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 THAP3 90326 broad.mit.edu 37 1 6692962 6692962 + Missense_Mutation SNP T C C TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr1:6692962T>C uc001aoc.2 + 6 704 c.545T>C c.(544-546)CTT>CCT p.L182P THAP3_uc001aod.2_Missense_Mutation_p.L181P|THAP3_uc001aoe.1_Intron Q8WTV1 THAP3_HUMAN RecName: Full=THAP domain-containing protein 3; 182 DNA binding|metal ion binding 0 Ovarian(185;0.0212)|all_lung(157;0.154) all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156) Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642) AGCTATGCCCTTTTGGACTTA 0.567 NOTCH2 4853 broad.mit.edu 37 1 120512286 120512286 + Missense_Mutation SNP T C C rs144936899 TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr1:120512286T>C uc001eik.2 - 6 1212 c.956A>G c.(955-957)AAT>AGT p.N319S NOTCH2_uc001eil.2_Missense_Mutation_p.N319S|NOTCH2_uc001eim.3_Missense_Mutation_p.N236S NM_024408 NP_077719 Q04721 NOTC2_HUMAN notch 2 preproprotein 319 Extracellular (Potential).|EGF-like 8; calcium-binding (Potential). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity lung(8)|haematopoietic_and_lymphoid_tissue(7)|ovary(4)|central_nervous_system(2)|skin(2)|kidney(2)|breast(1)|prostate(1) 27 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ATAGCCTCCATTGCGGTTGGC 0.532 N|F|Mis marginal zone lymphoma|DLBCL Alagille_Syndrome NBPF10 100132406 broad.mit.edu 37 1 145293478 145293478 + Missense_Mutation SNP C T T TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr1:145293478C>T uc001end.3 + 1 108 c.73C>T c.(73-75)CGC>TGC p.R25C NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|NBPF10_uc001emp.3_Missense_Mutation_p.R25C|NOTCH2NL_uc010oyh.1_RNA|NBPF10_uc001emq.1_Missense_Mutation_p.R25C NM_001039703 NP_001034792 A6NDV3 A6NDV3_HUMAN hypothetical protein LOC100132406 25 0 all_hematologic(923;0.032) Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258) CGAGACATTGCGCCCCCAGCT 0.502 TCHH 7062 broad.mit.edu 37 1 152081317 152081317 + Missense_Mutation SNP C T T TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr1:152081317C>T uc001ezp.2 - 2 4376 c.4376G>A c.(4375-4377)CGT>CAT p.R1459H TCHH_uc009wne.1_Missense_Mutation_p.R1459H NM_007113 NP_009044 Q07283 TRHY_HUMAN trichohyalin 1459 23 X 26 AA approximate tandem repeats. keratinization cytoskeleton calcium ion binding ovary(3)|kidney(1)|central_nervous_system(1) 5 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TTTTCTGTGACGCTCCTGGCG 0.547 PTEN 5728 broad.mit.edu 37 10 89692923 89692923 + Missense_Mutation SNP G A A TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr10:89692923G>A uc001kfb.2 + 6 1438 c.407G>A c.(406-408)TGT>TAT p.C136Y NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 136 Phosphatase tensin-type. C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.C136Y(7)|p.R55fs*1(4)|p.C136F(3)|p.C136fs*1(2)|p.C136R(2)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.I135_A137>T(1)|p.A121_F145del(1)|p.I135fs*6(1)|p.C136_A137insGM(1)|p.C136W(1)|p.T131fs*42(1)|p.F56fs*2(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) GTAATGATATGTGCATATTTA 0.393 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) DUSP8 1850 broad.mit.edu 37 11 1577819 1577820 + Frame_Shift_Del DEL CG - - rs61747093 TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr11:1577819_1577820delCG uc001lts.2 - 7 1934_1935 c.1806_1807delCG c.(1804-1809)CGCGGCfs p.R602fs NM_004420 NP_004411 Q13202 DUS8_HUMAN dual specificity phosphatase 8 602_603 inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity 0 all_epithelial(84;0.000134)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825) AGCTCCTCGCCGCGCGCGCGCC 0.752 OR4C11 219429 broad.mit.edu 37 11 55371120 55371120 + Missense_Mutation SNP C G G TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr11:55371120C>G uc010rii.1 - 1 730 c.730G>C c.(730-732)GTA>CTA p.V244L NM_001004700 NP_001004700 Q6IEV9 OR4CB_HUMAN olfactory receptor, family 4, subfamily C, 244 Helical; Name=6; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 AAGATGACTACAATTATGTGA 0.408 OR5D13 390142 broad.mit.edu 37 11 55541619 55541619 + Missense_Mutation SNP C T T TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr11:55541619C>T uc010ril.1 + 1 706 c.706C>T c.(706-708)CGC>TGC p.R236C NM_001001967 NP_001001967 Q8NGL4 OR5DD_HUMAN olfactory receptor, family 5, subfamily D, 236 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 all_epithelial(135;0.196) TGCAAGTGGGCGCCAGAAAAC 0.408 OR5AS1 219447 broad.mit.edu 37 11 55798503 55798503 + Silent SNP C T T TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr11:55798503C>T uc010riw.1 + 1 609 c.609C>T c.(607-609)TGC>TGT p.C203C NM_001001921 NP_001001921 Q8N127 O5AS1_HUMAN olfactory receptor, family 5, subfamily AS, 203 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|liver(1)|skin(1) 5 Esophageal squamous(21;0.00693) TTGCTTTGTGCAGCTTCATCC 0.423 FADS2 9415 broad.mit.edu 37 11 61615699 61615699 + Silent SNP G A A TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr11:61615699G>A uc001nsl.1 + 5 837 c.687G>A c.(685-687)AAG>AAA p.K229K FADS2_uc001nsj.2_Silent_p.K207K|FADS2_uc010rlo.1_Silent_p.K198K|FADS2_uc001nsk.2_Silent_p.K229K NM_004265 NP_004256 O95864 FADS2_HUMAN fatty acid desaturase 2 229 Cytoplasmic (Potential). electron transport chain|transport|unsaturated fatty acid biosynthetic process endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction heme binding ovary(1)|pancreas(1) 2 Alpha-Linolenic Acid(DB00132) TCTTCCACAAGGATCCCGATG 0.557 VEGFB 7423 broad.mit.edu 37 11 64004662 64004663 + Frame_Shift_Ins INS - A A TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr11:64004662_64004663insA uc001nyw.2 + 5 418_419 c.378_379insA c.(376-381)CCTAAAfs p.P126fs VEGFB_uc001nyx.2_Frame_Shift_Ins_p.P126fs NM_003377 NP_003368 P49765 VEGFB_HUMAN vascular endothelial growth factor B precursor 126_127 anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway extracellular region|extracellular space|membrane|platelet alpha granule lumen chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding 0 TTTTCAGACCTAAAAAAAAGGA 0.386 CWF19L2 143884 broad.mit.edu 37 11 107224390 107224390 + Missense_Mutation SNP G A A rs146937549 by1000genomes TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr11:107224390G>A uc010rvp.1 - 13 1975 c.1945C>T c.(1945-1947)CGT>TGT p.R649C CWF19L2_uc001pjh.3_RNA|CWF19L2_uc009yxo.2_RNA NM_152434 NP_689647 Q2TBE0 C19L2_HUMAN CWF19-like 2, cell cycle control 649 Potential. catalytic activity 0 Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258) Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05) TCACCAAGACGTTCTCTCTCA 0.403 CACNA1C 775 broad.mit.edu 37 12 2795380 2795380 + Missense_Mutation SNP G A A TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr12:2795380G>A uc009zdu.1 + 48 6291 c.5978G>A c.(5977-5979)CGA>CAA p.R1993Q CACNA1C_uc009zdv.1_Missense_Mutation_p.R1907Q|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkc.2_Missense_Mutation_p.R1929Q|CACNA1C_uc001qke.2_Missense_Mutation_p.R1899Q|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1918Q|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1929Q|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1916Q|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1951Q|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1918Q|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1958Q|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qko.2_Missense_Mutation_p.R1930Q|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1927Q|CACNA1C_uc001qku.2_Missense_Mutation_p.R1945Q|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1938Q|CACNA1C_uc001qks.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1929Q|CACNA1C_uc001qki.1_Missense_Mutation_p.R1717Q|CACNA1C_uc001qkj.1_Missense_Mutation_p.R1681Q|CACNA1C_uc001qkk.1_Missense_Mutation_p.R1646Q|CACNA1C_uc001qkm.1_Missense_Mutation_p.R1706Q|CACNA1C_uc010sea.1_Missense_Mutation_p.R601Q|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.R228Q NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1993 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CAGAAGGACCGAGGGGGAGAC 0.582 RB1 5925 broad.mit.edu 37 13 48934208 48934208 + Nonsense_Mutation SNP T A A TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr13:48934208T>A uc001vcb.2 + 7 829 c.663T>A c.(661-663)TGT>TGA p.C221* RB1_uc010acs.1_RNA|RB1_uc010act.1_5'UTR NM_000321 NP_000312 P06400 RB_HUMAN retinoblastoma 1 221 androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation chromatin|PML body|Rb-E2F complex|SWI/SNF complex androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding p.?(5) lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1) 358 all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TAATGCTATGTGTCCTTGACT 0.289 6 D|Mis|N|F|S retinoblastoma|sarcoma|breast|small cell lung retinoblastoma|sarcoma|breast|small cell lung Hereditary_Retinoblastoma TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080) Unknown 0 broad.mit.edu 37 15 22440477 22440477 + Nonsense_Mutation SNP T A A TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr15:22440477T>A uc001yug.2 - 1 389 c.370A>T c.(370-372)AAG>TAG p.K124* full-length cDNA clone CS0DI014YE21 of Placenta Cot 25-normalized of Homo sapiens (human). GCTCCCTTCTTGCAGCCCAGG 0.468 C15orf42 90381 broad.mit.edu 37 15 90161424 90161424 + Missense_Mutation SNP C A A TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr15:90161424C>A uc002boe.2 + 17 3002 c.3002C>A c.(3001-3003)TCC>TAC p.S1001Y NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 1001 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) GTTGAAGAGTCCCCTGAAAAA 0.388 ACSM2B 348158 broad.mit.edu 37 16 20554273 20554273 + Missense_Mutation SNP G A A TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr16:20554273G>A uc002dhj.3 - 13 1682 c.1472C>T c.(1471-1473)ACG>ATG p.T491M ACSM2B_uc002dhk.3_Missense_Mutation_p.T491M|ACSM2B_uc010bwf.1_Missense_Mutation_p.T491M NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 491 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 GATCACAGCCGTCTCAACCAC 0.517 ATP2A3 489 broad.mit.edu 37 17 3851127 3851127 + Missense_Mutation SNP T A A TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr17:3851127T>A uc002fxb.1 - 8 804 c.653A>T c.(652-654)AAA>ATA p.K218I ATP2A3_uc002fwx.1_Missense_Mutation_p.K218I|ATP2A3_uc002fwy.1_Missense_Mutation_p.K218I|ATP2A3_uc002fwz.1_Missense_Mutation_p.K218I|ATP2A3_uc002fxa.1_Missense_Mutation_p.K218I|ATP2A3_uc002fxc.1_Missense_Mutation_p.K218I|ATP2A3_uc002fxd.1_Missense_Mutation_p.K218I NM_174955 NP_777615 Q93084 AT2A3_HUMAN ATPase, Ca++ transporting, ubiquitous isoform b 218 Cytoplasmic (By similarity). ATP biosynthetic process|platelet activation integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding ovary(3)|breast(1)|central_nervous_system(1) 5 LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766) ACCCACCGCTTTGCCCGATGT 0.682 ANKFN1 162282 broad.mit.edu 37 17 54450196 54450196 + Missense_Mutation SNP A T T TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr17:54450196A>T uc002iun.1 + 6 835 c.800A>T c.(799-801)CAT>CTT p.H267L NM_153228 NP_694960 Q8N957 ANKF1_HUMAN ankyrin-repeat and fibronectin type III domain 267 large_intestine(1)|ovary(1) 2 GGCTTTGAGCATGCCAGTGAG 0.433 CYB561 1534 broad.mit.edu 37 17 61514742 61514742 + Missense_Mutation SNP C A A TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr17:61514742C>A uc002jap.2 - 1 569 c.167G>T c.(166-168)TGC>TTC p.C56F CYB561_uc002jaq.2_Missense_Mutation_p.C102F|CYB561_uc002jar.2_Missense_Mutation_p.C56F|CYB561_uc002jas.2_Missense_Mutation_p.C56F|CYB561_uc010ddt.2_Missense_Mutation_p.C56F|CYB561_uc002jat.2_Missense_Mutation_p.C56F|CYB561_uc010wpf.1_Missense_Mutation_p.C56F|CYB561_uc010wpg.1_Missense_Mutation_p.C27F NM_001915 NP_001906 P49447 CY561_HUMAN cytochrome b-561 56 Helical; (Potential).|Cytochrome b561. electron transport chain|transport integral to plasma membrane cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding ovary(1) 1 READ - Rectum adenocarcinoma(1115;0.0689) TATGACCATGCAGAGGGGGTG 0.647 CCDC45 90799 broad.mit.edu 37 17 62532771 62532771 + Nonsense_Mutation SNP C T T TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr17:62532771C>T uc002jem.2 + 18 2180 c.2122C>T c.(2122-2124)CGA>TGA p.R708* CCDC45_uc002jen.2_RNA|CCDC45_uc010wqb.1_Nonsense_Mutation_p.R544* NM_138363 NP_612372 Q96GE4 CEP95_HUMAN coiled-coil domain containing 45 708 Potential. centrosome|spindle pole protein binding 0 Breast(5;1.32e-14) BRCA - Breast invasive adenocarcinoma(8;8.6e-12) GCAAAGATTACGAGACCTAAG 0.373 LMAN1 3998 broad.mit.edu 37 18 57013193 57013194 + Frame_Shift_Ins INS - T T TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr18:57013193_57013194insT uc002lhz.2 - 8 944_945 c.912_913insA c.(910-915)AAAGAGfs p.K304fs NM_005570 NP_005561 P49257 LMAN1_HUMAN lectin, mannose-binding, 1 precursor 304_305 Lumenal (Potential). blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane mannose binding|metal ion binding|unfolded protein binding skin(1) 1 Colorectal(73;0.0946) Antihemophilic Factor(DB00025) TGGAATTCCTCTTTTTTTTTAT 0.455 FPR2 2358 broad.mit.edu 37 19 52272612 52272612 + Missense_Mutation SNP T C C TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr19:52272612T>C uc002pxr.2 + 2 746 c.701T>C c.(700-702)ATT>ACT p.I234T FPR2_uc002pxs.3_Missense_Mutation_p.I234T|FPR2_uc010epf.2_Missense_Mutation_p.I234T NM_001005738 NP_001005738 P25090 FPR2_HUMAN formyl peptide receptor-like 1 234 Cytoplasmic (Potential). cell adhesion|cellular component movement|chemotaxis|inflammatory response integral to membrane|plasma membrane N-formyl peptide receptor activity lung(3)|ovary(1) 4 AAGGGCATGATTAAATCCAGC 0.507 LILRA4 23547 broad.mit.edu 37 19 54848923 54848923 + Missense_Mutation SNP C T T TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr19:54848923C>T uc002qfj.2 - 5 757 c.700G>A c.(700-702)GTG>ATG p.V234M LILRA4_uc002qfi.2_Missense_Mutation_p.V168M NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 234 Extracellular (Potential).|Ig-like C2-type 3. integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CCGGGGGTCACGACAGGGCCC 0.647 LAIR1 3903 broad.mit.edu 37 19 54872745 54872745 + Missense_Mutation SNP C T T TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr19:54872745C>T uc002qfk.1 - 3 452 c.142G>A c.(142-144)GTG>ATG p.V48M LAIR1_uc002qfl.1_Missense_Mutation_p.V48M|LAIR1_uc002qfm.1_Missense_Mutation_p.V47M|LAIR1_uc002qfn.1_Missense_Mutation_p.V47M|LAIR1_uc010yex.1_Missense_Mutation_p.V41M|LAIR1_uc002qfo.2_Missense_Mutation_p.V30M NM_002287 NP_002278 Q6GTX8 LAIR1_HUMAN leukocyte-associated immunoglobulin-like 48 Extracellular (Potential).|Ig-like C2-type. integral to membrane|plasma membrane protein binding|receptor activity ovary(4) 4 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0573) CCCCGGCACACGAAAGTCACA 0.567 SOS1 6654 broad.mit.edu 37 2 39234297 39234297 + Missense_Mutation SNP C A A TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr2:39234297C>A uc002rrk.3 - 16 2589 c.2548G>T c.(2548-2550)GCT>TCT p.A850S SOS1_uc002rrj.3_Missense_Mutation_p.A464S NM_005633 NP_005624 Q07889 SOS1_HUMAN son of sevenless homolog 1 850 Ras-GEF. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity ovary(4)|breast(3)|lung(2)|central_nervous_system(1) 10 all_hematologic(82;0.21) CTCACCACAGCTACTCTTTCT 0.323 Noonan_syndrome IL1RL2 8808 broad.mit.edu 37 2 102805705 102805705 + Silent SNP C T T TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr2:102805705C>T uc002tbs.2 + 3 354 c.228C>T c.(226-228)GAC>GAT p.D76D IL1RL2_uc002tbt.2_Intron NM_003854 NP_003845 Q9HB29 ILRL2_HUMAN interleukin 1 receptor-like 2 precursor 76 Extracellular (Potential).|Ig-like C2-type 1. cellular defense response|innate immune response integral to plasma membrane interleukin-1, Type I, activating receptor activity ovary(2) 2 TTCACCAGGACGAGACTTGGA 0.398 PLEKHM3 389072 broad.mit.edu 37 2 208842070 208842070 + Missense_Mutation SNP G C C TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr2:208842070G>C uc002vcl.2 - 3 1341 c.851C>G c.(850-852)ACT>AGT p.T284S PLEKHM3_uc002vcm.2_Missense_Mutation_p.T284S NM_001080475 NP_001073944 Q6ZWE6 PKHM3_HUMAN pleckstrin homology domain containing, family M, 284 PH 1. intracellular signal transduction metal ion binding ovary(1) 1 CTGTAGCTGAGTGTTGTCATA 0.512 SIGLEC1 6614 broad.mit.edu 37 20 3682241 3682241 + Missense_Mutation SNP C T T TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr20:3682241C>T uc002wja.2 - 6 1276 c.1276G>A c.(1276-1278)GGA>AGA p.G426R SIGLEC1_uc002wiz.3_Missense_Mutation_p.G426R NM_023068 NP_075556 Q9BZZ2 SN_HUMAN sialoadhesin precursor 426 Ig-like C2-type 4.|Extracellular (Potential). cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding pancreas(4)|ovary(2)|skin(2)|breast(1)|central_nervous_system(1) 10 CCCACAAGTCCCGCCTGGGTC 0.632 DNAJC28 54943 broad.mit.edu 37 21 34861310 34861310 + Missense_Mutation SNP G A A TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr21:34861310G>A uc002yrv.2 - 2 840 c.391C>T c.(391-393)CCC>TCC p.P131S DNAJC28_uc002yrw.2_Missense_Mutation_p.P131S NM_017833 NP_060303 Q9NX36 DJC28_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 28 131 heat shock protein binding 0 CGGTGTTGGGGTGTTTTATAT 0.393 CNTN6 27255 broad.mit.edu 37 3 1424680 1424680 + Missense_Mutation SNP C T T TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr3:1424680C>T uc003boz.2 + 18 2488 c.2221C>T c.(2221-2223)CGG>TGG p.R741W CNTN6_uc011asj.1_Missense_Mutation_p.R669W|CNTN6_uc003bpa.2_Missense_Mutation_p.R741W NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 741 Fibronectin type-III 2. 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) CATCATGTTCCGGCCAGTGGG 0.433 FRAS1 80144 broad.mit.edu 37 4 79400817 79400817 + Silent SNP C T T TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr4:79400817C>T uc003hlb.2 + 56 8828 c.8388C>T c.(8386-8388)AAC>AAT p.N2796N NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2791 Calx-beta 3.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 GTGGTCCCAACGATGCCTCGA 0.532 SLC10A6 345274 broad.mit.edu 37 4 87749309 87749309 + Missense_Mutation SNP C T T TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr4:87749309C>T uc003hqd.2 - 4 746 c.598G>A c.(598-600)GTT>ATT p.V200I NM_197965 NP_932069 Q3KNW5 SOAT_HUMAN sodium-dependent organic anion transporter 200 Helical; (Potential). integral to membrane|plasma membrane bile acid:sodium symporter activity 0 Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248) OV - Ovarian serous cystadenocarcinoma(123;0.00099) ACCCCACCAACAACGGCCCCA 0.428 RAMP3 10268 broad.mit.edu 37 7 45216936 45216936 + Silent SNP C T T rs145890722 byFrequency TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr7:45216936C>T uc003tnb.2 + 2 148 c.87C>T c.(85-87)AAC>AAT p.N29N RAMP3_uc003tnc.2_Translation_Start_Site NM_005856 NP_005847 O60896 RAMP3_HUMAN receptor activity modifying protein 3 precursor 29 Extracellular (Potential). intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway integral to plasma membrane|lysosome protein transporter activity 0 Pramlintide(DB01278) GCGGCTGCAACGAGACAGGCA 0.597 EGFR 1956 broad.mit.edu 37 7 55221822 55221822 + Missense_Mutation SNP C T T rs149840192 TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr7:55221822C>T uc003tqk.2 + 7 1112 c.866C>T c.(865-867)GCC>GTC p.A289V EGFR_uc003tqh.2_Missense_Mutation_p.A289V|EGFR_uc003tqi.2_Missense_Mutation_p.A289V|EGFR_uc003tqj.2_Missense_Mutation_p.A289V|EGFR_uc010kzg.1_Missense_Mutation_p.A244V|EGFR_uc011kco.1_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 289 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.A289V(20)|p.V30_R297>G(5)|p.A289D(3)|p.A289T(3) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) AGCTTTGGTGCCACCTGCGTG 0.592 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) DTX2 113878 broad.mit.edu 37 7 76112453 76112453 + Silent SNP C T T TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr7:76112453C>T uc003uff.3 + 5 1453 c.897C>T c.(895-897)TCC>TCT p.S299S DTX2_uc011kgk.1_Silent_p.S208S|DTX2_uc003ufg.3_Silent_p.S299S|DTX2_uc003ufh.3_Silent_p.S299S|DTX2_uc003ufj.3_Silent_p.S299S NM_020892 NP_065943 Q86UW9 DTX2_HUMAN deltex 2 isoform a 299 Notch signaling pathway cytoplasm|nucleus protein binding|zinc ion binding ovary(1)|skin(1) 2 CCTCCACCTCCGGTGCAGTCA 0.662 PCLO 27445 broad.mit.edu 37 7 82784468 82784468 + Missense_Mutation SNP C T T TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr7:82784468C>T uc003uhx.2 - 2 1778 c.1489G>A c.(1489-1491)GCA>ACA p.A497T PCLO_uc003uhv.2_Missense_Mutation_p.A497T NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 443 Gln-rich.|Pro-rich.|10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X. A -> T (in Ref. 4; CAB60727). cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GGGGGCTTTGCTGAGCCAGGC 0.612 TRY6 154754 broad.mit.edu 37 7 142468304 142468305 + Splice_Site INS - TA TA TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr7:142468304_142468305insTA uc011kso.1 + 1 c.46_splice c.e1+1 uc011krr.1_Intron|uc003vzp.2_Intron|uc011ksh.1_Intron|uc011ksi.1_Intron|uc003vzw.1_Intron|uc010loj.1_Intron|uc003wad.2_Intron|uc003wag.1_Intron|TRY6_uc011ksn.1_Intron|uc003wan.1_Intron|uc011ksp.1_5'Flank Homo sapiens protease, serine, 2 (trypsin 2), mRNA (cDNA clone IMAGE:3928526), partial cds. 0 GGAGCTGCTGGCGAGTTTCATG 0.540 OR2A2 442361 broad.mit.edu 37 7 143807297 143807297 + Missense_Mutation SNP G A A TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr7:143807297G>A uc011ktz.1 + 1 622 c.622G>A c.(622-624)GGG>AGG p.G208R NM_001005480 NP_001005480 Q6IF42 OR2A2_HUMAN olfactory receptor, family 2, subfamily A, 208 Helical; Name=5; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2) 2 Melanoma(164;0.0783) TGTCTTAGTCGGGCCTCTTTC 0.522 CSMD3 114788 broad.mit.edu 37 8 114290824 114290824 + Missense_Mutation SNP C T T TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr8:114290824C>T uc003ynu.2 - 3 670 c.511G>A c.(511-513)GAA>AAA p.E171K CSMD3_uc003ynt.2_Missense_Mutation_p.E131K|CSMD3_uc011lhx.1_Missense_Mutation_p.E171K|CSMD3_uc010mcx.1_Missense_Mutation_p.E171K NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 171 Extracellular (Potential).|CUB 1. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CACTTACCTTCGTAATATACC 0.378 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) DENND3 22898 broad.mit.edu 37 8 142151330 142151330 + Missense_Mutation SNP C T T TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chr8:142151330C>T uc003yvy.2 + 4 568 c.290C>T c.(289-291)ACG>ATG p.T97M DENND3_uc003yvw.1_Missense_Mutation_p.T110M|DENND3_uc003yvx.2_Missense_Mutation_p.R176C|DENND3_uc010mep.2_Missense_Mutation_p.T110M NM_014957 NP_055772 A2RUS2 DEND3_HUMAN DENN/MADD domain containing 3 97 ovary(1) 1 all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.105) AATGGCAAAACGCACCGGGAG 0.532 TEX13B 56156 broad.mit.edu 37 X 107224904 107224904 + Missense_Mutation SNP G A A TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chrX:107224904G>A uc004enn.1 - 2 547 c.454C>T c.(454-456)CAT>TAT p.H152Y NM_031273 NP_112563 Q9BXU2 TX13B_HUMAN testis expressed 13B 152 ovary(1) 1 CTTACGGCATGGAAGAGCTTC 0.597 PASD1 139135 broad.mit.edu 37 X 150817142 150817144 + In_Frame_Del DEL GCT - - TCGA-81-5911-01A-12D-1845-08 TCGA-81-5911-10A-01D-1845-08 Somatic Phase_I Capture Illumina GAIIx a501e01b-249c-43cb-aee2-f355c3c697dd c391bf4d-b3e8-4447-9654-50004779a2d6 g.chrX:150817142_150817144delGCT uc004fev.3 + 9 1017_1019 c.685_687delGCT c.(685-687)GCTdel p.A236del NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 236 Poly-Ala. nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) CGTTGAACCCgctgctgctgctg 0.355