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 ACOT11 0 genome.wustl.edu 37 1 55059671 55059671 + Missense_Mutation SNP A A G TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 1 55059671 55059671 A G SNP ACOT11 ENST00000371316 human ensembl 69_37n +1 known missense c.430 p.K144E 1.000 NULL pfam_START_lipid-bd,pfam_Thioestr_supf,smart_START_lipid-bd,pfscan_START_lipid-bd - no_errors ACOT11 HGNC ENSG00000162390 10 0 0.00 20 10 33.33 - - - ATG2A 0 genome.wustl.edu 37 11 64665325 64665325 + Missense_Mutation SNP C C T TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 11 64665325 64665325 C T SNP ATG2A ENST00000418259 human ensembl 69_37n -1 novel missense c.4390 p.A1464T 1.000 NULL pfam_Autophagy-rel_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATG2A HGNC ENSG00000110046 9 0 0.00 4 5 55.56 - - - ATHL1 0 genome.wustl.edu 37 11 293153 293153 + Missense_Mutation SNP G G T TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 11 293153 293153 G T SNP ATHL1 ENST00000409479 human ensembl 69_37n +1 novel missense c.1342 p.V448L 0.000 superfamily_6-hairpin_glycosidase-like pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like - no_errors ATHL1 HGNC ENSG00000142102 35 0 0.00 14 20 58.82 - - - BMP15 0 genome.wustl.edu 37 X 50659109 50659109 + Missense_Mutation SNP G G C TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 X 50659109 50659109 G C SNP BMP15 ENST00000252677 human ensembl 69_37n +1 known missense c.681 p.L227F 0.004 NULL pfam_TGF-b_C,smart_TGF-b_C,prints_Inhibin_asu - no_errors BMP15 HGNC ENSG00000130385 75 0 0.00 64 43 40.19 - - - CASP8AP2 0 genome.wustl.edu 37 6 90564540 90564540 + RNA SNP C C T TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 6 90564540 90564540 C T SNP CASP8AP2 ENST00000237177 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CASP8AP2 HGNC ENSG00000118412 133 0 0.00 119 44 26.99 - - - CCDC144A 0 genome.wustl.edu 37 17 16638032 16638032 + Missense_Mutation SNP A A T TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 17 16638032 16638032 A T SNP CCDC144A ENST00000360524 human ensembl 69_37n +1 known missense c.2447 p.D816V 1.000 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 63 0 0.00 20 33 62.26 - - - CCDC168 0 genome.wustl.edu 37 13 103386196 103386196 + Silent SNP C C T TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 13 103386196 103386196 C T SNP CCDC168 ENST00000322527 human ensembl 69_37n -1 known silent c.2964 p.V988 0.000 NULL NULL - no_errors CCDC168 HGNC ENSG00000175820 56 0 0.00 27 11 28.95 - - - CENPF 0 genome.wustl.edu 37 1 214818057 214818057 + Missense_Mutation SNP T T C TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 1 214818057 214818057 T C SNP CENPF ENST00000366955 human ensembl 69_37n +1 known missense c.5144 p.V1715A 0.000 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_Centromere_CenpF_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 62 0 0.00 66 21 24.14 - - - COL24A1 0 genome.wustl.edu 37 1 86430711 86430711 + Missense_Mutation SNP G G A TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 1 86430711 86430711 G A SNP COL24A1 ENST00000370571 human ensembl 69_37n -1 known missense c.2498 p.P833L 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 228 1 0.43 155 96 37.94 - - - DIAPH2 0 genome.wustl.edu 37 X 95993750 95993751 + Frame_Shift_Ins INS - - A TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 X 95993750 95993751 - A INS DIAPH2 ENST00000324765 human ensembl 69_37n +1 known frame_shift_ins c.331_332 p.M113fs 1.000:1.000 pfam_Drf_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH2 HGNC ENSG00000147202 174 0 0.00 129 38 22.75 - - - DNAH3 0 genome.wustl.edu 37 16 20996971 20996971 + Missense_Mutation SNP C C T TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 16 20996971 20996971 C T SNP DNAH3 ENST00000261383 human ensembl 69_37n -1 known missense c.7093 p.D2365N 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 53 0 0.00 35 23 39.66 - - - DOCK10 0 genome.wustl.edu 37 2 225651833 225651833 + Missense_Mutation SNP T T C TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 2 225651833 225651833 T C SNP DOCK10 ENST00000258390 human ensembl 69_37n -1 known missense c.5561 p.Y1854C 0.999 superfamily_ARM-type_fold pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 88 0 0.00 80 46 35.94 - - - DSG1 0 genome.wustl.edu 37 18 28926019 28926019 + Missense_Mutation SNP G G C TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 18 28926019 28926019 G C SNP DSG1 ENST00000257192 human ensembl 69_37n +1 known missense c.1958 p.G653A 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Desmoglein,prints_Cadherin,prints_Desmo_cadherin,pfscan_Cadherin - no_errors DSG1 HGNC ENSG00000134760 209 0 0.00 142 89 38.03 - - - EGFR 0 genome.wustl.edu 37 7 55221773 55221773 + Missense_Mutation SNP A A G TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 7 55221773 55221773 A G SNP EGFR ENST00000275493 human ensembl 69_37n +1 known missense c.817 p.T273A 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors EGFR HGNC ENSG00000146648 46 0 0.00 42 20 32.26 - - - ERBB4 0 genome.wustl.edu 37 2 212289007 212289007 + Silent SNP C C T TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 2 212289007 212289007 C T SNP ERBB4 ENST00000342788 human ensembl 69_37n -1 known silent c.2739 p.L913 0.998 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB4 HGNC ENSG00000178568 177 0 0.00 126 63 33.33 - - - FAM73A 0 genome.wustl.edu 37 1 78338700 78338701 + Frame_Shift_Ins INS - - T TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 1 78338700 78338701 - T INS FAM73A ENST00000370791 human ensembl 69_37n +1 known frame_shift_ins c.1575_1576 p.A527fs 1.000:1.000 pfam_DUF2217 pfam_DUF2217 - no_errors FAM73A HGNC ENSG00000180488 346 0 0.00 318 123 27.89 - - - GLI3 0 genome.wustl.edu 37 7 42084998 42084998 + Missense_Mutation SNP G G A TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 7 42084998 42084998 G A SNP GLI3 ENST00000395925 human ensembl 69_37n -1 known missense c.811 p.L271F 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 16 0 0.00 55 27 32.93 - - - GLI3 0 genome.wustl.edu 37 7 42085091 42085091 + Nonsense_Mutation SNP G G A TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 7 42085091 42085091 G A SNP GLI3 ENST00000395925 human ensembl 69_37n -1 known nonsense c.718 p.Q240* 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 20 0 0.00 51 32 38.55 - - - INTS4L2 0 genome.wustl.edu 37 7 65159983 65159983 + RNA SNP A A G TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 7 65159983 65159983 A G SNP INTS4L2 ENST00000430126 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors INTS4L2 HGNC ENSG00000232270 18 0 0.00 14 6 30.00 - - - KCNJ12 0 genome.wustl.edu 37 17 21319007 21319007 + Missense_Mutation SNP G G A TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 17 21319007 21319007 G A SNP KCNJ12 ENST00000331718 human ensembl 69_37n +1 known missense c.353 p.R118Q 0.000 pfam_K_chnl_inward-rec_Kir_Cr2,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 pfam_K_chnl_inward-rec_Kir_Cr2,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir_Cr2,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 11 0 0.00 12 8 40.00 - - - KIAA0430 0 genome.wustl.edu 37 16 15718667 15718667 + Silent SNP C C T TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 16 15718667 15718667 C T SNP KIAA0430 ENST00000396368 human ensembl 69_37n -1 known silent c.2229 p.R743 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 71 0 0.00 70 25 26.32 - - - KIAA1045 0 genome.wustl.edu 37 9 34978067 34978067 + Missense_Mutation SNP C C T TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 9 34978067 34978067 C T SNP KIAA1045 ENST00000242315 human ensembl 69_37n +1 known missense c.1162 p.R388C 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors KIAA1045 HGNC ENSG00000122733 33 0 0.00 29 21 42.00 - - - KIAA1432 0 genome.wustl.edu 37 9 5774097 5774097 + Missense_Mutation SNP G G C TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 9 5774097 5774097 G C SNP KIAA1432 ENST00000418622 human ensembl 69_37n +1 known missense c.3886 p.E1296Q 1.000 NULL pfam_Ribosome_control_1,superfamily_WD40_repeat_dom - no_errors KIAA1432 HGNC ENSG00000107036 38 0 0.00 39 15 27.78 - - - KIF2B 0 genome.wustl.edu 37 17 51900732 51900732 + Missense_Mutation SNP C C T TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 17 51900732 51900732 C T SNP KIF2B ENST00000268919 human ensembl 69_37n +1 known missense c.338 p.T113M 0.003 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 21 0 0.00 14 11 42.31 - - - MCMBP 0 genome.wustl.edu 37 10 121591004 121591005 + Frame_Shift_Del DEL CA CA - TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 10 121591004 121591005 CA - DEL MCMBP ENST00000360003 human ensembl 69_37n -1 known frame_shift_del c.1911_1910 p.V637fs 0.991:1.000 NULL pfam_MCM_complex-bd - no_errors MCMBP HGNC ENSG00000197771 124 0 0.00 120 31 20.39 - - - MTAP 0 genome.wustl.edu 37 9 21818104 21818104 + Missense_Mutation SNP G G A TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 9 21818104 21818104 G A SNP MTAP ENST00000380172 human ensembl 69_37n +1 known missense c.250 p.E84K 1.000 pfam_Nucleoside_phosphorylase_d,tigrfam_MeThioAdo_phosphorylase pfam_Nucleoside_phosphorylase_d,tigrfam_MeThioAdo_phosphorylase - no_errors MTAP HGNC ENSG00000099810 43 0 0.00 44 29 39.73 - - - MTOR 0 genome.wustl.edu 37 1 11317205 11317205 + Nonsense_Mutation SNP C C A TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 1 11317205 11317205 C A SNP MTOR ENST00000361445 human ensembl 69_37n -1 known nonsense c.289 p.E97* 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_FKBP_rapamycin-assoc_FKBP12-bd,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_FKBP_rapamycin-assoc_FKBP12-bd,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 29 0 0.00 31 16 34.04 - - - MUC20 0 genome.wustl.edu 37 3 195452689 195452689 + Silent SNP C C T TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 3 195452689 195452689 C T SNP MUC20 ENST00000447234 human ensembl 69_37n +1 known silent c.1215 p.D405 0.000 NULL NULL - no_errors MUC20 HGNC ENSG00000176945 9 0 0.00 6 8 57.14 - - - MUC4 0 genome.wustl.edu 37 3 195507020 195507020 + Missense_Mutation SNP C C G TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 3 195507020 195507020 C G SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.11431 p.V3811L 0.834 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 39 0 0.00 93 11 10.48 - - - NECAB1 0 genome.wustl.edu 37 8 91937790 91937790 + Silent SNP G G A TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 8 91937790 91937790 G A SNP NECAB1 ENST00000417640 human ensembl 69_37n +1 known silent c.522 p.L174 0.998 NULL pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors NECAB1 HGNC ENSG00000123119 42 0 0.00 37 63 63.00 - - - OR1L4 0 genome.wustl.edu 37 9 125486770 125486770 + Missense_Mutation SNP T T C TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 9 125486770 125486770 T C SNP OR1L4 ENST00000259466 human ensembl 69_37n +1 known missense c.502 p.S168P 0.972 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR1L4 HGNC ENSG00000136939 69 0 0.00 67 43 39.09 - - - PTEN 0 genome.wustl.edu 37 10 89653842 89653842 + Frame_Shift_Del DEL G G - TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 10 89653842 89653842 G - DEL PTEN ENST00000371953 human ensembl 69_37n +1 known frame_shift_del c.140 p.N48fs 1.000 smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 293 0 0.00 120 112 47.26 - - - WDR60 0 genome.wustl.edu 37 7 158716295 158716295 + Missense_Mutation SNP T T C TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 7 158716295 158716295 T C SNP WDR60 ENST00000407559 human ensembl 69_37n +1 known missense c.2128 p.F710L 0.978 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 74 0 0.00 69 32 31.68 - - - ZNF131 0 genome.wustl.edu 37 5 43161509 43161509 + Missense_Mutation SNP T T C TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 5 43161509 43161509 T C SNP ZNF131 ENST00000399534 human ensembl 69_37n +1 known missense c.530 p.I177T 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF131 HGNC ENSG00000172262 107 0 0.00 85 43 33.33 - - - ZNF329 0 genome.wustl.edu 37 19 58639594 58639594 + Missense_Mutation SNP G G A TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 19 58639594 58639594 G A SNP ZNF329 ENST00000358067 human ensembl 69_37n -1 known missense c.1277 p.P426L 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF329 HGNC ENSG00000181894 44 0 0.00 54 68 55.74 - - - ZNF705G 0 genome.wustl.edu 37 8 7217220 7217220 + Missense_Mutation SNP C C A TCGA-AO-A12G-01A-11D-A10M-09 TCGA-AO-A12G-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 5b9d3741-2aa3-489b-93e6-3b5376b80d48 8da3bacc-e61b-431b-a25f-d70d4c8dbe23 8 7217220 7217220 C A SNP ZNF705G ENST00000400078 human ensembl 69_37n -1 known missense c.239 p.R80M 0.890 NULL 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 ZNF705G HGNC ENSG00000215372 452 0 0.00 178 187 51.23 - - -