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 APOB 0 genome.wustl.edu 37 2 21260974 21260974 + Silent SNP G G A TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 2 21260974 21260974 G A SNP APOB ENST00000233242 human ensembl 69_37n -1 known silent c.393 p.L131 0.999 pfam_Lipid_transpt_N,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 174 0 0.00 80 24 23.08 - - - ATP1A3 0 genome.wustl.edu 37 19 42471431 42471431 + Missense_Mutation SNP G G A TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 19 42471431 42471431 G A SNP ATP1A3 ENST00000545399 human ensembl 69_37n -1 known missense c.3022 p.R1008C 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_cation-ex_asu_euk pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP1A3 HGNC ENSG00000105409 57 0 0.00 42 36 46.15 - - - CTTNBP2 0 genome.wustl.edu 37 7 117398014 117398014 + Missense_Mutation SNP C C T TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 7 117398014 117398014 C T SNP CTTNBP2 ENST00000435233 human ensembl 69_37n -1 novel missense c.224 p.R75H 0.003 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CTTNBP2 HGNC ENSG00000077063 182 1 0.55 67 10 12.99 - - - DHRS2 0 genome.wustl.edu 37 14 24112421 24112421 + Nonsense_Mutation SNP G G T TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 14 24112421 24112421 G T SNP DHRS2 ENST00000344777 human ensembl 69_37n +1 known nonsense c.481 p.E161* 1.000 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect - no_errors DHRS2 HGNC ENSG00000100867 38 0 0.00 33 41 55.41 - - - DNM3 0 genome.wustl.edu 37 1 172376937 172376937 + Missense_Mutation SNP C C T TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 1 172376937 172376937 C T SNP DNM3 ENST00000358155 human ensembl 69_37n +1 known missense c.2548 p.R850C 1.000 NULL pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin - no_errors DNM3 HGNC ENSG00000197959 591 0 0.00 932 128 12.05 - - - DPYS 0 genome.wustl.edu 37 8 105463599 105463599 + Missense_Mutation SNP C C G TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 8 105463599 105463599 C G SNP DPYS ENST00000351513 human ensembl 69_37n -1 known missense c.298 p.D100H 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYS HGNC ENSG00000147647 190 0 0.00 56 66 54.10 - - - FAM59A 0 genome.wustl.edu 37 18 29867436 29867436 + Missense_Mutation SNP G G A TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 18 29867436 29867436 G A SNP FAM59A ENST00000269209 human ensembl 69_37n -1 known missense c.1124 p.A375V 1.000 NULL superfamily_SAM/pointed - no_errors FAM59A HGNC ENSG00000141441 256 0 0.00 166 23 12.04 - - - FANCB 0 genome.wustl.edu 37 X 14871234 14871235 + Frame_Shift_Ins INS - - T TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b X 14871234 14871235 - T INS FANCB ENST00000324138 human ensembl 69_37n -1 known frame_shift_ins c.1253_1252 p.I418fs 0.859:0.810 NULL NULL - no_errors FANCB HGNC ENSG00000181544 212 0 0.00 160 45 21.95 - - - FBXO30 0 genome.wustl.edu 37 6 146126058 146126058 + Missense_Mutation SNP G G A TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 6 146126058 146126058 G A SNP FBXO30 ENST00000237281 human ensembl 69_37n -1 known missense c.1484 p.P495L 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,superfamily_TRAF-like,pfscan_F-box_dom_cyclin-like,pfscan_Znf_TRAF - no_errors FBXO30 HGNC ENSG00000118496 141 0 0.00 39 26 39.39 - - - FSCB 0 genome.wustl.edu 37 14 44973848 44973848 + Silent SNP T T C TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 14 44973848 44973848 T C SNP FSCB ENST00000340446 human ensembl 69_37n -1 known silent c.2343 p.E781 0.000 NULL NULL - no_errors FSCB HGNC ENSG00000189139 73 0 0.00 24 24 50.00 - - - GALNTL6 0 genome.wustl.edu 37 4 172735880 172735880 + Missense_Mutation SNP C C A TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 4 172735880 172735880 C A SNP GALNTL6 ENST00000511251 human ensembl 69_37n +1 putative missense c.149 p.T50N 0.000 NULL NULL - no_errors GALNTL6 HGNC ENSG00000174473 123 0 0.00 135 28 17.18 - - - GBP4 0 genome.wustl.edu 37 1 89661003 89661003 + Missense_Mutation SNP C C T TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 1 89661003 89661003 C T SNP GBP4 ENST00000355754 human ensembl 69_37n -1 known missense c.340 p.E114K 1.000 pfam_Guanylate-bd_N pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C - no_errors GBP4 HGNC ENSG00000162654 247 0 0.00 129 77 37.38 - - - GPR182 0 genome.wustl.edu 37 12 57389412 57389412 + Missense_Mutation SNP G G A TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 12 57389412 57389412 G A SNP GPR182 ENST00000300098 human ensembl 69_37n +1 known missense c.419 p.S140N 1.000 pfam_7TM_GPCR_Rhodpsn,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_G10D_rcpt,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,pfscan_GPCR_Rhodpsn_supfam - no_errors GPR182 HGNC ENSG00000166856 303 0 0.00 87 142 62.01 - - - GREB1L 0 genome.wustl.edu 37 18 19098026 19098026 + Missense_Mutation SNP T T A TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 18 19098026 19098026 T A SNP GREB1L ENST00000424526 human ensembl 69_37n +1 known missense c.5303 p.L1768H 1.000 NULL NULL - no_errors GREB1L HGNC ENSG00000141449 171 0 0.00 95 125 56.82 - - - IGLV1-47 0 genome.wustl.edu 37 22 22712558 22712558 + Missense_Mutation SNP G G A TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 22 22712558 22712558 G A SNP IGLV1-47 ENST00000390294 human ensembl 69_37n +1 known missense c.301 p.E101K 1.000 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGLV1-47 HGNC ENSG00000211648 248 0 0.00 113 44 27.85 - - - IQGAP2 0 genome.wustl.edu 37 5 75967586 75967586 + Nonsense_Mutation SNP C C A TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 5 75967586 75967586 C A SNP IQGAP2 ENST00000274364 human ensembl 69_37n +1 known nonsense c.2846 p.S949* 1.000 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP - no_errors IQGAP2 HGNC ENSG00000145703 286 0 0.00 146 19 11.52 - - - IWS1 0 genome.wustl.edu 37 2 128262380 128262380 + Nonsense_Mutation SNP C C A TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 2 128262380 128262380 C A SNP IWS1 ENST00000295321 human ensembl 69_37n -1 known nonsense c.1099 p.E367* 1.000 NULL pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 809 0 0.00 126 579 82.01 - - - LIPE 0 genome.wustl.edu 37 19 42930910 42930910 + Missense_Mutation SNP A A C TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 19 42930910 42930910 A C SNP LIPE ENST00000244289 human ensembl 69_37n -1 known missense c.392 p.L131W 0.003 NULL pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 208 0 0.00 232 148 38.85 - - - LTN1 0 genome.wustl.edu 37 21 30316846 30316846 + Missense_Mutation SNP C C T TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 21 30316846 30316846 C T SNP LTN1 ENST00000361371 human ensembl 69_37n -1 known missense c.3841 p.A1281T 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_ARM-type_fold,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors LTN1 HGNC ENSG00000198862 163 0 0.00 39 62 60.78 - - - MUC4 0 genome.wustl.edu 37 3 195505960 195505960 + Missense_Mutation SNP G G C TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 3 195505960 195505960 G C SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.12491 p.T4164S 0.904 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 13 0 0.00 206 116 36.02 - - - MYB 0 genome.wustl.edu 37 6 135510996 135510997 + Frame_Shift_Ins INS - - T TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 6 135510996 135510997 - T INS MYB ENST00000341911 human ensembl 69_37n +1 known frame_shift_ins c.281_282 p.W95fs 1.000:0.791 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 184 0 0.00 38 67 63.81 - - - NAA25 0 genome.wustl.edu 37 12 112513493 112513493 + Silent SNP G G C TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 12 112513493 112513493 G C SNP NAA25 ENST00000261745 human ensembl 69_37n -1 known silent c.765 p.L255 1.000 NULL pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom - no_errors NAA25 HGNC ENSG00000111300 209 0 0.00 241 39 13.93 - - - NTN4 0 genome.wustl.edu 37 12 96063918 96063918 + Silent SNP T T C TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 12 96063918 96063918 T C SNP NTN4 ENST00000343702 human ensembl 69_37n -1 known silent c.1515 p.K505 1.000 superfamily_TIMP-like_OB-fold pfam_Laminin_N,pfam_EGF_laminin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_Netrin_module_non-TIMP,pfscan_EGF_laminin,pfscan_Laminin_N,pfscan_Netrin_domain - no_errors NTN4 HGNC ENSG00000074527 248 0 0.00 75 168 69.14 - - - OR2W5 0 genome.wustl.edu 37 1 247654611 247654611 + RNA SNP T T A TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 1 247654611 247654611 T A SNP OR2W5 ENST00000522351 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors OR2W5 HGNC ENSG00000203664 295 0 0.00 300 42 12.28 - - - OR51A4 0 genome.wustl.edu 37 11 4967799 4967799 + Missense_Mutation SNP G G A TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 11 4967799 4967799 G A SNP OR51A4 ENST00000380373 human ensembl 69_37n -1 known missense c.532 p.H178Y 0.248 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR51A4 HGNC ENSG00000205497 513 0 0.00 154 76 33.04 - - - PMVK 0 genome.wustl.edu 37 1 154904864 154904864 + Silent SNP G G A TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 1 154904864 154904864 G A SNP PMVK ENST00000368467 human ensembl 69_37n -1 known silent c.123 p.L41 0.985 pfam_Pmev_kin_anim,pirsf_Pmev_kin_anim,tigrfam_Pmev_kin_anim pfam_Pmev_kin_anim,pirsf_Pmev_kin_anim,tigrfam_Pmev_kin_anim - no_errors PMVK HGNC ENSG00000163344 256 0 0.00 248 74 22.98 - - - PYCR2 0 genome.wustl.edu 37 1 226109671 226109671 + Missense_Mutation SNP C C A TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 1 226109671 226109671 C A SNP PYCR2 ENST00000343818 human ensembl 69_37n -1 known missense c.427 p.V143L 1.000 pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase pfam_NADP_OxRdtase_F420,superfamily_6-PGluconate_DH_C-like,pirsf_Pyrroline-COOH_reductase,tigrfam_Pyrroline-COOH_reductase - no_errors PYCR2 HGNC ENSG00000143811 56 0 0.00 57 9 13.64 - - - SEC61A2 0 genome.wustl.edu 37 10 12211338 12211338 + RNA SNP G G A TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 10 12211338 12211338 G A SNP SEC61A2 ENST00000495368 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SEC61A2 HGNC ENSG00000065665 252 1 0.39 189 47 19.92 - - - TMEM132B 0 genome.wustl.edu 37 12 126139187 126139187 + Nonsense_Mutation SNP C C A TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 12 126139187 126139187 C A SNP TMEM132B ENST00000299308 human ensembl 69_37n +1 known nonsense c.3168 p.C1056* 1.000 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 63 0 0.00 26 57 68.67 - - - TMEM161A 0 genome.wustl.edu 37 19 19240990 19240990 + Missense_Mutation SNP C C A TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 19 19240990 19240990 C A SNP TMEM161A ENST00000162044 human ensembl 69_37n -1 known missense c.570 p.E190D 0.948 pfam_Transmembrane_161A/B pfam_Transmembrane_161A/B - no_errors TMEM161A HGNC ENSG00000064545 108 0 0.00 21 17 44.74 - - - TRIO 0 genome.wustl.edu 37 5 14504592 14504592 + Silent SNP C C T TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 5 14504592 14504592 C T SNP TRIO ENST00000344204 human ensembl 69_37n +1 known silent c.8502 p.R2834 0.800 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_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 100 0 0.00 100 32 24.24 - - - UHRF1BP1 0 genome.wustl.edu 37 6 34802149 34802149 + Missense_Mutation SNP G G A TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 6 34802149 34802149 G A SNP UHRF1BP1 ENST00000192788 human ensembl 69_37n +1 known missense c.494 p.R165H 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 104 1 0.95 191 35 15.42 - - - ZFP90 0 genome.wustl.edu 37 16 68591931 68591931 + Missense_Mutation SNP G G T TCGA-A2-A0ET-01A-31D-A045-09 TCGA-A2-A0ET-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx f7b40023-4adc-4c7d-ae73-5c10ddcbc0fb 2f6a3862-f59a-4b35-9444-11db363db47b 16 68591931 68591931 G T SNP ZFP90 ENST00000398253 human ensembl 69_37n +1 known missense c.64 p.D22Y 1.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZFP90 HGNC ENSG00000184939 624 0 0.00 145 143 49.65 - - -