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 PTPN14 5784 broad.mit.edu 37 1 214557344 214557344 + Silent SNP A A G TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chr1:214557344A>G uc001hkk.1 - 13 2125 c.1854T>C c.(1852-1854)CAT>CAC p.H618H PTPN14_uc010pty.1_Silent_p.H519H NM_005401 NP_005392 Q15678 PTN14_HUMAN protein tyrosine phosphatase, non-receptor type 618 lymphangiogenesis cytoplasm|cytoskeleton protein tyrosine phosphatase activity|receptor tyrosine kinase binding breast(2)|ovary(1)|kidney(1)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155) GGAGAGACTGATGAACCACCG 0.632000 NECAP1 25977 broad.mit.edu 37 12 8245589 8245589 + Missense_Mutation SNP C C T TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chr12:8245589C>T uc001qtx.2 + 6 692 c.614C>T c.(613-615)GCC>GTC p.A205V NECAP1_uc001qty.2_Missense_Mutation_p.A63V NM_015509 NP_056324 Q8NC96 NECP1_HUMAN NECAP endocytosis associated 1 205 endocytosis|protein transport clathrin coated vesicle membrane|plasma membrane ovary(1) 1 Kidney(36;0.0915) TCCTCAGTTGCCATCAGCAAT 0.517000 BEST3 144453 broad.mit.edu 37 12 70049306 70049306 + Missense_Mutation SNP T T G TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chr12:70049306T>G uc001svg.2 - 10 1615 c.1388A>C c.(1387-1389)CAC>CCC p.H463P BEST3_uc001svd.1_Intron|BEST3_uc001sve.1_Intron|BEST3_uc001svf.2_Missense_Mutation_p.H250P|BEST3_uc010stm.1_Missense_Mutation_p.H357P NM_032735 NP_116124 Q8N1M1 BEST3_HUMAN vitelliform macular dystrophy 2-like 3 isoform 463 Cytoplasmic (Potential). chloride channel complex|plasma membrane chloride channel activity 0 Breast(13;2.31e-06)|Esophageal squamous(21;0.187) Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694) CATGCTGAAGTGCAGCGTGGG 0.587000 RIMBP2 23504 broad.mit.edu 37 12 130919389 130919389 + Missense_Mutation SNP C C T TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chr12:130919389C>T uc001uil.2 - 11 2256 c.2092G>A c.(2092-2094)GCG>ACG p.A698T RIMBP2_uc001uim.2_Missense_Mutation_p.A606T|RIMBP2_uc001uin.1_Missense_Mutation_p.A357T NM_015347 NP_056162 O15034 RIMB2_HUMAN RIM-binding protein 2 698 cell junction|synapse upper_aerodigestive_tract(3)|ovary(3)|large_intestine(2)|central_nervous_system(2)|pancreas(1) 11 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) TACTGCCCCGCGCTGCTTCTC 0.592000 ATP8A2 51761 broad.mit.edu 37 13 26343262 26343262 + Silent SNP C C T TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chr13:26343262C>T uc001uqk.2 + 26 2605 c.2463C>T c.(2461-2463)GAC>GAT p.D821D ATP8A2_uc010tdi.1_Silent_p.D781D|ATP8A2_uc010tdj.1_RNA|ATP8A2_uc010aaj.1_Silent_p.D371D NM_016529 NP_057613 Q9NTI2 AT8A2_HUMAN ATPase, aminophospholipid transporter-like, 781 Cytoplasmic (Potential). Magnesium (By similarity). ATP biosynthetic process|negative regulation of cell proliferation integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity ovary(2)|large_intestine(1)|skin(1) 4 Breast(139;0.0201)|Lung SC(185;0.0225) all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079) CCATCGGAGACGGCGCCAACG 0.557000 FTO 79068 broad.mit.edu 37 16 53860211 53860211 + Missense_Mutation SNP G G C TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chr16:53860211G>C uc002ehr.2 + 3 781 c.559G>C c.(559-561)GGA>CGA p.G187R FTO_uc010vha.1_Intron NM_001080432 NP_001073901 Q9C0B1 FTO_HUMAN fat mass and obesity associated 187 Fe2OG dioxygenase domain. DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair nucleus DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 ATCCTACAACGGACAAGATGA 0.448000 CDH3 1001 broad.mit.edu 37 16 68718494 68718494 + Missense_Mutation SNP T T A TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chr16:68718494T>A uc002ewf.2 + 10 2323 c.1191T>A c.(1189-1191)GAT>GAA p.D397E CDH3_uc010vli.1_Missense_Mutation_p.D342E NM_001793 NP_001784 P22223 CADH3_HUMAN cadherin 3, type 1 preproprotein 397 Extracellular (Potential).|Cadherin 3. adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception integral to membrane calcium ion binding p.?(1) ovary(3)|breast(1)|skin(1) 5 Ovarian(137;0.0564) OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384) AGGGTTTGGATTTTGAGGCCA 0.517000 ABCA7 10347 broad.mit.edu 37 19 1042792 1042792 + Silent SNP C C T TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chr19:1042792C>T uc002lqw.3 + 7 777 c.546C>T c.(544-546)AGC>AGT p.S182S ABCA7_uc010dsb.1_Silent_p.S44S NM_019112 NP_061985 Q8IZY2 ABCA7_HUMAN ATP-binding cassette, sub-family A, member 7 182 Extracellular (By similarity). phagocytosis|transmembrane transport ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane ATP binding|ATPase activity|transporter activity pancreas(7)|ovary(1)|central_nervous_system(1) 9 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTTGCACAGCTTGTTGGAGG 0.632000 CRX 1406 broad.mit.edu 37 19 48342758 48342758 + Missense_Mutation SNP C C A TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chr19:48342758C>A uc002phq.3 + 4 638 c.434C>A c.(433-435)CCT>CAT p.P145H NM_000554 NP_000545 O43186 CRX_HUMAN cone-rod homeobox protein 145 organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) TACAGTCCCCCTCTGCCCGGC 0.672000 U2AF1 7307 broad.mit.edu 37 21 44524474 44524474 + Missense_Mutation SNP C C T TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chr21:44524474C>T uc002zda.1 - 2 167 c.83G>A c.(82-84)CGT>CAT p.R28H U2AF1_uc002zcy.1_5'UTR|U2AF1_uc002zcz.1_5'UTR|U2AF1_uc002zdb.1_Missense_Mutation_p.R28H|U2AF1_uc010gpi.1_Missense_Mutation_p.R28H|U2AF1_uc002zdc.1_Missense_Mutation_p.R28H NM_001025203 NP_001020374 Q01081 U2AF1_HUMAN U2 small nuclear RNA auxillary factor 1 isoform 28 C3H1-type 1. mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription Cajal body|catalytic step 2 spliceosome|nuclear speck nucleotide binding|RNA binding|zinc ion binding 0 GTCTCCATGACGACATGCTCC 0.363000 CNTN6 27255 broad.mit.edu 37 3 1427322 1427322 + Missense_Mutation SNP G G A TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chr3:1427322G>A uc003boz.2 + 20 2812 c.2545G>A c.(2545-2547)GAA>AAA p.E849K CNTN6_uc011asj.1_Missense_Mutation_p.E777K|CNTN6_uc003bpa.2_Missense_Mutation_p.E849K NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 849 Fibronectin type-III 3. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) TGACTCCAAAGAATCCATGAT 0.348000 BAP1 8314 broad.mit.edu 37 3 52440318 52440318 + Missense_Mutation SNP A A G TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chr3:52440318A>G uc003ddx.2 - 9 849 c.734T>C c.(733-735)CTG>CCG p.L245P BAP1_uc003ddw.2_5'Flank|BAP1_uc010hmg.2_5'Flank|BAP1_uc010hmh.2_5'Flank NM_004656 NP_004647 Q92560 BAP1_HUMAN BRCA1 associated protein-1 245 monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process cytoplasm|nucleolus|PR-DUB complex chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity pleura(32)|eye(28)|lung(2)|ovary(2)|breast(1) 65 BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277) CAGCACATGCAGCCTGGCCTC 0.607000 N|Mis|F|S|O uveal melanoma|breast|NSCLC PAK2 5062 broad.mit.edu 37 3 196534697 196534697 + Silent SNP T T C TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chr3:196534697T>C uc003fwy.3 + 7 943 c.621T>C c.(619-621)GGT>GGC p.G207G NM_002577 NP_002568 Q13177 PAK2_HUMAN p21-activated kinase 2 207 axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity ovary(1)|lung(1) 2 all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135) Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00405) CACCAGTTGGTGATTCACATG 0.373000 F11 2160 broad.mit.edu 37 4 187197452 187197452 + Silent SNP C C T rs142846329 byFrequency TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chr4:187197452C>T uc003iza.1 + 7 996 c.663C>T c.(661-663)CCC>CCT p.P221P NM_000128 NP_000119 P03951 FA11_HUMAN coagulation factor XI precursor 221 Apple 3. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity 0 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) TCATGGCTCCCGATGCTTTTG 0.478000 SNX18 112574 broad.mit.edu 37 5 53815333 53815333 + Silent SNP C C T rs151150635 TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chr5:53815333C>T uc003jpj.3 + 1 1741 c.1551C>T c.(1549-1551)CCC>CCT p.P517P SNX18_uc011cqg.1_Silent_p.P517P|SNX18_uc003jpi.3_Silent_p.P517P NM_052870 NP_443102 Q96RF0 SNX18_HUMAN sorting nexin 18 isoform b 517 BAR. cell communication|endocytosis|positive regulation of GTPase activity|protein transport endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane phosphatidylinositol binding|protein binding 0 Lung NSC(810;3.46e-05)|Breast(144;0.102) ACCTGGATCCCGTCATGGACC 0.577000 CAP2 10486 broad.mit.edu 37 6 17421835 17421835 + Missense_Mutation SNP C C T TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chr6:17421835C>T uc003ncb.2 + 2 292 c.49C>T c.(49-51)CGC>TGC p.R17C CAP2_uc010jpk.1_RNA|CAP2_uc011dja.1_Missense_Mutation_p.R17C|CAP2_uc011djb.1_Missense_Mutation_p.R17C|CAP2_uc011djc.1_Missense_Mutation_p.R17C|CAP2_uc011djd.1_Missense_Mutation_p.R17C NM_006366 NP_006357 P40123 CAP2_HUMAN adenylyl cyclase-associated protein 2 17 activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction plasma membrane actin binding ovary(1) 1 Breast(50;0.0333)|Ovarian(93;0.0386) all_hematologic(90;0.0466) all cancers(50;0.194)|Epithelial(50;0.227) AGCTGTCAGCCGCCTGGAGTC 0.562000 KHDRBS2 202559 broad.mit.edu 37 6 62407141 62407141 + Missense_Mutation SNP T T C TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chr6:62407141T>C uc003peg.2 - 8 1158 c.911A>G c.(910-912)GAC>GGC p.D304G NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 304 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) ATGACCGTAGTCATAGTATTC 0.383000 SLCO5A1 81796 broad.mit.edu 37 8 70744581 70744581 + Missense_Mutation SNP C C T rs34148850 byFrequency TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chr8:70744581C>T uc003xyl.2 - 2 1035 c.328G>A c.(328-330)GCC>ACC p.A110T SLCO5A1_uc010lzb.2_Missense_Mutation_p.A110T|SLCO5A1_uc011lfa.1_RNA|SLCO5A1_uc003xyk.2_Missense_Mutation_p.A110T|SLCO5A1_uc010lzc.2_Missense_Mutation_p.A110T NM_030958 NP_112220 Q9H2Y9 SO5A1_HUMAN solute carrier organic anion transporter family, 110 Cytoplasmic (Potential). integral to membrane|plasma membrane transporter activity ovary(3)|upper_aerodigestive_tract(1) 4 Breast(64;0.0654) Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594) ATGGCCAAGGCGGAGGACACC 0.617000 OREG0018815 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ADCY8 114 broad.mit.edu 37 8 131916177 131916177 + Silent SNP A A C TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chr8:131916177A>C uc003ytd.3 - 7 2008 c.1752T>G c.(1750-1752)ACT>ACG p.T584T ADCY8_uc010mds.2_Silent_p.T584T NM_001115 NP_001106 P40145 ADCY8_HUMAN adenylate cyclase 8 584 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport integral to membrane|membrane fraction|plasma membrane ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding skin(4)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000538) TAATTAAGTAAGTTTCGATAT 0.483000 HNSCC(32;0.087) TNC 3371 broad.mit.edu 37 9 117840372 117840372 + Missense_Mutation SNP C C T TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chr9:117840372C>T uc004bjj.3 - 7 2886 c.2524G>A c.(2524-2526)GTG>ATG p.V842M TNC_uc010mvf.2_Missense_Mutation_p.V842M NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 842 Fibronectin type-III 3. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 TCTCCTGGCACGTCTTTGATG 0.547000 MAGEB3 4114 broad.mit.edu 37 X 30254145 30254145 + Missense_Mutation SNP A A G TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chrX:30254145A>G uc004dca.1 + 5 841 c.104A>G c.(103-105)AAG>AGG p.K35R NM_002365 NP_002356 O15480 MAGB3_HUMAN melanoma antigen family B, 3 35 0 GCAACTAACAAGAAAAAAGTA 0.517000 MMGT1 93380 broad.mit.edu 37 X 135049608 135049608 + Silent SNP A A G TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chrX:135049608A>G uc004ezi.1 - 3 477 c.177T>C c.(175-177)GGT>GGC p.G59G MMGT1_uc011mvw.1_Silent_p.G124G NM_173470 NP_775741 Q8N4V1 MMGT1_HUMAN membrane magnesium transporter 1 precursor 59 Helical; (Potential). early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane magnesium ion transmembrane transporter activity 0 TATGAACTATACCGTAACAGG 0.323000 FBN3 84467 broad.mit.edu 37 19 8212045 8212045 + Frame_Shift_Del DEL G G - TCGA-BR-8371-01A-11D-2340-08 TCGA-BR-8371-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8509693c-ad35-4c24-80de-f84ae07fe87e be24ceb1-6f72-48d3-8dc9-7649fd72609f g.chr19:8212045delG uc002mjf.2 - 2 214 c.193delC c.(193-195)CATfs p.H65fs NM_032447 NP_115823 Q75N90 FBN3_HUMAN fibrillin 3 precursor 65 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(6)|skin(3)|pancreas(1)|central_nervous_system(1) 11 CAGTAGGCATGGAACCGGGAG 0.677