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 Genome_Change Annotation_Transcript Transcript_Strand Transcript_Exon Transcript_Position cDNA_Change Codon_Change Protein_Change Other_Transcripts Refseq_mRNA_Id Refseq_prot_Id SwissProt_acc_Id SwissProt_entry_Id Description UniProt_AApos UniProt_Region UniProt_Site UniProt_Natural_Variations UniProt_Experimental_Info GO_Biological_Process GO_Cellular_Component GO_Molecular_Function COSMIC_overlapping_mutations COSMIC_fusion_genes COSMIC_tissue_types_affected COSMIC_total_alterations_in_gene Tumorscape_Amplification_Peaks Tumorscape_Deletion_Peaks TCGAscape_Amplification_Peaks TCGAscape_Deletion_Peaks DrugBank ref_context gc_content CCLE_ONCOMAP_overlapping_mutations CCLE_ONCOMAP_total_mutations_in_gene CGC_Mutation_Type CGC_Translocation_Partner CGC_Tumor_Types_Somatic CGC_Tumor_Types_Germline CGC_Other_Diseases DNARepairGenes_Role FamilialCancerDatabase_Syndromes MUTSIG_Published_Results OREGANNO_ID OREGANNO_Values t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample TAF13 6884 broad.mit.edu 37 1 109608797 109608797 + Missense_Mutation SNP T T C TCGA-XJ-A9DI-01A-11D-A377-08 TCGA-XJ-A9DI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 344706a8-f56a-4d3b-b7f9-97eb0aa3924d 0d12cfa6-26d0-40cd-9278-2fc8f1f81f08 g.chr1:109608797T>C ENST00000338366.5 - 3 218 c.164A>G c.(163-165)gAt>gGt p.D55G NM_005645.3 NP_005636.1 Q15543 TAF13_HUMAN TAF13 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 18kDa 55 transcription elongation from RNA polymerase II promoter|viral reproduction transcription factor TFIID complex protein C-terminus binding|sequence-specific DNA binding transcription factor activity endometrium(1)|large_intestine(1)|lung(1) 3 all_epithelial(167;0.000102)|all_lung(203;0.000321)|Lung NSC(277;0.000626) Colorectal(144;0.0138)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.166)|all cancers(265;0.191)|LUSC - Lung squamous cell carcinoma(189;0.228) TTCAAGAATATCCACTGACTC 0.318 8 102 --- --- --- --- SUCO 51430 broad.mit.edu 37 1 172555033 172555033 + Missense_Mutation SNP G G A TCGA-XJ-A9DI-01A-11D-A377-08 TCGA-XJ-A9DI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 344706a8-f56a-4d3b-b7f9-97eb0aa3924d 0d12cfa6-26d0-40cd-9278-2fc8f1f81f08 g.chr1:172555033G>A ENST00000367723.4 + 16 2180 c.2056G>A c.(2056-2058)Gct>Act p.A686T SUCO_ENST00000263688.3_Missense_Mutation_p.A535T|SUCO_ENST00000610051.1_Missense_Mutation_p.A498T|SUCO_ENST00000608151.1_Missense_Mutation_p.A687T NM_016227.2 NP_057311.3 SUN domain containing ossification factor CACTGCCACAGCTGCACCTAA 0.333 5 127 --- --- --- --- IGKV1-5 28299 broad.mit.edu 37 2 89247114 89247114 + RNA SNP C C A TCGA-XJ-A9DI-01A-11D-A377-08 TCGA-XJ-A9DI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 344706a8-f56a-4d3b-b7f9-97eb0aa3924d 0d12cfa6-26d0-40cd-9278-2fc8f1f81f08 g.chr2:89247114C>A ENST00000496168.1 - 0 236 ACATTTGGCACCTGAGATTGG 0.453 9 138 --- --- --- --- DOCK2 1794 broad.mit.edu 37 5 169504824 169504824 + Missense_Mutation SNP C C A TCGA-XJ-A9DI-01A-11D-A377-08 TCGA-XJ-A9DI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 344706a8-f56a-4d3b-b7f9-97eb0aa3924d 0d12cfa6-26d0-40cd-9278-2fc8f1f81f08 g.chr5:169504824C>A ENST00000256935.8 + 48 5057 c.4977C>A c.(4975-4977)agC>agA p.S1659R DOCK2_ENST00000520908.1_Missense_Mutation_p.S1151R|DOCK2_ENST00000540750.1_Missense_Mutation_p.S720R|DOCK2_ENST00000523351.1_3'UTR NM_004946.2 NP_004937.1 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1659 actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCACCCCCAGCAAGCCTACCT 0.602 3 29 --- --- --- --- BCLAF1 9774 broad.mit.edu 37 6 136599066 136599066 + Missense_Mutation SNP C C T TCGA-XJ-A9DI-01A-11D-A377-08 TCGA-XJ-A9DI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 344706a8-f56a-4d3b-b7f9-97eb0aa3924d 0d12cfa6-26d0-40cd-9278-2fc8f1f81f08 g.chr6:136599066C>T ENST00000531224.1 - 4 1205 c.953G>A c.(952-954)cGt>cAt p.R318H BCLAF1_ENST00000392348.2_Missense_Mutation_p.R316H|BCLAF1_ENST00000527536.1_Missense_Mutation_p.R318H|BCLAF1_ENST00000530767.1_Missense_Mutation_p.R318H|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R316H|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R316H NM_001077441.1|NM_014739.2 NP_001070909.1|NP_055554.1 Q9NYF8 BCLF1_HUMAN BCL2-associated transcription factor 1 318 induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1) 9 Colorectal(23;0.24) GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331) AAACGAGGAACGGCCCCTAGA 0.408 4 159 --- --- --- --- TNS3 64759 broad.mit.edu 37 7 47408548 47408548 + Silent SNP G G A TCGA-XJ-A9DI-01A-11D-A377-08 TCGA-XJ-A9DI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 344706a8-f56a-4d3b-b7f9-97eb0aa3924d 0d12cfa6-26d0-40cd-9278-2fc8f1f81f08 g.chr7:47408548G>A ENST00000398879.1 - 17 2061 c.1695C>T c.(1693-1695)ccC>ccT p.P565P TNS3_ENST00000311160.9_Silent_p.P565P|TNS3_ENST00000355730.3_Silent_p.P325P Q68CZ2 TENS3_HUMAN tensin 3 565 focal adhesion protein binding NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 64 TTCTCAGCAGGGGCTGGGGCT 0.647 5 75 --- --- --- --- HSPB1 3315 broad.mit.edu 37 7 75933153 75933153 + Silent SNP C C T rs140791936 by1000genomes TCGA-XJ-A9DI-01A-11D-A377-08 TCGA-XJ-A9DI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 344706a8-f56a-4d3b-b7f9-97eb0aa3924d 0d12cfa6-26d0-40cd-9278-2fc8f1f81f08 g.chr7:75933153C>T ENST00000248553.6 + 2 568 c.399C>T c.(397-399)taC>taT p.Y133Y HSPB1_ENST00000429938.1_5'UTR NM_001540.3 NP_001531.1 P04792 HSPB1_HUMAN heat shock 27kDa protein 1 133 Interaction with TGFB1I1 (By similarity). anti-apoptosis|cell death|cellular component movement|mRNA metabolic process|positive regulation of interleukin-1 beta production|positive regulation of tumor necrosis factor biosynthetic process|regulation of I-kappaB kinase/NF-kappaB cascade|regulation of translational initiation|response to heat|response to unfolded protein|response to virus cell surface|cytosol|nucleus|proteasome complex|spindle identical protein binding|protein kinase C delta binding|protein kinase C inhibitor activity|ubiquitin binding large_intestine(1)|lung(3) 4 AGCATGGCTACATCTCCCGGT 0.667 4 71 --- --- --- --- CYP7A1 1581 broad.mit.edu 37 8 59412637 59412637 + Silent SNP A A T TCGA-XJ-A9DI-01A-11D-A377-08 TCGA-XJ-A9DI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 344706a8-f56a-4d3b-b7f9-97eb0aa3924d 0d12cfa6-26d0-40cd-9278-2fc8f1f81f08 g.chr8:59412637A>T ENST00000301645.3 - 1 158 c.21T>A c.(19-21)atT>atA p.I7I NM_000780.3 NP_000771.2 P22680 CP7A1_HUMAN cytochrome P450, family 7, subfamily A, polypeptide 1 7 bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1) 34 all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554) CAATCCCCCAAATCAAAGATG 0.378 Neonatal Giant Cell Hepatitis 7 104 --- --- --- --- CHD7 55636 broad.mit.edu 37 8 61655594 61655594 + Nonsense_Mutation SNP C C T TCGA-XJ-A9DI-01A-11D-A377-08 TCGA-XJ-A9DI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 344706a8-f56a-4d3b-b7f9-97eb0aa3924d 0d12cfa6-26d0-40cd-9278-2fc8f1f81f08 g.chr8:61655594C>T ENST00000423902.2 + 2 2082 c.1603C>T c.(1603-1605)Cag>Tag p.Q535* CHD7_ENST00000525508.1_Nonsense_Mutation_p.Q535*|CHD7_ENST00000524602.1_Nonsense_Mutation_p.Q535* NM_017780.3 NP_060250.2 Q9P2D1 CHD7_HUMAN chromodomain helicase DNA binding protein 7 535 Pro-rich. central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent nucleus ATP binding|chromatin binding|DNA binding|helicase activity NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3) 123 all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477) BRCA - Breast invasive adenocarcinoma(89;0.143) CCCTCATCACCAGCCTTGGGC 0.587 6 24 --- --- --- --- R3HCC1L 27291 broad.mit.edu 37 10 99968462 99968462 + Silent SNP A A G TCGA-XJ-A9DI-01A-11D-A377-08 TCGA-XJ-A9DI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 344706a8-f56a-4d3b-b7f9-97eb0aa3924d 0d12cfa6-26d0-40cd-9278-2fc8f1f81f08 g.chr10:99968462A>G ENST00000298999.3 + 5 894 c.591A>G c.(589-591)gcA>gcG p.A197A R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370584.3_Silent_p.A197A NM_014472.4 NP_055287 R3H domain and coiled-coil containing 1-like ATGGGGAAGCATTTGAAGACA 0.408 8 81 --- --- --- --- GTF2H3 2967 broad.mit.edu 37 12 124118414 124118414 + Missense_Mutation SNP C C T TCGA-XJ-A9DI-01A-11D-A377-08 TCGA-XJ-A9DI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 344706a8-f56a-4d3b-b7f9-97eb0aa3924d 0d12cfa6-26d0-40cd-9278-2fc8f1f81f08 g.chr12:124118414C>T ENST00000543341.2 + 1 39 c.8C>T c.(7-9)tCa>tTa p.S3L GTF2H3_ENST00000228955.7_5'UTR NM_001271867.1|NM_001516.3 NP_001258796.1|NP_001507.2 Q13889 TF2H3_HUMAN general transcription factor IIH, polypeptide 3, 34kDa 3 mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction core TFIIH complex|holo TFIIH complex damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1) 10 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362) GCCATGGTTTCAGACGGTGAG 0.637 Nucleotide excision repair (NER) 8 90 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7578413 7578413 + Missense_Mutation SNP C C T TCGA-XJ-A9DI-01A-11D-A377-08 TCGA-XJ-A9DI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 344706a8-f56a-4d3b-b7f9-97eb0aa3924d 0d12cfa6-26d0-40cd-9278-2fc8f1f81f08 g.chr17:7578413C>T ENST00000420246.2 - 5 649 c.517G>A c.(517-519)Gtg>Atg p.V173M TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 173 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CAGCGCCTCACAACCTCCGTC 0.662 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 4 84 --- --- --- --- WNK4 65266 broad.mit.edu 37 17 40937388 40937388 + Missense_Mutation SNP T T C TCGA-XJ-A9DI-01A-11D-A377-08 TCGA-XJ-A9DI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 344706a8-f56a-4d3b-b7f9-97eb0aa3924d 0d12cfa6-26d0-40cd-9278-2fc8f1f81f08 g.chr17:40937388T>C ENST00000246914.5 + 6 1385 c.1364T>C c.(1363-1365)cTc>cCc p.L455P WNK4_ENST00000587705.1_3'UTR NM_032387.4 NP_115763.2 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 455 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) GGCCTCAAGCTCTGGCTGCGC 0.711 5 11 --- --- --- --- MCAT 27349 broad.mit.edu 37 22 43529100 43529100 + Silent SNP C C T TCGA-XJ-A9DI-01A-11D-A377-08 TCGA-XJ-A9DI-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 344706a8-f56a-4d3b-b7f9-97eb0aa3924d 0d12cfa6-26d0-40cd-9278-2fc8f1f81f08 g.chr22:43529100C>T ENST00000290429.6 - 4 1167 c.1122G>A c.(1120-1122)gtG>gtA p.V374V MCAT_ENST00000327555.5_3'UTR NM_173467.4 NP_775738.3 Q8IVS2 FABD_HUMAN malonyl CoA:ACP acyltransferase (mitochondrial) fatty acid biosynthetic process mitochondrion [acyl-carrier-protein] S-malonyltransferase activity|binding breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1) 11 Ovarian(80;0.0694) GGGTCTGCAGCACATCCACGG 0.612 14 199 --- --- --- ---