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 CBFB 0 genome.wustl.edu 37 16 67100664 67100664 + Missense_Mutation SNP G G A TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 16 67100664 67100664 G A SNP CBFB ENST00000290858 human ensembl 69_37n +1 known missense c.362 p.G121D 1.000 pfam_CBF_beta,superfamily_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC ENSG00000067955 56 0 0.00 43 38 46.91 - - - CNGB1 0 genome.wustl.edu 37 16 57951250 57951250 + Silent SNP G G A TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 16 57951250 57951250 G A SNP CNGB1 ENST00000251102 human ensembl 69_37n -1 known silent c.2088 p.Y696 1.000 NULL pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGB1 HGNC ENSG00000070729 74 0 0.00 55 36 39.13 - - - CSNK1G3 0 genome.wustl.edu 37 5 122911423 122911423 + Missense_Mutation SNP A A G TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 5 122911423 122911423 A G SNP CSNK1G3 ENST00000360683 human ensembl 69_37n +1 known missense c.439 p.I147V 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_Casein_kinase-1_gamma_C,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 - no_errors CSNK1G3 HGNC ENSG00000151292 280 0 0.00 228 108 32.14 - - - GGT1 0 genome.wustl.edu 37 22 25023893 25023893 + Missense_Mutation SNP G G A TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 22 25023893 25023893 G A SNP GGT1 ENST00000248923 human ensembl 69_37n +1 known missense c.1283 p.S428N 0.998 pfam_GGT_peptidase,tigrfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC ENSG00000100031 31 0 0.00 50 10 16.67 - - - GRHL2 0 genome.wustl.edu 37 8 102571041 102571041 + Splice_Site SNP G G T TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 8 102571041 102571041 G T SNP GRHL2 ENST00000251808 human ensembl 69_37n +1 known splice_site c.678+1 e4+1 1.000 - - - no_errors GRHL2 HGNC ENSG00000083307 69 0 0.00 61 32 34.41 - - - HELZ 0 genome.wustl.edu 37 17 65157188 65157188 + Missense_Mutation SNP A A C TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 17 65157188 65157188 A C SNP HELZ ENST00000358691 human ensembl 69_37n -1 known missense c.1900 p.W634G 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors HELZ HGNC ENSG00000198265 166 0 0.00 124 43 25.75 - - - HIST1H1C 0 genome.wustl.edu 37 6 26056062 26056062 + Missense_Mutation SNP T T C TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 6 26056062 26056062 T C SNP HIST1H1C ENST00000343677 human ensembl 69_37n -1 known missense c.595 p.K199E 1.000 prints_Histone_H5 pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5 - no_errors HIST1H1C HGNC ENSG00000187837 80 0 0.00 125 39 23.78 - - - IGSF1 0 genome.wustl.edu 37 X 130410201 130410201 + Missense_Mutation SNP A A T TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 X 130410201 130410201 A T SNP IGSF1 ENST00000370903 human ensembl 69_37n -1 known missense c.2645 p.L882H 1.000 pfscan_Ig-like pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors IGSF1 HGNC ENSG00000147255 213 0 0.00 226 91 28.44 - - - KIAA1984 0 genome.wustl.edu 37 9 139701290 139701291 + Frame_Shift_Ins INS - - C TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 9 139701290 139701291 - C INS KIAA1984 ENST00000338005 human ensembl 69_37n +1 known frame_shift_ins c.1360_1361 p.R454fs 0.000:0.000 NULL NULL - no_errors KIAA1984 HGNC ENSG00000213213 17 0 0.00 8 7 46.67 - - - LRP2 0 genome.wustl.edu 37 2 169997024 169997025 + Frame_Shift_Ins INS - - G TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 2 169997024 169997025 - G INS LRP2 ENST00000263816 human ensembl 69_37n -1 known frame_shift_ins c.13140_13139 p.C4381fs 1.000:1.000 superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom 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 38 0 0.00 72 10 12.20 - - - MALAT1 0 genome.wustl.edu 37 11 65268696 65268696 + RNA DEL T T - TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 11 65268696 65268696 T - DEL MALAT1 ENST00000534336 human ensembl 69_37n +1 known rna NULL NULL 0.048 - - - no_errors MALAT1 HGNC ENSG00000251562 39 0 0.00 74 20 20.41 - - - MYO5B 0 genome.wustl.edu 37 18 47432808 47432808 + Missense_Mutation SNP G G A TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 18 47432808 47432808 G A SNP MYO5B ENST00000285039 human ensembl 69_37n -1 known missense c.2395 p.R799W 1.000 pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5B HGNC ENSG00000167306 19 0 0.00 29 17 36.96 - - - OR10H2 0 genome.wustl.edu 37 19 15839336 15839336 + Silent SNP G G A TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 19 15839336 15839336 G A SNP OR10H2 ENST00000305899 human ensembl 69_37n +1 known silent c.483 p.S161 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10H2 HGNC ENSG00000171942 101 0 0.00 190 87 31.29 - - - OTUD6A 0 genome.wustl.edu 37 X 69282426 69282426 + Missense_Mutation SNP G G A TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 X 69282426 69282426 G A SNP OTUD6A ENST00000338352 human ensembl 69_37n +1 known missense c.52 p.E18K 0.034 NULL pfam_OTU,pfscan_OTU - no_errors OTUD6A HGNC ENSG00000189401 9 0 0.00 21 10 32.26 - - - OXCT2 0 genome.wustl.edu 37 1 40235448 40235448 + Missense_Mutation SNP C C T TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 1 40235448 40235448 C T SNP OXCT2 ENST00000327582 human ensembl 69_37n -1 known missense c.1480 p.D494N 0.171 pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT2 HGNC ENSG00000198754 16 0 0.00 32 15 31.91 - - - PDE11A 0 genome.wustl.edu 37 2 178762823 178762823 + Missense_Mutation SNP G G A TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 2 178762823 178762823 G A SNP PDE11A ENST00000286063 human ensembl 69_37n -1 known missense c.1264 p.R422C 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE11A HGNC ENSG00000128655 334 0 0.00 337 121 26.42 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 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 231 0 0.00 200 66 24.81 - - - PRPF4B 0 genome.wustl.edu 37 6 4049302 4049302 + Missense_Mutation SNP A A G TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 6 4049302 4049302 A G SNP PRPF4B ENST00000337659 human ensembl 69_37n +1 known missense c.1988 p.N663S 1.000 NULL 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 - no_errors PRPF4B HGNC ENSG00000112739 110 1 0.90 137 42 23.33 - - - PRRX1 0 genome.wustl.edu 37 1 170695530 170695530 + Missense_Mutation SNP C C T TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 1 170695530 170695530 C T SNP PRRX1 ENST00000239461 human ensembl 69_37n +1 known missense c.587 p.A196V 1.000 NULL pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PRRX1 HGNC ENSG00000116132 138 0 0.00 210 71 25.27 - - - RAPGEF4 0 genome.wustl.edu 37 2 173891808 173891808 + Splice_Site SNP G G C TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 2 173891808 173891808 G C SNP RAPGEF4 ENST00000397081 human ensembl 69_37n +1 known splice_site c.2380-1 e25-1 1.000 - - - no_errors RAPGEF4 HGNC ENSG00000091428 124 0 0.00 153 69 31.08 - - - SACS 0 genome.wustl.edu 37 13 23912580 23912580 + Missense_Mutation SNP G G C TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 13 23912580 23912580 G C SNP SACS ENST00000382292 human ensembl 69_37n -1 known missense c.5435 p.T1812R 1.000 NULL pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 249 0 0.00 176 75 29.88 - - - SIPA1L2 0 genome.wustl.edu 37 1 232651059 232651059 + Missense_Mutation SNP T T G TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 1 232651059 232651059 T G SNP SIPA1L2 ENST00000262861 human ensembl 69_37n -1 known missense c.27 p.E9D 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC ENSG00000116991 181 0 0.00 247 69 21.77 - - - SLC17A7 0 genome.wustl.edu 37 19 49938068 49938069 + Frame_Shift_Ins INS - - A TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 19 49938068 49938069 - A INS SLC17A7 ENST00000221485 human ensembl 69_37n -1 known frame_shift_ins c.506_505 p.Y169fs 1.000:1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A7 HGNC ENSG00000104888 60 0 0.00 38 21 35.59 - - - SPDYE6 0 genome.wustl.edu 37 7 102294074 102294074 + Missense_Mutation SNP T T C TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 7 102294074 102294074 T C SNP SPDYE6 ENST00000436228 human ensembl 69_37n +1 known missense c.337 p.S113P 0.002 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE6 HGNC ENSG00000173678 27 0 0.00 23 4 14.81 - - - SYNE2 0 genome.wustl.edu 37 14 64625506 64625506 + Missense_Mutation SNP A A G TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 14 64625506 64625506 A G SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.15956 p.N5319S 0.676 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 105 0 0.00 46 21 31.34 - - - TBL1XR1 0 genome.wustl.edu 37 3 176769296 176769297 + Frame_Shift_Del DEL TA TA - TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 3 176769296 176769297 TA - DEL TBL1XR1 ENST00000430069 human ensembl 69_37n -1 known frame_shift_del c.423_422 p.I141fs 1.000:1.000 NULL pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL1XR1 HGNC ENSG00000177565 177 0 0.00 171 54 23.68 - - - TBL1XR1 0 genome.wustl.edu 37 3 176769299 176769300 + Frame_Shift_Ins INS - - TG TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 3 176769299 176769300 - TG INS TBL1XR1 ENST00000430069 human ensembl 69_37n -1 known frame_shift_ins c.420_419 p.A142fs 0.264:0.288 NULL pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL1XR1 HGNC ENSG00000177565 176 0 0.00 143 80 35.87 - - - UBE4B 0 genome.wustl.edu 37 1 10231364 10231364 + Missense_Mutation SNP G G A TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 1 10231364 10231364 G A SNP UBE4B ENST00000343090 human ensembl 69_37n +1 known missense c.3502 p.A1168T 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 219 0 0.00 188 75 28.52 - - - UNC79 0 genome.wustl.edu 37 14 94088964 94088964 + Missense_Mutation SNP G G T TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 14 94088964 94088964 G T SNP UNC79 ENST00000553484 human ensembl 69_37n +1 known missense c.5451 p.E1817D 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 317 0 0.00 286 137 32.39 - - - WNK3 0 genome.wustl.edu 37 X 54275401 54275401 + Missense_Mutation SNP A A G TCGA-A8-A096-01A-11W-A019-09 TCGA-A8-A096-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 8a411a0a-ec66-4d9f-b0e4-f1c1f969d605 6fc71cee-3a74-4d03-ac3c-da56af94dab7 X 54275401 54275401 A G SNP WNK3 ENST00000354646 human ensembl 69_37n -1 known missense c.3380 p.I1127T 0.260 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors WNK3 HGNC ENSG00000196632 340 0 0.00 301 115 27.64 - - -