038:0.013 - - - no_errors CELP HGNC ENSG00000170827 tier1 10 0 0.00 7 1 12.50 10 0 0.00 7 1 12.50 CABLES1 0 genome.wustl.edu 37 18 20716015 20716023 + In_Frame_Del DEL GGCGCCGGC GGCGCCGGC - TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 GGCGCCGGC GGCGCCGGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 18 20716015 20716023 GGCGCCGGC - DEL CABLES1 ENST00000256925 human ensembl 74_37 +1 known in_frame_del c.289_297 p.GGA99in_frame_del 0.983:0.981:0.990:0.998:0.999:0.997:0.999:0.999:0.997 pirsf_Cdk5/c-Abl_linker_Cables pfam_Cyclin_N,superfamily_Cyclin-like,pirsf_Cdk5/c-Abl_linker_Cables - no_errors CABLES1 HGNC ENSG00000134508 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 CTBP2 0 genome.wustl.edu 37 10 126715159 126715160 + In_Frame_Ins INS - - GCCGCAGGCTGGGGCTGCAGG TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 10 126715159 126715160 - GCCGCAGGCTGGGGCTGCAGG INS CTBP2 ENST00000309035 human ensembl 74_37 -1 known in_frame_ins c.1170_1169 p.391in_frame_insLQPQPAA 0.257:0.112 NULL pfam_D-isomer_2_OHA_DH_D-bd,pfam_D-isomer_2_OHA_DH_cat_dom - no_errors CTBP2 HGNC ENSG00000175029 tier1 2 0 0.00 2 0 0.00 2 0 0.00 2 0 0.00 ENSG00000215941 0 genome.wustl.edu 37 3 38948849 38948856 + R DEL ACACACAC ACACACAC - TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 ACACACAC ACACACAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 3 38948849 38948856 ACACACAC - DEL ENSG00000215941 ENST00000401122 human ensembl 74_37 +1 novel rna NULL NULL 0.000:0.000:0.000:0.000:0.000:0.000:0.000:0.000 - - - no_errors AC116038.1 Clone_based_ensembl_gene ENSG00000215941 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 GOLGA6L4 0 genome.wustl.edu 37 15 82932257 82932288 + R DEL ACACAAATAAATTTAAACTATAAATTAGAAAC ACACAAATAAATTTAAACTATAAATTAGAAAC - TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 ACACAAATAAATTTAAACTATAAATTAGAAAC ACACAAATAAATTTAAACTATAAATTAGAAAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 15 82932257 82932288 ACACAAATAAATTTAAACTATAAATTAGAAAC - DEL GOLGA6L4 ENST00000560844 human ensembl 74_37 -1 known rna NULL NULL 0.140:0.148:0.154:0.160:0.165:0.169:0.172:0.175:0.177:0.178:0.179:0.179:0.180:0.179:0.135:0.131:0.126:0.121:0.112:0.097:0.077:0.050:0.041:0.040:0.045:0.047:0.048:0.046:0.049:0.052:0.050:0.046 - - - no_errors RP13-996F3.5 Clone_based_vega_gene ENSG00000215749 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 KIR2DL1 0 genome.wustl.edu 37 19 55281331 55281331 + Missense_Mutation SNP G G A TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 19 55281331 55281331 G A SNP KIR2DL1 ENST00000336077 human ensembl 74_37 +1 known missense c.29 p.C10Y 0.960 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL1 HGNC ENSG00000125498 tier1 - - 54 0 0.00 7 28 80.00 0 0 0.00 0 0 0.00 NBPF9 0 genome.wustl.edu 37 1 144815234 144815234 + R SNP C C G TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 1 144815234 144815234 C G SNP NBPF9 ENST00000483630 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NBPF9 HGNC ENSG00000168614 tier1 - - 8 0 0.00 4 47 92.16 0 0 0.00 0 1 100.00 NUDT16 0 genome.wustl.edu 37 3 131101009 131101009 + Silent SNP C C A TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 3 131101009 131101009 C A SNP NUDT16 ENST00000521288 human ensembl 74_37 +1 known silent c.258 p.A86 0.752 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors NUDT16 HGNC ENSG00000198585 tier1 - - 53 0 0.00 67 17 20.00 3 0 0.00 6 1 14.29 ASAP3 0 genome.wustl.edu 37 1 23763476 23763476 + Silent SNP G G A TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 1 23763476 23763476 G A SNP ASAP3 ENST00000336689 human ensembl 74_37 -1 known silent c.1404 p.H468 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP3 HGNC ENSG00000088280 tier1 - - 15 0 0.00 3 7 70.00 3 0 0.00 0 6 100.00 VPS13C 0 genome.wustl.edu 37 15 62234079 62234079 + Missense_Mutation SNP G G C TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 15 62234079 62234079 G C SNP VPS13C ENST00000261517 human ensembl 74_37 -1 known missense c.5336 p.A1779G 1.000 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 tier1 - - 79 0 0.00 42 5 10.20 80 0 0.00 102 2 1.92 SIGLEC7 0 genome.wustl.edu 37 19 51650058 51650058 + Missense_Mutation SNP G G A TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 19 51650058 51650058 G A SNP SIGLEC7 ENST00000317643 human ensembl 74_37 +1 known missense c.1075 p.A359T 0.005 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC7 HGNC ENSG00000168995 tier1 - - 37 0 0.00 41 9 18.00 32 0 0.00 26 2 7.14 CCDC80 0 genome.wustl.edu 37 3 112357638 112357638 + Missense_Mutation SNP G G T TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 3 112357638 112357638 G T SNP CCDC80 ENST00000206423 human ensembl 74_37 -1 known missense c.1115 p.A372D 0.796 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 tier1 - - 26 0 0.00 28 4 12.50 38 0 0.00 37 2 5.13 ISCA1 0 genome.wustl.edu 37 9 88886929 88886929 + Frame_Shift_Del DEL A A - TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 9 88886929 88886929 A - DEL ISCA1 ENST00000452279 human ensembl 74_37 -1 known frame_shift_del c.375 p.Q126fs 0.997 pfam_FeS_biogenesis,superfamily_FeS_biogenesis,tigrfam_FeS_cluster_insertion pfam_FeS_biogenesis,superfamily_FeS_biogenesis,tigrfam_FeS_cluster_insertion - no_errors ISCA1 HGNC ENSG00000135070 tier1 122 0 0.00 65 13 16.67 28 0 0.00 35 2 5.41 ISCA1 0 genome.wustl.edu 37 9 88886934 88886943 + Frame_Shift_Del DEL CTTCTTCATC CTTCTTCATC - TCGA-DX-AB3A-01A-11D-A417-09 TCGA-DX-AB3A-10A-01D-A41A-09 CTTCTTCATC CTTCTTCATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8e9ab794-7d43-4210-8c9b-a4175ccb824e 8152de30-f110-467a-934b-9f92131bee55 9 88886934 88886943 CTTCTTCATC - DEL ISCA1 ENST00000452279 human ensembl 74_37 -1 known frame_shift_del c.370_361 p.D121fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_FeS_biogenesis,superfamily_FeS_biogenesis,tigrfam_FeS_cluster_insertion pfam_FeS_biogenesis,superfamily_FeS_biogenesis,tigrfam_FeS_cluster_insertion - no_errors ISCA1 HGNC ENSG00000135070 tier1 28 0 0.00 35 2 5.41 28 0 0.00 35 2 5.41