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 GAD2 0 genome.wustl.edu 37 10 26505740 26505740 + Missense_Mutation SNP T T C TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 10 26505740 26505740 T C SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known missense c.2 p.M1T 1.000 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 tier1 - - 33 0 0.00 27 17 38.64 43 0 0.00 19 20 51.28 SPEF2 0 genome.wustl.edu 37 5 35789750 35789750 + Missense_Mutation SNP G G T TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 5 35789750 35789750 G T SNP SPEF2 ENST00000303129 human ensembl 74_37 +1 known missense c.472 p.V158L 1.000 NULL pfam_HATC_dom_C,superfamily_RNaseH-like_dom - no_errors SPEF2 HGNC ENSG00000152582 tier1 - - 47 0 0.00 41 34 45.33 128 0 0.00 66 65 49.62 RBAK 0 genome.wustl.edu 37 7 5104323 5104323 + Silent SNP A A G TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 7 5104323 5104323 A G SNP RBAK ENST00000353796 human ensembl 74_37 +1 known silent c.1236 p.R412 0.009 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors RBAK HGNC ENSG00000146587 tier1 - - 37 0 0.00 24 16 40.00 115 0 0.00 39 21 35.00 KHK 0 genome.wustl.edu 37 2 27322146 27322146 + Missense_Mutation SNP G G C TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 2 27322146 27322146 G C SNP KHK ENST00000260598 human ensembl 74_37 +1 known missense c.647 p.R216T 1.000 pfam_PfkB_dom pfam_PfkB_dom - no_errors KHK HGNC ENSG00000138030 tier1 - - 104 0 0.00 111 24 17.78 58 0 0.00 38 22 36.67 GART 0 genome.wustl.edu 37 21 34883664 34883664 + Missense_Mutation SNP C C T TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 21 34883664 34883664 C T SNP GART ENST00000381815 human ensembl 74_37 -1 known missense c.2209 p.A737T 1.000 pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,tigrfam_PurM_cligase pfam_PRibGlycinamid_synth_ATP-grasp,pfam_Formyl_transf_N,pfam_PRibGlycinamide_synth_N,pfam_AIR_synth_C_dom,pfam_PRibGlycinamide_synth_C-dom,pfam_AIR_synth_N_dom,pfam_ATP-grasp_carboxylate-amine,pfam_CbamoylP_synth_lsu-like_ATP-bd,superfamily_Formyl_transf_N,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,pfscan_ATP-grasp,tigrfam_PRibGlycinamide_synth,tigrfam_PurM_cligase,tigrfam_PurN_trans - no_errors GART HGNC ENSG00000159131 tier1 - - 107 0 0.00 66 81 54.73 112 0 0.00 62 57 47.90 C4orf3 0 genome.wustl.edu 37 4 120221759 120221759 + Missense_Mutation SNP C C G TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 4 120221759 120221759 C G SNP C4orf3 ENST00000399075 human ensembl 74_37 -1 known missense c.331 p.A111P 0.000 NULL NULL - no_errors C4orf3 HGNC ENSG00000164096 tier1 - - 39 0 0.00 43 30 41.10 73 0 0.00 63 34 35.05 PIEZO2 0 genome.wustl.edu 37 18 10773615 10773615 + Silent SNP C C T TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 18 10773615 10773615 C T SNP PIEZO2 ENST00000582913 human ensembl 74_37 -1 known silent c.2547 p.P849 0.681 NULL NULL - no_errors PIEZO2 HGNC ENSG00000154864 tier1 - - 36 0 0.00 17 15 46.88 77 0 0.00 61 43 41.35 CNTP3 0 genome.wustl.edu 37 9 39178156 39178156 + Nonsense_Mutation SNP G G C TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 9 39178156 39178156 G C SNP CNTP3 ENST00000297668 human ensembl 74_37 -1 known nonsense c.740 p.S247* 0.967 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTP3 HGNC ENSG00000106714 tier1 - - 151 0 0.00 134 117 46.61 111 1 0.89 70 41 36.94 VPS13B 0 genome.wustl.edu 37 8 100880651 100880651 + Missense_Mutation SNP C C G TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 8 100880651 100880651 C G SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.11425 p.P3809A 1.000 pfam_Autophagy-rel_C pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 tier1 - - 76 0 0.00 76 56 42.42 77 0 0.00 45 40 47.06 MTHFD1L 0 genome.wustl.edu 37 6 151206811 151206811 + Missense_Mutation SNP C C G TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 6 151206811 151206811 C G SNP MTHFD1L ENST00000367321 human ensembl 74_37 +1 known missense c.584 p.A195G 1.000 pfam_THF_DH/CycHdrlase_D-bd_dom pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_D-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1L HGNC ENSG00000120254 tier1 - - 81 0 0.00 72 64 46.72 143 0 0.00 69 79 53.02 C16orf96 0 genome.wustl.edu 37 16 4625892 4625892 + Nonsense_Mutation SNP G G T TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 16 4625892 4625892 G T SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known nonsense c.1411 p.E471* 0.004 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 61 0 0.00 43 53 55.21 58 0 0.00 21 51 70.83 SLC7A14 0 genome.wustl.edu 37 3 170216674 170216674 + Splice_Site SNP C C T TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 3 170216674 170216674 C T SNP SLC7A14 ENST00000231706 human ensembl 74_37 -1 known splice_site c.542-1 e3-1 1.000 - - - no_errors SLC7A14 HGNC ENSG00000013293 tier1 - - 46 0 0.00 25 27 51.92 105 1 0.94 47 42 47.19 ERBB4 0 genome.wustl.edu 37 2 212295769 212295769 + Missense_Mutation SNP A A T TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 2 212295769 212295769 A T SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.2544 p.N848K 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_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 ERBB4 HGNC ENSG00000178568 tier1 - - 70 0 0.00 60 57 48.72 114 0 0.00 51 57 52.78 MDM2 0 genome.wustl.edu 37 12 69222659 69222659 + Missense_Mutation SNP T T C TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 12 69222659 69222659 T C SNP MDM2 ENST00000462284 human ensembl 74_37 +1 known missense c.632 p.I211T 0.919 superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4 pfam_SWIB_MDM2_domain,pfam_Znf_RanBP2,superfamily_SWIB_MDM2_domain,pirsf_p53_neg-reg_MDM_2/4,pfscan_Znf_RanBP2,pfscan_Znf_RING - no_errors MDM2 HGNC ENSG00000135679 tier1 - - 32 0 0.00 30 26 46.43 116 0 0.00 68 51 42.86 ZSCAN21 0 genome.wustl.edu 37 7 99654810 99654810 + Nonsense_Mutation SNP G G T TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 7 99654810 99654810 G T SNP ZSCAN21 ENST00000292450 human ensembl 74_37 +1 known nonsense c.181 p.E61* 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN21 HGNC ENSG00000166529 tier1 - - 46 0 0.00 50 58 53.70 53 0 0.00 22 19 46.34 OR51G1 0 genome.wustl.edu 37 11 4945061 4945061 + Missense_Mutation SNP T T C TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 11 4945061 4945061 T C SNP OR51G1 ENST00000321961 human ensembl 74_37 -1 known missense c.509 p.Y170C 0.963 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51G1 HGNC ENSG00000176879 tier1 - - 60 0 0.00 37 35 48.61 73 0 0.00 49 31 38.75 MIR663A 0 genome.wustl.edu 37 20 26231957 26231957 + R SNP G G A TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 20 26231957 26231957 G A SNP MIR663A ENST00000594130 human ensembl 74_37 -1 known rna NULL NULL 0.046 - - - no_errors MIR663A HGNC ENSG00000227195 tier1 - - 15 0 0.00 18 13 41.94 39 0 0.00 24 25 51.02 FER 0 genome.wustl.edu 37 5 108207846 108207846 + Missense_Mutation SNP G G C TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 5 108207846 108207846 G C SNP FER ENST00000281092 human ensembl 74_37 +1 known missense c.856 p.E286Q 1.000 pirsf_Tyr_kinase_non-rcpt_Fes_subgr pirsf_Tyr_kinase_non-rcpt_Fes_subgr,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_FCH_dom,superfamily_Kinase-like_dom,smart_FCH_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,pfscan_FCH_dom,pfscan_SH2,pfscan_Prot_kinase_dom - no_errors FER HGNC ENSG00000151422 tier1 - - 33 0 0.00 36 20 34.48 98 0 0.00 54 44 44.44 SH3BP5L 0 genome.wustl.edu 37 1 249109041 249109041 + R SNP A A C TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 1 249109041 249109041 A C SNP SH3BP5L ENST00000475978 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SH3BP5L HGNC ENSG00000175137 tier1 - - 14 0 0.00 13 10 43.48 94 0 0.00 43 47 51.65 METTL2A 0 genome.wustl.edu 37 17 60503814 60503814 + Silent SNP C C T TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 17 60503814 60503814 C T SNP METTL2A ENST00000311506 human ensembl 74_37 +1 known silent c.357 p.N119 0.000 pirsf_MeTrfase pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase - no_errors METTL2A HGNC ENSG00000087995 tier1 - - 126 0 0.00 86 90 51.14 119 0 0.00 55 53 49.07 PTPRS 0 genome.wustl.edu 37 19 5212070 5212070 + Frame_Shift_Del DEL G G - TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 19 5212070 5212070 G - DEL PTPRS ENST00000372412 human ensembl 74_37 -1 known frame_shift_del c.4964 p.T1655fs 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 tier1 53 0 0.00 61 39 39.00 34 0 0.00 19 14 42.42 DOCK2 0 genome.wustl.edu 37 5 169188536 169188536 + Frame_Shift_Del DEL G G - TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 5 169188536 169188536 G - DEL DOCK2 ENST00000256935 human ensembl 74_37 +1 known frame_shift_del c.2461 p.E821fs 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 54 0 0.00 47 47 50.00 80 0 0.00 54 36 40.00 VAMP1 0 genome.wustl.edu 37 12 6571921 6571952 + R DEL CAAGGAGGAGCCCAGAGGAGAGTGGAGACCTT CAAGGAGGAGCCCAGAGGAGAGTGGAGACCTT - TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 CAAGGAGGAGCCCAGAGGAGAGTGGAGACCTT CAAGGAGGAGCCCAGAGGAGAGTGGAGACCTT CAAGGAGGAGCCCAGAGGAGAGTGGAGACCTT - CAAGGAGGAGCCCAGAGGAGAGTGGAGACCTT CAAGGAGGAGCCCAGAGGAGAGTGGAGACCTT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 12 6571921 6571952 CAAGGAGGAGCCCAGAGGAGAGTGGAGACCTT - DEL VAMP1 ENST00000544432 human ensembl 74_37 -1 known rna NULL NULL 0.927:0.937:0.945:0.951:0.966:0.970:0.986:0.986:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.998:0.996:0.987:0.973:0.994:0.998:0.999:1.000:0.999:1.000:1.000:0.994:0.991:0.959:0.932:0.808 - - - no_errors VAMP1 HGNC ENSG00000139190 tier1 59 0 0.00 36 4 10.00 59 0 0.00 36 4 10.00 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C A TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 17 7578406 7578406 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175L 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 43 0 0.00 6 42 87.50 76 0 0.00 3 27 90.00 ZNF628 0 genome.wustl.edu 37 19 55993959 55993959 + Missense_Mutation SNP T T C TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 19 55993959 55993959 T C SNP ZNF628 ENST00000598519 human ensembl 74_37 +1 known missense c.1399 p.S467P 0.954 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 tier1 - - 54 0 0.00 4 21 84.00 20 0 0.00 0 13 100.00 OLFM3 0 genome.wustl.edu 37 1 102462400 102462400 + R SNP C C T TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 1 102462400 102462400 C T SNP OLFM3 ENST00000462354 human ensembl 74_37 -1 known rna NULL NULL 0.989 - - - no_errors OLFM3 HGNC ENSG00000118733 tier1 - - 165 0 0.00 186 25 11.85 102 0 0.00 88 7 7.37 ANKRD62 0 genome.wustl.edu 37 18 12107409 12107409 + Missense_Mutation SNP A A G TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 18 12107409 12107409 A G SNP ANKRD62 ENST00000314074 human ensembl 74_37 +1 known missense c.965 p.K322R 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD62 HGNC ENSG00000181626 tier1 - - 68 0 0.00 93 9 8.82 104 0 0.00 89 8 8.25 MUC4 0 genome.wustl.edu 37 3 195513615 195513615 + Silent SNP A A T TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 3 195513615 195513615 A T SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.4836 p.G1612 0.000 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 586 0 0.00 707 150 17.48 6 0 0.00 0 0 0.00 MED15P1 0 genome.wustl.edu 37 14 19499970 19499970 + R SNP G G T TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 14 19499970 19499970 G T SNP MED15P1 ENST00000552968 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MED15P1 HGNC ENSG00000257853 tier1 - - 27 0 0.00 34 6 15.00 3 0 0.00 0 1 100.00 MSH3 0 genome.wustl.edu 37 5 79950700 79950717 + In_Frame_Del DEL GCAGCGGCTGCAGCGGCC GCAGCGGCTGCAGCGGCC - TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 GCAGCGGCTGCAGCGGCC GCAGCGGCTGCAGCGGCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 5 79950700 79950717 GCAGCGGCTGCAGCGGCC - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known in_frame_del c.154_171 p.AAAAAA55in_frame_del 0.640:0.607:0.574:0.541:0.508:0.474:0.440:0.406:0.372:0.338:0.304:0.271:0.238:0.205:0.172:0.140:0.107:0.075 NULL pfam_D_mismatch_repair_MutS_C,pfam_D_mismatch_repair_MutS_core,pfam_D_mmatch_repair_MutS_con_dom,pfam_D_mismatch_repair_MutS-lik_N,pfam_D_mismatch_repair_MutS_clamp,superfamily_D_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_D_mismatch_repair_MutS_N,superfamily_D_mmatch_repair_MutS_con_dom,smart_D_mismatch_repair_MutS_core,smart_D_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 MSH3 0 genome.wustl.edu 37 5 79950714 79950714 + Frame_Shift_Del DEL G G - TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 5 79950714 79950714 G - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_del c.168 p.A57fs 0.172 NULL pfam_D_mismatch_repair_MutS_C,pfam_D_mismatch_repair_MutS_core,pfam_D_mmatch_repair_MutS_con_dom,pfam_D_mismatch_repair_MutS-lik_N,pfam_D_mismatch_repair_MutS_clamp,superfamily_D_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_D_mismatch_repair_MutS_N,superfamily_D_mmatch_repair_MutS_con_dom,smart_D_mismatch_repair_MutS_core,smart_D_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 tier1 25 0 0.00 30 12 28.57 0 0 0.00 0 0 0.00 MSH3 0 genome.wustl.edu 37 5 79950723 79950723 + Frame_Shift_Del DEL G G - TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 5 79950723 79950723 G - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_del c.177 p.A60fs 0.730 NULL pfam_D_mismatch_repair_MutS_C,pfam_D_mismatch_repair_MutS_core,pfam_D_mmatch_repair_MutS_con_dom,pfam_D_mismatch_repair_MutS-lik_N,pfam_D_mismatch_repair_MutS_clamp,superfamily_D_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_D_mismatch_repair_MutS_N,superfamily_D_mmatch_repair_MutS_con_dom,smart_D_mismatch_repair_MutS_core,smart_D_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 tier1 17 0 0.00 38 11 22.45 0 0 0.00 0 0 0.00 NPIPB11 0 genome.wustl.edu 37 16 29394193 29394193 + Missense_Mutation SNP G G A TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 16 29394193 29394193 G A SNP NPIPB11 ENST00000524087 human ensembl 74_37 -1 putative missense c.2060 p.P687L 0.002 NULL NULL - no_errors NPIPB11 HGNC ENSG00000254206 tier1 - - 27 0 0.00 36 5 12.20 0 0 0.00 0 0 0.00 NRXN1 0 genome.wustl.edu 37 2 50147836 50147843 + R DEL GTGTGTGT GTGTGTGT - TCGA-DX-A48U-01A-11D-A307-09 TCGA-DX-A48U-10A-01D-A307-09 GTGTGTGT GTGTGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq acb75bde-21d7-4529-94e5-8c3d57b82a4d 5e3d2dc3-73c1-4ef0-b649-0be72a5ab634 2 50147836 50147843 GTGTGTGT - DEL NRXN1 ENST00000484192 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001:0.005:0.106:0.113:0.127:0.107:0.109 - - - no_errors NRXN1 HGNC ENSG00000179915 tier1 1 0 0.00 0 0 0.00 1 0 0.00 0 0 0.00