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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error ASMTL 8623 genome.wustl.edu 36 X 1506842 1506842 + Missense_Mutation SNP A G G novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d X 1506842 1506842 A G SNP ASMTL NM_004192 human genbank 54_36p -1 validated missense c.682 p.S228P 0.995 HMMPfam_Maf "superfamily_Maf/Ham1,HMMPfam_Maf,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Methyltransf_2,superfamily_S-adenosyl-L-methionine-dependent methyltransferases" - no_errors LOC390033 390033 genome.wustl.edu 36 11 4316532 4316532 + Silent SNP T T C novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 11 4316532 4316532 T C SNP LOC390033 XM_372345 human genbank 54_36p -1 model silent c.519 p.E173 0.680 HMMPfam_Ssu72 HMMPfam_Ssu72 - pseudogene TP53 7157 genome.wustl.edu 36 17 7518915 7518915 + Missense_Mutation SNP T C C novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 17 7518915 7518915 T C SNP TP53 NM_000546 human genbank 54_36p -1 reviewed missense c.659 p.Y220C 1.000 HMMPfam_P53,superfamily_p53-like transcription factors HMMPfam_P53_TAD,HMMPfam_P53,superfamily_p53-like transcription factors,PatternScan_P53,HMMPfam_P53_tetramer,superfamily_p53 tetramerization domain - no_errors MUC16 94025 genome.wustl.edu 36 19 8950322 8950322 + Silent SNP C C T novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 19 8950322 8950322 C T SNP MUC16 NM_024690 human genbank 54_36p -1 validated silent c.2493 p.S831 0.003 NULL PatternScan_ATPASE_ALPHA_BETA,superfamily_SEA domain,HMMSmart_SM00200,HMMPfam_SEA - no_errors KLF1 10661 genome.wustl.edu 36 19 12856856 12856856 + Missense_Mutation SNP C C T novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 19 12856856 12856856 C T SNP KLF1 NM_006563 human genbank 54_36p -1 validated missense c.932 p.C311Y 1.000 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors OR11H7 0 genome.wustl.edu 36 14 19768030 19768030 + Silent SNP C C A novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 14 19768030 19768030 C A SNP OR11H7 ENST00000315508 human ensembl 54_36p +1 known silent c.630 p.T210 0.007 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1 superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors MAS1L 116511 genome.wustl.edu 36 6 29562555 29562555 + Silent SNP A T T novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 6 29562555 29562555 A T SNP MAS1L NM_052967 human genbank 54_36p -1 provisional silent c.1104 p.L368 0.000 NULL superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors TM9SF4 9777 genome.wustl.edu 36 20 30184573 30184573 + Missense_Mutation SNP G G A novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 20 30184573 30184573 G A SNP TM9SF4 NM_014742 human genbank 54_36p +1 validated missense c.61 p.D21N 0.997 NULL HMMPfam_EMP70 - no_errors NCOA6 23054 genome.wustl.edu 36 20 32801356 32801356 + Missense_Mutation SNP G G A novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 20 32801356 32801356 G A SNP NCOA6 NM_014071 human genbank 54_36p -1 reviewed missense c.2303 p.P768L 0.962 NULL NULL - no_errors CACNB1 782 genome.wustl.edu 36 17 34593581 34593581 + Missense_Mutation SNP G C C novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 17 34593581 34593581 G C SNP CACNB1 NM_000723 human genbank 54_36p -1 reviewed missense c.961 p.L321V 0.988 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ca_channel_B,HMMSmart_SM00072 superfamily_SH3-domain,HMMPfam_SH3_1,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Ca_channel_B,HMMSmart_SM00072 - no_errors KRT14 3861 genome.wustl.edu 36 17 36992304 36992304 + Missense_Mutation SNP G G A novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 17 36992304 36992304 G A SNP KRT14 NM_000526 human genbank 54_36p -1 reviewed missense c.1328 p.S443F 1.000 NULL HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF - no_errors WDR62 284403 genome.wustl.edu 36 19 41285766 41285766 + Missense_Mutation SNP G G A novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 19 41285766 41285766 G A SNP WDR62 NM_001083961 human genbank 54_36p +1 validated missense c.3412 p.G1138R 0.002 NULL superfamily_WD40 repeat-like,HMMSmart_SM00320,HMMPfam_WD40 - no_errors MAST2 23139 genome.wustl.edu 36 1 46272799 46272799 + Missense_Mutation SNP G G A novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 1 46272799 46272799 G A SNP MAST2 NM_015112 human genbank 54_36p +1 validated missense c.3871 p.G1291R 1.000 NULL HMMPfam_DUF1908,superfamily_Protein kinase-like (PK-like),HMMSmart_SM00219,HMMSmart_SM00220,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ST,HMMPfam_Pkinase_C,superfamily_PDZ domain-like,HMMSmart_SM00228,HMMPfam_PDZ - no_errors MLL2 8085 genome.wustl.edu 36 12 47713736 47713736 + Silent SNP A A T novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 12 47713736 47713736 A T SNP MLL2 NM_003482 human genbank 54_36p -1 validated silent c.11019 p.L3673 0.903 NULL superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMSmart_SM00184,PatternScan_ZF_PHD_1,HMMPfam_PHD,PatternScan_RECOMBINASES_2,HMMSmart_SM00398,superfamily_HMG-box,HMMPfam_HMG_box,HMMPfam_FYRN,HMMSmart_SM00541,HMMPfam_FYRC,HMMSmart_SM00542,superfamily_SET domain,HMMPfam_SET,HMMSmart_SM00317,HMMSmart_SM00508 - no_errors FOXP3 50943 genome.wustl.edu 36 X 49000373 49000373 + Silent SNP C T T novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d X 49000373 49000373 C T SNP FOXP3 NM_014009 human genbank 54_36p -1 reviewed silent c.495 p.P165 0.985 NULL "PatternScan_ZINC_FINGER_C2H2_1,HMMSmart_SM00339,superfamily_""Winged helix"" DNA-binding domain,HMMPfam_Fork_head,PatternScan_FORK_HEAD_2" - no_errors CLPTM1 1209 genome.wustl.edu 36 19 50185518 50185518 + Missense_Mutation SNP G G C novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 19 50185518 50185518 G C SNP CLPTM1 NM_001294 human genbank 54_36p +1 provisional missense c.1158 p.Q386H 1.000 HMMPfam_CLPTM1 HMMPfam_CLPTM1 - no_errors KRT5 3852 genome.wustl.edu 36 12 51199876 51199876 + Missense_Mutation SNP C C T novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 12 51199876 51199876 C T SNP KRT5 NM_000424 human genbank 54_36p -1 reviewed missense c.472 p.D158N 1.000 NULL HMMPfam_Filament,PatternScan_IF - no_errors KIT 3815 genome.wustl.edu 36 4 55288964 55288964 + Missense_Mutation SNP T T A novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 4 55288964 55288964 T A SNP KIT NM_000222 human genbank 54_36p +1 reviewed missense c.1910 p.L637H 1.000 superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc superfamily_SSF48726,HMMSmart_IGc2,HMMPfam_ig,HMMSmart_IG,superfamily_Kinase_like,HMMPfam_Pkinase_Tyr,HMMSmart_TyrKc,PatternScan_PROTEIN_KINASE_ATP,PatternScan_RECEPTOR_TYR_KIN_III,PatternScan_PROTEIN_KINASE_TYR - no_errors MIER3 166968 genome.wustl.edu 36 5 56255383 56255383 + Missense_Mutation SNP C A A novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 5 56255383 56255383 C A SNP MIER3 NM_152622 human genbank 54_36p -1 validated missense c.1084 p.A362S 1.000 NULL PatternScan_EF_HAND_1,HMMPfam_ELM2,superfamily_Homeodomain_like,HMMSmart_SANT,HMMPfam_Myb_DNA-binding - no_errors LOC402509 402509 genome.wustl.edu 36 7 57088338 57088338 + Silent SNP G G C novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 7 57088338 57088338 G C SNP LOC402509 XM_379840 human genbank 54_36p -1 model silent c.741 p.P247 0.803 HMMPfam_Nucleoside_tran HMMPfam_Nucleoside_tran - no_errors VPS13C 54832 genome.wustl.edu 36 15 60046868 60046868 + Missense_Mutation SNP C C A novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 15 60046868 60046868 C A SNP VPS13C NM_020821 human genbank 54_36p -1 validated missense c.2982 p.E994D 0.996 NULL HMMPfam_DUF1162 - no_errors ENAM 10117 genome.wustl.edu 36 4 71729329 71729329 + Missense_Mutation SNP A A G novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 4 71729329 71729329 A G SNP ENAM NM_031889 human genbank 54_36p +1 validated missense c.3322 p.I1108V 0.001 NULL NULL - no_errors SHROOM3 57619 genome.wustl.edu 36 4 77895286 77895286 + Silent SNP C C T novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 4 77895286 77895286 C T SNP SHROOM3 NM_020859 human genbank 54_36p +1 validated silent c.4623 p.S1541 0.000 NULL superfamily_PDZ domain-like,HMMPfam_PDZ,HMMSmart_SM00228,HMMPfam_ASD1,HMMPfam_ASD2 - no_errors SAMD9 54809 genome.wustl.edu 36 7 92572493 92572493 + Missense_Mutation SNP C C T novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 7 92572493 92572493 C T SNP SAMD9 NM_017654 human genbank 54_36p -1 validated missense c.854 p.R285Q 0.797 NULL superfamily_SAM_homology,HMMSmart_SAM,HMMPfam_SAM_1 - no_errors LOC407835 407835 genome.wustl.edu 36 7 128554804 128554804 + RNA SNP C C T novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 7 128554804 128554804 C T SNP LOC407835 NR_002144 human genbank 54_36p +1 provisional rna NULL NULL 1.000 - - - pseudogene TSC1 7248 genome.wustl.edu 36 9 134771199 134771199 + Silent SNP G A A novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 9 134771199 134771199 G A SNP TSC1 NM_000368 human genbank 54_36p -1 validated silent c.1587 p.A529 0.000 HMMPfam_Hamartin HMMPfam_Hamartin - no_errors PCDHGA1 56114 genome.wustl.edu 36 5 140692633 140692633 + Missense_Mutation SNP C T T novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 5 140692633 140692633 C T SNP PCDHGA1 NM_018912 human genbank 54_36p +1 reviewed missense c.2198 p.A733V 0.000 NULL HMMPfam_Cadherin_2,superfamily_Cadherin-like,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin - no_errors RBM16 22828 genome.wustl.edu 36 6 155181387 155181387 + Missense_Mutation SNP G T T novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 6 155181387 155181387 G T SNP RBM16 NM_014892 human genbank 54_36p +1 validated missense c.1604 p.G535V 1.000 superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1 superfamily_ENTH_VHS,HMMSmart_RPR,HMMPfam_DUF618,superfamily_SSF54928,HMMSmart_RRM,HMMPfam_RRM_1 - no_errors SDHC 6391 genome.wustl.edu 36 1 159550838 159550838 + Missense_Mutation SNP A A C novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 1 159550838 159550838 A C SNP SDHC NM_001035513 human genbank 54_36p +1 reviewed missense c.19 p.S7R 1.000 HMMPfam_Sdh_cyt HMMPfam_Sdh_cyt,superfamily_SSF81343,PatternScan_SDH_CYT_2 - no_errors SCN1A 6323 genome.wustl.edu 36 2 166638242 166638242 + Missense_Mutation SNP C C T novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 2 166638242 166638242 C T SNP SCN1A NM_006920 human genbank 54_36p -1 validated missense c.136 p.E46K 1.000 superfamily_SSF81324 superfamily_SSF81324,HMMPfam_Ion_trans,HMMPfam_Na_trans_assoc,HMMSmart_IQ,HMMPfam_IQ,PatternScan_RIBONUCLEASE_P - no_errors C6orf70 55780 genome.wustl.edu 36 6 169923411 169923411 + Missense_Mutation SNP G C C novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 6 169923411 169923411 G C SNP C6orf70 NM_018341 human genbank 54_36p +1 validated missense c.1914 p.K638N 0.922 NULL NULL - no_errors ALPI 248 genome.wustl.edu 36 2 233029950 233029950 + Missense_Mutation SNP C C A novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 2 233029950 233029950 C A SNP ALPI NM_001631 human genbank 54_36p +1 reviewed missense c.398 p.A133E 0.995 superfamily_Alkaline phosphatase-like,HMMPfam_Alk_phosphatase,HMMSmart_SM00098 superfamily_Alkaline phosphatase-like,HMMPfam_Alk_phosphatase,HMMSmart_SM00098,PatternScan_ALKALINE_PHOSPHATASE - no_errors POLG 5428 genome.wustl.edu 36 15 87677831 87677832 + In_Frame_Ins INS - - TGC novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 - - Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 15 87677831 87677832 - TGC INS POLG NM_002693 human genbank 54_36p -1 reviewed in_frame_ins c.159_158 p.56in_frame_insQ 0.017:0.017 NULL superfamily_SSF56672,HMMPfam_DNA_pol_A,HMMSmart_POLAc,PatternScan_DNA_POLYMERASE_A - no_errors ZAN 7455 genome.wustl.edu 36 7 100223498 100223532 + Frame_Shift_Del DEL GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT - novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 7 100223498 100223532 GCTTCAGCTACCGCTTGCAAGGCCGCATGACCTAT - DEL ZAN ENST00000349350 human ensembl 54_36p +1 known frame_shift_del c.7028_7062 p.F2344fs 0.088:0.076:0.047:0.031:0.008:0.004:0.007:0.317:0.790:0.908:0.967:0.964:0.963:0.997:1.000:0.999:0.997:0.968:0.891:0.954:1.000:1.000:1.000:0.999:0.998:0.998:1.000:0.999:1.000:1.000:1.000:1.000:1.000:0.990:0.736 HMMSmart_SM00216,HMMPfam_VWD HMMSmart_SM00137,HMMPfam_MAM,PatternScan_MAM_1,superfamily_Serine proterase inhibitors,HMMPfam_TIL,PatternScan_EGF_2,HMMSmart_SM00215,HMMPfam_TIL_assoc,HMMSmart_SM00216,HMMPfam_VWD,HMMPfam_C8,HMMSmart_SM00181,HMMSmart_SM00214,superfamily_EGF/Laminin,HMMPfam_EGF,PatternScan_EGF_1 (deletion:cds_exon[100223447,100223694]) no_errors HSPA8 3312 genome.wustl.edu 36 11 122435503 122435513 + Frame_Shift_Del DEL CAGGACAATAT CAGGACAATAT - novel unknown TCGA-04-1646-01A-01W-0639-09 TCGA-04-1646-11A-01W-0639-09 CAGGACAATAT CAGGACAATAT Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx 85e723d0-83fa-4654-8c17-5fe4f2801487 813465a1-876e-41e3-aed3-456efa85637d 11 122435503 122435513 CAGGACAATAT - DEL HSPA8 NM_006597 human genbank 54_36p -1 reviewed frame_shift_del c.1008_998 p.D333fs 1.000:1.000:0.970:0.994:1.000:1.000:1.000:1.000:1.000:0.940:1.000 HMMPfam_HSP70,superfamily_Actin-like ATPase domain superfamily_Actin-like ATPase domain,HMMPfam_HSP70,PatternScan_HSP70_1,PatternScan_HSP70_2,PatternScan_HSP70_3,superfamily_Heat shock protein 70kD (HSP70) peptide-binding domain,superfamily_Heat shock protein 70kD (HSP70) C-terminal subdomain (deletion:cds_exon[122435391,122435946]) no_errors