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 ANK1 0 genome.wustl.edu 37 8 41525809 41525809 + Missense_Mutation SNP C C T TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 8 41525809 41525809 C T SNP ANK1 ENST00000520299 human ensembl 69_37n -1 putative missense c.2848 p.E950K 0.000 NULL pfam_ZU5,pfam_Ankyrin_rpt,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ANK1 HGNC ENSG00000029534 190 0 0.00 132 61 31.61 - - - ATAD3B 0 genome.wustl.edu 37 1 1430987 1430987 + Silent SNP C C T TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 1 1430987 1430987 C T SNP ATAD3B ENST00000308647 human ensembl 69_37n +1 known silent c.1737 p.R579 0.000 NULL pfam_DUF3523,pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors ATAD3B HGNC ENSG00000160072 22 0 0.00 3 5 62.50 - - - BHMT2 0 genome.wustl.edu 37 5 78379147 78379147 + Missense_Mutation SNP C C T TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 5 78379147 78379147 C T SNP BHMT2 ENST00000255192 human ensembl 69_37n +1 known missense c.731 p.A244V 0.998 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_Betaine-hCys_S-MeTrfase_BHMT,pfscan_S_MeTrfase - no_errors BHMT2 HGNC ENSG00000132840 112 0 0.00 154 21 12.00 - - - CDH24 0 genome.wustl.edu 37 14 23523784 23523785 + Frame_Shift_Ins INS - - C TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 14 23523784 23523785 - C INS CDH24 ENST00000267383 human ensembl 69_37n -1 known frame_shift_ins c.715_714 p.L238fs 1.000:1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH24 HGNC ENSG00000139880 25 0 0.00 7 4 36.36 - - - CEP95 0 genome.wustl.edu 37 17 62533802 62533802 + Missense_Mutation SNP G G A TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 17 62533802 62533802 G A SNP CEP95 ENST00000556440 human ensembl 69_37n +1 known missense c.2371 p.D791N 1.000 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 113 0 0.00 106 13 10.83 - - - CERCAM 0 genome.wustl.edu 37 9 131186755 131186755 + Missense_Mutation SNP G G T TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 9 131186755 131186755 G T SNP CERCAM ENST00000372838 human ensembl 69_37n +1 known missense c.628 p.V210F 1.000 NULL pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 34 0 0.00 2 9 81.82 - - - CLDN8 0 genome.wustl.edu 37 21 31587665 31587665 + Silent SNP A A G TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 21 31587665 31587665 A G SNP CLDN8 ENST00000286809 human ensembl 69_37n -1 known silent c.579 p.S193 0.000 prints_Claudin8 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin8,prints_Claudin14 - no_errors CLDN8 HGNC ENSG00000156284 155 0 0.00 125 41 24.70 - - - CRISPLD1 0 genome.wustl.edu 37 8 75927084 75927084 + Missense_Mutation SNP C C T TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 8 75927084 75927084 C T SNP CRISPLD1 ENST00000262207 human ensembl 69_37n +1 known missense c.664 p.R222W 0.873 NULL pfam_LCCL,pfam_CAP_domain,superfamily_CAP_domain,superfamily_LCCL,smart_Allrgn_V5/Tpx1,smart_LCCL,pfscan_LCCL,prints_Allrgn_V5/Tpx1 - no_errors CRISPLD1 HGNC ENSG00000121005 31 0 0.00 17 25 59.52 - - - CYR61 0 genome.wustl.edu 37 1 86047823 86047823 + Missense_Mutation SNP G G A TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 1 86047823 86047823 G A SNP CYR61 ENST00000451137 human ensembl 69_37n +1 known missense c.490 p.D164N 1.000 pirsf_IGFBP_CNN,pfscan_VWF_C pfam_Cys_knot,pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors CYR61 HGNC ENSG00000142871 121 0 0.00 15 17 53.12 - - - DCHS2 0 genome.wustl.edu 37 4 155253827 155253827 + Missense_Mutation SNP A A T TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 4 155253827 155253827 A T SNP DCHS2 ENST00000357232 human ensembl 69_37n -1 known missense c.2036 p.I679N 0.003 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 176 0 0.00 170 50 22.73 - - - DENND5A 0 genome.wustl.edu 37 11 9167307 9167307 + Missense_Mutation SNP G G A TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 11 9167307 9167307 G A SNP DENND5A ENST00000531747 human ensembl 69_37n -1 known missense c.149 p.S50L 1.000 NULL pfam_Run - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DENND5A HGNC ENSG00000184014 335 1 0.30 238 129 35.15 - - - FAM124B 0 genome.wustl.edu 37 2 225266148 225266148 + Missense_Mutation SNP T T C TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 2 225266148 225266148 T C SNP FAM124B ENST00000409685 human ensembl 69_37n -1 known missense c.338 p.N113S 0.001 NULL NULL - no_errors FAM124B HGNC ENSG00000124019 78 0 0.00 62 16 20.51 - - - FLNB 0 genome.wustl.edu 37 3 58140575 58140576 + Frame_Shift_Ins INS - - G TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 3 58140575 58140576 - G INS FLNB ENST00000295956 human ensembl 69_37n +1 known frame_shift_ins c.6692_6693 p.S2234fs 1.000:1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNB HGNC ENSG00000136068 38 0 0.00 26 14 35.00 - - - GSPT2 0 genome.wustl.edu 37 X 51488498 51488498 + Silent SNP C C T TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 X 51488498 51488498 C T SNP GSPT2 ENST00000340438 human ensembl 69_37n +1 known silent c.1776 p.I592 1.000 pfam_Transl_elong_EFTu/EF1A_C,superfamily_Transl_elong_EF1A/Init_IF2_C pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd - no_errors GSPT2 HGNC ENSG00000189369 212 0 0.00 111 32 22.38 - - - IGSF3 0 genome.wustl.edu 37 1 117146250 117146250 + Silent SNP A A G TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 1 117146250 117146250 A G SNP IGSF3 ENST00000318837 human ensembl 69_37n -1 known silent c.1680 p.A560 0.921 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors IGSF3 HGNC ENSG00000143061 146 0 0.00 78 27 25.71 - - - ITPKA 0 genome.wustl.edu 37 15 41794697 41794697 + Missense_Mutation SNP T T C TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 15 41794697 41794697 T C SNP ITPKA ENST00000260386 human ensembl 69_37n +1 known missense c.1106 p.V369A 1.000 pfam_IPK pfam_IPK - no_errors ITPKA HGNC ENSG00000137825 11 0 0.00 5 37 88.10 - - - KLHL8 0 genome.wustl.edu 37 4 88104522 88104522 + Missense_Mutation SNP G G A TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 4 88104522 88104522 G A SNP KLHL8 ENST00000273963 human ensembl 69_37n -1 known missense c.785 p.P262L 1.000 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL8 HGNC ENSG00000145332 125 0 0.00 133 54 28.88 - - - LAMA2 0 genome.wustl.edu 37 6 129712680 129712680 + Nonsense_Mutation SNP C C T TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 6 129712680 129712680 C T SNP LAMA2 ENST00000421865 human ensembl 69_37n +1 known nonsense c.5116 p.R1706* 0.991 pfam_Laminin_I pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA2 HGNC ENSG00000196569 362 0 0.00 124 146 54.07 - - - LONP2 0 genome.wustl.edu 37 16 48303987 48303987 + Missense_Mutation SNP A A T TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 16 48303987 48303987 A T SNP LONP2 ENST00000285737 human ensembl 69_37n +1 known missense c.1043 p.K348I 1.000 tigrfam_Pept_S16_lon pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Pept_S16_lon - no_errors LONP2 HGNC ENSG00000102910 174 0 0.00 65 87 57.24 - - - MAGEE1 0 genome.wustl.edu 37 X 75648789 75648789 + Frame_Shift_Del DEL G G - TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 X 75648789 75648789 G - DEL MAGEE1 ENST00000361470 human ensembl 69_37n +1 known frame_shift_del c.466 p.A156fs 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 17 0 0.00 6 6 40.00 - - - MAGEE1 0 genome.wustl.edu 37 X 75648792 75648793 + Frame_Shift_Ins INS - - G TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 X 75648792 75648793 - G INS MAGEE1 ENST00000361470 human ensembl 69_37n +1 known frame_shift_ins c.469_470 p.S157fs 0.000:0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 17 0 0.00 10 4 28.57 - - - MAML2 0 genome.wustl.edu 37 11 95825407 95825407 + Silent SNP C C T TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 11 95825407 95825407 C T SNP MAML2 ENST00000440572 human ensembl 69_37n -1 known silent c.1788 p.Q596 0.003 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 10 0 0.00 15 8 34.78 - - - MAP3K1 0 genome.wustl.edu 37 5 56160594 56160595 + Frame_Shift_Ins INS - - C TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 5 56160594 56160595 - C INS MAP3K1 ENST00000399503 human ensembl 69_37n +1 novel frame_shift_ins c.868_869 p.S292fs 1.000:1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom - no_errors MAP3K1 HGNC ENSG00000095015 151 0 0.00 116 63 35.20 - - - MED7 0 genome.wustl.edu 37 5 156566070 156566070 + Nonsense_Mutation SNP C C A TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 5 156566070 156566070 C A SNP MED7 ENST00000286317 human ensembl 69_37n -1 known nonsense c.373 p.E125* 1.000 pfam_Mediatior_Med7 pfam_Mediatior_Med7 - no_errors MED7 HGNC ENSG00000155868 192 0 0.00 164 74 30.83 - - - MYOM3 0 genome.wustl.edu 37 1 24432477 24432477 + Missense_Mutation SNP C C T TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 1 24432477 24432477 C T SNP MYOM3 ENST00000330966 human ensembl 69_37n -1 known missense c.496 p.V166I 0.997 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM3 HGNC ENSG00000142661 18 0 0.00 4 5 55.56 - - - OPA1 0 genome.wustl.edu 37 3 193365903 193365903 + Missense_Mutation SNP C C T TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 3 193365903 193365903 C T SNP OPA1 ENST00000361510 human ensembl 69_37n +1 known missense c.1915 p.R639C 1.000 NULL pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin - no_errors OPA1 HGNC ENSG00000198836 93 0 0.00 81 26 24.30 - - - OTUD7B 0 genome.wustl.edu 37 1 149931697 149931697 + Missense_Mutation SNP C C T TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 1 149931697 149931697 C T SNP OTUD7B ENST00000369135 human ensembl 69_37n -1 known missense c.751 p.E251K 1.000 pfam_OTU,pfscan_OTU pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 221 0 0.00 306 185 37.68 - - - PDK4 0 genome.wustl.edu 37 7 95216383 95216383 + Missense_Mutation SNP T T A TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 7 95216383 95216383 T A SNP PDK4 ENST00000005178 human ensembl 69_37n -1 known missense c.1034 p.Q345L 1.000 pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core pfam_BCDHK/PDK_N,pfam_ATPase-like_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK4 HGNC ENSG00000004799 33 0 0.00 33 10 23.26 - - - PNLIPRP1 0 genome.wustl.edu 37 10 118368603 118368603 + Missense_Mutation SNP C C T TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 10 118368603 118368603 C T SNP PNLIPRP1 ENST00000358834 human ensembl 69_37n +1 known missense c.1379 p.T460M 0.005 pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase_panc,prints_Lipase - no_errors PNLIPRP1 HGNC ENSG00000187021 43 0 0.00 29 10 25.64 - - - SEC16B 0 genome.wustl.edu 37 1 177905472 177905472 + Silent SNP G G A TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 1 177905472 177905472 G A SNP SEC16B ENST00000308284 human ensembl 69_37n -1 known silent c.2532 p.S844 0.003 NULL NULL - no_errors SEC16B Clone_based_vega_gene ENSG00000120341 35 0 0.00 22 11 33.33 - - - SEMA5B 0 genome.wustl.edu 37 3 122634434 122634434 + Missense_Mutation SNP G G A TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 3 122634434 122634434 G A SNP SEMA5B ENST00000451055 human ensembl 69_37n -1 known missense c.2003 p.P668L 0.993 superfamily_Thrombospondin_1_rpt pfam_Semaphorin/CD100_Ag,pfam_Thrombospondin_1_rpt,superfamily_Semaphorin/CD100_Ag,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Thrombospondin_1_rpt,pfscan_Semaphorin/CD100_Ag,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 62 0 0.00 9 14 60.87 - - - SYCP2 0 genome.wustl.edu 37 20 58467628 58467628 + Missense_Mutation SNP T T C TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 20 58467628 58467628 T C SNP SYCP2 ENST00000357552 human ensembl 69_37n -1 known missense c.1922 p.N641S 0.007 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 236 0 0.00 286 43 13.07 - - - SZRD1 0 genome.wustl.edu 37 1 16719821 16719821 + Missense_Mutation SNP C C T TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 1 16719821 16719821 C T SNP SZRD1 ENST00000375590 human ensembl 69_37n +1 known missense c.140 p.T47I 1.000 NULL NULL - no_errors SZRD1 HGNC ENSG00000055070 82 0 0.00 70 21 22.83 - - - TCF4 0 genome.wustl.edu 37 18 52928697 52928697 + Missense_Mutation SNP C C T TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 18 52928697 52928697 C T SNP TCF4 ENST00000570146 human ensembl 69_37n -1 putative missense c.254 p.R85Q 1.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TCF4 HGNC ENSG00000196628 636 0 0.00 398 97 19.60 - - - WNT2 0 genome.wustl.edu 37 7 116918218 116918218 + Silent SNP G G A TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 7 116918218 116918218 G A SNP WNT2 ENST00000265441 human ensembl 69_37n -1 known silent c.1074 p.T358 0.000 NULL pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2 HGNC ENSG00000105989 49 0 0.00 38 25 39.06 - - - ZCCHC11 0 genome.wustl.edu 37 1 52933940 52933940 + Splice_Site SNP C C A TCGA-A8-A090-01A-11W-A019-09 TCGA-A8-A090-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 783e4c13-8fa5-4591-9453-1e59ca167e10 26d576f7-f43a-4477-be3b-efd4337b48d7 1 52933940 52933940 C A SNP ZCCHC11 ENST00000257177 human ensembl 69_37n -1 known splice_site c.2879-1 e14-1 1.000 - - - no_errors ZCCHC11 HGNC ENSG00000134744 76 0 0.00 64 38 37.25 - - -