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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut DNHD1 144132 broad.mit.edu 37 11 6592281 6592281 + Silent SNP A C C TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr11:6592281A>C uc001mdw.4 + 41 14103 c.13539A>C c.(13537-13539)gcA>gcC p.A4513A DNHD1_uc001mea.4_Silent_p.A782A|DNHD1_uc001meb.3_3'UTR|DNHD1_uc001mec.3_Silent_p.A781A|DNHD1_uc010rao.2_Silent_p.A771A|DNHD1_uc009yfg.3_Silent_p.A138A NM_144666 NP_653267 Q96M86 DNHD1_HUMAN Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA. 4513 microtubule-based movement dynein complex microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 55 Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171) Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13) TGAAGGGCGCACCCCCGTGCC 0.677000 25 7 0 0 0.006214 0 0 C15orf42 90381 broad.mit.edu 37 15 90170259 90170260 + Missense_Mutation DNP CC AA AA TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr15:90170259_90170260CC>AA uc002boe.3 + 21 5675_5676 c.5675_5676CC>AA c.(5674-5676)ccc>cAA p.P1892Q C15orf42_uc021sug.1_Missense_Mutation_p.P1891Q NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA. 1892 DNA repair|DNA replication|G2/M transition checkpoint|cell cycle|formation of translation preinitiation complex|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 59 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) AGGAGGCGCCCCATCAGCAGAA 0.500000 138 7 0 0 0.004672 0 0 CSMD1 64478 broad.mit.edu 37 8 3081381 3081381 + Missense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr8:3081381C>T uc022aqr.1 - 27 4744 c.4354G>A c.(4354-4356)Gga>Aga p.G1452R CSMD1_uc011kwj.2_Missense_Mutation_p.G845R|CSMD1_uc003wqe.3_Missense_Mutation_p.G609R NM_033225 NP_150094 Q96PZ7 CSMD1_HUMAN Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA. 1453 CUB 9. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) AGATTCCCTCCACAAGCAGCT 0.493000 13 5 0 0 0.001168 0 0 C10orf137 26098 broad.mit.edu 37 10 127412503 127412503 + Nonsense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr10:127412503C>T uc001liq.1 + 3 801 c.508C>T c.(508-510)Cag>Tag p.Q170* C10orf137_uc001lin.3_Nonsense_Mutation_p.Q170*|C10orf137_uc001lip.1_5'UTR|C10orf137_uc001lio.1_Nonsense_Mutation_p.Q170* NM_001202438 NP_001189367 Q3B7T1 EDRF1_HUMAN Homo sapiens chromosome 10 open reading frame 137 (C10orf137), transcript variant 1, mRNA. 170 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus binding p.Q170*(2) NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 61 all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936) GAGATCGTCTCAGGTAATGCT 0.398000 15 22 0 0 0.002299 0 0 PITPNM2 57605 broad.mit.edu 37 12 123489978 123489978 + Missense_Mutation SNP G T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr12:123489978G>T uc001uej.1 - 5 960 c.761C>A c.(760-762)tCc>tAc p.S254Y PITPNM2_uc001uek.1_Missense_Mutation_p.S254Y|PITPNM2_uc009zxu.1_Missense_Mutation_p.S254Y NM_020845 NP_065896 Q9BZ72 PITM2_HUMAN Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA. 254 metabolic process|transport endomembrane system|integral to membrane|intracellular membrane-bounded organelle calcium ion binding|lipid binding NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 39 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123) CATCTTACGGGAAAGCATGAG 0.637000 64 33 1.22384e-17 1.09514e-16 0.002836 1 0 LSR 51599 broad.mit.edu 37 19 35757850 35757850 + Missense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr19:35757850C>T uc002nyl.3 + 7 1491 c.1268C>T c.(1267-1269)cCc>cTc p.P423L LSR_uc010xsr.2_Missense_Mutation_p.P315L|LSR_uc002nym.3_Missense_Mutation_p.P404L|LSR_uc002nyn.3_Missense_Mutation_p.P355L|LSR_uc002nyo.3_Missense_Mutation_p.P403L|LSR_uc002nyp.3_Missense_Mutation_p.P365L|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyv.1_5'Flank NM_205834 NP_991403 Q86X29 LSR_HUMAN Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA. 423 embryo development|liver development chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle receptor activity breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 13 all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162) Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) CCTGGCCCCCCCAGTGGCCGT 0.622000 24 10 0 0 0.001368 0 0 PPP6C 5537 broad.mit.edu 37 9 127933365 127933365 + Splice_Site SNP T A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr9:127933365T>A uc010mwv.3 - 3 503 c.282_splice c.e3+1 p.Q94_splice PPP6C_uc004bpg.4_Splice_Site_p.Q57_splice|PPP6C_uc010mww.3_Splice_Site_p.Q57_splice|PPP6C_uc011lzr.2_Splice_Site NM_001123355 NP_001116827 O00743 PPP6_HUMAN Homo sapiens protein phosphatase 6, catalytic subunit (PPP6C), transcript variant 1, mRNA. 57 G1/S transition of mitotic cell cycle|protein dephosphorylation cytosol metal ion binding|protein binding|protein serine/threonine phosphatase activity NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3) 14 AAATTTTACCTGTCCATGGAT 0.378000 28 81 0 0 0.003610 0 0 PCDHAC2 56134 broad.mit.edu 37 5 140346636 140346636 + Silent SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr5:140346636G>A uc003lii.3 + 0 890 c.285G>A c.(283-285)acG>acA p.T95T PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lih.2_Intron|PCDHAC2_uc011dag.2_Silent_p.T95T NM_018899 NP_061722 Q9Y5I4 PCDC2_HUMAN Homo sapiens protocadherin alpha subfamily C, 2 (PCDHAC2), transcript variant 1, mRNA. 95 Cadherin 1. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1) 45 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGGACCTGACGAGTGGAGCGC 0.677000 6 28 0 0 0.005443 0 0 APOB 338 broad.mit.edu 37 2 21232428 21232428 + Missense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr2:21232428C>T uc002red.3 - 25 7440 c.7312G>A c.(7312-7314)Gaa>Aaa p.E2438K NM_000384 NP_000375 P04114 APOB_HUMAN Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA. 2438 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6) 305 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) TCATTGGTTTCATCTACAAAC 0.323000 270 332 0 0 0.003610 0 0 PHKB 5257 broad.mit.edu 37 16 47722962 47722962 + Missense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr16:47722962C>T uc002eev.4 + 26 2693 c.2641C>T c.(2641-2643)Cat>Tat p.H881Y PHKB_uc002eeu.4_Missense_Mutation_p.H874Y|PHKB_uc002eew.4_Missense_Mutation_p.H122Y NM_000293 NP_000284 Q93100 KPBB_HUMAN Homo sapiens phosphorylase kinase, beta (PHKB), transcript variant 1, mRNA. 881 glucose metabolic process|glycogen catabolic process cytosol|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1) 41 all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203) GTGGATCATCCATGCCATGGA 0.448000 29 16 0 0 0.006122 0 0 PLCL1 5334 broad.mit.edu 37 2 198950307 198950307 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr2:198950307G>A uc010fsp.3 + 1 2464 c.2066G>A c.(2065-2067)gGg>gAg p.G689E PLCL1_uc002uuv.4_Missense_Mutation_p.G610E NM_006226 NP_006217 Q15111 PLCL1_HUMAN Homo sapiens phospholipase C-like 1 (PLCL1), mRNA. 689 PI-PLC Y-box. intracellular signal transduction|lipid metabolic process cytoplasm calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 80 Quinacrine(DB01103) CTTCAAAACGGGGGATGTGGT 0.468000 71 34 0 0 0.003755 0 0 WASF1 8936 broad.mit.edu 37 6 110423339 110423339 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr6:110423339G>A uc003ptv.1 - 9 1811 c.974C>T c.(973-975)cCa>cTa p.P325L WASF1_uc003ptw.1_Missense_Mutation_p.P325L|WASF1_uc003ptx.1_Missense_Mutation_p.P325L|WASF1_uc003pty.1_Missense_Mutation_p.P325L NM_003931 NP_003922 Q92558 WASF1_HUMAN Homo sapiens WAS protein family, member 1 (WASF1), transcript variant 1, mRNA. 325 Poly-Pro. actin filament polymerization|cellular component movement actin cytoskeleton actin binding breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1) 16 all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488) OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687) TGGAGGAGGTGGGGGAGTGGG 0.517000 46 31 0 0 0.003755 0 0 FAM214A 56204 broad.mit.edu 37 15 52901077 52901077 + Silent SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr15:52901077G>A uc010ugf.2 - 4 2189 c.2055C>T c.(2053-2055)tcC>tcT p.S685S FAM214A_uc002acg.4_Silent_p.S678S|FAM214A_uc002ach.4_Non-coding_Transcript|FAM214A_uc010bfg.1_Silent_p.S590S NM_019600 NP_062546 Q32MH5 K1370_HUMAN Homo sapiens family with sequence similarity 214, member A (FAM214A), mRNA. 678 CATTTTTTTTGGAATCATCAG 0.284000 33 18 0 0 0.004990 0 0 SVIL 6840 broad.mit.edu 37 10 29812856 29812856 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr10:29812856G>A uc001iut.1 - 14 3440 c.2687C>T c.(2686-2688)aCa>aTa p.T896I SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Missense_Mutation_p.T470I NM_021738 NP_068506 O95425 SVIL_HUMAN Homo sapiens supervillin (SVIL), transcript variant 2, mRNA. 896 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2) 112 Breast(68;0.103) AGGTGGCTTTGTGCGAAGATC 0.463000 21 33 0 0 0.002836 0 0 SGSM1 129049 broad.mit.edu 37 22 25264413 25264413 + Silent SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr22:25264413G>A uc003abg.2 + 10 1222 c.1065G>A c.(1063-1065)aaG>aaA p.K355K SGSM1_uc010guu.1_Silent_p.K355K|SGSM1_uc003abh.2_Silent_p.K355K|SGSM1_uc003abj.2_Silent_p.K355K|SGSM1_uc003abi.1_Silent_p.K330K NM_001039948 NP_001035037 Q2NKQ1 SGSM1_HUMAN Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA. 355 Golgi apparatus Rab GTPase activator activity NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 41 GCTTCCCCAAGGGCGGGCACC 0.652000 42 13 0 0 0.002450 0 0 NEK4 6787 broad.mit.edu 37 3 52773466 52773466 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr3:52773466G>A uc003dfq.4 - 13 2481 c.2278C>T c.(2278-2280)Cat>Tat p.H760Y NEK4_uc011bej.2_Missense_Mutation_p.H671Y|NEK4_uc003dfr.3_Missense_Mutation_p.H714Y NM_003157 NP_003148 P51957 NEK4_HUMAN Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA. 760 cell division|mitosis nucleus ATP binding|metal ion binding|protein serine/threonine kinase activity breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10) 26 BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513) TCTTTAAAATGGATTTCCTCT 0.438000 50 36 0 0 0.005524 0 0 KRTAP4-6 81871 broad.mit.edu 37 17 39296167 39296167 + Silent SNP A G G TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr17:39296167A>G uc010cxk.2 - 0 573 c.573T>C c.(571-573)atT>atC p.I191I NM_030976 NP_112238 Q9BYQ5 KRA46_HUMAN Homo sapiens keratin associated protein 4-6 (KRTAP4-6), mRNA. 187 keratin filament endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(1)|prostate(1)|urinary_tract(1) 9 GGCAGGTGGAAATGACACAGG 0.627000 5 3 0 0 0.004672 0 0 L2HGDH 79944 broad.mit.edu 37 14 50713919 50713919 + Missense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr14:50713919C>T uc001wxu.3 - 9 1328 c.1249G>A c.(1249-1251)Gaa>Aaa p.E417K L2HGDH_uc010tqn.2_Intron|L2HGDH_uc010tqo.1_Missense_Mutation_p.E417K NM_024884 NP_079160 Q9H9P8 L2HDH_HUMAN Homo sapiens L-2-hydroxyglutarate dehydrogenase (L2HGDH), nuclear gene encoding mitochondrial protein, mRNA. 417 2-oxoglutarate metabolic process|cellular protein metabolic process integral to mitochondrial inner membrane 2-hydroxyglutarate dehydrogenase activity kidney(1)|large_intestine(4)|lung(3)|ovary(2) 10 all_epithelial(31;0.000599)|Breast(41;0.0102) ACAAAATCTTCTACCAGATTT 0.453000 20 9 0 0 0.006214 0 0 ABCB5 340273 broad.mit.edu 37 7 20795159 20795159 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr7:20795159G>A uc010kuh.3 + 27 3923 c.3686G>A c.(3685-3687)gGa>gAa p.G1229E ABCB5_uc003suw.4_Missense_Mutation_p.G784E NM_001163941 NP_848654 Q2M3G0 ABCB5_HUMAN Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA. 784 regulation of membrane potential Golgi membrane|apical plasma membrane|integral to plasma membrane|intercellular canaliculus ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1) 77 CTGCACAATGGAAAGATAAAG 0.448000 10 10 0 0 0.006214 0 0 HMOX1 3162 broad.mit.edu 37 22 35782755 35782755 + Silent SNP C T T rs148073049 by1000genomes TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr22:35782755C>T uc003ant.2 + 2 329 c.222C>T c.(220-222)ttC>ttT p.F74F NM_002133 NP_002124 P09601 HMOX1_HUMAN Homo sapiens heme oxygenase (decycling) 1 (HMOX1), mRNA. 74 angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of chemokine biosynthetic process|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response endoplasmic reticulum membrane|extracellular space|microsome enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity p.F74F(2) central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1) 16 NADH(DB00157) GCCCAGTCTTCGCCCCTGTCT 0.612000 31 14 0 0 0.003163 0 0 TMF1 7110 broad.mit.edu 37 3 69097533 69097533 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr3:69097533G>A uc011bfx.2 - 1 570 c.323C>T c.(322-324)aCc>aTc p.T108I TMF1_uc003dnn.3_Missense_Mutation_p.T108I NM_007114 NP_009045 P82094 TMF1_HUMAN Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA. 108 regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter Golgi membrane|nucleus DNA binding|protein binding|transcription cofactor activity cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 22 Lung NSC(201;0.0193)|Prostate(884;0.174) BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247) CTTCTGAATGGTCTGGACATC 0.453000 110 64 0 0 0.003610 0 0 C17orf47 284083 broad.mit.edu 37 17 56620976 56620976 + Missense_Mutation SNP C T T rs140186503 TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr17:56620976C>T uc002iwq.2 - 0 758 c.572G>A c.(571-573)cGt>cAt p.R191H SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank NM_001038704 NP_001033793 Q8NEP4 CQ047_HUMAN Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA. 191 p.R191S(1) NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1) 24 Medulloblastoma(34;0.127)|all_neural(34;0.237) CAAAATCCTACGGGGAACTCT 0.448000 60 20 0 0 0.008871 0 0 GPR125 166647 broad.mit.edu 37 4 22390458 22390458 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr4:22390458G>A uc003gqm.1 - 18 3101 c.2836C>T c.(2836-2838)Cct>Tct p.P946S GPR125_uc010ieo.1_Missense_Mutation_p.P802S|GPR125_uc003gql.1_Missense_Mutation_p.P73S NM_145290 NP_660333 Q8IWK6 GP125_HUMAN Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA. 946 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) TTGCGCTCAGGGTGTCTTTTC 0.448000 39 29 0 0 0.008361 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A T T rs121913377 TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 37 28 0 0 0.007291 0 0 C15orf23 90417 broad.mit.edu 37 15 40675132 40675132 + Silent SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr15:40675132G>A uc001zll.3 + 0 211 c.96G>A c.(94-96)cgG>cgA p.R32R C15orf23_uc001zlo.3_Silent_p.R32R|C15orf23_uc001zlm.3_Non-coding_Transcript|C15orf23_uc001zln.3_Non-coding_Transcript|C15orf23_uc010ucp.2_Silent_p.R32R NM_033286 NP_150628 Q9Y448 T4AF1_HUMAN Homo sapiens chromosome 15 open reading frame 23 (C15orf23), transcript variant 1, mRNA. 32 nucleus protein binding central_nervous_system(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)|stomach(1) 14 all_cancers(109;2.34e-14)|all_epithelial(112;9.21e-12)|Lung NSC(122;2.95e-09)|all_lung(180;6.03e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243) GBM - Glioblastoma multiforme(113;3.39e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0798) CTAGCTACCGGAAGTTTCTAT 0.577000 50 31 0 0 0.002836 0 0 RHOBTB1 9886 broad.mit.edu 37 10 62645910 62645910 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr10:62645910G>A uc001jli.3 - 7 1973 c.1535C>T c.(1534-1536)gCc>gTc p.A512V RHOBTB1_uc009xpe.2_Missense_Mutation_p.A450V|RHOBTB1_uc001jlh.3_Missense_Mutation_p.A512V|RHOBTB1_uc001jlj.3_Missense_Mutation_p.A512V|RHOBTB1_uc001jlk.3_Missense_Mutation_p.A512V NM_001242359 NP_001229288 O94844 RHBT1_HUMAN Homo sapiens Rho-related BTB domain containing 1 (RHOBTB1), transcript variant 4, mRNA. 512 BTB 2. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1) 23 Prostate(12;0.0112) CCCGAACATGGCTGCCATCCA 0.488000 63 10 0 0 0.008291 0 0 ROS1 6098 broad.mit.edu 37 6 117678055 117678055 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr6:117678055G>A uc003pxp.1 - 24 4077 c.3878C>T c.(3877-3879)tCc>tTc p.S1293F ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron NM_002944 NP_002935 P08922 ROS_HUMAN Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA. 1293 transmembrane receptor protein tyrosine kinase signaling pathway membrane fraction|sodium:potassium-exchanging ATPase complex ATP binding|transmembrane receptor protein tyrosine kinase activity TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7) NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3) 162 all_cancers(87;0.00846)|all_epithelial(87;0.0242) GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137) GCCAAAATTGGAAACTTCTGT 0.373000 T """GOPC, SDC4, SLC34A2, EZR, LRIG3""" """glioblastoma, NSCLC""" 19 9 0 0 0.006214 0 0 C7 730 broad.mit.edu 37 5 40959604 40959604 + Missense_Mutation SNP G C C TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr5:40959604G>C uc003jmh.3 + 11 1657 c.1543G>C c.(1543-1545)Ggg>Cgg p.G515R C7_uc011cpn.1_Non-coding_Transcript NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 515 TSP type-1 2. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) CTGTGTCCAAGGGAAGAAAAC 0.498000 13 4 0 0 0.000602 0 0 MON1B 22879 broad.mit.edu 37 16 77225452 77225452 + Missense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr16:77225452C>T uc002fez.3 + 1 400 c.70C>T c.(70-72)Ccc>Tcc p.P24S MON1B_uc010vnf.2_Missense_Mutation_p.P24S|MON1B_uc010vng.2_Intron|MON1B_uc002ffa.3_5'Flank NM_014940 NP_055755 Q7L1V2 MON1B_HUMAN Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA. 24 protein binding breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 17 CACGCAGTTCCCCAGTGAGGA 0.647000 9 3 0 0 0.004672 0 0 GHR 2690 broad.mit.edu 37 5 42689066 42689066 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr5:42689066G>A uc021xxv.1 + 3 369 c.232G>A c.(232-234)Gag>Aag p.E78K GHR_uc003jmt.3_Missense_Mutation_p.E71K|GHR_uc003jmu.3_Missense_Mutation_p.E71K|GHR_uc003jmv.2_Missense_Mutation_p.E71K|GHR_uc021xxw.1_Missense_Mutation_p.E71K|GHR_uc021xxx.1_Missense_Mutation_p.E71K|GHR_uc021xxy.1_Missense_Mutation_p.E71K|GHR_uc021xxz.1_Missense_Mutation_p.E71K|GHR_uc021xya.1_Missense_Mutation_p.E71K|GHR_uc021xyb.1_Missense_Mutation_p.E71K|GHR_uc021xyc.1_Missense_Mutation_p.E71K|GHR_uc011cpq.2_Intron|GHR_uc021xyd.1_Missense_Mutation_p.E49K NM_001242399 NP_001229328 P10912 GHR_HUMAN Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA. 71 2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) CTGGACAGATGAGGTTCATCA 0.453000 34 71 0 0 0.003610 0 0 TMEM74 157753 broad.mit.edu 37 8 109796863 109796863 + Silent SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr8:109796863C>T uc003ymy.1 - 1 570 c.465G>A c.(463-465)ttG>ttA p.L155L TMEM74_uc003ymx.3_Intron|TMEM74_uc022azr.1_Silent_p.L155L NM_153015 NP_694560 Q96NL1 TMM74_HUMAN Homo sapiens transmembrane protein 74 (TMEM74), mRNA. 155 autophagy autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 29 OV - Ovarian serous cystadenocarcinoma(57;3.08e-10) CTTCAGATATCAAAGATATGG 0.498000 30 22 0 0 0.002299 0 0 MUC5B 727897 broad.mit.edu 37 11 1265997 1265997 + Silent SNP G T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr11:1265997G>T uc001lta.3 + 30 7946 c.7887G>T c.(7885-7887)acG>acT p.T2629T NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 2629 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398).|RTL -> LTP (in Ref. 4; CAA96577). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.T2629T(2)|p.R2628L(1)|p.T2608T(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CGGCACGCACGCTTCCAGTGT 0.637000 89 5 3.07112e-06 2.61346e-05 0.000978 1 0 C8B 732 broad.mit.edu 37 1 57425769 57425769 + Missense_Mutation SNP A G G TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr1:57425769A>G uc001cyp.3 - 1 240 c.173T>C c.(172-174)gTt>gCt p.V58A C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_Missense_Mutation_p.V6A NM_000066 NP_000057 P07358 CO8B_HUMAN Homo sapiens complement component 8, beta polypeptide (C8B), mRNA. 58 complement activation, alternative pathway|complement activation, classical pathway|cytolysis membrane attack complex breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1) 52 CATCAGGGTAACATCCACACT 0.488000 21 31 0 0 0.008361 0 0 TMTC2 160335 broad.mit.edu 37 12 83289710 83289710 + Silent SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr12:83289710G>A uc001szt.3 + 2 1200 c.768G>A c.(766-768)tcG>tcA p.S256S TMTC2_uc001szr.1_Silent_p.S256S|TMTC2_uc001szs.1_Silent_p.S256S|TMTC2_uc010suk.2_Silent_p.S11S NM_152588 NP_689801 Q8N394 TMTC2_HUMAN Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA. 256 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 TTTCCAACTCGGACAACCCCG 0.507000 55 41 0 0 0.002522 0 0 GPR37 2861 broad.mit.edu 37 7 124386647 124386647 + Missense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr7:124386647C>T uc003vli.3 - 1 2425 c.1774G>A c.(1774-1776)Gaa>Aaa p.E592K NM_005302 NP_005293 O15354 GPR37_HUMAN Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA. 592 endoplasmic reticulum membrane|integral to plasma membrane G-protein coupled receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 GGCGAGAGTTCGAGTTCCGTG 0.483000 116 20 0 0 0.001882 0 0 FASTKD5 60493 broad.mit.edu 37 20 3128887 3128887 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr20:3128887G>A uc021vzx.1 - 0 830 c.830C>T c.(829-831)tCc>tTc p.S277F LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Missense_Mutation_p.S277F NM_021826 NP_068598 Q7L8L6 FAKD5_HUMAN Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA. 277 apoptosis|cellular respiration mitochondrion ATP binding|protein kinase activity breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2) 19 CTGAGACAAGGATAGATCCTT 0.363000 26 29 0 0 0.006320 0 0 MUC5B 727897 broad.mit.edu 37 11 1265993 1265993 + Missense_Mutation SNP G T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr11:1265993G>T uc001lta.3 + 30 7942 c.7883G>T c.(7882-7884)cGc>cTc p.R2628L NM_002458 NP_002449 Q9HC84 MUC5B_HUMAN Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA. 2628 11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich. Missing (in Ref. 6; AAB61398).|RTL -> LTP (in Ref. 4; CAA96577). cell adhesion extracellular region extracellular matrix structural constituent|protein binding p.R2628L(2)|p.R2607L(1) cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1) 137 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) GGGACGGCACGCACGCTTCCA 0.642000 91 6 1.08611e-07 9.42742e-07 0.000978 1 0 LRP2 4036 broad.mit.edu 37 2 170019096 170019096 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr2:170019096G>A uc002ues.3 - 62 11986 c.11773C>T c.(11773-11775)Cct>Tct p.P3925S NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 3925 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) CAAGGTTTAGGGGTCGGTTTT 0.388000 31 15 0 0 0.004990 0 0 SLC4A5 57835 broad.mit.edu 37 2 74460550 74460550 + Silent SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr2:74460550G>A uc002sko.1 - 17 2576 c.2574C>T c.(2572-2574)aaC>aaT p.N858N SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Silent_p.N858N|SLC4A5_uc010ffc.1_Silent_p.N858N|SLC4A5_uc002skp.1_Silent_p.N756N|SLC4A5_uc002sks.1_Silent_p.N820N NM_021196 NP_067019 Q9BY07 S4A5_HUMAN Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA. 858 apical plasma membrane|integral to membrane inorganic anion exchanger activity|sodium:bicarbonate symporter activity breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1) 48 TCTCCTTCCGGTTGACAATGA 0.532000 54 22 0 0 0.003954 0 0 MBNL1 4154 broad.mit.edu 37 3 152150590 152150590 + Silent SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr3:152150590C>T uc003ezm.3 + 2 1219 c.430C>T c.(430-432)Ctg>Ttg p.L144L MBNL1_uc003ezh.3_Silent_p.L144L|MBNL1_uc003ezi.3_Silent_p.L144L|MBNL1_uc003ezj.3_Silent_p.L87L|MBNL1_uc003ezl.3_Silent_p.L144L|MBNL1_uc003ezp.3_Silent_p.L144L|MBNL1_uc003ezn.3_Intron|MBNL1_uc003ezo.3_Intron|MBNL1_uc010hvp.3_Silent_p.L52L NM_207293 NP_997176 Q9NR56 MBNL1_HUMAN Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA. 144 embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development nucleus|stress granule double-stranded RNA binding|protein binding|zinc ion binding endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 22 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813) TTCTCCAAGCCTGGTCCCGGC 0.498000 110 42 0 0 0.002522 0 0 A4GNT 51146 broad.mit.edu 37 3 137849889 137849889 + Silent SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr3:137849889G>A uc003ers.2 - 1 412 c.210C>T c.(208-210)tcC>tcT p.S70S NM_016161 NP_057245 Q9UNA3 A4GCT_HUMAN Homo sapiens alpha-1,4-N-acetylglucosaminyltransferase (A4GNT), mRNA. 70 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity p.S70Y(1) breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 CAGACTCTACGGAACAGGAGA 0.532000 159 134 0 0 0.003610 0 0 CCDC116 164592 broad.mit.edu 37 22 21990800 21990800 + Missense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr22:21990800C>T uc002zve.3 + 4 1376 c.1283C>T c.(1282-1284)tCc>tTc p.S428F NM_152612 NP_689825 Q8IYX3 CC116_HUMAN Homo sapiens coiled-coil domain containing 116 (CCDC116), mRNA. 428 endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5) 22 Colorectal(54;0.105) TCTCACTTCTCCAACCGCCTT 0.592000 12 12 0 0 0.001368 0 0 CAMK1D 57118 broad.mit.edu 37 10 12858327 12858327 + Splice_Site SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr10:12858327G>A uc001ilo.3 + 8 1068 c.833_splice c.e8+1 p.W278_splice CAMK1D_uc001iln.3_Splice_Site_p.W278_splice NM_153498 NP_705718 Q8IU85 KCC1D_HUMAN Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA. 278 Protein kinase. calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1) 16 GBM - Glioblastoma multiforme(1;3.16e-05) CGGCACCCATGGTAAGGAAAT 0.502000 47 71 0 0 0.003610 0 0 CXorf21 80231 broad.mit.edu 37 X 30578040 30578040 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chrX:30578040G>A uc022bui.1 - 0 433 c.433C>T c.(433-435)Ccc>Tcc p.P145S CXorf21_uc004dcg.2_Missense_Mutation_p.P145S NM_025159 NP_079435 Q9HAI6 CX021_HUMAN Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA. 145 kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1) 20 CTCTCAGAGGGAAAATCTGTT 0.433000 3 15 0 0 0.006122 0 0 OR5C1 392391 broad.mit.edu 37 9 125552169 125552169 + Missense_Mutation SNP C A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr9:125552169C>A uc011lzd.2 + 0 958 c.958C>A c.(958-960)Cag>Aag p.Q320K NM_001001923 NP_001001923 Q8NGR4 OR5C1_HUMAN Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA. 320 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1) 20 GCAGGGGTCCCAGTGATTGGT 0.597000 15 20 8.10497e-08 7.10618e-07 0.001523 1 0 PRKD2 25865 broad.mit.edu 37 19 47192935 47192935 + Silent SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr19:47192935G>A uc002pfh.3 - 14 2172 c.1830C>T c.(1828-1830)atC>atT p.I610I PRKD2_uc010eks.3_Silent_p.I13I|PRKD2_uc010ekt.3_5'UTR|PRKD2_uc002pfg.3_Silent_p.I453I|PRKD2_uc002pfi.3_Silent_p.I610I|PRKD2_uc002pfj.3_Silent_p.I610I|PRKD2_uc010xye.2_Silent_p.I610I|PRKD2_uc002pfk.3_Silent_p.I453I NM_001079881 NP_001073351 Q9BZL6 KPCD2_HUMAN Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA. 610 Protein kinase. T cell receptor signaling pathway|cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1) 41 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) CCAGGTTCACGATCCCGGGAT 0.587000 44 40 0 0 0.002852 0 0 CA9 768 broad.mit.edu 37 9 35675829 35675829 + Nonsense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr9:35675829C>T uc003zxo.4 + 2 547 c.505C>T c.(505-507)Cag>Tag p.Q169* C9orf100_uc003zxl.3_Non-coding_Transcript NM_001216 NP_001207 Q16790 CAH9_HUMAN Homo sapiens carbonic anhydrase IX (CA9), mRNA. 169 Catalytic. one-carbon metabolic process integral to membrane|microvillus membrane|nucleolus carbonate dehydratase activity|zinc ion binding kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1) 17 all_epithelial(49;0.217) Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194) TATCCGCCCCCAGCTCGCCGC 0.716000 1 14 0 0 0.002450 0 0 CRH 1392 broad.mit.edu 37 8 67089264 67089264 + Missense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr8:67089264C>T uc022avj.1 - 0 449 c.449G>A c.(448-450)aGa>aAa p.R150K CRH_uc003xvy.2_Missense_Mutation_p.R150K NM_000756 NP_000747 P06850 CRF_HUMAN Homo sapiens corticotropin releasing hormone (CRH), mRNA. 150 female pregnancy|negative regulation of circadian sleep/wake cycle, REM sleep|parturition|positive regulation of circadian sleep/wake cycle, wakefulness|positive regulation of cortisol secretion|signal transduction|synaptic transmission extracellular region|soluble fraction neuropeptide hormone activity breast(1)|endometrium(1)|lung(2)|urinary_tract(1) 5 all_cancers(86;2.58e-06)|all_epithelial(80;6.27e-09)|all_lung(136;0.000414)|Lung NSC(129;0.0011) Epithelial(68;0.0136)|all cancers(69;0.0507)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904) Corticotropin(DB01285) CCGCCTTTCTCTCTCCGGTGC 0.677000 OREG0018805 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 7 11 0 0 0.000978 0 0 HTRA3 94031 broad.mit.edu 37 4 8307709 8307709 + Missense_Mutation SNP A G G TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr4:8307709A>G uc003gla.3 + 8 1415 c.1208A>G c.(1207-1209)cAa>cGa p.Q403R NM_053044 NP_444272 P83110 HTRA3_HUMAN Homo sapiens HtrA serine peptidase 3 (HTRA3), mRNA. 403 PDZ. proteolysis|regulation of cell growth extracellular region insulin-like growth factor binding|serine-type endopeptidase activity central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1) 18 GGCGGCATCCAAGATGGTGAC 0.647000 44 4 0 0 0.000602 0 0 ZNF532 55205 broad.mit.edu 37 18 56585630 56585630 + Missense_Mutation SNP T G G TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr18:56585630T>G uc010xeg.2 + 2 308 c.111T>G c.(109-111)caT>caG p.H37Q ZNF532_uc002lhp.3_Missense_Mutation_p.H35Q|ZNF532_uc002lho.3_Missense_Mutation_p.H37Q|ZNF532_uc002lhr.3_Missense_Mutation_p.H35Q|ZNF532_uc002lhs.3_Missense_Mutation_p.H35Q NM_018181 NP_060651 Q9HCE3 ZN532_HUMAN Homo sapiens zinc finger protein 532 (ZNF532), mRNA. 37 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.D36G(1) breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1) 52 ACGATGACCATGAAAGCCACA 0.493000 29 8 0 0 0.003080 0 0 MS4A1 931 broad.mit.edu 37 11 60233627 60233627 + Missense_Mutation SNP C A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr11:60233627C>A uc009yna.3 + 4 897 c.570C>A c.(568-570)ttC>ttA p.F190L MS4A1_uc009ymz.3_Missense_Mutation_p.F190L|MS4A1_uc010rlc.2_Intron|MS4A1_uc001npp.3_Missense_Mutation_p.F190L|MS4A1_uc001npq.3_Missense_Mutation_p.F190L NM_152866 NP_690605 P11836 CD20_HUMAN Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA. 190 B cell activation|immune response integral to plasma membrane endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081) AATCTCTGTTCTTGGTAAGTG 0.418000 45 9 2.74318e-10 2.42967e-09 0.006214 1 0 ARHGEF12 23365 broad.mit.edu 37 11 120300219 120300219 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr11:120300219G>A uc001pxl.2 + 8 991 c.656G>A c.(655-657)cGg>cAg p.R219Q ARHGEF12_uc009zat.3_Missense_Mutation_p.R200Q|ARHGEF12_uc010rzn.1_Missense_Mutation_p.R116Q|ARHGEF12_uc009zau.1_Missense_Mutation_p.R116Q|ARHGEF12_uc021qrm.1_Missense_Mutation_p.R200Q NM_015313 NP_056128 Q9NZN5 ARHGC_HUMAN Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA. 219 G-protein coupled receptor protein signaling pathway|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2) 61 Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231) GAACAGGAACGGCTACAGGTA 0.358000 T MLL AML 28 21 0 0 0.002299 0 0 BSN 8927 broad.mit.edu 37 3 49700470 49700470 + Missense_Mutation SNP G C C TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr3:49700470G>C uc003cxe.4 + 6 10993 c.10879G>C c.(10879-10881)Ggc>Cgc p.G3627R NM_003458 NP_003449 Q9UPA5 BSN_HUMAN Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA. 3627 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 106 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CCCTGAGGAGGGCCTGTGGCC 0.667000 34 9 0 0 0.008291 0 0 NOL4 8715 broad.mit.edu 37 18 31599485 31599485 + Missense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr18:31599485C>T uc010dmi.3 - 5 1151 c.853G>A c.(853-855)Gag>Aag p.E285K NOL4_uc010xbs.2_5'UTR|NOL4_uc002kxr.4_Missense_Mutation_p.E121K|NOL4_uc010xbt.2_Missense_Mutation_p.E211K|NOL4_uc010dmh.3_Missense_Mutation_p.E211K|NOL4_uc010xbu.2_Missense_Mutation_p.E285K|NOL4_uc002kxt.4_Missense_Mutation_p.E285K|NOL4_uc010xbv.1_Missense_Mutation_p.E34K NM_003787 NP_001185478 O94818 NOL4_HUMAN Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA. 285 nucleolus RNA binding NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 TCTCCCATCTCCCTGCTGTGT 0.507000 36 5 0 0 0.000602 0 0 TACSTD2 4070 broad.mit.edu 37 1 59042177 59042177 + Missense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr1:59042177C>T uc001cyz.4 - 0 990 c.652G>A c.(652-654)Gat>Aat p.D218N NM_002353 NP_002344 P09758 TACD2_HUMAN Homo sapiens tumor-associated calcium signal transducer 2 (TACSTD2), mRNA. 218 cell proliferation|cell surface receptor linked signaling pathway|visual perception cytosol|integral to plasma membrane receptor activity all_cancers(7;6.54e-05) TCGCCGATATCCACGTCACCG 0.652000 9 3 0 0 0.000602 0 0 KCNT1 57582 broad.mit.edu 37 9 138641983 138641983 + Silent SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr9:138641983G>A uc011mdq.2 + 2 368 c.294G>A c.(292-294)aaG>aaA p.K98K KCNT1_uc011mdr.2_5'UTR|KCNT1_uc010nbf.3_Silent_p.K50K NM_020822 NP_065873 B7ZVY4 B7ZVY4_HUMAN Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA. 98 membrane binding|calcium-activated potassium channel activity breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 50 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05) ACACCTTCAAGGAGCGGCTCA 0.607000 2 25 0 0 0.007291 0 0 SYCP2 10388 broad.mit.edu 37 20 58476769 58476769 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr20:58476769G>A uc002yaz.3 - 14 1269 c.1130C>T c.(1129-1131)tCa>tTa p.S377L SYCP2_uc010gju.1_Missense_Mutation_p.S278L NM_014258 NP_055073 Q9BX26 SYCP2_HUMAN Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA. 377 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) GATTTCTAGTGATGCGTCAAA 0.279000 19 13 0 0 0.001855 0 0 KIAA1377 57562 broad.mit.edu 37 11 101833837 101833837 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr11:101833837G>A uc001pgm.3 + 5 2341 c.2071G>A c.(2071-2073)Gag>Aag p.E691K KIAA1377_uc001pgn.3_Missense_Mutation_p.E647K|KIAA1377_uc010run.2_Missense_Mutation_p.E492K|KIAA1377_uc009yxa.1_Missense_Mutation_p.E492K NM_020802 NP_065853 Q9P2H0 K1377_HUMAN Homo sapiens KIAA1377 (KIAA1377), mRNA. 691 protein binding breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2) 53 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) GAAGTCCAGGGAGGATTCTAT 0.383000 53 35 0 0 0.002222 0 0 FRMD5 84978 broad.mit.edu 37 15 44211676 44211676 + Silent SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr15:44211676G>A uc001ztl.3 - 3 487 c.310C>T c.(310-312)Ctg>Ttg p.L104L FRMD5_uc001ztk.1_Silent_p.L15L|FRMD5_uc001ztm.3_5'UTR|FRMD5_uc001ztn.3_5'UTR NM_032892 NP_116281 Q7Z6J6 FRMD5_HUMAN Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA. 104 FERM. cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane cytoskeletal protein binding breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 14 all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275) all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06) TCTTCTTTCAGAGCAGCAGGG 0.517000 85 103 0 0 0.003610 0 0 DSEL 92126 broad.mit.edu 37 18 65180318 65180318 + Missense_Mutation SNP G T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr18:65180318G>T uc002lke.1 - 1 2782 c.1558C>A c.(1558-1560)Cag>Aag p.Q520K DSEL_uc021ulg.1_Missense_Mutation_p.Q520K NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA. 510 integral to membrane isomerase activity|sulfotransferase activity NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2) 74 Esophageal squamous(42;0.129) TTATTACACTGGCTTGAGGGT 0.493000 24 6 8.12818e-05 0.000684977 0.001984 1 0 DDX59 83479 broad.mit.edu 37 1 200635682 200635682 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr1:200635682G>A uc009wzk.3 - 1 430 c.187C>T c.(187-189)Ccc>Tcc p.P63S DDX59_uc010ppl.1_Missense_Mutation_p.P63S NM_001031725 NP_001026895 Q5T1V6 DDX59_HUMAN Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), mRNA. 63 intracellular ATP binding|ATP-dependent helicase activity|RNA binding|metal ion binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3) 21 CCTGGGCTGGGGAAAGGGCAT 0.517000 52 14 0 0 0.002450 0 0 ALPK3 57538 broad.mit.edu 37 15 85400485 85400485 + Missense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr15:85400485C>T uc002ble.3 + 5 3289 c.3122C>T c.(3121-3123)cCc>cTc p.P1041L NM_020778 NP_065829 Q96L96 ALPK3_HUMAN Homo sapiens alpha-kinase 3 (ALPK3), mRNA. 1041 heart development nucleus ATP binding|protein serine/threonine kinase activity NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 BRCA - Breast invasive adenocarcinoma(143;0.0587) TTCCAGTGCCCCAAGGAGGAG 0.642000 11 14 0 0 0.001855 0 0 SLIT3 6586 broad.mit.edu 37 5 168671712 168671712 + Missense_Mutation SNP C T T rs144462879 by1000genomes TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr5:168671712C>T uc010jjg.3 - 2 758 c.338G>A c.(337-339)cGa>cAa p.R113Q SLIT3_uc003mab.3_Missense_Mutation_p.R113Q|SLIT3_uc010jji.2_Missense_Mutation_p.R113Q NM_003062 NP_003053 O75094 SLIT3_HUMAN Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA. 113 Roundabout signaling pathway|apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus extracellular space|mitochondrion Roundabout binding|calcium ion binding p.R113R(1) endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TACTTACAGTCGCTCTAGCTG 0.413000 25 4 0 0 0.000248 0 0 EDDM3A 10876 broad.mit.edu 37 14 21215878 21215878 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr14:21215878G>A uc021rom.1 + 0 139 c.139G>A c.(139-141)Gag>Aag p.E47K EDDM3A_uc001vyc.3_Missense_Mutation_p.E47K NM_006683 NP_006674 Q14507 EP3A_HUMAN Homo sapiens epididymal protein 3A (EDDM3A), mRNA. 47 sperm displacement extracellular space breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1) 6 AGAATTCAAAGAGTACAAATG 0.383000 24 16 0 0 0.004007 0 0 GLYATL2 219970 broad.mit.edu 37 11 58604592 58604592 + Silent SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr11:58604592C>T uc001nnd.4 - 4 503 c.372G>A c.(370-372)caG>caA p.Q124Q GLYATL2_uc009ymq.3_Silent_p.Q124Q NM_145016 NP_659453 Q8WU03 GLYL2_HUMAN Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA. 124 mitochondrion glycine N-acyltransferase activity breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 23 Breast(21;0.0044)|all_epithelial(135;0.0216) Glycine(DB00145) TGTAATCTACCTGCACTGATT 0.393000 25 21 0 0 0.008871 0 0 PENK 5179 broad.mit.edu 37 8 57354022 57354022 + Missense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr8:57354022C>T uc003xsz.2 - 1 694 c.613G>A c.(613-615)Gag>Aag p.E205K PENK_uc003xta.3_Missense_Mutation_p.E205K NM_006211 NP_006202 P01210 PENK_HUMAN Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA. 205 neuropeptide signaling pathway extracellular region neuropeptide hormone activity|opioid peptide activity central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2) 21 all_lung(136;0.229) Epithelial(17;0.000873)|all cancers(17;0.0069) TTCTGCAGCTCTTTGGCTTCA 0.517000 46 33 0 0 0.003271 0 0 ACTRT2 140625 broad.mit.edu 37 1 2938344 2938344 + Silent SNP C A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr1:2938344C>A uc001ajz.3 + 0 299 c.94C>A c.(94-96)Cgg>Agg p.R32R NM_080431 NP_536356 Q8TDY3 ACTT2_HUMAN Homo sapiens actin-related protein T2 (ACTRT2), mRNA. 32 cytoplasm|cytoskeleton breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 26 all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909) all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123) Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125) GTTTGGACCCCGGCACATGGT 0.577000 29 4 2.56e-06 2.20008e-05 0.000248 1 0 LRP2 4036 broad.mit.edu 37 2 169995204 169995204 + Silent SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr2:169995204G>A uc002ues.3 - 74 13614 c.13401C>T c.(13399-13401)ctC>ctT p.L4467L NM_004525 NP_004516 P98164 LRP2_HUMAN Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA. 4467 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome SH3 domain binding|calcium ion binding|receptor activity biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13) 315 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AGGGCTTGACGAGACTGCTTA 0.408000 23 11 0 0 0.001368 0 0 OR1D2 4991 broad.mit.edu 37 17 2995776 2995776 + Missense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr17:2995776C>T uc010vrb.2 - 0 515 c.515G>A c.(514-516)cGa>cAa p.R172Q NM_002548 NP_002539 P34982 OR1D2_HUMAN Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA. 172 cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization integral to plasma membrane olfactory receptor activity kidney(2)|large_intestine(2)|lung(10)|ovary(1) 15 GTGGATTTTTCGTGACCCACA 0.468000 26 10 0 0 0.006214 0 0 HTR3B 9177 broad.mit.edu 37 11 113802112 113802112 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr11:113802112G>A uc001pok.3 + 2 358 c.220G>A c.(220-222)Gag>Aag p.E74K HTR3B_uc001pol.3_Missense_Mutation_p.E63K NM_006028 NP_006019 O95264 5HT3B_HUMAN Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA. 74 synaptic transmission integral to plasma membrane|postsynaptic membrane serotonin receptor activity|serotonin-activated cation-selective channel activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11) 20 all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151) GCAGGATGCAGAGAATCAAAT 0.328000 14 5 0 0 0.003080 0 0 CD4 920 broad.mit.edu 37 12 6909590 6909590 + Missense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr12:6909590C>T uc001qqv.2 + 2 425 c.167C>T c.(166-168)tCc>tTc p.S56F CD4_uc009zfa.2_Intron|CD4_uc009zez.2_Intron|CD4_uc009zfb.2_Intron|CD4_uc010sfj.2_Intron|CD4_uc009zfc.2_Intron|CD4_uc010sfl.2_Intron|CD4_uc010sfk.2_Intron NM_000616 NP_000607 P01730 CD4_HUMAN Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA. 56 Ig-like V-type. T cell costimulation|T cell receptor signaling pathway|T cell selection|cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|transmembrane receptor protein tyrosine kinase signaling pathway T cell receptor complex|early endosome|endoplasmic reticulum membrane|integral to membrane MHC class II protein binding|coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding p.N55N(1) breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1) 23 Myeloproliferative disorder(1001;0.0122) TGGAAAAACTCCAACCAGATA 0.473000 20 8 0 0 0.006214 0 0 STX5 6811 broad.mit.edu 37 11 62592938 62592938 + Missense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr11:62592938C>T uc001nvh.3 - 5 654 c.497G>A c.(496-498)cGg>cAg p.R166Q STX5_uc010rmj.2_Missense_Mutation_p.R166Q|STX5_uc010rmi.2_Missense_Mutation_p.R70Q NM_003164 NP_003155 Q13190 STX5_HUMAN Homo sapiens syntaxin 5 (STX5), transcript variant 1, mRNA. 166 intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting ER-Golgi intermediate compartment membrane|Golgi membrane|SNARE complex|integral to membrane|nucleus SNAP receptor activity|protein N-terminus binding breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2) 18 CTGCAGGTGCCGGCCACTCTG 0.532000 78 6 0 0 0.003080 0 0 GBX2 2637 broad.mit.edu 37 2 237074899 237074899 + Silent SNP G A A rs113681406 TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr2:237074899G>A uc002vvw.1 - 1 743 c.705C>T c.(703-705)agC>agT p.S235S GBX2_uc010zng.1_3'UTR NM_001485 NP_001476 P52951 GBX2_HUMAN Homo sapiens gastrulation brain homeobox 2 (GBX2), mRNA. 235 QAAHKEEDPGHALEETPPSSGA -> PGSSQGGRPGPRGGG DPAEQRR (in Ref. 6). nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(1)|kidney(1)|large_intestine(1)|lung(4) 7 Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179) Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471) CCGCGGCGCCGCTGCTCGGCG 0.662000 40 8 0 0 0.003080 0 0 PLA2G7 7941 broad.mit.edu 37 6 46675875 46675875 + Nonsense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr6:46675875C>T uc010jzf.3 - 9 1162 c.893G>A c.(892-894)tGg>tAg p.W298* PLA2G7_uc021zae.1_Nonsense_Mutation_p.W298* NM_005084 NP_005075 Q13093 PAFA_HUMAN Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA. 298 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) TGGAAACATCCATGCATCCAG 0.358000 32 17 0 0 0.007413 0 0 C6orf58 352999 broad.mit.edu 37 6 127911457 127911457 + Silent SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr6:127911457G>A uc003qbh.3 + 4 912 c.900G>A c.(898-900)gtG>gtA p.V300V NM_001010905 NP_001010905 Q6P5S2 CF058_HUMAN Homo sapiens chromosome 6 open reading frame 58 (C6orf58), mRNA. 300 extracellular region kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1) 15 GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156) TTGACAATGTGGATAAATCTA 0.308000 31 19 0 0 0.001523 0 0 RRBP1 6238 broad.mit.edu 37 20 17614161 17614161 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr20:17614161G>A uc002wpw.1 - 7 1532 c.1255C>T c.(1255-1257)Cgg>Tgg p.R419W RRBP1_uc002wpu.3_Missense_Mutation_p.R193W|RRBP1_uc010gcl.1_Missense_Mutation_p.R193W|RRBP1_uc002wpv.1_Missense_Mutation_p.R419W|RRBP1_uc010gcm.1_Silent_p.S4S NM_004587 NP_004578 Q9P2E9 RRBP1_HUMAN Homo sapiens ribosome binding protein 1 homolog 180kDa (dog) (RRBP1), transcript variant 2, mRNA. 852 41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS]. protein transport|translation|transmembrane transport integral to endoplasmic reticulum membrane|ribosome receptor activity breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6) 28 AGAGCTTTCCGCTGCTGCTCA 0.622000 31 4 0 0 0.000248 0 0 GLT6D1 360203 broad.mit.edu 37 9 138516465 138516465 + Silent SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr9:138516465G>A uc010nbd.1 - 4 563 c.309C>T c.(307-309)ttC>ttT p.F103F NM_182974 NP_892019 Q7Z4J2 GL6D1_HUMAN Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA. 103 carbohydrate metabolic process integral to membrane transferase activity, transferring hexosyl groups endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1) 15 Myeloproliferative disorder(178;0.0821) OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05) AGCCTGTCATGAAGTGCTTAT 0.458000 6 25 0 0 0.006320 0 0 PRIC285 85441 broad.mit.edu 37 20 62192794 62192794 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr20:62192794G>A uc002yfm.2 - 13 7754 c.6862C>T c.(6862-6864)Cgg>Tgg p.R2288W PRIC285_uc002yfl.1_Missense_Mutation_p.R1719W NM_001037335 NP_001032412 Q9BYK8 PR285_HUMAN Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA. 2288 cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm ATP binding|DNA binding|RNA binding|helicase activity|ribonuclease activity|transcription coactivator activity|zinc ion binding NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2) 47 all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13) Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06) GGGGCCTGCCGGATCCGGTGG 0.637000 70 70 0 0 0.003610 0 0 RSPO1 284654 broad.mit.edu 37 1 38082336 38082336 + Missense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr1:38082336C>T uc001cbl.2 - 4 998 c.106G>A c.(106-108)Ggg>Agg p.G36R RSPO1_uc009vvf.2_Missense_Mutation_p.G9R|RSPO1_uc001cbm.2_Missense_Mutation_p.G36R|RSPO1_uc009vvg.2_Missense_Mutation_p.G36R NM_001038633 NP_001229837 Q2MKA7 RSPO1_HUMAN Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA. 36 positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization heparin binding breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5) 12 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164) GCCTGGCTCCCCTCGGCACTG 0.557000 29 22 0 0 0.001882 0 0 PTPRC 5788 broad.mit.edu 37 1 198685933 198685933 + Missense_Mutation SNP A T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr1:198685933A>T uc001gur.1 + 12 1588 c.1408A>T c.(1408-1410)Agt>Tgt p.S470C PTPRC_uc001gut.1_Missense_Mutation_p.S309C|PTPRC_uc009wzf.1_Missense_Mutation_p.S358C|PTPRC_uc021pgy.1_Missense_Mutation_p.S424C|PTPRC_uc010ppg.1_Missense_Mutation_p.S406C NM_002838 NP_002829 P08575 PTPRC_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA. 470 Fibronectin type-III 1. B cell proliferation|B cell receptor signaling pathway|T cell differentiation|T cell receptor signaling pathway|axon guidance|defense response to virus|immunoglobulin biosynthetic process|negative regulation of T cell mediated cytotoxicity|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|positive regulation of B cell proliferation|positive regulation of T cell proliferation|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of protein kinase activity|regulation of S phase|release of sequestered calcium ion into cytosol focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 ACGTAATGGAAGTGCTGCAAT 0.303000 27 21 0 0 0.001523 0 0 FCRLB 127943 broad.mit.edu 37 1 161693304 161693304 + Missense_Mutation SNP T G G TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr1:161693304T>G uc001gbh.3 + 4 434 c.200T>G c.(199-201)cTt>cGt p.L67R FCRLB_uc009wus.3_Missense_Mutation_p.L67R|FCRLB_uc001gbi.3_Missense_Mutation_p.L67R|FCRLB_uc001gbj.3_Missense_Mutation_p.L67R|FCRLB_uc001gbk.3_Missense_Mutation_p.L67R|FCRLB_uc001gbl.3_Missense_Mutation_p.L60R|FCRLB_uc001gbm.3_Missense_Mutation_p.L60R|FCRLB_uc001gbn.4_5'Flank NM_001002901 NP_001002901 Q6BAA4 FCRLB_HUMAN Homo sapiens Fc receptor-like B (FCRLB), mRNA. 67 Ig-like C2-type 1. endoplasmic reticulum central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|skin(1) 17 all_hematologic(112;0.0359) BRCA - Breast invasive adenocarcinoma(70;0.00634) GGCCACCTACTTCTGCCCTCT 0.557000 63 8 0 0 0.003080 0 0 KDR 3791 broad.mit.edu 37 4 55953824 55953824 + Silent SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr4:55953824C>T uc003has.3 - 26 3914 c.3612G>A c.(3610-3612)gaG>gaA p.E1204E KDR_uc003hat.1_Silent_p.E1204E NM_002253 NP_002244 P35968 VGFR2_HUMAN Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA. 1204 angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape integral to plasma membrane ATP binding|Hsp90 protein binding|growth factor binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 135 all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101) Epithelial(7;0.189) Sorafenib(DB00398)|Sunitinib(DB01268) ATACTTCCTCCTCCTCCATAC 0.483000 Mis """NSCLC, angiosarcoma""" TSP Lung(20;0.16) 26 5 0 0 0.000602 0 0 PRSS8 5652 broad.mit.edu 37 16 31144273 31144273 + Splice_Site SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr16:31144273C>T uc002ebc.4 - 4 599 c.267_splice c.e4-1 p.S89_splice PRSS8_uc010vfe.2_Intron NM_002773 NP_002764 Q16651 PRSS8_HUMAN Homo sapiens protease, serine, 8 (PRSS8), mRNA. 89 Peptidase S1. proteolysis extracellular space|integral to membrane|plasma membrane serine-type endopeptidase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1) 8 TTGTGGTGCTCGCTGCAGGCA 0.607000 35 50 0 0 0.003610 0 0 AGBL5 60509 broad.mit.edu 37 2 27280274 27280274 + Missense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr2:27280274C>T uc002rie.3 + 8 1856 c.1639C>T c.(1639-1641)Ccc>Tcc p.P547S AGBL5_uc002rid.3_Missense_Mutation_p.P547S|AGBL5_uc002rif.3_Non-coding_Transcript NM_021831 NP_068603 Q8NDL9 CBPC5_HUMAN Homo sapiens ATP/GTP binding protein-like 5 (AGBL5), transcript variant 1, mRNA. 547 protein branching point deglutamylation|proteolysis cytosol|nucleus metallocarboxypeptidase activity|tubulin binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1) 28 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GCCGGCTTTCCCCTCCAGATA 0.522000 28 46 0 0 0.003610 0 0 OR52M1 119772 broad.mit.edu 37 11 4566516 4566516 + Silent SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr11:4566516C>T uc010qyf.2 + 0 96 c.96C>T c.(94-96)ccC>ccT p.P32P NM_001004137 NP_001004137 Q8NGK5 O52M1_HUMAN Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA. 32 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 18 Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577) Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19) TCTCCATCCCCTTTGGCTCCA 0.542000 55 9 0 0 0.004482 0 0 ANKRD22 118932 broad.mit.edu 37 10 90582732 90582732 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr10:90582732G>A uc001kfj.4 - 5 910 c.542C>T c.(541-543)tCc>tTc p.S181F NM_144590 NP_653191 Q5VYY1 ANR22_HUMAN Homo sapiens ankyrin repeat domain 22 (ANKRD22), mRNA. 181 p.S181F(2) NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(3) 10 Colorectal(252;0.0163) Colorectal(12;6.29e-05)|COAD - Colon adenocarcinoma(12;7.69e-05) TTCAATCTGGGAAAATTTTAA 0.393000 65 16 0 0 0.004990 0 0 TBC1D19 55296 broad.mit.edu 37 4 26638892 26638892 + Silent SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr4:26638892C>T uc003gsf.4 + 4 624 c.354C>T c.(352-354)atC>atT p.I118I TBC1D19_uc010iew.3_Silent_p.I118I|TBC1D19_uc011bxu.2_Silent_p.I53I NM_018317 NP_060787 Q8N5T2 TBC19_HUMAN Homo sapiens TBC1 domain family, member 19 (TBC1D19), mRNA. 118 intracellular Rab GTPase activator activity breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 17 Breast(46;0.0503) AACTGAGTATCCCACTGGCAC 0.303000 9 15 0 0 0.004990 0 0 SERPINB3 6317 broad.mit.edu 37 18 61328390 61328390 + Nonsense_Mutation SNP T A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr18:61328390T>A uc002lji.3 - 1 205 c.61A>T c.(61-63)Aaa>Taa p.K21* SERPINB3_uc002ljg.3_Nonsense_Mutation_p.K21*|SERPINB3_uc010dqa.3_Nonsense_Mutation_p.K21*|SERPINB3_uc010dqb.3_Nonsense_Mutation_p.K21*|SERPINB3_uc010dqc.2_Nonsense_Mutation_p.K21* NM_006919 NP_008850 P29508 SPB3_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA. 21 regulation of proteolysis cytoplasm|extracellular region protein binding|serine-type endopeptidase inhibitor activity breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2) 36 TCTTTTGATTTTCTGAACTGT 0.428000 66 10 0 0 0.008291 0 0 GABRA6 2559 broad.mit.edu 37 5 161116024 161116024 + Missense_Mutation SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr5:161116024G>A uc003lyu.2 + 3 633 c.295G>A c.(295-297)Gag>Aag p.E99K GABRA6_uc003lyv.2_5'Flank NM_000811 NP_000802 Q16445 GBRA6_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA. 99 gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane benzodiazepine receptor activity|chloride channel activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2) 57 Renal(175;0.00259) Medulloblastoma(196;0.0208)|all_neural(177;0.0672) Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683) GGGGCCAACTGAGATTCTGAG 0.418000 TCGA Ovarian(5;0.080) 18 41 0 0 0.003214 0 0 CNOT4 4850 broad.mit.edu 37 7 135048708 135048708 + Missense_Mutation SNP G T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr7:135048708G>T uc011kpy.2 - 10 2069 c.1738C>A c.(1738-1740)Ccc>Acc p.P580T CNOT4_uc011kpz.2_Missense_Mutation_p.P577T|CNOT4_uc003vst.3_Intron|CNOT4_uc003vss.3_Intron NM_001190850 NP_001177779 O95628 CNOT4_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 6, mRNA. 260 nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus RNA binding|nucleotide binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1) 22 GCGTTGGAGGGGGAAGAAGAA 0.532000 163 6 0.00116845 0.00975203 0.001168 1 0 ZNF213 7760 broad.mit.edu 37 16 3188500 3188500 + Missense_Mutation SNP C T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr16:3188500C>T uc010uws.2 + 2 928 c.481C>T c.(481-483)Cgg>Tgg p.R161W ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_3'UTR|ZNF213_uc010bth.3_Missense_Mutation_p.R161W|ZNF213_uc010uwt.2_Missense_Mutation_p.R161W NM_004220 NP_004211 O14771 ZN213_HUMAN Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA. 161 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1) 16 GGTGGGGGCACGGAGGCGGCC 0.672000 21 26 0 0 0.003954 0 0 CR2 1380 broad.mit.edu 37 1 207646442 207646442 + Silent SNP T C C TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr1:207646442T>C uc001hfw.3 + 9 2015 c.1896T>C c.(1894-1896)agT>agC p.S632S CR2_uc001hfv.3_Silent_p.S632S|CR2_uc009xch.3_Silent_p.S632S|CR2_uc009xci.1_Silent_p.S117S NM_001877 NP_001868 P20023 CR2_HUMAN Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA. 632 Sushi 10. complement activation, classical pathway|innate immune response integral to membrane|plasma membrane complement receptor activity|protein homodimerization activity p.Y631F(1)|p.Y631L(1)|p.Y631*(1) NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1) 69 AGTGTTATAGTGGATTTACTT 0.408000 45 14 0 0 0.003163 0 0 ZFP57 346171 broad.mit.edu 37 6 29643801 29643801 + Silent SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr6:29643801G>A uc011dlw.2 - 1 310 c.159C>T c.(157-159)ttC>ttT p.F53F NM_001109809 NP_001103279 Q9NU63 ZFP57_HUMAN Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA. 25 KRAB. DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent DNA binding|zinc ion binding p.F33L(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5) 44 CTTCCTGGGTGAAATTCACTG 0.448000 58 40 0 0 0.003214 0 0 SLC38A10 124565 broad.mit.edu 37 17 79226242 79226242 + Silent SNP G A A TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr17:79226242G>A uc002jzz.1 - 12 2073 c.1698C>T c.(1696-1698)gcC>gcT p.A566A SLC38A10_uc002jzy.1_Silent_p.A484A|SLC38A10_uc002kab.3_Silent_p.A566A NM_001037984 NP_001033073 Q9HBR0 S38AA_HUMAN Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA. 566 amino acid transport|sodium ion transport integral to membrane NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_neural(118;0.0804)|Melanoma(429;0.242) BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117) CCTCCTCCAAGGCCTGGGCCT 0.627000 35 25 0 0 0.008361 0 0 DUSP8 1850 broad.mit.edu 37 11 1577819 1577820 + Frame_Shift_Del DEL CG - - rs61747093 TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr11:1577819_1577820delCG uc001lts.2 - 6 1934_1935 c.1806_1807delCG c.(1804-1809)cgcggcfs p.R602fs MOB2_uc001ltq.2_Intron NM_004420 NP_004411 Q13202 DUS8_HUMAN Homo sapiens dual specificity phosphatase 8 (DUSP8), mRNA. 602 inactivation of MAPK activity cytoplasm|nucleus MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity endometrium(1)|lung(2)|prostate(1)|urinary_tract(1) 5 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 --- 4 --- --- 2 --- DNM1L 10059 broad.mit.edu 37 12 32896297 32896297 + Frame_Shift_Del DEL G - - TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr12:32896297delG uc010skh.1 + 20 2364 c.2362delG c.(2362-2364)ggafs p.G788fs DNM1L_uc001rld.2_Frame_Shift_Del_p.G722fs|DNM1L_uc001rle.2_Frame_Shift_Del_p.G696fs|DNM1L_uc001rlf.2_Frame_Shift_Del_p.G685fs|DNM1L_uc001rlg.2_Frame_Shift_Del_p.G777fs|DNM1L_uc001rlh.2_Frame_Shift_Del_p.G764fs|DNM1L_uc010ski.1_Frame_Shift_Del_p.G519fs NM_012062 NP_036192 O00429 DNM1L_HUMAN Homo sapiens dynamin 1-like (DNM1L), transcript variant 1, mRNA. 722 cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane GTP binding|GTPase activity|ubiquitin protein ligase binding cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1) 23 Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239) GGCATTACAAGGAGCCAGTCA 0.323 --- 21 --- --- 10 --- CLK3 1198 broad.mit.edu 37 15 74908164 74908164 + Frame_Shift_Del DEL G - - TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr15:74908164delG uc010uln.2 + 0 830 c.369delG c.(367-369)gcgfs p.A123fs CLK3_uc002ayg.4_Intron|CLK3_uc002ayh.4_Intron|CLK3_uc010ulm.1_Frame_Shift_Del_p.A123fs|CLK3_uc002ayj.4_5'Flank NM_001130028 NP_003983 P49761 CLK3_HUMAN Homo sapiens CDC-like kinase 3 (CLK3), transcript variant 1, mRNA. 123 acrosomal vesicle|nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1) 15 TGCCACGGGCGGAGGTCGCAG 0.756 --- 4 --- --- 2 --- GNPTG 84572 broad.mit.edu 37 16 1412536 1412537 + Splice_Site INS - T T TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr16:1412536_1412537insT uc002clm.3 + 8 676 c.609_splice c.e8+1 p.Q203_splice NM_032520 NP_115909 Q9UJJ9 GNPTG_HUMAN Homo sapiens N-acetylglucosamine-1-phosphate transferase, gamma subunit (GNPTG), mRNA. 203 Golgi apparatus|extracellular region protein binding breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2) 7 Hepatocellular(780;0.0893) CACCCCCCAGGTAAGCGTGCGC 0.653 --- 10 --- --- 23 --- CBX4 8535 broad.mit.edu 37 17 77808240 77808241 + In_Frame_Ins INS - GTG GTG rs3833850 TCGA-EE-A29W-06A-11D-A196-08 TCGA-EE-A29W-10A-01D-A198-08 Untested Somatic Phase_I WXS none Illumina GAIIx f57a7183-ae50-4516-85d1-da7838f08943 6ef9abc6-ca60-47fd-bb96-d524b15a7ebf g.chr17:77808240_77808241insGTG uc002jxe.3 - 4 1363_1364 c.1200_1201insCAC c.(1198-1203)insCAC p.400_401insH NM_003655 NP_003646 O00257 CBX4_HUMAN Homo sapiens chromobox homolog 4 (CBX4), mRNA. 400 His-rich.|Interaction with BMI1. anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|PcG protein complex enzyme binding|transcription corepressor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1) 18 OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224) AGGCCGACGGCgtggtggtggt 0.703 --- 7 --- --- 4 ---