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 CCR2 0 genome.wustl.edu 37 3 46399979 46399979 + Nonsense_Mutation SNP C C T TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 3 46399979 46399979 C T SNP CCR2 ENST00000445132 human ensembl 69_37n +1 known nonsense c.961 p.R321* 1.000 prints_Chemokine_rcpt,prints_Chemokine_CCR2 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_CCR2 - no_errors CCR2 HGNC ENSG00000121807 134 0 0.00 76 32 29.36 - - - CDH1 0 genome.wustl.edu 37 16 68862179 68862180 + Frame_Shift_Ins INS - - T TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 16 68862179 68862180 - T INS CDH1 ENST00000261769 human ensembl 69_37n +1 known frame_shift_ins c.2267_2268 p.E757fs 1.000:0.999 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 113 0 0.00 58 24 29.27 - - - CNNM1 0 genome.wustl.edu 37 10 101150099 101150099 + Missense_Mutation SNP C C G TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 10 101150099 101150099 C G SNP CNNM1 ENST00000356713 human ensembl 69_37n +1 known missense c.2711 p.T904R 0.199 NULL pfam_DUF21,pfam_Cysta_beta_synth_core - no_errors CNNM1 HGNC ENSG00000119946 114 0 0.00 81 31 27.68 - - - CPT1A 0 genome.wustl.edu 37 11 68548116 68548116 + Missense_Mutation SNP G G C TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 11 68548116 68548116 G C SNP CPT1A ENST00000265641 human ensembl 69_37n -1 known missense c.1450 p.L484V 0.996 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 82 0 0.00 161 83 33.74 - - - CTPS2 0 genome.wustl.edu 37 X 16716365 16716365 + Frame_Shift_Del DEL A A - TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 X 16716365 16716365 A - DEL CTPS2 ENST00000359276 human ensembl 69_37n -1 known frame_shift_del c.432 p.I145fs 0.098 pfam_CTP_synthase_N,tigrfam_CTP_synthase pfam_CTP_synthase_N,pfam_GATASE_1,pfam_Peptidase_C26,tigrfam_CTP_synthase - no_errors CTPS2 HGNC ENSG00000047230 150 0 0.00 96 20 17.09 - - - CXorf26 0 genome.wustl.edu 37 X 75392998 75392998 + Missense_Mutation SNP G G A TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 X 75392998 75392998 G A SNP CXorf26 ENST00000373358 human ensembl 69_37n +1 known missense c.25 p.E9K 0.003 NULL pfam_Put_polysacc_synth - no_errors CXorf26 HGNC ENSG00000102390 160 0 0.00 127 23 15.23 - - - DOCK2 0 genome.wustl.edu 37 5 169135223 169135223 + Missense_Mutation SNP C C T TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 5 169135223 169135223 C T SNP DOCK2 ENST00000520908 human ensembl 69_37n +1 putative missense c.14 p.P5L 0.009 NULL pfam_DOCK,superfamily_Cyt_c_dom,superfamily_ARM-type_fold,superfamily_Ferritin/RR-like - no_errors DOCK2 HGNC ENSG00000134516 117 0 0.00 100 16 13.68 - - - FAM111B 0 genome.wustl.edu 37 11 58892377 58892377 + Frame_Shift_Del DEL A A - TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 11 58892377 58892377 A - DEL FAM111B ENST00000343597 human ensembl 69_37n +1 known frame_shift_del c.807 p.K272fs 0.000 NULL superfamily_Pept_cys/ser_Trypsin-like - no_errors FAM111B HGNC ENSG00000189057 74 0 0.00 35 4 10.26 - - - FAM193A 0 genome.wustl.edu 37 4 2717831 2717831 + Missense_Mutation SNP G G C TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 4 2717831 2717831 G C SNP FAM193A ENST00000324666 human ensembl 69_37n +1 known missense c.3704 p.R1235T 1.000 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 261 0 0.00 147 43 22.51 - - - FUBP1 0 genome.wustl.edu 37 1 78414918 78414918 + Silent SNP A A G TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 1 78414918 78414918 A G SNP FUBP1 ENST00000436586 human ensembl 69_37n -1 known silent c.1911 p.A637 0.990 pfam_DUF1897 pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP1 HGNC ENSG00000162613 127 0 0.00 56 35 38.04 - - - GPR37 0 genome.wustl.edu 37 7 124387024 124387024 + Missense_Mutation SNP G G A TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 7 124387024 124387024 G A SNP GPR37 ENST00000303921 human ensembl 69_37n -1 known missense c.1397 p.A466V 1.000 pfam_7TM_GPCR_Rhodpsn,prints_GPR37_rcpt,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_GPR37_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR37 HGNC ENSG00000170775 116 0 0.00 90 33 26.61 - - - HCFC1R1 0 genome.wustl.edu 37 16 3073329 3073331 + In_Frame_Del DEL CTC CTC - TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 16 3073329 3073331 CTC - DEL HCFC1R1 ENST00000248089 human ensembl 69_37n -1 known in_frame_del c.186_184 p.E62in_frame_del 1.000:1.000:1.000 NULL NULL - no_errors HCFC1R1 HGNC ENSG00000103145 95 0 0.00 97 11 10.19 - - - HMGCLL1 0 genome.wustl.edu 37 6 55441924 55441924 + Silent SNP G G C TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 6 55441924 55441924 G C SNP HMGCLL1 ENST00000398661 human ensembl 69_37n -1 known silent c.150 p.V50 0.007 NULL pfam_PYR_CT,pfscan_PYR_CT - no_errors HMGCLL1 HGNC ENSG00000146151 72 0 0.00 64 59 47.97 - - - HMGCLL1 0 genome.wustl.edu 37 6 55443840 55443840 + Missense_Mutation SNP G G A TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 6 55443840 55443840 G A SNP HMGCLL1 ENST00000398661 human ensembl 69_37n -1 known missense c.14 p.P5L 0.975 NULL pfam_PYR_CT,pfscan_PYR_CT - no_errors HMGCLL1 HGNC ENSG00000146151 34 0 0.00 24 34 57.63 - - - HMGCLL1 0 genome.wustl.edu 37 6 55443841 55443841 + Missense_Mutation SNP G G C TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 6 55443841 55443841 G C SNP HMGCLL1 ENST00000398661 human ensembl 69_37n -1 known missense c.13 p.P5A 0.986 NULL pfam_PYR_CT,pfscan_PYR_CT - no_errors HMGCLL1 HGNC ENSG00000146151 34 0 0.00 25 34 57.63 - - - HS6ST1 0 genome.wustl.edu 37 2 129075877 129075877 + Missense_Mutation SNP G G T TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 2 129075877 129075877 G T SNP HS6ST1 ENST00000259241 human ensembl 69_37n -1 known missense c.261 p.D87E 1.000 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors HS6ST1 HGNC ENSG00000136720 16 0 0.00 22 7 24.14 - - - IL11RA 0 genome.wustl.edu 37 9 34655292 34655292 + Silent SNP C C T TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 9 34655292 34655292 C T SNP IL11RA ENST00000318041 human ensembl 69_37n +1 known silent c.78 p.C26 0.975 NULL superfamily_Fibronectin_type3,smart_Ig_sub,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IL11RA HGNC ENSG00000137070 24 0 0.00 18 8 30.77 - - - IL1R2 0 genome.wustl.edu 37 2 102626044 102626044 + Missense_Mutation SNP T T A TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 2 102626044 102626044 T A SNP IL1R2 ENST00000332549 human ensembl 69_37n +1 known missense c.88 p.F30I 0.000 pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like,prints_Interleukin-1_rcpt_II,prints_IL1_rcpt_I/II - no_errors IL1R2 HGNC ENSG00000115590 72 0 0.00 46 15 24.19 - - - KDM6A 0 genome.wustl.edu 37 X 44896936 44896936 + Splice_Site SNP T T G TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 X 44896936 44896936 T G SNP KDM6A ENST00000382899 human ensembl 69_37n +1 known splice_site c.654+2 e8+2 1.000 - - - no_errors KDM6A HGNC ENSG00000147050 177 0 0.00 104 37 26.06 - - - LRP2 0 genome.wustl.edu 37 2 170060647 170060647 + Missense_Mutation SNP C C A TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 2 170060647 170060647 C A SNP LRP2 ENST00000263816 human ensembl 69_37n -1 known missense c.7850 p.R2617L 1.000 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP2 HGNC ENSG00000081479 219 0 0.00 130 34 20.61 - - - MFSD11 0 genome.wustl.edu 37 17 74735072 74735072 + Missense_Mutation SNP C C G TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 17 74735072 74735072 C G SNP MFSD11 ENST00000336509 human ensembl 69_37n +1 known missense c.149 p.T50S 1.000 pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_Ion_channel_UNC-93,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD11 HGNC ENSG00000092931 152 0 0.00 82 32 27.83 - - - NLRC4 0 genome.wustl.edu 37 2 32460481 32460481 + Missense_Mutation SNP A A G TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 2 32460481 32460481 A G SNP NLRC4 ENST00000360906 human ensembl 69_37n -1 known missense c.2771 p.I924T 0.118 NULL pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 144 0 0.00 105 25 19.08 - - - PCDHGA12 0 genome.wustl.edu 37 5 140812078 140812078 + Silent SNP C C A TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 5 140812078 140812078 C A SNP PCDHGA12 ENST00000252085 human ensembl 69_37n +1 known silent c.1752 p.P584 0.108 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 48 0 0.00 32 22 40.74 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 75 0 0.00 44 9 16.98 - - - PPCDC 0 genome.wustl.edu 37 15 75341501 75341501 + Silent SNP C C T TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 15 75341501 75341501 C T SNP PPCDC ENST00000342932 human ensembl 69_37n +1 known silent c.540 p.A180 1.000 superfamily_Flavoprotein pfam_Flavoprotein,superfamily_Flavoprotein - no_errors PPCDC HGNC ENSG00000138621 101 0 0.00 64 23 26.44 - - - SF3B2 0 genome.wustl.edu 37 11 65825830 65825830 + Missense_Mutation SNP C C T TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 11 65825830 65825830 C T SNP SF3B2 ENST00000322535 human ensembl 69_37n +1 known missense c.920 p.S307L 0.997 NULL pfam_DUF382,pfam_PSP,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_PSP,pfscan_SAP_DNA-bd - no_errors SF3B2 HGNC ENSG00000087365 61 0 0.00 85 29 25.22 - - - SPEG 0 genome.wustl.edu 37 2 220337000 220337000 + Missense_Mutation SNP G G T TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 2 220337000 220337000 G T SNP SPEG ENST00000312358 human ensembl 69_37n +1 novel missense c.3887 p.G1296V 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors SPEG HGNC ENSG00000072195 25 0 0.00 21 5 19.23 - - - TDRKH 0 genome.wustl.edu 37 1 151748589 151748589 + Silent SNP C C T TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 1 151748589 151748589 C T SNP TDRKH ENST00000368822 human ensembl 69_37n -1 known silent c.1200 p.K400 0.787 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_KH_dom_type_1,pfam_Tudor,smart_KH_dom,smart_Tudor,pfscan_Tudor,pfscan_KH_dom_type_1 - no_errors TDRKH HGNC ENSG00000182134 136 0 0.00 107 19 15.08 - - - THSD7A 0 genome.wustl.edu 37 7 11581237 11581237 + Missense_Mutation SNP C C T TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 7 11581237 11581237 C T SNP THSD7A ENST00000423059 human ensembl 69_37n -1 known missense c.1631 p.R544H 0.091 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7A HGNC ENSG00000005108 98 0 0.00 70 22 23.91 - - - VWDE 0 genome.wustl.edu 37 7 12373131 12373131 + Missense_Mutation SNP C C T TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 7 12373131 12373131 C T SNP VWDE ENST00000275358 human ensembl 69_37n -1 novel missense c.4718 p.R1573H 0.862 smart_EGF-like 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 81 0 0.00 49 25 33.33 - - - ZFP36L1 0 genome.wustl.edu 37 14 69256739 69256741 + In_Frame_Del DEL GAT GAT - TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 GAT GAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 14 69256739 69256741 GAT - DEL ZFP36L1 ENST00000336440 human ensembl 69_37n -1 known in_frame_del c.528_526 p.I176in_frame_del 1.000:1.000:1.000 pfam_Znf_CCCH,smart_Znf_CCCH pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L1 HGNC ENSG00000185650 43 0 0.00 27 13 32.50 - - - ZIC4 0 genome.wustl.edu 37 3 147114016 147114016 + Missense_Mutation SNP G G A TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 3 147114016 147114016 G A SNP ZIC4 ENST00000525172 human ensembl 69_37n -1 known missense c.461 p.T154M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC4 HGNC ENSG00000174963 25 0 0.00 16 10 38.46 - - - ZMIZ2 0 genome.wustl.edu 37 7 44802938 44802938 + Missense_Mutation SNP G G A TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 7 44802938 44802938 G A SNP ZMIZ2 ENST00000309315 human ensembl 69_37n +1 known missense c.1786 p.V596M 1.000 pfam_Znf_MIZ,pfscan_Znf_MIZ pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 65 0 0.00 54 18 24.66 - - - ZNF618 0 genome.wustl.edu 37 9 116794996 116794996 + Nonsense_Mutation SNP C C T TCGA-A2-A0T4-01A-31D-A099-09 TCGA-A2-A0T4-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 0f1b1fda-4956-498a-b8ff-e98b5d64e509 ab57a14c-8ada-4971-8cbd-22a455256bd4 9 116794996 116794996 C T SNP ZNF618 ENST00000374126 human ensembl 69_37n +1 known nonsense c.1156 p.Q386* 1.000 NULL superfamily_RNaseH-like_dom,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF618 HGNC ENSG00000157657 82 0 0.00 56 11 16.42 - - -