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 KIF1B 23095 broad.mit.edu 37 1 10394612 10394612 + Missense_Mutation SNP G G A TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr1:10394612G>A uc001aqx.3 + 28 3161 c.2959G>A c.(2959-2961)GTG>ATG p.V987M KIF1B_uc001aqw.3_Missense_Mutation_p.V941M|KIF1B_uc001aqy.2_Missense_Mutation_p.V961M|KIF1B_uc001aqz.2_Missense_Mutation_p.V987M|KIF1B_uc001ara.2_Missense_Mutation_p.V947M|KIF1B_uc001arb.2_Missense_Mutation_p.V973M NM_015074 NP_055889 O60333 KIF1B_HUMAN kinesin family member 1B isoform b 987 anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding ovary(2)|upper_aerodigestive_tract(1) 3 Ovarian(185;0.203) all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642) GCTGTATCCCGTGCCCCTGAT 0.512000 EFCAB7 84455 broad.mit.edu 37 1 64021086 64021086 + Missense_Mutation SNP A A G TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr1:64021086A>G uc001dbf.2 + 9 1408 c.1114A>G c.(1114-1116)ACT>GCT p.T372A NM_032437 NP_115813 A8K855 EFCB7_HUMAN EF-hand calcium binding domain 7 372 calcium ion binding 0 TCCTTCCACAACTGGCTGTAG 0.358000 COL11A1 1301 broad.mit.edu 37 1 103352525 103352525 + Missense_Mutation SNP C C A TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr1:103352525C>A uc001dul.2 - 63 5014 c.4696G>T c.(4696-4698)GAT>TAT p.D1566Y COL11A1_uc001duk.2_Missense_Mutation_p.D762Y|COL11A1_uc001dum.2_Missense_Mutation_p.D1578Y|COL11A1_uc001dun.2_Missense_Mutation_p.D1527Y|COL11A1_uc009weh.2_Missense_Mutation_p.D1450Y NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 1566 collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) ATATTATCATCTGCATCTGCT 0.398000 AMY2B 280 broad.mit.edu 37 1 104120221 104120221 + Missense_Mutation SNP G G A TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr1:104120221G>A uc001duq.2 + 10 1827 c.1211G>A c.(1210-1212)CGC>CAC p.R404H AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Missense_Mutation_p.R404H|AMY2B_uc001dus.1_RNA NM_020978 NP_066188 P19961 AMY2B_HUMAN amylase, pancreatic, alpha-2B precursor 404 carbohydrate metabolic process|digestion extracellular region alpha-amylase activity|metal ion binding 0 all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451) Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112) CATCGATGGCGCCAAATAAGG 0.343000 TNN 63923 broad.mit.edu 37 1 175046731 175046731 + Silent SNP C C T TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr1:175046731C>T uc001gkl.1 + 2 290 c.177C>T c.(175-177)GAC>GAT p.D59D TNN_uc010pmx.1_Silent_p.D59D NM_022093 NP_071376 Q9UQP3 TENN_HUMAN tenascin N precursor 59 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix large_intestine(5)|ovary(3)|central_nervous_system(1) 9 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) TTCAGGTTGACGCTGACCCTC 0.597000 ASTN1 460 broad.mit.edu 37 1 176999973 176999973 + Silent SNP G G A TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr1:176999973G>A uc001glc.2 - 4 1193 c.981C>T c.(979-981)AGC>AGT p.S327S ASTN1_uc001glb.1_Silent_p.S327S|ASTN1_uc001gld.1_Silent_p.S327S|ASTN1_uc009wwx.1_Silent_p.S327S|ASTN1_uc001gle.3_RNA|MIR488_hsa-mir-488|MI0003123_5'Flank NM_004319 NP_004310 O14525 ASTN1_HUMAN astrotactin isoform 1 327 cell migration|neuron cell-cell adhesion integral to membrane ovary(6)|skin(5)|central_nervous_system(2)|large_intestine(1)|lung(1) 15 GCTTTCTCTGGCTGCTGGAGG 0.473000 USH2A 7399 broad.mit.edu 37 1 216073486 216073486 + Missense_Mutation SNP G G A TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr1:216073486G>A uc001hku.1 - 40 7912 c.7525C>T c.(7525-7527)CGG>TGG p.R2509W NM_206933 NP_996816 O75445 USH2A_HUMAN usherin isoform B 2509 Extracellular (Potential).|Fibronectin type-III 11. maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound basement membrane|cytoplasm|integral to membrane|stereocilium membrane collagen binding ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1) 26 OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875) GCAACCAACCGAAACATATAC 0.423000 HNSCC(13;0.011) SOX6 55553 broad.mit.edu 37 11 15994601 15994601 + Silent SNP G G A TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr11:15994601G>A uc001mme.2 - 16 2313 c.2280C>T c.(2278-2280)ATC>ATT p.I760I SOX6_uc001mmd.2_Silent_p.I723I|SOX6_uc001mmf.2_Silent_p.I720I|SOX6_uc001mmg.2_Silent_p.I727I NM_001145819 NP_001139291 P35712 SOX6_HUMAN SRY (sex determining region Y)-box 6 isoform 4 747 muscle organ development nucleus sequence-specific DNA binding transcription factor activity ovary(3) 3 TTGCCATAGTGATAGCACCAG 0.502000 RARG 5916 broad.mit.edu 37 12 53607425 53607425 + Silent SNP C C T TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr12:53607425C>T uc001sce.2 - 8 1358 c.873G>A c.(871-873)GGG>GGA p.G291G RARG_uc001scd.2_Silent_p.G280G|RARG_uc010sob.1_Silent_p.G269G|RARG_uc001scf.2_Silent_p.G291G|RARG_uc001scg.2_Silent_p.G219G|RARG_uc010soc.1_Silent_p.G170G|RARG_uc010sod.1_Silent_p.G328G NM_000966 NP_000957 P13631 RARG_HUMAN retinoic acid receptor, gamma isoform 1 291 Ligand-binding. canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid integral to membrane|transcription factor complex retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding breast(2)|ovary(1)|lung(1) 4 Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755) TCAGGGTCAGCCCGTCGGAGA 0.612000 OREG0021862 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ZFC3H1 196441 broad.mit.edu 37 12 72023392 72023392 + Missense_Mutation SNP G G T TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr12:72023392G>T uc001swo.2 - 19 4182 c.3823C>A c.(3823-3825)CAT>AAT p.H1275N NM_144982 NP_659419 O60293 ZC3H1_HUMAN proline/serine-rich coiled-coil 2 1275 RNA processing intracellular metal ion binding ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 5 TACTTACTATGACCTTTACTT 0.264000 WSCD2 9671 broad.mit.edu 37 12 108589947 108589947 + Missense_Mutation SNP G G A TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr12:108589947G>A uc001tms.2 + 2 1082 c.338G>A c.(337-339)CGA>CAA p.R113Q WSCD2_uc001tmt.2_Missense_Mutation_p.R113Q NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 113 integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 GCCTGGAGCCGAGCCCTCAAG 0.597000 CUL4A 8451 broad.mit.edu 37 13 113893752 113893752 + Missense_Mutation SNP G G A TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr13:113893752G>A uc010tjy.1 + 11 933 c.922G>A c.(922-924)GAC>AAC p.D308N CUL4A_uc010tjx.1_Missense_Mutation_p.D208N|CUL4A_uc010agu.2_Missense_Mutation_p.D169N|CUL4A_uc010tjz.1_5'UTR NM_001008895 NP_001008895 Q13619 CUL4A_HUMAN cullin 4A isoform 1 308 cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process Cul4A-RING ubiquitin ligase complex ubiquitin protein ligase binding central_nervous_system(2)|skin(1) 3 Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188) all cancers(43;0.112) CTCAGGGCTCGACCACTTACT 0.557000 HDC 3067 broad.mit.edu 37 15 50540522 50540522 + Missense_Mutation SNP T T C TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr15:50540522T>C uc001zxz.2 - 10 1166 c.1060A>G c.(1060-1062)AGC>GGC p.S354G HDC_uc001zxy.2_Missense_Mutation_p.S97G|HDC_uc010uff.1_Intron NM_002112 NP_002103 P19113 DCHS_HUMAN histidine decarboxylase 354 catecholamine biosynthetic process|histidine metabolic process histidine decarboxylase activity large_intestine(2)|skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 all_lung(180;0.0138) all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05) L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114) AACCGTCGGCTCAGGGGGATC 0.522000 RGS11 8786 broad.mit.edu 37 16 321028 321028 + Missense_Mutation SNP C C T TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr16:321028C>T uc002cgj.1 - 13 937 c.934G>A c.(934-936)GTG>ATG p.V312M RGS11_uc002cgi.1_Missense_Mutation_p.V291M|RGS11_uc010bqs.1_Missense_Mutation_p.V301M|RGS11_uc002cgk.1_Missense_Mutation_p.V128M NM_183337 NP_899180 O94810 RGS11_HUMAN regulator of G-protein signalling 11 isoform 1 312 RGS. G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway cytoplasm|heterotrimeric G-protein complex GTPase activator activity|signal transducer activity lung(1)|pancreas(1) 2 all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186) GCCCGCCCCACGGGGTCCTCC 0.682000 GRIN2A 2903 broad.mit.edu 37 16 9862888 9862888 + Silent SNP G G A TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr16:9862888G>A uc002czo.3 - 12 2963 c.2415C>T c.(2413-2415)AAC>AAT p.N805N GRIN2A_uc010uym.1_Silent_p.N805N|GRIN2A_uc010uyn.1_Silent_p.N648N|GRIN2A_uc002czr.3_Silent_p.N805N NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 805 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCATCACCTCGTTCTTCTCGT 0.552000 OTOA 146183 broad.mit.edu 37 16 21726384 21726384 + Missense_Mutation SNP C C T TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr16:21726384C>T uc002djh.2 + 13 1400 c.1399C>T c.(1399-1401)CGC>TGC p.R467C uc002diq.3_Intron|OTOA_uc010vbj.1_Missense_Mutation_p.R388C|OTOA_uc002dji.2_Missense_Mutation_p.R143C|OTOA_uc010vbk.1_Missense_Mutation_p.R115C NM_144672 NP_653273 Q7RTW8 OTOAN_HUMAN otoancorin isoform 1 481 sensory perception of sound anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix ovary(1)|central_nervous_system(1)|skin(1) 3 GBM - Glioblastoma multiforme(48;0.0414) CAGCATGAAACGCAAGGACAT 0.582000 SPNS1 83985 broad.mit.edu 37 16 28993708 28993708 + Missense_Mutation SNP G G A TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr16:28993708G>A uc010vdi.1 + 9 1137 c.997G>A c.(997-999)GGA>AGA p.G333R uc010vct.1_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.G260R|SPNS1_uc002dsa.2_Missense_Mutation_p.G333R|SPNS1_uc002drz.2_Missense_Mutation_p.G281R|SPNS1_uc010byp.2_Missense_Mutation_p.G259R|SPNS1_uc010byq.1_Missense_Mutation_p.G265R|LAT_uc010vdj.1_5'Flank|LAT_uc002dsb.2_5'Flank|LAT_uc002dsd.2_5'Flank|LAT_uc002dsc.2_5'Flank|LAT_uc010vdk.1_5'Flank|LAT_uc010vdl.1_5'Flank NM_001142448 NP_001135920 Q9H2V7 SPNS1_HUMAN spinster homolog 1 isoform 1 333 Helical; (Potential). lipid transport|transmembrane transport integral to membrane|mitochondrial inner membrane protein binding 0 CTGCCTGACCGGAGTCCTGGG 0.652000 BCKDK 10295 broad.mit.edu 37 16 31122413 31122413 + Missense_Mutation SNP C C T TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr16:31122413C>T uc002eaw.3 + 9 1034 c.718C>T c.(718-720)CGC>TGC p.R240C BCKDK_uc002eav.3_Missense_Mutation_p.R240C|BCKDK_uc010cah.2_RNA|BCKDK_uc010cai.2_Missense_Mutation_p.R240C NM_005881 NP_005872 O14874 BCKD_HUMAN branched chain ketoacid dehydrogenase kinase 240 Histidine kinase. branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation mitochondrial alpha-ketoglutarate dehydrogenase complex [3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity stomach(1)|breast(1) 2 TATCCGCAGACGCCTGTGTGA 0.433000 KRT37 8688 broad.mit.edu 37 17 39580071 39580071 + Missense_Mutation SNP G G A TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr17:39580071G>A uc002hwp.1 - 2 565 c.518C>T c.(517-519)GCC>GTC p.A173V uc002hwo.1_RNA NM_003770 NP_003761 O76014 KRT37_HUMAN keratin 37 173 Rod.|Coil 1B. intermediate filament structural molecule activity skin(1) 1 Breast(137;0.000496) AATCAGCCTGGCATTCTCAGC 0.403000 NLRP5 126206 broad.mit.edu 37 19 56539525 56539525 + Silent SNP C C T TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr19:56539525C>T uc002qmj.2 + 7 1926 c.1926C>T c.(1924-1926)AGC>AGT p.S642S NLRP5_uc002qmi.2_Silent_p.S623S NM_153447 NP_703148 P59047 NALP5_HUMAN NACHT, LRR and PYD containing protein 5 642 mitochondrion|nucleolus ATP binding ovary(3)|skin(2)|kidney(1)|central_nervous_system(1) 7 Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157) GBM - Glioblastoma multiforme(193;0.0326) GCCTCGTGAGCGAAGACGTAA 0.557000 PLB1 151056 broad.mit.edu 37 2 28785965 28785965 + Missense_Mutation SNP C C T TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr2:28785965C>T uc002rmb.1 + 18 1205 c.1205C>T c.(1204-1206)ACG>ATG p.T402M PLB1_uc010ezj.1_Missense_Mutation_p.T413M|PLB1_uc002rmc.2_Missense_Mutation_p.T90M NM_153021 NP_694566 Q6P1J6 PLB1_HUMAN phospholipase B1 precursor 402 4 X 308-326 AA approximate repeats.|2.|Extracellular (Potential). lipid catabolic process|retinoid metabolic process|steroid metabolic process apical plasma membrane|integral to membrane lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity ovary(4)|large_intestine(2)|skin(2)|breast(1) 9 Acute lymphoblastic leukemia(172;0.155) GACTCTCTCACGGTAAGTGAC 0.502000 KRTAP10-10 353333 broad.mit.edu 37 21 46057679 46057679 + Silent SNP C C T TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr21:46057679C>T uc002zfq.2 + 1 407 c.345C>T c.(343-345)TTC>TTT p.F115F C21orf29_uc002zfe.1_Intron|C21orf29_uc010gpv.1_Intron NM_181688 NP_859016 P60014 KR10A_HUMAN keratin associated protein 10-10 115 15 X 5 AA repeats of C-C-X(3). keratin filament 0 ctgtgtgcttcgtgcctacct 0.343000 MCM2 4171 broad.mit.edu 37 3 127340016 127340016 + Missense_Mutation SNP G G A TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr3:127340016G>A uc003ejp.2 + 15 2606 c.2549G>A c.(2548-2550)CGC>CAC p.R850H MCM2_uc011bkm.1_Missense_Mutation_p.R720H|MCM2_uc010hsl.2_RNA|MCM2_uc011bkn.1_Missense_Mutation_p.R803H NM_004526 NP_004517 P49736 MCM2_HUMAN minichromosome maintenance complex component 2 850 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle chromatin|MCM complex ATP binding|helicase activity|metal ion binding ovary(3)|skin(1) 4 CAGCGCAACCGCTTTGGGGCC 0.542000 SH3TC1 54436 broad.mit.edu 37 4 8235216 8235216 + Silent SNP C C T TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr4:8235216C>T uc003gkv.3 + 14 3359 c.3258C>T c.(3256-3258)AGC>AGT p.S1086S SH3TC1_uc003gkw.3_Silent_p.S1010S|SH3TC1_uc003gkx.3_RNA|SH3TC1_uc003gky.2_RNA NM_018986 NP_061859 Q8TE82 S3TC1_HUMAN SH3 domain and tetratricopeptide repeats 1 1086 binding large_intestine(2)|pancreas(1) 3 TGCGGCAGAGCGAGCTGGTGG 0.527000 PCDHA13 56136 broad.mit.edu 37 5 140263466 140263466 + Missense_Mutation SNP G G A TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr5:140263466G>A uc003lif.2 + 1 1613 c.1613G>A c.(1612-1614)CGC>CAC p.R538H PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.R538H|PCDHA13_uc003lid.2_Missense_Mutation_p.R538H NM_018904 NP_061727 Q9Y5I0 PCDAD_HUMAN protocadherin alpha 13 isoform 1 precursor 538 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GTGAGCGCGCGCGACTCTGGC 0.682000 OR2J3 442186 broad.mit.edu 37 6 29079853 29079853 + Missense_Mutation SNP G G A TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr6:29079853G>A uc011dll.1 + 1 186 c.186G>A c.(184-186)ATG>ATA p.M62I NM_001005216 NP_001005216 O76001 OR2J3_HUMAN olfactory receptor, family 2, subfamily J, 62 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 ACACACCAATGTACTTCTTCC 0.458000 PPT2 9374 broad.mit.edu 37 6 32123534 32123534 + Missense_Mutation SNP C C T TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr6:32123534C>T uc003nzx.2 + 4 975 c.407C>T c.(406-408)TCC>TTC p.S136F PRRT1_uc003nzu.2_5'Flank|uc003nzv.3_5'Flank|PPT2_uc003nzw.2_Missense_Mutation_p.S142F|PPT2_uc011dpi.1_RNA|PPT2_uc003nzy.1_RNA|PPT2_uc003nzz.2_Missense_Mutation_p.S136F|PPT2_uc003oaa.2_Missense_Mutation_p.S136F|PPT2_uc010jtu.1_Missense_Mutation_p.S136F NM_005155 NP_005146 Q9UMR5 PPT2_HUMAN palmitoyl-protein thioesterase 2 isoform a 136 protein modification process lysosome palmitoyl-(protein) hydrolase activity 0 ATCTCCCTCTCCTCTCCACAG 0.527000 RPS6KA2 6196 broad.mit.edu 37 6 166844008 166844008 + Missense_Mutation SNP G G A rs145694057 TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr6:166844008G>A uc003qvb.1 - 16 1733 c.1514C>T c.(1513-1515)TCG>TTG p.S505L RPS6KA2_uc011ego.1_Missense_Mutation_p.S416L|RPS6KA2_uc010kkl.1_Missense_Mutation_p.S416L|RPS6KA2_uc003qvc.1_Missense_Mutation_p.S513L|RPS6KA2_uc003qvd.1_Missense_Mutation_p.S530L NM_021135 NP_066958 Q15349 KS6A2_HUMAN ribosomal protein S6 kinase, 90kDa, polypeptide 505 Protein kinase 2. axon guidance|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(2)|lung(2)|skin(2)|large_intestine(1)|central_nervous_system(1) 8 Breast(66;2.04e-05)|Ovarian(120;0.0652)|Prostate(117;0.105) OV - Ovarian serous cystadenocarcinoma(33;2.76e-18)|GBM - Glioblastoma multiforme(31;9.94e-06)|BRCA - Breast invasive adenocarcinoma(81;1.36e-05) TTCGCGCTCCGAGAAGTATCT 0.597000 LMTK2 22853 broad.mit.edu 37 7 97766742 97766742 + Missense_Mutation SNP A A C TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr7:97766742A>C uc003upd.1 + 2 512 c.219A>C c.(217-219)GAA>GAC p.E73D NM_014916 NP_055731 Q8IWU2 LMTK2_HUMAN lemur tyrosine kinase 2 precursor 73 early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity lung(9)|stomach(3)|pancreas(2)|large_intestine(1)|breast(1) 16 all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125) AGGACCCAGAAATAGACTTTA 0.368000 NUP205 23165 broad.mit.edu 37 7 135307616 135307616 + Silent SNP C C T rs144174512 TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr7:135307616C>T uc003vsw.2 + 31 4453 c.4422C>T c.(4420-4422)GGC>GGT p.G1474G NUP205_uc003vsx.2_RNA NM_015135 NP_055950 Q92621 NU205_HUMAN nucleoporin 205kDa 1474 carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction nuclear pore protein binding ovary(3)|breast(1)|central_nervous_system(1)|skin(1) 6 AAAGTTATGGCGCCGCCCTCA 0.398000 AMAC1L2 83650 broad.mit.edu 37 8 11189042 11189042 + Missense_Mutation SNP G G A rs142654795 byFrequency TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr8:11189042G>A uc003wtp.1 + 1 548 c.427G>A c.(427-429)GCT>ACT p.A143T NM_054028 NP_473369 Q96KT7 AMCL2_HUMAN acyl-malonyl condensing enzyme 143 DUF6 1. integral to membrane 0 STAD - Stomach adenocarcinoma(15;0.00676) COAD - Colon adenocarcinoma(149;0.0563) CGTATGCTCCGCTGTCCTCAC 0.582000 TAF1L 138474 broad.mit.edu 37 9 32630718 32630718 + Silent SNP G G A TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr9:32630718G>A uc003zrg.1 - 1 4950 c.4860C>T c.(4858-4860)TAC>TAT p.Y1620Y uc003zrh.1_5'Flank NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1620 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TAATTGTCTGGTAACAGATGT 0.393000 FRMPD1 22844 broad.mit.edu 37 9 37711391 37711391 + Missense_Mutation SNP C C T TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr9:37711391C>T uc004aag.1 + 5 451 c.407C>T c.(406-408)TCG>TTG p.S136L FRMPD1_uc004aah.1_Missense_Mutation_p.S136L NM_014907 NP_055722 Q5SYB0 FRPD1_HUMAN FERM and PDZ domain containing 1 136 cytoskeleton|cytosol|plasma membrane ovary(4)|central_nervous_system(2)|skin(2)|breast(1) 9 GBM - Glioblastoma multiforme(29;0.00655) CGCTGCACGTCGGTAAATCTC 0.438000 TNC 3371 broad.mit.edu 37 9 117808747 117808747 + Missense_Mutation SNP T T G TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr9:117808747T>G uc004bjj.3 - 17 5429 c.5067A>C c.(5065-5067)GAA>GAC p.E1689D TNC_uc010mvf.2_Intron NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1689 Fibronectin type-III 12. 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 TTCCATAGAGTTCAATTTCGT 0.443000 SLC9A6 10479 broad.mit.edu 37 X 135084305 135084305 + Missense_Mutation SNP G G T TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chrX:135084305G>T uc004ezj.2 + 6 812 c.736G>T c.(736-738)GTT>TTT p.V246F SLC9A6_uc004ezk.2_Missense_Mutation_p.V278F|SLC9A6_uc011mvx.1_Missense_Mutation_p.V226F NM_006359 NP_006350 Q92581 SL9A6_HUMAN solute carrier family 9 (sodium/hydrogen 246 Helical; (Potential). regulation of pH early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane sodium:hydrogen antiporter activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) TCAAGTTGATGTTGAACTCTA 0.353000 CHRM3 1131 broad.mit.edu 37 1 239549887 239549887 + RNA DEL G G - TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr1:239549887delG uc001hyo.1 + 1 c.23delG P20309 ACM3_HUMAN Homo sapiens clone N10 NTera2D1 teratocarcinoma, m3 muscarinic acetylcholine receptor mRNA, partial cds. cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CTCTCAGTCCGGggaggagga 0.493 CHRM3 1131 broad.mit.edu 37 1 239549887 239549887 + RNA DEL G G - TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr1:239549887delG uc001hyo.1 + 1 c.23delG P20309 ACM3_HUMAN Homo sapiens clone N10 NTera2D1 teratocarcinoma, m3 muscarinic acetylcholine receptor mRNA, partial cds. cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity ovary(4)|skin(1) 5 Ovarian(103;0.127) all_cancers(173;0.00567)|all_neural(198;0.203) OV - Ovarian serous cystadenocarcinoma(106;0.00989) Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505) CTCTCAGTCCGGggaggagga 0.493 CDH1 999 broad.mit.edu 37 16 68842723 68842725 + In_Frame_Del DEL TGG TGG - TCGA-BR-4187-01A-01D-1126-08 TCGA-BR-4187-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx 0b45eb56-8286-4094-8bff-d0cf5c05cda9 30a6f1ff-df78-470a-b645-0e46c00252d8 g.chr16:68842722_68842724CTGG>C uc002ewg.1 + 4 782_784 c.658_660CTGG>C c.(658-660)ctg>C p.L220del CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_In_Frame_Del_p.L220del NM_004360 NP_004351 P12830 CADH1_HUMAN Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA. 220 Cadherin 1. adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response Golgi apparatus|actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(2) NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3) 311 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) GACAGAGCCTCTGGATAGAGAAC 0.473 """Mis, N, F, S""" """lobular breast, gastric""" gastric Hereditary Diffuse Gastric Cancer