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 ENSG00000210082 0 genome.wustl.edu 36 MT 2235 2235 + RNA SNP T T C novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 MT 2235 2235 T C SNP ENSG00000210082 ENST00000387347 human ensembl 54_36p +1 known rna NULL NULL NULL - - - no_errors MT-CO2 0 genome.wustl.edu 36 MT 7944 7944 + Missense_Mutation SNP T C C novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 MT 7944 7944 T C SNP MT-CO2 ENST00000361739 human ensembl 54_36p +1 known missense c.358 p.S120P NULL superfamily_Cupredoxins,HMMPfam_COX2 HMMPfam_COX2_TM,superfamily_Cytochrome c oxidase subunit II-like transmembrane region,superfamily_Cupredoxins,HMMPfam_COX2,PatternScan_COX2 - no_errors C16orf13 84326 genome.wustl.edu 36 16 626169 626169 + Missense_Mutation SNP G G T novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 16 626169 626169 G T SNP C16orf13 NM_001040160 human genbank 54_36p -1 validated missense c.123 p.H41Q 0.408 HMMPfam_DUF938,superfamily_S-adenosyl-L-methionine-dependent methyltransferases HMMPfam_DUF938,superfamily_S-adenosyl-L-methionine-dependent methyltransferases - no_errors ATP2A3 489 genome.wustl.edu 36 17 3797593 3797593 + Silent SNP C C A novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 17 3797593 3797593 C A SNP ATP2A3 NM_174953 human genbank 54_36p -1 reviewed silent c.936 p.P312 0.619 superfamily_Calcium ATPase transmembrane domain M,HMMPfam_E1-E2_ATPase superfamily_Calcium ATPase transmembrane domain M,HMMPfam_Cation_ATPase_N,HMMPfam_E1-E2_ATPase,superfamily_Calcium ATPase transduction domain A,HMMPfam_Hydrolase,PatternScan_ATPASE_E1_E2,superfamily_Metal cation-transporting ATPase ATP-binding domain N,superfamily_HAD-like,HMMPfam_Cation_ATPase_C - no_errors ZNF12 7559 genome.wustl.edu 36 7 6698379 6698379 + Missense_Mutation SNP G G T novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 7 6698379 6698379 G T SNP ZNF12 NM_016265 human genbank 54_36p -1 reviewed missense c.719 p.P240H 0.962 superfamily_SSF57667 superfamily_Krueppel-associated_box,HMMPfam_KRAB,HMMSmart_KRAB,superfamily_SSF57667,HMMPfam_zf-C2H2,HMMSmart_ZnF_C2H2,PatternScan_ZINC_FINGER_C2H2_1 - no_errors GPR143 4935 genome.wustl.edu 36 X 9671702 9671702 + Missense_Mutation SNP G G A novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 X 9671702 9671702 G A SNP GPR143 NM_000273 human genbank 54_36p -1 reviewed missense c.730 p.L244F 0.999 HMMPfam_Ocular_alb HMMPfam_Ocular_alb - no_errors HS3ST1 9957 genome.wustl.edu 36 4 11010564 11010564 + Missense_Mutation SNP G G A novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 4 11010564 11010564 G A SNP HS3ST1 NM_005114 human genbank 54_36p -1 reviewed missense c.164 p.P55L 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_Sulfotransfer_1 - no_errors EMR3 84658 genome.wustl.edu 36 19 14619001 14619001 + Missense_Mutation SNP G G C novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 19 14619001 14619001 G C SNP EMR3 NM_032571 human genbank 54_36p -1 reviewed missense c.874 p.H292D 0.008 NULL HMMSmart_SM00181,PatternScan_EGF_CA,HMMPfam_EGF_CA,HMMSmart_SM00179,superfamily_EGF/Laminin,PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,superfamily_Family A G protein-coupled receptor-like,HMMPfam_7tm_2,PatternScan_G_PROTEIN_RECEP_F2_2 - no_errors EMR3 84658 genome.wustl.edu 36 19 14635264 14635264 + Silent SNP C C T novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 19 14635264 14635264 C T SNP EMR3 NM_032571 human genbank 54_36p -1 reviewed silent c.165 p.Q55 0.000 HMMSmart_SM00181 PatternScan_ASX_HYDROXYL,HMMPfam_GPS,HMMSmart_SM00303,HMMPfam_7tm_2,HMMSmart_SM00179,HMMSmart_SM00181,HMMPfam_EGF_CA,PatternScan_G_PROTEIN_RECEP_F2_2,PatternScan_EGF_CA,superfamily_EGF/Laminin,superfamily_Family A G protein-coupled receptor-like - no_errors OR7A10 390892 genome.wustl.edu 36 19 14813576 14813576 + Silent SNP A A T novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 19 14813576 14813576 A T SNP OR7A10 NM_001005190 human genbank 54_36p -1 provisional silent c.114 p.T38 0.001 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors CYFIP1 23191 genome.wustl.edu 36 15 20506637 20506637 + Silent SNP C C T novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 15 20506637 20506637 C T SNP CYFIP1 NM_014608 human genbank 54_36p +1 validated silent c.1590 p.D530 1.000 HMMPfam_FragX_IP HMMPfam_FragX_IP - no_errors DNAH3 55567 genome.wustl.edu 36 16 20883935 20883935 + Missense_Mutation SNP C C G novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 16 20883935 20883935 C G SNP DNAH3 NM_017539 human genbank 54_36p -1 provisional missense c.8772 p.Q2924H 0.436 superfamily_Prefoldin HMMPfam_DHC_N2,superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5,superfamily_Prefoldin,HMMPfam_Dynein_heavy - no_errors PIGV 55650 genome.wustl.edu 36 1 26996908 26996908 + Missense_Mutation SNP C C G novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 1 26996908 26996908 C G SNP PIGV NM_017837 human genbank 54_36p +1 validated missense c.1468 p.L490V 1.000 HMMPfam_Mannosyl_trans2 HMMPfam_Mannosyl_trans2 - no_errors GSG1L 146395 genome.wustl.edu 36 16 27726308 27726308 + Splice_Site SNP C C T novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 16 27726308 27726308 C T SNP GSG1L NM_001109763 human genbank 54_36p -1 validated splice_site c.898+1 e6+1 0.997 - - - no_errors AP1B1 162 genome.wustl.edu 36 22 28054827 28054827 + Missense_Mutation SNP T T C novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 22 28054827 28054827 T C SNP AP1B1 NM_001127 human genbank 54_36p -1 reviewed missense c.2833 p.T945A 1.000 superfamily_Subdomain of clathrin and coatomer appendage domain,HMMPfam_B2-adapt-app_C superfamily_ARM repeat,HMMPfam_Adaptin_N,HMMSmart_SM00185,superfamily_Clathrin adaptor appendage domain,HMMSmart_SM00809,HMMPfam_Alpha_adaptinC2,superfamily_Subdomain of clathrin and coatomer appendage domain,HMMPfam_B2-adapt-app_C - no_errors TRNAU1AP 54952 genome.wustl.edu 36 1 28763886 28763886 + Silent SNP C C T novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 1 28763886 28763886 C T SNP TRNAU1AP NM_017846 human genbank 54_36p +1 validated silent c.363 p.P121 0.985 superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 HMMSmart_SM00360,superfamily_RNA-binding domain RBD,HMMPfam_RRM_1 - no_errors CCL8 6355 genome.wustl.edu 36 17 29672002 29672002 + Missense_Mutation SNP A A T novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 17 29672002 29672002 A T SNP CCL8 NM_005623 human genbank 54_36p +1 reviewed missense c.263 p.K88M 0.021 HMMPfam_IL8,superfamily_Chemokine_IL8,HMMSmart_SCY HMMPfam_IL8,superfamily_Chemokine_IL8,HMMSmart_SCY,PatternScan_SMALL_CYTOKINES_CC - no_errors LOC100128974 0 genome.wustl.edu 36 15 33378207 33378207 + RNA SNP G G A novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 15 33378207 33378207 G A SNP LOC100128974 XR_038065 human genbank 54_36p -1 model rna NULL NULL 0.992 - - - pseudogene KRT24 192666 genome.wustl.edu 36 17 36111710 36111710 + Missense_Mutation SNP A A T novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 17 36111710 36111710 A T SNP KRT24 NM_019016 human genbank 54_36p -1 validated missense c.617 p.I206N 1.000 HMMPfam_Filament HMMPfam_Filament,superfamily_Prefoldin,PatternScan_IF - no_errors PPP1R16B 26051 genome.wustl.edu 36 20 36969978 36969978 + Missense_Mutation SNP C C G novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 20 36969978 36969978 C G SNP PPP1R16B NM_015568 human genbank 54_36p +1 reviewed missense c.1014 p.S338R 0.972 NULL superfamily_Ankyrin repeat,HMMSmart_SM00248,HMMPfam_Ank - no_errors KIAA0564 23078 genome.wustl.edu 36 13 41233323 41233323 + Missense_Mutation SNP C C A novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 13 41233323 41233323 C A SNP KIAA0564 NM_015058 human genbank 54_36p -1 validated missense c.2367 p.K789N 1.000 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMSmart_SM00382,HMMPfam_AAA_5 superfamily_P-loop containing nucleoside triphosphate hydrolases,HMMPfam_AAA_5,HMMSmart_SM00382,superfamily_vWA-like,HMMSmart_SM00327 - no_errors WDR21B 285429 genome.wustl.edu 36 4 41678838 41678838 + Missense_Mutation SNP A A C novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 4 41678838 41678838 A C SNP WDR21B NM_001029955 human genbank 54_36p +1 validated missense c.272 p.Q91P 1.000 superfamily_WD40 repeat-like superfamily_WD40 repeat-like,HMMSmart_SM00320 - no_errors POLB 5423 genome.wustl.edu 36 8 42334013 42334013 + Missense_Mutation SNP G G C novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 8 42334013 42334013 G C SNP POLB NM_002690 human genbank 54_36p +1 provisional missense c.496 p.V166L 1.000 HMMSmart_POLXc,superfamily_SSF81301 superfamily_DNApol_B_N_like,HMMSmart_POLXc,HMMSmart_HhH1,superfamily_DNA_pol_lambd_fingers_domain,HMMPfam_DNA_pol_lambd_f,superfamily_SSF81301,PatternScan_DNA_POLYMERASE_X - no_errors LOXHD1 125336 genome.wustl.edu 36 18 42375816 42375816 + Nonsense_Mutation SNP C C T novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 18 42375816 42375816 C T SNP LOXHD1 ENST00000398722 human ensembl 54_36p -1 known nonsense c.3000 p.W1000* 1.000 superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,HMMSmart_SM00308 superfamily_Lipase/lipooxygenase domain (PLAT/LH2 domain),HMMPfam_PLAT,HMMSmart_SM00308 - no_errors RYR1 6261 genome.wustl.edu 36 19 43656186 43656186 + Silent SNP A A T novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 19 43656186 43656186 A T SNP RYR1 NM_000540 human genbank 54_36p +1 reviewed silent c.4095 p.G1365 0.534 NULL HMMPfam_Ins145_P3_rec,HMMSmart_SM00472,HMMPfam_MIR,superfamily_MIR domain (Pfam 02815),HMMPfam_RYDR_ITPR,HMMPfam_SPRY,HMMSmart_SM00449,HMMPfam_RyR,HMMPfam_RIH_assoc,superfamily_EF-hand,HMMPfam_RR_TM4-6,HMMPfam_Ion_trans - no_errors IGF2BP1 10642 genome.wustl.edu 36 17 44430261 44430261 + Missense_Mutation SNP A A G novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 17 44430261 44430261 A G SNP IGF2BP1 NM_006546 human genbank 54_36p +1 reviewed missense c.155 p.K52R 1.000 superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1 superfamily_RNA-binding domain RBD,HMMSmart_SM00360,HMMPfam_RRM_1,superfamily_Eukaryotic type KH-domain (KH-domain type I),HMMSmart_SM00322,HMMPfam_KH_1 - no_errors ATP8B4 79895 genome.wustl.edu 36 15 47941791 47941791 + Missense_Mutation SNP C C A novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 15 47941791 47941791 C A SNP ATP8B4 NM_024837 human genbank 54_36p -1 validated missense c.3240 p.M1080I 1.000 superfamily_SSF81665 superfamily_SSF81665,HMMPfam_E1-E2_ATPase,superfamily_SSF81653,superfamily_SSF56784,PatternScan_ATPASE_E1_E2,superfamily_SSF81660,HMMPfam_Hydrolase_3 - no_errors HDAC6 10013 genome.wustl.edu 36 X 48567080 48567080 + Missense_Mutation SNP G G A novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 X 48567080 48567080 G A SNP HDAC6 NM_006044 human genbank 54_36p +1 reviewed missense c.3244 p.G1082R 1.000 NULL superfamily_SSF52768,HMMPfam_Hist_deacetyl,HMMSmart_ZnF_UBP,HMMPfam_zf-UBP - no_errors NEK5 341676 genome.wustl.edu 36 13 51544090 51544090 + Missense_Mutation SNP G G C novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 13 51544090 51544090 G C SNP NEK5 NM_199289 human genbank 54_36p -1 provisional missense c.1915 p.P639A 0.915 NULL superfamily_Kinase_like,HMMSmart_S_TKc,HMMPfam_Pkinase,PatternScan_PROTEIN_KINASE_ATP,PatternScan_PROTEIN_KINASE_ST - no_errors MRPS23 51649 genome.wustl.edu 36 17 53281657 53281657 + Missense_Mutation SNP T T C novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 17 53281657 53281657 T C SNP MRPS23 NM_016070 human genbank 54_36p -1 reviewed missense c.158 p.Y53C 0.989 HMMPfam_MRP-S23 HMMPfam_MRP-S23 - no_errors LIG1 3978 genome.wustl.edu 36 19 53346397 53346397 + Missense_Mutation SNP G G C novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 19 53346397 53346397 G C SNP LIG1 NM_000234 human genbank 54_36p -1 reviewed missense c.478 p.P160A 0.199 NULL HMMPfam_DNA_ligase_A_N,superfamily_DNA ligase/mRNA capping enzyme catalytic domain,HMMPfam_DNA_ligase_A_M,PatternScan_DNA_LIGASE_A1,PatternScan_DNA_LIGASE_A2,HMMPfam_DNA_ligase_A_C - no_errors TEAD2 8463 genome.wustl.edu 36 19 54538463 54538463 + Missense_Mutation SNP T T A novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 19 54538463 54538463 T A SNP TEAD2 NM_003598 human genbank 54_36p -1 provisional missense c.914 p.D305V 1.000 HMMPfam_TEA HMMPfam_TEA,HMMSmart_TEA,PatternScan_TEA_1 - no_errors RTN4 57142 genome.wustl.edu 36 2 55106469 55106469 + Missense_Mutation SNP G G A novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 2 55106469 55106469 G A SNP RTN4 NM_020532 human genbank 54_36p -1 reviewed missense c.2270 p.P757L 1.000 NULL HMMPfam_Reticulon - no_errors ZBTB39 9880 genome.wustl.edu 36 12 55684945 55684945 + Silent SNP T T C novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 12 55684945 55684945 T C SNP ZBTB39 NM_014830 human genbank 54_36p -1 provisional silent c.24 p.Q8 1.000 superfamily_POZ domain superfamily_POZ domain,HMMPfam_BTB,HMMSmart_SM00225,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2 - no_errors LOC388559 388559 genome.wustl.edu 36 19 58102204 58102204 + Missense_Mutation SNP A A C novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 19 58102204 58102204 A C SNP LOC388559 XM_496322 human genbank 54_36p -1 model missense c.1129 p.S377A 0.014 superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 superfamily_KRAB domain (Kruppel-associated box Pfam 01352),HMMPfam_KRAB,HMMSmart_SM00349,superfamily_C2H2 and C2HC zinc fingers,HMMPfam_zf-C2H2,HMMSmart_SM00355,PatternScan_ZINC_FINGER_C2H2_1 - no_errors EYS 346007 genome.wustl.edu 36 6 66101609 66101609 + Missense_Mutation SNP T T A novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 6 66101609 66101609 T A SNP EYS NM_198283 human genbank 54_36p -1 reviewed missense c.1751 p.E584V 0.972 NULL superfamily_EGF/Laminin,HMMSmart_SM00181,HMMPfam_EGF,PatternScan_EGF_1,PatternScan_EGF_2,HMMSmart_SM00179 - no_errors CDH1 999 genome.wustl.edu 36 16 67400227 67400227 + Missense_Mutation SNP A A T novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 16 67400227 67400227 A T SNP CDH1 NM_004360 human genbank 54_36p +1 reviewed missense c.662 p.D221V 1.000 HMMPfam_Cadherin,superfamily_Cadherin-like,HMMSmart_SM00112 superfamily_Cadherin-like,HMMPfam_Cadherin_pro,HMMPfam_Cadherin,HMMSmart_SM00112,PatternScan_CADHERIN_1,HMMPfam_Cadherin_C - no_errors LOC339970 339970 genome.wustl.edu 36 4 68586887 68586887 + RNA SNP C C A novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 4 68586887 68586887 C A SNP LOC339970 XR_038239 human genbank 54_36p +1 model rna NULL NULL 0.001 - - - pseudogene CLEC4F 165530 genome.wustl.edu 36 2 70897005 70897005 + Missense_Mutation SNP T T A novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 2 70897005 70897005 T A SNP CLEC4F NM_173535 human genbank 54_36p -1 validated missense c.1016 p.K339I 0.018 NULL PatternScan_C_TYPE_LECTIN_1,superfamily_C-type_lectin_fold - no_errors MBP 4155 genome.wustl.edu 36 18 72825723 72825723 + Missense_Mutation SNP T T A novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 18 72825723 72825723 T A SNP MBP NM_001025101 human genbank 54_36p -1 reviewed missense c.866 p.K289M 0.983 HMMPfam_Myelin_MBP HMMPfam_Myelin_MBP,PatternScan_MYELIN_MBP - no_errors RASGRF2 5924 genome.wustl.edu 36 5 80539937 80539937 + Missense_Mutation SNP T T C novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 5 80539937 80539937 T C SNP RASGRF2 NM_006909 human genbank 54_36p +1 validated missense c.3080 p.L1027P 1.000 superfamily_Ras GEF,HMMSmart_SM00147,HMMPfam_RasGEF superfamily_PH domain-like,HMMPfam_PH,HMMSmart_SM00233,HMMPfam_IQ,superfamily_DBL homology domain (DH-domain),HMMPfam_RhoGEF,HMMSmart_SM00325,superfamily_Ras GEF,HMMSmart_SM00229,HMMPfam_RasGEF_N,HMMSmart_SM00147,HMMPfam_RasGEF,PatternScan_RASGEF - no_errors LRRIQ1 84125 genome.wustl.edu 36 12 83974865 83974865 + Missense_Mutation SNP A A T novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 12 83974865 83974865 A T SNP LRRIQ1 NM_001079910 human genbank 54_36p +1 validated missense c.2163 p.E721D 0.000 superfamily_RNI-like superfamily_RNI-like,HMMSmart_SM00015,HMMPfam_LRR_1,HMMSmart_SM00369,HMMPfam_IQ,superfamily_P-loop containing nucleoside triphosphate hydrolases - no_errors C9orf170 0 genome.wustl.edu 36 9 88953565 88953565 + Missense_Mutation SNP G G C novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 9 88953565 88953565 G C SNP C9orf170 NM_001001709 human genbank 54_36p +1 validated missense c.100 p.A34P 0.000 NULL NULL - no_errors WDR21C 138009 genome.wustl.edu 36 8 88954833 88954833 + Silent SNP C C T novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 8 88954833 88954833 C T SNP WDR21C NM_152418 human genbank 54_36p -1 validated silent c.483 p.A161 0.988 superfamily_WD40_like PatternScan_WD_REPEATS_1,superfamily_WD40_like,HMMSmart_WD40,HMMPfam_WD40 - no_errors LOC100132737 0 genome.wustl.edu 36 7 97350783 97350783 + RNA SNP T C C novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 7 97350783 97350783 T C SNP LOC100132737 XR_039349 human genbank 54_36p +1 model rna NULL NULL 0.029 - - - pseudogene SRRT 51593 genome.wustl.edu 36 7 100317635 100317635 + Missense_Mutation SNP C C A novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 7 100317635 100317635 C A SNP SRRT NM_015908 human genbank 54_36p +1 validated missense c.424 p.L142M 0.986 NULL HMMPfam_ARS2 - no_errors MLL5 55904 genome.wustl.edu 36 7 104534400 104534400 + Missense_Mutation SNP A A G novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 7 104534400 104534400 A G SNP MLL5 NM_018682 human genbank 54_36p +1 reviewed missense c.2792 p.Y931C 1.000 NULL superfamily_FYVE/PHD zinc finger,HMMSmart_SM00249,HMMPfam_PHD,PatternScan_ZF_PHD_1,HMMPfam_SET,HMMSmart_SM00317,superfamily_SET domain - no_errors MED13L 23389 genome.wustl.edu 36 12 114937343 114937343 + Missense_Mutation SNP C C T novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 12 114937343 114937343 C T SNP MED13L NM_015335 human genbank 54_36p -1 validated missense c.1129 p.V377I 1.000 NULL HMMPfam_TRAP_240kDa - no_errors ATG12 9140 genome.wustl.edu 36 5 115205210 115205210 + Missense_Mutation SNP C C A novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 5 115205210 115205210 C A SNP ATG12 NM_004707 human genbank 54_36p -1 validated missense c.80 p.R27I 0.000 NULL HMMPfam_APG12,superfamily_SSF54236 - no_errors TBX15 6913 genome.wustl.edu 36 1 119275804 119275804 + Missense_Mutation SNP T T C novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 T T Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 1 119275804 119275804 T C SNP TBX15 NM_152380 human genbank 54_36p -1 validated missense c.62 p.H21R 1.000 superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box,PatternScan_TBOX_1 superfamily_P53_like_DNA_bnd,HMMSmart_TBOX,HMMPfam_T-box,PatternScan_TBOX_1,PatternScan_TBOX_2 - no_errors ADAMTS13 11093 genome.wustl.edu 36 9 135292747 135292747 + Missense_Mutation SNP G G A novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 9 135292747 135292747 G A SNP ADAMTS13 NM_139025 human genbank 54_36p +1 reviewed missense c.1493 p.R498H 1.000 NULL "superfamily_Metalloproteases (""zincins"") catalytic domain,HMMPfam_Peptidase_M10,HMMSmart_SM00608,superfamily_TSP-1 type 1 repeat,HMMSmart_SM00209,HMMPfam_TSP_1,superfamily_Spermadhesin CUB domain" - no_errors AFF2 2334 genome.wustl.edu 36 X 147852105 147852105 + Missense_Mutation SNP C C A novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 X 147852105 147852105 C A SNP AFF2 NM_002025 human genbank 54_36p +1 validated missense c.2855 p.T952N 0.047 HMMPfam_AF-4 HMMPfam_AF-4 - no_errors MAMLD1 10046 genome.wustl.edu 36 X 149390379 149390379 + Nonsense_Mutation SNP C C T novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 X 149390379 149390379 C T SNP MAMLD1 NM_005491 human genbank 54_36p +1 validated nonsense c.1876 p.R626* 0.795 NULL NULL - no_errors DPT 1805 genome.wustl.edu 36 1 166964999 166964999 + Missense_Mutation SNP A A T novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 1 166964999 166964999 A T SNP DPT NM_001937 human genbank 54_36p -1 reviewed missense c.38 p.V13D 0.374 NULL NULL - no_errors OR2Y1 134083 genome.wustl.edu 36 5 180098777 180098777 + Silent SNP C C A novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 5 180098777 180098777 C A SNP OR2Y1 NM_001001657 human genbank 54_36p -1 provisional silent c.888 p.V296 0.627 superfamily_SSF81321 superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors NFASC 23114 genome.wustl.edu 36 1 203223195 203223195 + Missense_Mutation SNP G G C novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 1 203223195 203223195 G C SNP NFASC NM_015090 human genbank 54_36p +1 validated missense c.2806 p.V936L 0.995 superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3 HMMPfam_I-set,superfamily_SSF48726,HMMSmart_IG,HMMPfam_ig,HMMSmart_IGc2,superfamily_FN_III-like,HMMSmart_FN3,HMMPfam_fn3 - no_errors USH2A 7399 genome.wustl.edu 36 1 214415420 214415420 + Missense_Mutation SNP A A T novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 A A Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 1 214415420 214415420 A T SNP USH2A NM_206933 human genbank 54_36p -1 reviewed missense c.4424 p.V1475D 0.001 superfamily_Concanavalin A-like lectins/glucanases,superfamily_Fibronectin type III superfamily_Concanavalin A-like lectins/glucanases,HMMSmart_SM00560,HMMSmart_SM00136,HMMPfam_Laminin_N,HMMPfam_Laminin_EGF,HMMSmart_SM00180,superfamily_EGF/Laminin,PatternScan_EGF_LAM_1,PatternScan_EGF_1,superfamily_Fibronectin type III,HMMSmart_SM00060,HMMPfam_fn3,HMMSmart_SM00282,HMMPfam_Laminin_G_2 - no_errors LEFTY1 10637 genome.wustl.edu 36 1 224143212 224143212 + Missense_Mutation SNP G G T novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 G G Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 1 224143212 224143212 G T SNP LEFTY1 NM_020997 human genbank 54_36p -1 reviewed missense c.178 p.Q60K 0.977 HMMPfam_TGFb_propeptide HMMPfam_TGFb_propeptide,superfamily_SSF57501,HMMPfam_TGF_beta,HMMSmart_TGFB,PatternScan_TGF_BETA_1 - no_errors CHRM3 1131 genome.wustl.edu 36 1 238137443 238137443 + Silent SNP C C T novel unknown TCGA-42-2590-01A-01D-1526-09 TCGA-42-2590-10A-01D-1526-09 C C Unknown Unknown Somatic 4 Capture 1 dbGAP Illumina GAIIx f59c1c10-22f7-4df7-91f5-4b3c2bfee848 6d4a192d-8d95-48d0-8eb7-e795beae9f29 1 238137443 238137443 C T SNP CHRM3 NM_000740 human genbank 54_36p +1 reviewed silent c.69 p.S23 0.000 NULL superfamily_SSF81321,HMMPfam_7tm_1,PatternScan_G_PROTEIN_RECEP_F1_1 - no_errors