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 ABCC8 0 genome.wustl.edu 37 11 17482153 17482153 + Missense_Mutation SNP C C T TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 11 17482153 17482153 C T SNP ABCC8 ENST00000302539 human ensembl 69_37n -1 known missense c.893 p.R298H 1.000 superfamily_ABC_transptrTM_dom_typ1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCC8 HGNC ENSG00000006071 40 0 0.00 26 13 33.33 - - - ANKRD6 0 genome.wustl.edu 37 6 90338952 90338952 + Missense_Mutation SNP C C G TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 6 90338952 90338952 C G SNP ANKRD6 ENST00000339746 human ensembl 69_37n +1 known missense c.1607 p.S536C 0.693 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD6 HGNC ENSG00000135299 247 0 0.00 126 86 40.57 - - - ANXA6 0 genome.wustl.edu 37 5 150483215 150483215 + Missense_Mutation SNP C C G TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 5 150483215 150483215 C G SNP ANXA6 ENST00000354546 human ensembl 69_37n -1 known missense c.1878 p.M626I 1.000 pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVI,prints_AnnexinIV - no_errors ANXA6 HGNC ENSG00000197043 212 0 0.00 126 61 32.62 - - - ATP13A2 0 genome.wustl.edu 37 1 17316489 17316489 + Nonsense_Mutation SNP G G A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 1 17316489 17316489 G A SNP ATP13A2 ENST00000326735 human ensembl 69_37n -1 known nonsense c.2422 p.Q808* 0.864 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_unknown-pump-sp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_unknown-pump-sp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP13A2 HGNC ENSG00000159363 42 0 0.00 47 19 28.36 - - - B3GNT2 0 genome.wustl.edu 37 2 62450052 62450052 + Missense_Mutation SNP A A T TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 2 62450052 62450052 A T SNP B3GNT2 ENST00000301998 human ensembl 69_37n +1 known missense c.697 p.T233S 0.986 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GNT2 HGNC ENSG00000170340 245 1 0.39 132 62 31.63 - - - BACH2 0 genome.wustl.edu 37 6 90660211 90660211 + Silent SNP G G A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 6 90660211 90660211 G A SNP BACH2 ENST00000257749 human ensembl 69_37n -1 known silent c.1614 p.C538 1.000 NULL pfam_BTB_POZ,pfam_bZIP_1,pfam_bZIP_2,superfamily_BTB/POZ_fold,superfamily_Euk_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 135 0 0.00 82 37 31.09 - - - BCMO1 0 genome.wustl.edu 37 16 81303899 81303899 + Missense_Mutation SNP G G A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 16 81303899 81303899 G A SNP BCMO1 ENST00000258168 human ensembl 69_37n +1 known missense c.979 p.E327K 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCMO1 HGNC ENSG00000135697 163 0 0.00 49 46 47.92 - - - C2orf43 0 genome.wustl.edu 37 2 20886840 20886842 + In_Frame_Del DEL ATA ATA - TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 ATA ATA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 2 20886840 20886842 ATA - DEL C2orf43 ENST00000237822 human ensembl 69_37n -1 known in_frame_del c.801_799 p.Y267in_frame_del 0.989:1.000:1.000 pfam_DUF2305 pfam_DUF2305 - no_errors C2orf43 HGNC ENSG00000118961 262 0 0.00 96 57 37.25 - - - C2orf72 0 genome.wustl.edu 37 2 231906087 231906087 + Silent SNP G G A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 2 231906087 231906087 G A SNP C2orf72 ENST00000373640 human ensembl 69_37n +1 putative silent c.711 p.K237 0.884 NULL NULL - no_errors C2orf72 HGNC ENSG00000204128 86 0 0.00 41 28 40.58 - - - CAPN1 0 genome.wustl.edu 37 11 64972292 64972292 + Missense_Mutation SNP G G A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 11 64972292 64972292 G A SNP CAPN1 ENST00000279247 human ensembl 69_37n +1 known missense c.1304 p.G435D 1.000 pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN1 HGNC ENSG00000014216 14 0 0.00 12 5 29.41 - - - CENPE 0 genome.wustl.edu 37 4 104066383 104066383 + Missense_Mutation SNP C C T TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 4 104066383 104066383 C T SNP CENPE ENST00000265148 human ensembl 69_37n -1 known missense c.4681 p.D1561N 0.003 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 768 0 0.00 376 107 22.15 - - - CEP120 0 genome.wustl.edu 37 5 122729131 122729131 + Missense_Mutation SNP A A C TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 5 122729131 122729131 A C SNP CEP120 ENST00000306467 human ensembl 69_37n -1 known missense c.673 p.L225V 0.999 NULL pfam_DUF3668,superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors CEP120 HGNC ENSG00000168944 458 0 0.00 234 93 28.44 - - - CPNE5 0 genome.wustl.edu 37 6 36710076 36710076 + Missense_Mutation SNP G G C TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 6 36710076 36710076 G C SNP CPNE5 ENST00000244751 human ensembl 69_37n -1 known missense c.1751 p.P584R 0.958 NULL pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting,pfscan_VWF_A - no_errors CPNE5 HGNC ENSG00000124772 32 0 0.00 22 23 51.11 - - - CPT1C 0 genome.wustl.edu 37 19 50195607 50195607 + Missense_Mutation SNP T T A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 19 50195607 50195607 T A SNP CPT1C ENST00000323446 human ensembl 69_37n +1 known missense c.98 p.L33H 0.999 NULL pfam_Carn_acyl_trans - no_errors CPT1C HGNC ENSG00000169169 93 0 0.00 60 29 32.58 - - - CRYBG3 0 genome.wustl.edu 37 3 97614826 97614826 + Missense_Mutation SNP A A G TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 3 97614826 97614826 A G SNP CRYBG3 ENST00000182096 human ensembl 69_37n +1 known missense c.1754 p.H585R 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 639 0 0.00 280 126 30.96 - - - CTTNBP2NL 0 genome.wustl.edu 37 1 112997128 112997130 + In_Frame_Del DEL GAT GAT - TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 GAT GAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 1 112997128 112997130 GAT - DEL CTTNBP2NL ENST00000271277 human ensembl 69_37n +1 known in_frame_del c.388_390 p.D131in_frame_del 1.000:1.000:1.000 pfam_Cortactin-binding_p2_N pfam_Cortactin-binding_p2_N - no_errors CTTNBP2NL HGNC ENSG00000143079 159 0 0.00 89 32 26.45 - - - CYP4Z2P 0 genome.wustl.edu 37 1 47333672 47333672 + RNA SNP C C G TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 1 47333672 47333672 C G SNP CYP4Z2P ENST00000505841 human ensembl 69_37n -1 known rna NULL NULL 0.944 - - - no_errors CYP4Z2P HGNC ENSG00000154198 219 0 0.00 101 59 36.88 - - - DMD 0 genome.wustl.edu 37 X 32328199 32328199 + Silent SNP C C T TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 X 32328199 32328199 C T SNP DMD ENST00000357033 human ensembl 69_37n -1 known silent c.6117 p.K2039 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 110 1 0.90 38 57 60.00 - - - DNAH7 0 genome.wustl.edu 37 2 196749335 196749335 + Missense_Mutation SNP T T C TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 2 196749335 196749335 T C SNP DNAH7 ENST00000312428 human ensembl 69_37n -1 known missense c.5737 p.I1913V 0.968 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 286 1 0.35 111 86 43.65 - - - DPY19L1 0 genome.wustl.edu 37 7 35057529 35057529 + Missense_Mutation SNP T T A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 7 35057529 35057529 T A SNP DPY19L1 ENST00000310974 human ensembl 69_37n -1 known missense c.157 p.T53S 0.909 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L1 HGNC ENSG00000173852 400 0 0.00 253 83 24.70 - - - DYTN 0 genome.wustl.edu 37 2 207530636 207530636 + Missense_Mutation SNP A A C TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 2 207530636 207530636 A C SNP DYTN ENST00000452335 human ensembl 69_37n -1 known missense c.1098 p.D366E 0.000 NULL pfam_EF-hand_dom_typ2,pfam_EF-hand_dom_typ1,pfam_Znf_ZZ,smart_Znf_ZZ,pfscan_Znf_ZZ - no_errors DYTN HGNC ENSG00000232125 889 1 0.11 466 218 31.87 - - - ELK1 0 genome.wustl.edu 37 X 47498688 47498688 + Missense_Mutation SNP G G C TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 X 47498688 47498688 G C SNP ELK1 ENST00000247161 human ensembl 69_37n -1 known missense c.260 p.S87C 1.000 pfam_Ets,smart_Ets pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ELK1 HGNC ENSG00000126767 30 0 0.00 39 5 11.36 - - - ENAM 0 genome.wustl.edu 37 4 71510070 71510070 + Missense_Mutation SNP G G C TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 4 71510070 71510070 G C SNP ENAM ENST00000396073 human ensembl 69_37n +1 known missense c.2927 p.S976T 0.538 NULL NULL - no_errors ENAM HGNC ENSG00000132464 245 0 0.00 121 76 38.58 - - - FADS2 0 genome.wustl.edu 37 11 61624993 61624993 + Missense_Mutation SNP G G C TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 11 61624993 61624993 G C SNP FADS2 ENST00000278840 human ensembl 69_37n +1 known missense c.873 p.K291N 0.005 pfam_Fatty_acid_desaturase-1,pirsf_Fatty_acid/sphinglp_desaturase pfam_Fatty_acid_desaturase-1,pfam_Cyt_B5,superfamily_Cyt_B5,pirsf_Fatty_acid/sphinglp_desaturase,pfscan_Cyt_B5 - no_errors FADS2 HGNC ENSG00000134824 291 0 0.00 155 76 32.90 - - - FBRSL1 0 genome.wustl.edu 37 12 133158042 133158042 + Missense_Mutation SNP T T A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 12 133158042 133158042 T A SNP FBRSL1 ENST00000434748 human ensembl 69_37n +1 known missense c.1981 p.S661T 0.059 prints_AUTS2 prints_AUTS2 - no_errors FBRSL1 HGNC ENSG00000112787 38 0 0.00 35 21 37.50 - - - FGFR2 0 genome.wustl.edu 37 10 123263332 123263332 + Missense_Mutation SNP C C A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 10 123263332 123263332 C A SNP FGFR2 ENST00000457416 human ensembl 69_37n -1 known missense c.1414 p.D472Y 1.000 pirsf_Tyr_kinase_fibroblast_GF_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR2 HGNC ENSG00000066468 264 0 0.00 60 59 49.58 - - - FGFR2 0 genome.wustl.edu 37 10 123263333 123263333 + Missense_Mutation SNP C C A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 10 123263333 123263333 C A SNP FGFR2 ENST00000457416 human ensembl 69_37n -1 known missense c.1413 p.E471D 1.000 pirsf_Tyr_kinase_fibroblast_GF_rcpt,superfamily_Kinase-like_dom pirsf_Tyr_kinase_fibroblast_GF_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FGFR2 HGNC ENSG00000066468 264 0 0.00 59 60 50.42 - - - FHOD3 0 genome.wustl.edu 37 18 34289076 34289076 + Missense_Mutation SNP A A G TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 18 34289076 34289076 A G SNP FHOD3 ENST00000257209 human ensembl 69_37n +1 known missense c.1730 p.E577G 0.019 NULL pfam_FH2_actin-bd,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors FHOD3 HGNC ENSG00000134775 79 0 0.00 63 33 34.38 - - - GHR 0 genome.wustl.edu 37 5 42718684 42718684 + Missense_Mutation SNP G G A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 5 42718684 42718684 G A SNP GHR ENST00000230882 human ensembl 69_37n +1 known missense c.1075 p.E359K 0.998 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 235 2 0.84 115 61 34.66 - - - GOLGA6A 0 genome.wustl.edu 37 15 74367318 74367318 + Frame_Shift_Del DEL G G - TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 15 74367318 74367318 G - DEL GOLGA6A ENST00000290438 human ensembl 69_37n -1 known frame_shift_del c.872 p.P291fs 0.917 NULL NULL - no_errors GOLGA6A HGNC ENSG00000159289 227 0 0.00 172 95 35.32 - - - GRID1 0 genome.wustl.edu 37 10 87615835 87615835 + Missense_Mutation SNP G G C TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 10 87615835 87615835 G C SNP GRID1 ENST00000327946 human ensembl 69_37n -1 known missense c.1064 p.S355C 1.000 pfam_ANF_lig-bd_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID1 HGNC ENSG00000182771 270 0 0.00 164 84 33.87 - - - HEATR5B 0 genome.wustl.edu 37 2 37217922 37217922 + Missense_Mutation SNP C C G TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 2 37217922 37217922 C G SNP HEATR5B ENST00000233099 human ensembl 69_37n -1 known missense c.5566 p.D1856H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors HEATR5B HGNC ENSG00000008869 365 0 0.00 198 84 29.68 - - - HFE2 0 genome.wustl.edu 37 1 145415526 145415526 + Missense_Mutation SNP C C G TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 1 145415526 145415526 C G SNP HFE2 ENST00000336751 human ensembl 69_37n +1 known missense c.345 p.I115M 0.338 pfam_RGM_N pfam_RGM_N,pfam_RGM_C - no_errors HFE2 HGNC ENSG00000168509 8 0 0.00 15 6 28.57 - - - IGSF22 0 genome.wustl.edu 37 11 18727602 18727602 + Silent SNP C C T TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 11 18727602 18727602 C T SNP IGSF22 ENST00000513874 human ensembl 69_37n -1 known silent c.3672 p.V1224 0.308 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF22 HGNC ENSG00000179057 74 0 0.00 53 27 33.33 - - - INADL 0 genome.wustl.edu 37 1 62293244 62293244 + Frame_Shift_Del DEL C C - TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 1 62293244 62293244 C - DEL INADL ENST00000371158 human ensembl 69_37n +1 known frame_shift_del c.1969 p.P657fs 0.000 NULL pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 334 0 0.00 174 79 30.74 - - - ITGA10 0 genome.wustl.edu 37 1 145530313 145530313 + Silent SNP C C T TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 1 145530313 145530313 C T SNP ITGA10 ENST00000369304 human ensembl 69_37n +1 known silent c.528 p.N176 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A 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 ITGA10 HGNC ENSG00000143127 198 0 0.00 115 53 31.55 - - - KCNH7 0 genome.wustl.edu 37 2 163236470 163236470 + Frame_Shift_Del DEL A A - TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 2 163236470 163236470 A - DEL KCNH7 ENST00000332142 human ensembl 69_37n -1 known frame_shift_del c.3024 p.P1009fs 0.985 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,tigrfam_PAS - no_errors KCNH7 HGNC ENSG00000184611 346 0 0.00 160 76 31.28 - - - KIAA1199 0 genome.wustl.edu 37 15 81216988 81216988 + Silent SNP C C G TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 15 81216988 81216988 C G SNP KIAA1199 ENST00000220244 human ensembl 69_37n +1 known silent c.2229 p.V743 0.999 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 165 0 0.00 181 59 24.58 - - - KIAA1549L 0 genome.wustl.edu 37 11 33667477 33667477 + Silent SNP G G A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 11 33667477 33667477 G A SNP KIAA1549L ENST00000389726 human ensembl 69_37n +1 known silent c.4782 p.S1594 0.000 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 33 0 0.00 25 15 37.50 - - - KREMEN1 0 genome.wustl.edu 37 22 29534662 29534662 + Missense_Mutation SNP G G T TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 22 29534662 29534662 G T SNP KREMEN1 ENST00000327813 human ensembl 69_37n +1 known missense c.1015 p.A339S 0.686 pirsf_Kremen pirsf_Kremen,pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB,superfamily_Kringle-like,superfamily_CUB,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB,pfscan_CUB,pfscan_Kringle,pfscan_WSC_carb-bd - no_errors KREMEN1 HGNC ENSG00000183762 183 0 0.00 59 87 59.59 - - - KRTAP5-1 0 genome.wustl.edu 37 11 1606146 1606147 + In_Frame_Ins INS - - GCC TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 11 1606146 1606147 - GCC INS KRTAP5-1 ENST00000382171 human ensembl 69_37n -1 known in_frame_ins c.334_333 p.111in_frame_insG 0.458:0.354 NULL NULL - no_errors KRTAP5-1 HGNC ENSG00000205869 15 0 0.00 9 4 30.77 - - - LETM1 0 genome.wustl.edu 37 4 1836571 1836571 + Splice_Site SNP C C A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 4 1836571 1836571 C A SNP LETM1 ENST00000302787 human ensembl 69_37n -1 known splice_site c.876+1 e5+1 1.000 - - - no_errors LETM1 HGNC ENSG00000168924 124 0 0.00 85 44 33.85 - - - LRRC4B 0 genome.wustl.edu 37 19 51022417 51022417 + Silent SNP G G T TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 19 51022417 51022417 G T SNP LRRC4B ENST00000389201 human ensembl 69_37n -1 known silent c.553 p.R185 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,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 LRRC4B HGNC ENSG00000131409 64 0 0.00 62 27 30.34 - - - MAP2 0 genome.wustl.edu 37 2 210559282 210559282 + Silent SNP C C T TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 2 210559282 210559282 C T SNP MAP2 ENST00000360351 human ensembl 69_37n +1 known silent c.2388 p.Y796 1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 210 0 0.00 123 26 17.45 - - - MAS1 0 genome.wustl.edu 37 6 160328951 160328951 + Missense_Mutation SNP G G C TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 6 160328951 160328951 G C SNP MAS1 ENST00000252660 human ensembl 69_37n +1 known missense c.964 p.E322Q 1.000 prints_Mas_TM pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Mas_TM,prints_7TM_GPCR_Rhodpsn - no_errors MAS1 HGNC ENSG00000130368 64 0 0.00 37 37 50.00 - - - METTL23 0 genome.wustl.edu 37 17 74729124 74729124 + Nonsense_Mutation SNP C C G TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 17 74729124 74729124 C G SNP METTL23 ENST00000341249 human ensembl 69_37n +1 known nonsense c.149 p.S50* 0.999 pfam_Nicotinamide_N-MeTfrase-like pfam_Nicotinamide_N-MeTfrase-like - no_errors METTL23 HGNC ENSG00000181038 123 0 0.00 196 32 14.04 - - - MGAT5B 0 genome.wustl.edu 37 17 74934211 74934211 + Missense_Mutation SNP C C A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 17 74934211 74934211 C A SNP MGAT5B ENST00000428789 human ensembl 69_37n +1 known missense c.1597 p.L533M 1.000 NULL superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MGAT5B HGNC ENSG00000167889 62 0 0.00 125 24 16.11 - - - MYO18B 0 genome.wustl.edu 37 22 26299726 26299726 + Missense_Mutation SNP G G T TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 22 26299726 26299726 G T SNP MYO18B ENST00000335473 human ensembl 69_37n +1 known missense c.5076 p.K1692N 0.903 NULL pfam_Myosin_head_motor_dom,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 162 0 0.00 144 22 13.25 - - - NAV3 0 genome.wustl.edu 37 12 78542637 78542637 + Missense_Mutation SNP C C T TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 12 78542637 78542637 C T SNP NAV3 ENST00000397909 human ensembl 69_37n +1 known missense c.4723 p.R1575W 1.000 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 414 1 0.24 285 266 48.19 - - - NCAM2 0 genome.wustl.edu 37 21 22664443 22664443 + Silent SNP A A T TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 21 22664443 22664443 A T SNP NCAM2 ENST00000400546 human ensembl 69_37n +1 known silent c.501 p.A167 0.977 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 556 1 0.18 307 157 33.84 - - - NEO1 0 genome.wustl.edu 37 15 73409162 73409162 + Missense_Mutation SNP A A C TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 15 73409162 73409162 A C SNP NEO1 ENST00000261908 human ensembl 69_37n +1 known missense c.412 p.T138P 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors NEO1 HGNC ENSG00000067141 290 0 0.00 224 81 26.56 - - - NLRP12 0 genome.wustl.edu 37 19 54307284 54307284 + Missense_Mutation SNP C C T TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 19 54307284 54307284 C T SNP NLRP12 ENST00000391773 human ensembl 69_37n -1 known missense c.2510 p.G837E 0.001 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP12 HGNC ENSG00000142405 206 0 0.00 124 71 36.41 - - - OLFML2B 0 genome.wustl.edu 37 1 161953515 161953515 + Missense_Mutation SNP C C G TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 1 161953515 161953515 C G SNP OLFML2B ENST00000294794 human ensembl 69_37n -1 known missense c.2203 p.A735P 1.000 pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_NA-bd_OB-fold-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 503 1 0.20 321 165 33.88 - - - OR2B6 0 genome.wustl.edu 37 6 27925573 27925573 + Silent SNP C C G TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 6 27925573 27925573 C G SNP OR2B6 ENST00000244623 human ensembl 69_37n +1 known silent c.555 p.L185 0.936 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2B6 HGNC ENSG00000124657 403 0 0.00 177 98 35.64 - - - OR2T34 0 genome.wustl.edu 37 1 248737334 248737334 + Missense_Mutation SNP G G T TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 1 248737334 248737334 G T SNP OR2T34 ENST00000328782 human ensembl 69_37n -1 known missense c.725 p.A242D 0.999 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 OR2T34 HGNC ENSG00000183310 320 2 0.62 189 99 34.26 - - - OR7D4 0 genome.wustl.edu 37 19 9324875 9324876 + Frame_Shift_Del DEL CC CC - TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 CC CC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 19 9324875 9324876 CC - DEL OR7D4 ENST00000308682 human ensembl 69_37n -1 known frame_shift_del c.639_638 p.G213fs 0.726:0.720 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR7D4 HGNC ENSG00000174667 101 0 0.00 62 27 30.00 - - - PAGE1 0 genome.wustl.edu 37 X 49454099 49454099 + Missense_Mutation SNP C C G TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 X 49454099 49454099 C G SNP PAGE1 ENST00000376150 human ensembl 69_37n -1 known missense c.340 p.G114R 0.006 pfam_GAGE pfam_GAGE - no_errors PAGE1 HGNC ENSG00000068985 64 0 0.00 17 20 54.05 - - - PATL2 0 genome.wustl.edu 37 15 44962197 44962197 + Missense_Mutation SNP G G A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 15 44962197 44962197 G A SNP PATL2 ENST00000434130 human ensembl 69_37n -1 known missense c.746 p.P249L 1.000 NULL pfam_Topo_II-assoc_PAT1 - no_errors PATL2 HGNC ENSG00000229474 314 0 0.00 156 104 40.00 - - - PCNT 0 genome.wustl.edu 37 21 47783719 47783719 + Missense_Mutation SNP G G A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 21 47783719 47783719 G A SNP PCNT ENST00000359568 human ensembl 69_37n +1 known missense c.2479 p.D827N 0.003 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 24 0 0.00 12 6 33.33 - - - PDGFRL 0 genome.wustl.edu 37 8 17486008 17486008 + Missense_Mutation SNP T T C TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 8 17486008 17486008 T C SNP PDGFRL ENST00000251630 human ensembl 69_37n +1 known missense c.518 p.L173P 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors PDGFRL HGNC ENSG00000104213 192 0 0.00 37 55 59.78 - - - PLCE1 0 genome.wustl.edu 37 10 96058171 96058171 + Missense_Mutation SNP T T A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 10 96058171 96058171 T A SNP PLCE1 ENST00000371380 human ensembl 69_37n +1 known missense c.5203 p.S1735T 0.000 superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 200 0 0.00 61 61 50.00 - - - PPP2R3A 0 genome.wustl.edu 37 3 135721060 135721060 + Silent SNP C C A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 3 135721060 135721060 C A SNP PPP2R3A ENST00000264977 human ensembl 69_37n +1 known silent c.720 p.S240 0.976 NULL pfscan_EF_HAND_2 - no_errors PPP2R3A HGNC ENSG00000073711 126 0 0.00 44 34 43.59 - - - PPP2R3A 0 genome.wustl.edu 37 3 135745705 135745705 + Missense_Mutation SNP C C T TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 3 135745705 135745705 C T SNP PPP2R3A ENST00000264977 human ensembl 69_37n +1 known missense c.2027 p.T676I 1.000 NULL pfscan_EF_HAND_2 - no_errors PPP2R3A HGNC ENSG00000073711 143 0 0.00 79 42 34.71 - - - PREX2 0 genome.wustl.edu 37 8 69002851 69002851 + Silent SNP G G A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 8 69002851 69002851 G A SNP PREX2 ENST00000288368 human ensembl 69_37n +1 known silent c.2151 p.Q717 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 182 0 0.00 186 37 16.59 - - - RELN 0 genome.wustl.edu 37 7 103183270 103183270 + Missense_Mutation SNP C C G TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 7 103183270 103183270 C G SNP RELN ENST00000424685 human ensembl 69_37n -1 known missense c.6579 p.K2193N 0.987 superfamily_Neuraminidase pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Neuraminidase,superfamily_Growth_fac_rcpt,smart_EGF-like,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 263 0 0.00 131 59 31.05 - - - RGAG4 0 genome.wustl.edu 37 X 71351178 71351178 + Missense_Mutation SNP G G C TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 X 71351178 71351178 G C SNP RGAG4 ENST00000479991 human ensembl 69_37n -1 known missense c.213 p.F71L 0.999 NULL pfam_Retrotrans_gag - no_errors RGAG4 HGNC ENSG00000242732 16 0 0.00 9 14 60.87 - - - RYR1 0 genome.wustl.edu 37 19 38990591 38990591 + Missense_Mutation SNP C C A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 19 38990591 38990591 C A SNP RYR1 ENST00000359596 human ensembl 69_37n +1 known missense c.7258 p.H2420N 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 135 1 0.74 92 55 37.41 - - - SATB1 0 genome.wustl.edu 37 3 18458465 18458465 + Missense_Mutation SNP A A T TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 3 18458465 18458465 A T SNP SATB1 ENST00000338745 human ensembl 69_37n -1 known missense c.317 p.L106H 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 288 0 0.00 161 106 39.70 - - - SLC24A6 0 genome.wustl.edu 37 12 113753164 113753164 + Frame_Shift_Del DEL C C - TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 12 113753164 113753164 C - DEL SLC24A6 ENST00000202831 human ensembl 69_37n -1 known frame_shift_del c.1111 p.V371fs 1.000 NULL pfam_NaCa_Exmemb - no_errors SLC24A6 HGNC ENSG00000089060 111 0 0.00 61 31 33.70 - - - SORD 0 genome.wustl.edu 37 15 45335550 45335550 + Missense_Mutation SNP A A G TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 15 45335550 45335550 A G SNP SORD ENST00000267814 human ensembl 69_37n +1 known missense c.196 p.M66V 1.000 pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors SORD HGNC ENSG00000140263 65 0 0.00 36 13 26.53 - - - SOS1 0 genome.wustl.edu 37 2 39249723 39249723 + Missense_Mutation SNP G G A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 2 39249723 39249723 G A SNP SOS1 ENST00000402219 human ensembl 69_37n -1 known missense c.1846 p.H616Y 1.000 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,pfscan_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors SOS1 HGNC ENSG00000115904 158 0 0.00 70 37 34.58 - - - SPECC1L 0 genome.wustl.edu 37 22 24765272 24765272 + Missense_Mutation SNP A A C TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 22 24765272 24765272 A C SNP SPECC1L ENST00000314328 human ensembl 69_37n +1 known missense c.3071 p.K1024T 1.000 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_HLH_DNA-bd,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 304 1 0.33 156 66 29.73 - - - SULT1C4 0 genome.wustl.edu 37 2 108998294 108998294 + Silent SNP T T C TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 2 108998294 108998294 T C SNP SULT1C4 ENST00000272452 human ensembl 69_37n +1 known silent c.246 p.T82 0.010 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1C4 HGNC ENSG00000198075 279 0 0.00 137 50 26.74 - - - SUMO1 0 genome.wustl.edu 37 2 203084812 203084812 + Nonstop_Mutation SNP A A C TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 2 203084812 203084812 A C SNP SUMO1 ENST00000409627 human ensembl 69_37n -1 known nonstop c.220 p.*74G 0.998 NULL NULL - no_errors SUMO1 HGNC ENSG00000116030 511 0 0.00 218 101 31.56 - - - TMEM39A 0 genome.wustl.edu 37 3 119153657 119153657 + Frame_Shift_Del DEL C C - TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 3 119153657 119153657 C - DEL TMEM39A ENST00000319172 human ensembl 69_37n -1 known frame_shift_del c.1185 p.P396fs 0.826 pfam_Uncharacterised_TMEM39 pfam_Uncharacterised_TMEM39 - no_errors TMEM39A HGNC ENSG00000176142 275 0 0.00 179 50 21.74 - - - TNRC6A 0 genome.wustl.edu 37 16 24817933 24817933 + Missense_Mutation SNP A A G TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 16 24817933 24817933 A G SNP TNRC6A ENST00000568750 human ensembl 69_37n +1 novel missense c.467 p.N156S 0.961 NULL NULL - no_start_codon:pseudogene:no_stop_codon TNRC6A HGNC ENSG00000090905 395 0 0.00 186 212 53.27 - - - TNS1 0 genome.wustl.edu 37 2 218686502 218686502 + Missense_Mutation SNP C C T TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 2 218686502 218686502 C T SNP TNS1 ENST00000171887 human ensembl 69_37n -1 known missense c.3221 p.S1074N 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,smart_SH2,smart_PTyr_interaction_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 38 0 0.00 18 6 25.00 - - - TRABD2A 0 genome.wustl.edu 37 2 85066288 85066288 + Missense_Mutation SNP A A T TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 2 85066288 85066288 A T SNP TRABD2A ENST00000409520 human ensembl 69_37n -1 known missense c.976 p.F326I 1.000 NULL NULL - no_errors TRABD2A HGNC ENSG00000186854 218 0 0.00 134 51 27.57 - - - TTN 0 genome.wustl.edu 37 2 179613021 179613021 + Frame_Shift_Del DEL T T - TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 2 179613021 179613021 T - DEL TTN ENST00000360870 human ensembl 69_37n -1 known frame_shift_del c.14106 p.E4703fs 0.006 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Titin_Z,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 219 0 0.00 96 51 34.23 - - - TYMP 0 genome.wustl.edu 37 22 50967953 50967953 + Silent SNP C C T TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 22 50967953 50967953 C T SNP TYMP ENST00000252029 human ensembl 69_37n -1 known silent c.186 p.V62 0.426 pfam_Glycosyl_Trfase_fam3_N_dom,superfamily_Glycosyl_Trfase_fam3_N_dom,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk pfam_Glycosyl_Trfase_fam3,pfam_Glycosyl_Trfase_fam3_N_dom,pfam_PYNP_C,superfamily_Glycosyl_Trfase_fam3,superfamily_PYNP_C,superfamily_Glycosyl_Trfase_fam3_N_dom,smart_PYNP_C,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk - no_errors TYMP HGNC ENSG00000025708 33 0 0.00 12 11 47.83 - - - UTP20 0 genome.wustl.edu 37 12 101705565 101705565 + Missense_Mutation SNP C C A TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 12 101705565 101705565 C A SNP UTP20 ENST00000261637 human ensembl 69_37n +1 known missense c.2300 p.A767D 0.992 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 294 0 0.00 143 75 34.40 - - - VCX 0 genome.wustl.edu 37 X 7812007 7812007 + Missense_Mutation SNP G G C TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 X 7812007 7812007 G C SNP VCX ENST00000381059 human ensembl 69_37n +1 known missense c.571 p.E191Q 0.429 NULL NULL - no_errors VCX HGNC ENSG00000182583 202 0 0.00 137 65 32.18 - - - VCX3A 0 genome.wustl.edu 37 X 6451836 6451836 + Missense_Mutation SNP C C G TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 X 6451836 6451836 C G SNP VCX3A ENST00000381089 human ensembl 69_37n -1 known missense c.511 p.E171Q 0.129 NULL NULL - no_errors VCX3A HGNC ENSG00000169059 304 0 0.00 171 118 40.83 - - - WDR49 0 genome.wustl.edu 37 3 167320043 167320043 + Missense_Mutation SNP T T G TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 3 167320043 167320043 T G SNP WDR49 ENST00000308378 human ensembl 69_37n -1 known missense c.124 p.K42Q 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR49 HGNC ENSG00000174776 166 0 0.00 100 29 22.48 - - - ZFYVE16 0 genome.wustl.edu 37 5 79743961 79743961 + Frame_Shift_Del DEL G G - TCGA-E2-A14W-01A-11D-A12B-09 TCGA-E2-A14W-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fbdc8659-e9cc-483f-bd0a-1a24b5ada1cf 7dfbdd33-5e89-45ef-a636-fe72cc25f3b9 5 79743961 79743961 G - DEL ZFYVE16 ENST00000338008 human ensembl 69_37n +1 known frame_shift_del c.2841 p.E948fs 0.792 pirsf_Znf_FYVE_SARA/endofin pfam_DUF3480,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE16 HGNC ENSG00000039319 340 0 0.00 166 87 33.85 - - -