Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All AADACL4 0 genome.wustl.edu 37 1 12704575 12704575 + Missense_Mutation SNP C C T TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 1 12704575 12704575 C T SNP AADACL4 ENST00000376221 human ensembl 69_37n +1 known missense c.10 p.P4S 0.001 pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors AADACL4 HGNC ENSG00000204518 97 0 0.00 24 59 71.08 - - - ADAL 0 genome.wustl.edu 37 15 43644127 43644127 + Missense_Mutation SNP G G C TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 15 43644127 43644127 G C SNP ADAL ENST00000422466 human ensembl 69_37n +1 known missense c.1052 p.R351T 0.991 NULL pfam_A/AMP_deaminase_dom - no_errors ADAL HGNC ENSG00000168803 45 0 0.00 31 14 31.11 - - - ADCY7 0 genome.wustl.edu 37 16 50328657 50328657 + Missense_Mutation SNP G G A TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 16 50328657 50328657 G A SNP ADCY7 ENST00000254235 human ensembl 69_37n +1 known missense c.943 p.A315T 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY7 HGNC ENSG00000121281 33 0 0.00 18 10 35.71 - - - AGAP2 0 genome.wustl.edu 37 12 58128453 58128453 + Missense_Mutation SNP C C T TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 12 58128453 58128453 C T SNP AGAP2 ENST00000547588 human ensembl 69_37n -1 known missense c.1237 p.G413S 1.000 pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP2 HGNC ENSG00000135439 38 0 0.00 23 10 30.30 - - - AKT2 0 genome.wustl.edu 37 19 40741973 40741973 + Nonsense_Mutation SNP C C T TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 19 40741973 40741973 C T SNP AKT2 ENST00000392038 human ensembl 69_37n -1 known nonsense c.999 p.W333* 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom - no_errors AKT2 HGNC ENSG00000105221 51 0 0.00 36 18 33.33 - - - ASAP1 0 genome.wustl.edu 37 8 131226804 131226804 + Missense_Mutation SNP G G C TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 8 131226804 131226804 G C SNP ASAP1 ENST00000357668 human ensembl 69_37n -1 known missense c.403 p.L135V 1.000 NULL pfam_ArfGAP,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_ArfGAP,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,prints_ArfGAP,prints_p67phox,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP - no_errors ASAP1 HGNC ENSG00000153317 78 0 0.00 88 22 20.00 - - - C4orf47 0 genome.wustl.edu 37 4 186370764 186370764 + Missense_Mutation SNP A A G TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 4 186370764 186370764 A G SNP C4orf47 ENST00000378850 human ensembl 69_37n +1 known missense c.896 p.K299R 0.999 NULL NULL - no_errors C4orf47 HGNC ENSG00000205129 74 0 0.00 67 32 32.32 - - - EPHA3 0 genome.wustl.edu 37 3 89521635 89521635 + Missense_Mutation SNP C C G TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 3 89521635 89521635 C G SNP EPHA3 ENST00000336596 human ensembl 69_37n +1 known missense c.2712 p.D904E 1.000 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_2,pfam_SAM_type1,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,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_cat_dom - no_errors EPHA3 HGNC ENSG00000044524 50 0 0.00 39 18 31.58 - - - EXOSC9 0 genome.wustl.edu 37 4 122737590 122737590 + Missense_Mutation SNP C C G TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 4 122737590 122737590 C G SNP EXOSC9 ENST00000379663 human ensembl 69_37n +1 known missense c.1274 p.P425R 0.043 NULL pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC9 HGNC ENSG00000123737 55 0 0.00 34 21 38.18 - - - FAM47B 0 genome.wustl.edu 37 X 34961414 34961414 + Nonsense_Mutation SNP G G T TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 X 34961414 34961414 G T SNP FAM47B ENST00000329357 human ensembl 69_37n +1 known nonsense c.466 p.E156* 0.116 NULL NULL - no_errors FAM47B HGNC ENSG00000189132 53 0 0.00 34 16 32.00 - - - FAM75A6 0 genome.wustl.edu 37 9 43625257 43625257 + Missense_Mutation SNP C C T TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 9 43625257 43625257 C T SNP FAM75A6 ENST00000332857 human ensembl 69_37n -1 known missense c.3430 p.V1144I 0.000 NULL NULL - no_errors FAM75A6 HGNC ENSG00000185775 226 0 0.00 90 66 42.31 - - - FAM75D3 0 genome.wustl.edu 37 9 84562337 84562337 + RNA SNP G G C TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 9 84562337 84562337 G C SNP FAM75D3 ENST00000334208 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors FAM75D3 HGNC ENSG00000186788 22 0 0.00 9 8 47.06 - - - FBN1 0 genome.wustl.edu 37 15 48766788 48766788 + Missense_Mutation SNP T T C TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 15 48766788 48766788 T C SNP FBN1 ENST00000316623 human ensembl 69_37n -1 known missense c.4024 p.T1342A 1.000 pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pirsf_Fibrillin,pfscan_EG-like_dom pfam_EGF-like_Ca-bd,pfam_EGF-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibrillin,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 91 0 0.00 56 34 37.78 - - - FBXL17 0 genome.wustl.edu 37 5 107216824 107216824 + Missense_Mutation SNP A A G TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 5 107216824 107216824 A G SNP FBXL17 ENST00000542267 human ensembl 69_37n -1 known missense c.1879 p.C627R 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL17 HGNC ENSG00000145743 68 0 0.00 29 24 44.44 - - - GFPT2 0 genome.wustl.edu 37 5 179745913 179745913 + Missense_Mutation SNP C C T TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 5 179745913 179745913 C T SNP GFPT2 ENST00000253778 human ensembl 69_37n -1 known missense c.838 p.D280N 1.000 tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 26 0 0.00 8 16 66.67 - - - GLDC 0 genome.wustl.edu 37 9 6605176 6605176 + Missense_Mutation SNP C C G TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 9 6605176 6605176 C G SNP GLDC ENST00000321612 human ensembl 69_37n -1 known missense c.816 p.K272N 1.000 pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_GDC_P_homo - no_errors GLDC HGNC ENSG00000178445 67 0 0.00 20 17 45.95 - - - HLA-J 0 genome.wustl.edu 37 6 29974791 29974791 + RNA SNP G G C TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 6 29974791 29974791 G C SNP HLA-J ENST00000462773 human ensembl 69_37n +1 known rna NULL NULL 0.020 - - - no_errors HLA-J HGNC ENSG00000204622 46 0 0.00 36 9 20.00 - - - INSRR 0 genome.wustl.edu 37 1 156812803 156812803 + Missense_Mutation SNP T T A TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 1 156812803 156812803 T A SNP INSRR ENST00000368195 human ensembl 69_37n -1 known missense c.3119 p.H1040L 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors INSRR HGNC ENSG00000027644 32 0 0.00 27 9 24.32 - - - ITGA1 0 genome.wustl.edu 37 5 52240786 52240786 + Missense_Mutation SNP G G C TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 5 52240786 52240786 G C SNP ITGA1 ENST00000282588 human ensembl 69_37n +1 known missense c.3299 p.S1100T 1.000 NULL 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 ITGA1 HGNC ENSG00000213949 79 0 0.00 35 15 30.00 - - - ITIH5 0 genome.wustl.edu 37 10 7605192 7605192 + Missense_Mutation SNP T T A TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 10 7605192 7605192 T A SNP ITIH5 ENST00000256861 human ensembl 69_37n -1 known missense c.2683 p.I895F 1.000 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 70 0 0.00 53 22 29.33 - - - KCNA6 0 genome.wustl.edu 37 12 4920003 4920003 + Missense_Mutation SNP G G T TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 12 4920003 4920003 G T SNP KCNA6 ENST00000280684 human ensembl 69_37n +1 known missense c.796 p.V266L 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.6,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA6 HGNC ENSG00000151079 20 0 0.00 21 17 44.74 - - - KIAA1107 0 genome.wustl.edu 37 1 92647600 92647600 + Missense_Mutation SNP G G C TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 1 92647600 92647600 G C SNP KIAA1107 ENST00000409154 human ensembl 69_37n +1 known missense c.3211 p.E1071Q 0.998 NULL NULL - no_errors KIAA1107 HGNC ENSG00000069712 69 0 0.00 21 16 43.24 - - - KIFAP3 0 genome.wustl.edu 37 1 170007569 170007569 + Missense_Mutation SNP C C T TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 1 170007569 170007569 C T SNP KIFAP3 ENST00000361580 human ensembl 69_37n -1 known missense c.379 p.D127N 1.000 NULL superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors KIFAP3 HGNC ENSG00000075945 54 0 0.00 36 14 28.00 - - - LCN2 0 genome.wustl.edu 37 9 130913971 130913971 + Silent SNP C C G TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 9 130913971 130913971 C G SNP LCN2 ENST00000372998 human ensembl 69_37n +1 known silent c.336 p.G112 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_N_gelatinase pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_N_gelatinase,prints_PstgldnD_synth,prints_Lipocalin,prints_A1-microglobln - no_errors LCN2 HGNC ENSG00000148346 35 0 0.00 22 7 24.14 - - - MED16 0 genome.wustl.edu 37 19 875294 875295 + Frame_Shift_Del DEL TT TT - TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 TT TT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 19 875294 875295 TT - DEL MED16 ENST00000325464 human ensembl 69_37n -1 known frame_shift_del c.1721_1720 p.K574fs 1.000:1.000 pfam_Mediator_Med16 pfam_Mediator_Med16,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors MED16 HGNC ENSG00000175221 34 0 0.00 8 9 47.37 - - - MPND 0 genome.wustl.edu 37 19 4354359 4354359 + Missense_Mutation SNP C C A TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 19 4354359 4354359 C A SNP MPND ENST00000262966 human ensembl 69_37n +1 known missense c.788 p.A263D 1.000 NULL pfam_JAB1_Mov34_MPN_PAD1 - no_errors MPND HGNC ENSG00000008382 48 0 0.00 34 19 35.85 - - - MUC12 0 genome.wustl.edu 37 7 100637073 100637073 + Missense_Mutation SNP C C T TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 7 100637073 100637073 C T SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.3658 p.R1220C 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 37 0 0.00 36 5 12.20 - - - MXRA5 0 genome.wustl.edu 37 X 3239601 3239601 + Silent SNP T T C TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 X 3239601 3239601 T C SNP MXRA5 ENST00000217939 human ensembl 69_37n -1 known silent c.4125 p.P1375 0.001 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 36 0 0.00 18 4 18.18 - - - NBPF11 0 genome.wustl.edu 37 1 146055349 146055349 + Missense_Mutation SNP G G A TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 1 146055349 146055349 G A SNP NBPF11 ENST00000339388 human ensembl 69_37n -1 known missense c.274 p.L92F 0.060 NULL pfam_NBPF_dom,superfamily_Secretoglobin - no_errors NBPF11 HGNC ENSG00000152042 11 0 0.00 13 6 31.58 - - - NEB 0 genome.wustl.edu 37 2 152580858 152580858 + Nonsense_Mutation SNP C C T TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 2 152580858 152580858 C T SNP NEB ENST00000397345 human ensembl 69_37n -1 known nonsense c.528 p.W176* 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 89 0 0.00 63 25 28.41 - - - PCDHGA7 0 genome.wustl.edu 37 5 140764619 140764619 + Missense_Mutation SNP G G A TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 5 140764619 140764619 G A SNP PCDHGA7 ENST00000518325 human ensembl 69_37n +1 known missense c.2153 p.R718H 0.979 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 34 0 0.00 32 17 34.69 - - - PRX 0 genome.wustl.edu 37 19 40902282 40902282 + Silent SNP G G T TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 19 40902282 40902282 G T SNP PRX ENST00000324001 human ensembl 69_37n -1 known silent c.1977 p.L659 0.024 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 61 0 0.00 31 12 27.91 - - - PSMD2 0 genome.wustl.edu 37 3 184018176 184018176 + Missense_Mutation SNP C C G TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 3 184018176 184018176 C G SNP PSMD2 ENST00000310118 human ensembl 69_37n +1 known missense c.301 p.P101A 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 pfam_APC_proteasome,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 35 0 0.00 31 14 31.11 - - - PTRF 0 genome.wustl.edu 37 17 40557214 40557214 + Nonsense_Mutation SNP T T A TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 17 40557214 40557214 T A SNP PTRF ENST00000357037 human ensembl 69_37n -1 known nonsense c.664 p.K222* 1.000 NULL NULL - no_errors PTRF HGNC ENSG00000177469 32 0 0.00 38 22 36.67 - - - RBM3 0 genome.wustl.edu 37 X 48434030 48434030 + Missense_Mutation SNP T T A TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 X 48434030 48434030 T A SNP RBM3 ENST00000376755 human ensembl 69_37n +1 known missense c.185 p.V62D 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM3 HGNC ENSG00000102317 51 0 0.00 38 25 39.68 - - - RPTN 0 genome.wustl.edu 37 1 152128042 152128042 + Silent SNP A A G TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 1 152128042 152128042 A G SNP RPTN ENST00000316073 human ensembl 69_37n -1 known silent c.1533 p.Y511 0.023 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2 - no_errors RPTN HGNC ENSG00000215853 312 0 0.00 209 252 54.66 - - - SBSPON 0 genome.wustl.edu 37 8 73982160 73982160 + Nonsense_Mutation SNP C C T TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 8 73982160 73982160 C T SNP SBSPON ENST00000297354 human ensembl 69_37n -1 known nonsense c.557 p.W186* 0.994 NULL superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Somatomedin_B_dom,pfscan_Thrombospondin_1_rpt - no_errors SBSPON HGNC ENSG00000164764 61 0 0.00 71 29 29.00 - - - SCN2B 0 genome.wustl.edu 37 11 118038933 118038933 + Frame_Shift_Del DEL G G - TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 11 118038933 118038933 G - DEL SCN2B ENST00000278947 human ensembl 69_37n -1 known frame_shift_del c.315 p.S106fs 1.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like,prints_Myelin_P0 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like,prints_Myelin_P0 - no_errors SCN2B HGNC ENSG00000149575 45 0 0.00 12 9 42.86 - - - SH3GLB2 0 genome.wustl.edu 37 9 131772130 131772130 + Silent SNP G G T TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 9 131772130 131772130 G T SNP SH3GLB2 ENST00000372554 human ensembl 69_37n -1 known silent c.771 p.L257 0.982 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB2 HGNC ENSG00000148341 29 0 0.00 27 14 34.15 - - - SLC5A5 0 genome.wustl.edu 37 19 17988649 17988649 + Silent SNP C C T TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 19 17988649 17988649 C T SNP SLC5A5 ENST00000222248 human ensembl 69_37n +1 known silent c.816 p.C272 0.730 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A5 HGNC ENSG00000105641 50 0 0.00 45 24 34.78 - - - SLC5A6 0 genome.wustl.edu 37 2 27425725 27425725 + Missense_Mutation SNP G G C TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 2 27425725 27425725 G C SNP SLC5A6 ENST00000310574 human ensembl 69_37n -1 known missense c.1231 p.L411V 1.000 pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A6 HGNC ENSG00000138074 49 0 0.00 27 14 34.15 - - - SPAST 0 genome.wustl.edu 37 2 32361954 32361954 + Missense_Mutation SNP G G T TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 2 32361954 32361954 G T SNP SPAST ENST00000315285 human ensembl 69_37n +1 known missense c.1330 p.D444Y 1.000 pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,pirsf_Spastin pfam_ATPase_AAA_core,pfam_MIT,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_MIT,smart_AAA+_ATPase,pirsf_Spastin - no_errors SPAST HGNC ENSG00000021574 96 0 0.00 72 22 23.40 - - - SSTR4 0 genome.wustl.edu 37 20 23016840 23016840 + Silent SNP C C T TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 20 23016840 23016840 C T SNP SSTR4 ENST00000255008 human ensembl 69_37n +1 known silent c.720 p.A240 0.682 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_supfam,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Somatstn_rcpt_4,prints_7TM_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1 - no_errors SSTR4 HGNC ENSG00000132671 56 0 0.00 32 22 40.74 - - - STON2 0 genome.wustl.edu 37 14 81743745 81743747 + In_Frame_Del DEL GTG GTG - TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 GTG GTG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 14 81743745 81743747 GTG - DEL STON2 ENST00000267540 human ensembl 69_37n -1 known in_frame_del c.1910_1908 p.T637in_frame_del 0.994:0.996:0.998 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C pfam_Stonin2_N,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Stonin,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON2 HGNC ENSG00000140022 52 0 0.00 16 2 11.11 - - - TFG 0 genome.wustl.edu 37 3 100467337 100467337 + Missense_Mutation SNP G G T TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 3 100467337 100467337 G T SNP TFG ENST00000240851 human ensembl 69_37n +1 known missense c.1165 p.G389C 1.000 NULL pfam_OPR_PB1,smart_OPR_PB1 - no_errors TFG HGNC ENSG00000114354 30 0 0.00 12 9 42.86 - - - TLR4 0 genome.wustl.edu 37 9 120475050 120475050 + Missense_Mutation SNP T T C TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 9 120475050 120475050 T C SNP TLR4 ENST00000355622 human ensembl 69_37n +1 known missense c.644 p.M215T 0.345 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 42 0 0.00 25 16 39.02 - - - TLR4 0 genome.wustl.edu 37 9 120475844 120475844 + Missense_Mutation SNP G G T TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 9 120475844 120475844 G T SNP TLR4 ENST00000355622 human ensembl 69_37n +1 known missense c.1438 p.G480C 1.000 pirsf_Toll-like_receptor,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 28 0 0.00 21 12 36.36 - - - TNFRSF8 0 genome.wustl.edu 37 1 12175747 12175747 + Missense_Mutation SNP T T A TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 1 12175747 12175747 T A SNP TNFRSF8 ENST00000263932 human ensembl 69_37n +1 known missense c.907 p.Y303N 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_8 - no_errors TNFRSF8 HGNC ENSG00000120949 44 0 0.00 29 16 35.56 - - - TXNRD1 0 genome.wustl.edu 37 12 104713335 104713335 + Missense_Mutation SNP C C T TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 12 104713335 104713335 C T SNP TXNRD1 ENST00000429002 human ensembl 69_37n +1 known missense c.961 p.P321S 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,tigrfam_Thioredoxin/glutathione_Rdtase pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_Glutaredoxin,superfamily_FAD/NAD-linked_Rdtase_dimer,superfamily_Thioredoxin-like_fold,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Thioredoxin/glutathione_Rdtase - no_errors TXNRD1 HGNC ENSG00000198431 38 0 0.00 19 14 42.42 - - - VPS11 0 genome.wustl.edu 37 11 118948974 118948974 + RNA SNP C C T TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 11 118948974 118948974 C T SNP VPS11 ENST00000300793 human ensembl 69_37n +1 known rna NULL NULL 0.999 - - - no_errors VPS11 HGNC ENSG00000160695 30 0 0.00 20 13 39.39 - - - VWDE 0 genome.wustl.edu 37 7 12391277 12391277 + Missense_Mutation SNP T T C TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 7 12391277 12391277 T C SNP VWDE ENST00000275358 human ensembl 69_37n -1 novel missense c.3808 p.S1270G 0.010 NULL pfam_EGF_extracell,pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EGF-like,pfscan_EG-like_dom - no_errors VWDE HGNC ENSG00000146530 117 0 0.00 73 38 34.23 - - - WIZ 0 genome.wustl.edu 37 19 15536452 15536452 + Silent SNP G G C TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 19 15536452 15536452 G C SNP WIZ ENST00000389282 human ensembl 69_37n -1 known silent c.3780 p.V1260 0.997 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 19 0 0.00 16 5 23.81 - - - ZNF560 0 genome.wustl.edu 37 19 9577765 9577765 + Nonsense_Mutation SNP G G A TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 19 9577765 9577765 G A SNP ZNF560 ENST00000301480 human ensembl 69_37n -1 known nonsense c.1858 p.R620* 0.000 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 ZNF560 HGNC ENSG00000198028 79 0 0.00 59 22 27.16 - - - ZNF799 0 genome.wustl.edu 37 19 12501549 12501550 + Frame_Shift_Del DEL TG TG - TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 TG TG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 19 12501549 12501550 TG - DEL ZNF799 ENST00000430385 human ensembl 69_37n -1 known frame_shift_del c.1663_1662 p.M555fs 0.984:0.994 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 ZNF799 HGNC ENSG00000196466 117 0 0.00 84 13 13.40 - - - ZYG11B 0 genome.wustl.edu 37 1 53267568 53267568 + Silent SNP T T A TCGA-E9-A1R2-01A-11D-A14G-09 TCGA-E9-A1R2-10A-01D-A14G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx b321a2d9-5345-4891-b450-bfd696c6cfb0 bedecc9f-4e3f-4853-b683-2c901c6d3743 1 53267568 53267568 T A SNP ZYG11B ENST00000294353 human ensembl 69_37n +1 known silent c.1563 p.L521 0.996 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors ZYG11B HGNC ENSG00000162378 85 0 0.00 34 24 41.38 - - -