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 CLCA1 1179 broad.mit.edu 37 1 86954794 86954794 + Missense_Mutation SNP A G G TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr1:86954794A>G uc001dlt.2 + 8 1427 c.1298A>G c.(1297-1299)CAC>CGC p.H433R CLCA1_uc001dls.1_Missense_Mutation_p.H372R NM_001285 NP_001276 A8K7I4 CLCA1_HUMAN chloride channel accessory 1 precursor 433 VWFA. calcium ion transport extracellular space|integral to plasma membrane chloride channel activity ovary(1) 1 Lung NSC(277;0.239) all cancers(265;0.0249)|Epithelial(280;0.0476) GCCATCATCCACACAGTCGCT 0.473 DCLRE1B 64858 broad.mit.edu 37 1 114454356 114454356 + Nonsense_Mutation SNP G A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr1:114454356G>A uc001eeg.2 + 4 1313 c.1142G>A c.(1141-1143)TGG>TAG p.W381* DCLRE1B_uc001eeh.2_Nonsense_Mutation_p.W255*|DCLRE1B_uc001eei.2_Nonsense_Mutation_p.W255* NM_022836 NP_073747 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B (PSO2 homolog, S. 381 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding 0 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTTTCTCCCTGGCCTGCGGAC 0.483 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function HMCN1 83872 broad.mit.edu 37 1 186120829 186120829 + Silent SNP C A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr1:186120829C>A uc001grq.1 + 95 15079 c.14850C>A c.(14848-14850)CTC>CTA p.L4950L HMCN1_uc001grs.1_Silent_p.L519L NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4950 Nidogen G2 beta-barrel. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 GCTTTACCCTCACCAATGCAG 0.348 PLA2G4A 5321 broad.mit.edu 37 1 186948519 186948519 + Missense_Mutation SNP T G G TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr1:186948519T>G uc001gsc.2 + 17 2238 c.2033T>G c.(2032-2034)TTT>TGT p.F678C PLA2G4A_uc010pos.1_Missense_Mutation_p.F618C NM_024420 NP_077734 P47712 PA24A_HUMAN cytosolic phospholipase A2, group IVA 678 PLA2c. phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation cytosol|endoplasmic reticulum membrane calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity lung(2)|breast(1) 3 Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103) GAATCACCATTTTCAACCTTC 0.358 ALX4 60529 broad.mit.edu 37 11 44297101 44297101 + Frame_Shift_Del DEL C - - TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr11:44297101delC uc001myb.2 - 2 678 c.574delG c.(574-576)GACfs p.D192fs NM_021926 NP_068745 Q9H161 ALX4_HUMAN aristaless-like homeobox 4 192 hair follicle development 0 CTGGCCCGGTCCTGGGGCCCC 0.632 LOC440040 440040 broad.mit.edu 37 11 49598156 49598156 + Missense_Mutation SNP C T T TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr11:49598156C>T uc010rhy.1 + 2 747 c.269C>T c.(268-270)TCG>TTG p.S90L LOC440040_uc009ymb.2_Missense_Mutation_p.S90L NR_027044 SubName: Full=cDNA FLJ60249, highly similar to Metabotropic glutamate receptor 5; 0 CTCATTTCTTCGGAAGAGGAA 0.532 NCAM1 4684 broad.mit.edu 37 11 113076266 113076266 + Missense_Mutation SNP C T T TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr11:113076266C>T uc009yyq.1 + 4 708 c.14C>T c.(13-15)GCG>GTG p.A5V NCAM1_uc001pno.2_Missense_Mutation_p.A5V NM_001076682 NP_001070150 P13591 NCAM1_HUMAN neural cell adhesion molecule 1 isoform 3 123 Ig-like C2-type 2.|Extracellular (Potential). axon guidance|interferon-gamma-mediated signaling pathway anchored to membrane|extracellular region|Golgi membrane|integral to membrane ovary(1) 1 all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207) BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212) TTCAAGAATGCGCCAACCCCA 0.522 FAM55A 120400 broad.mit.edu 37 11 114400948 114400948 + Missense_Mutation SNP C T T rs150857743 byFrequency TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr11:114400948C>T uc001ppa.2 - 3 773 c.356G>A c.(355-357)CGG>CAG p.R119Q FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.R261Q NM_152315 NP_689528 Q8N323 FA55A_HUMAN hypothetical protein LOC120400 261 extracellular region 0 all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906) BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106) CTCTCTATTCCGGGTGGTCAT 0.458 CD163L1 283316 broad.mit.edu 37 12 7531814 7531814 + Missense_Mutation SNP C T T TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr12:7531814C>T uc001qsy.2 - 9 2157 c.2131G>A c.(2131-2133)GTG>ATG p.V711M CD163L1_uc010sge.1_Missense_Mutation_p.V721M NM_174941 NP_777601 Q9NR16 C163B_HUMAN scavenger receptor cysteine-rich type 1 711 SRCR 7.|Extracellular (Potential). extracellular region|integral to membrane|plasma membrane scavenger receptor activity ovary(8)|skin(2)|central_nervous_system(1) 11 AGAATTCCCACGGCACCCTGG 0.502 PPM1H 57460 broad.mit.edu 37 12 63195712 63195712 + Missense_Mutation SNP C T T TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr12:63195712C>T uc001srk.3 - 3 789 c.640G>A c.(640-642)GGA>AGA p.G214R NM_020700 NP_065751 Q9ULR3 PPM1H_HUMAN protein phosphatase 1H (PP2C domain containing) 214 PP2C-like. phosphoprotein phosphatase activity lung(3)|ovary(1) 4 GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209) GBM - Glioblastoma multiforme(28;0.0126) CCCACCCCTCCGCGCAGGGAG 0.682 ATP11A 23250 broad.mit.edu 37 13 113527920 113527920 + Missense_Mutation SNP A T T TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr13:113527920A>T uc001vsi.3 + 27 3179 c.3091A>T c.(3091-3093)AAC>TAC p.N1031Y ATP11A_uc001vsj.3_Missense_Mutation_p.N1031Y|ATP11A_uc010ago.2_RNA NM_015205 NP_056020 P98196 AT11A_HUMAN ATPase, class VI, type 11A isoform a 1031 Helical; (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity large_intestine(2)|ovary(2) 4 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) all_lung(25;0.134)|all_epithelial(44;0.141) GACTTGGATCAACCATTTTGT 0.448 OREG0003854 type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay Unknown 0 broad.mit.edu 37 14 22337438 22337438 + Frame_Shift_Del DEL A - - TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr14:22337438delA uc010tmf.1 + 2 311 c.232delA c.(232-234)AAAfs p.K78fs uc001wbw.2_Intron|uc010tmg.1_Intron|uc010tmh.1_Frame_Shift_Del_p.K77fs|uc001wby.2_Intron SubName: Full=Putative uncharacterized protein ENSP00000374943; GGGCGAAAAGAAAGACCAACG 0.433 AK7 122481 broad.mit.edu 37 14 96953242 96953242 + Missense_Mutation SNP G A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr14:96953242G>A uc001yfn.2 + 17 2026 c.1982G>A c.(1981-1983)CGA>CAA p.R661Q NM_152327 NP_689540 Q96M32 KAD7_HUMAN adenylate kinase 7 661 Potential.|Glu-rich. cell projection organization cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity ovary(1) 1 all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155) Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228) TAGAATAAACGACTGGAGGAA 0.393 RYR3 6263 broad.mit.edu 37 15 33944995 33944995 + Missense_Mutation SNP G A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr15:33944995G>A uc001zhi.2 + 32 4289 c.4219G>A c.(4219-4221)GTG>ATG p.V1407M RYR3_uc010bar.2_Missense_Mutation_p.V1407M NM_001036 NP_001027 Q15413 RYR3_HUMAN ryanodine receptor 3 1407 4 X approximate repeats.|B30.2/SPRY 3.|Cytoplasmic (By similarity). cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(5)|central_nervous_system(4)|lung(1) 10 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) TCGGAGCAACGTGGACCTGGA 0.557 ZSCAN29 146050 broad.mit.edu 37 15 43658464 43658464 + Missense_Mutation SNP C T T TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr15:43658464C>T uc001zrk.1 - 3 1213 c.1066G>A c.(1066-1068)GAT>AAT p.D356N ZSCAN29_uc001zrj.1_Missense_Mutation_p.D236N|ZSCAN29_uc010bdf.1_Missense_Mutation_p.D355N|ZSCAN29_uc001zrl.1_RNA|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc001zrm.2_Missense_Mutation_p.D355N NM_152455 NP_689668 Q8IWY8 ZSC29_HUMAN zinc finger protein 690 356 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(1) 1 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;8.97e-07) GTCTCAGCATCGCTGCCTACC 0.572 SLC28A2 9153 broad.mit.edu 37 15 45555359 45555359 + Silent SNP G A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr15:45555359G>A uc001zva.2 + 5 428 c.363G>A c.(361-363)TCG>TCA p.S121S NM_004212 NP_004203 O43868 S28A2_HUMAN solute carrier family 28 (sodium-coupled 121 Helical; (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to plasma membrane|membrane fraction nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity ovary(4) 4 all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417) all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06) TGGTTCACTCGTTTTTGAAAA 0.458 WASH3P 374666 broad.mit.edu 37 15 102515299 102515299 + Missense_Mutation SNP G A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr15:102515299G>A uc002cdi.2 + 9 1943 c.523G>A c.(523-525)GGC>AGC p.G175S WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA NR_003659 RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2; 0 TGGGGGCATCGGCAAGGCCAA 0.652 GRIN2A 2903 broad.mit.edu 37 16 10273879 10273879 + Silent SNP G A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr16:10273879G>A uc002czo.3 - 2 938 c.390C>T c.(388-390)GGC>GGT p.G130G GRIN2A_uc010uym.1_Silent_p.G130G|GRIN2A_uc002czr.3_Silent_p.G130G|GRIN2A_uc010buk.2_Silent_p.G130G NM_001134407 NP_001127879 Q12879 NMDE1_HUMAN N-methyl-D-aspartate receptor subunit 2A isoform 130 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding skin(32)|NS(5)|ovary(4)|large_intestine(1)|lung(1)|breast(1)|kidney(1) 45 Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043) TCATAGATGCGCCCCCATGAA 0.597 HS3ST3A1 9955 broad.mit.edu 37 17 13400088 13400088 + Missense_Mutation SNP G A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr17:13400088G>A uc002gob.1 - 2 1445 c.647C>T c.(646-648)ACG>ATG p.T216M NM_006042 NP_006033 Q9Y663 HS3SA_HUMAN heparan sulfate D-glucosaminyl 216 Substrate binding.|Lumenal (Potential). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 3 activity ovary(1)|central_nervous_system(1) 2 all_lung(20;0.114) UCEC - Uterine corpus endometrioid carcinoma (92;0.101) GTAACTGGGCGTCTTCTCCAT 0.622 HEXIM1 10614 broad.mit.edu 37 17 43226653 43226653 + Frame_Shift_Del DEL C - - TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr17:43226653delC uc002iig.2 + 1 1970 c.96delC c.(94-96)CGCfs p.R32fs NM_006460 NP_006451 O94992 HEXI1_HUMAN hexamethylene bis-acetamide inducible 1 32 negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|nucleus cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding ovary(1) 1 ACCCTGAGCGCCCCCCAGGCG 0.632 OREG0024474 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ABCA9 10350 broad.mit.edu 37 17 67016638 67016638 + Missense_Mutation SNP C T T TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr17:67016638C>T uc002jhu.2 - 19 2634 c.2491G>A c.(2491-2493)GAA>AAA p.E831K ABCA9_uc010dez.2_Missense_Mutation_p.E831K NM_080283 NP_525022 Q8IUA7 ABCA9_HUMAN ATP-binding cassette, sub-family A, member 9 831 transport integral to membrane ATP binding|ATPase activity ovary(4)|upper_aerodigestive_tract(1)|central_nervous_system(1) 6 Breast(10;1.47e-12) TTCCTTGTTTCGTGGAAGGAA 0.413 LIPG 9388 broad.mit.edu 37 18 47101837 47101837 + Missense_Mutation SNP C T T TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr18:47101837C>T uc002ldv.2 + 5 922 c.670C>T c.(670-672)CGT>TGT p.R224C LIPG_uc002ldu.1_Missense_Mutation_p.R224C|LIPG_uc010xdh.1_Intron NM_006033 NP_006024 Q9Y5X9 LIPE_HUMAN endothelial lipase precursor 224 cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport extracellular space heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity ovary(1)|skin(1) 2 CACCTACACGCGTTCCTTCGG 0.557 TUBB4 10382 broad.mit.edu 37 19 6495585 6495585 + Missense_Mutation SNP G A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr19:6495585G>A uc002mfg.1 - 4 1032 c.925C>T c.(925-927)CGC>TGC p.R309C TUBB4_uc002mff.1_Missense_Mutation_p.R237C|MIR220B_hsa-mir-220b|MI0005529_5'Flank NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 309 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) GTCAGGTAGCGGCCGTGGCGC 0.662 MUC16 94025 broad.mit.edu 37 19 9073488 9073488 + Missense_Mutation SNP G T T TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr19:9073488G>T uc002mkp.2 - 3 14162 c.13958C>A c.(13957-13959)ACA>AAA p.T4653K NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 4655 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 TGGGAACTTTGTTGACTGAGC 0.458 GRAMD1A 57655 broad.mit.edu 37 19 35500871 35500871 + Missense_Mutation SNP T C C TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr19:35500871T>C uc010xse.1 + 4 457 c.320T>C c.(319-321)ATT>ACT p.I107T GRAMD1A_uc002nxi.1_Missense_Mutation_p.I194T|GRAMD1A_uc002nxk.2_Missense_Mutation_p.I100T|GRAMD1A_uc002nxl.2_5'UTR|GRAMD1A_uc010xsf.1_Missense_Mutation_p.I112T NM_020895 NP_065946 Q96CP6 GRM1A_HUMAN GRAM domain containing 1A isoform 1 107 GRAM. integral to membrane 0 all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0849) GAACGCCTCATTGTGGGTGAG 0.607 ZNF610 162963 broad.mit.edu 37 19 52868955 52868955 + Silent SNP G A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr19:52868955G>A uc002pyx.3 + 6 730 c.324G>A c.(322-324)AGG>AGA p.R108R ZNF610_uc002pyy.3_Silent_p.R108R|ZNF610_uc002pyz.3_Silent_p.R65R|ZNF610_uc002pza.2_Silent_p.R108R NM_001161426 NP_001154898 Q8N9Z0 ZN610_HUMAN zinc finger protein 610 isoform a 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|upper_aerodigestive_tract(1) 3 OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434) TTCTAGGGAGGAGCTGTGTAT 0.453 PTPRH 5794 broad.mit.edu 37 19 55693262 55693262 + Missense_Mutation SNP C T T rs140496718 TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr19:55693262C>T uc002qjq.2 - 20 3281 c.3208G>A c.(3208-3210)GTA>ATA p.V1070I PTPRH_uc010esv.2_Missense_Mutation_p.V892I|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank NM_002842 NP_002833 Q9HD43 PTPRH_HUMAN protein tyrosine phosphatase, receptor type, H 1070 Cytoplasmic (Potential).|Tyrosine-protein phosphatase. apoptosis cytoplasm|integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(2)|large_intestine(1)|skin(1) 4 Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0479) TGCAGGAATACGTACTGAGCC 0.622 NT5C1B 93034 broad.mit.edu 37 2 18766137 18766137 + Silent SNP C T T TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr2:18766137C>T uc002rcz.2 - 5 650 c.546G>A c.(544-546)TCG>TCA p.S182S NT5C1B_uc002rcy.2_Silent_p.S182S|NT5C1B_uc010exr.2_Silent_p.S124S|NT5C1B_uc010yju.1_Silent_p.S122S|NT5C1B_uc002rda.2_Silent_p.S122S|NT5C1B_uc010yjv.1_Silent_p.S199S|NT5C1B_uc010yjw.1_Silent_p.S165S|NT5C1B_uc010exs.2_Silent_p.S184S|NT5C1B_uc002rdb.1_5'UTR NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 182 Pro-rich. purine base metabolic process|purine nucleotide catabolic process cytosol 5'-nucleotidase activity|magnesium ion binding|nucleotide binding skin(2)|ovary(1) 3 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177) Ovarian(717;0.208) GCAGCTGGGGCGACGCGGGTG 0.716 IL18R1 8809 broad.mit.edu 37 2 102988458 102988459 + Frame_Shift_Del DEL AC - - TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr2:102988458_102988459delAC uc002tbw.3 + 4 498_499 c.348_349delAC c.(346-351)AAACACfs p.K116fs IL18R1_uc010ywb.1_Frame_Shift_Del_p.K116fs|IL18R1_uc010ywc.1_Frame_Shift_Del_p.K116fs|IL18R1_uc010ywd.1_5'UTR|IL18R1_uc010fiy.2_Frame_Shift_Del_p.K116fs NM_003855 NP_003846 Q13478 IL18R_HUMAN interleukin 18 receptor 1 precursor 116_117 Ig-like C2-type 1.|Extracellular (Potential). innate immune response integral to membrane|plasma membrane interleukin-1 receptor activity ovary(2)|pancreas(1) 3 GAAGAAATAAACACAGCTGTTT 0.277 DDX11L2 84771 broad.mit.edu 37 2 114357557 114357557 + Nonstop_Mutation SNP A G G rs115341812 by1000genomes TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr2:114357557A>G uc010yxx.1 - 3 709 c.382T>C c.(382-384)TAG>CAG p.*128Q SubName: Full=DEAD/H box polypeptide 11 like 2; 0 GCCTACTTCTAGTGAAACTGG 0.567 CALCRL 10203 broad.mit.edu 37 2 188223966 188223966 + Missense_Mutation SNP A T T TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr2:188223966A>T uc002upv.3 - 11 1363 c.815T>A c.(814-816)ATT>AAT p.I272N CALCRL_uc010frt.2_Missense_Mutation_p.I272N NM_005795 NP_005786 Q16602 CALRL_HUMAN calcitonin receptor-like precursor 272 Helical; Name=4; (Potential). integral to plasma membrane lung(3)|ovary(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227) GCTTCTAGCAATGGCATGTAT 0.244 BMPR2 659 broad.mit.edu 37 2 203397336 203397336 + Missense_Mutation SNP A G G TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr2:203397336A>G uc002uzf.3 + 9 2305 c.1157A>G c.(1156-1158)GAA>GGA p.E386G BMPR2_uc010ftr.2_Missense_Mutation_p.E386G NM_001204 NP_001195 Q13873 BMPR2_HUMAN bone morphogenetic protein receptor type II 386 Protein kinase.|Cytoplasmic (Potential). anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway integral to plasma membrane ATP binding|metal ion binding|transforming growth factor beta receptor activity ovary(4)|breast(2)|large_intestine(1)|stomach(1)|pancreas(1) 9 ATGGCACCAGAAGTGCTAGAA 0.318 SCG2 7857 broad.mit.edu 37 2 224463759 224463759 + Missense_Mutation SNP T C C TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr2:224463759T>C uc002vnm.2 - 2 375 c.242A>G c.(241-243)TAC>TGC p.Y81C NM_003469 NP_003460 P13521 SCG2_HUMAN secretogranin II precursor 81 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity ovary(1) 1 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) GACACCTTGGTAGGGATTATA 0.448 ANGPT4 51378 broad.mit.edu 37 20 853677 853677 + Missense_Mutation SNP G A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr20:853677G>A uc002wei.2 - 9 1541 c.1438C>T c.(1438-1440)CGC>TGC p.R480C ANGPT4_uc010zpn.1_3'UTR NM_015985 NP_057069 Q9Y264 ANGP4_HUMAN angiopoietin 4 precursor 480 Fibrinogen C-terminal. anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction extracellular space receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity ovary(2) 2 TAGTGCCAGCGGATGCCGTCC 0.587 MOCS3 27304 broad.mit.edu 37 20 49576424 49576424 + Missense_Mutation SNP G C C TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr20:49576424G>C uc002xvy.1 + 1 1062 c.1045G>C c.(1045-1047)GCA>CCA p.A349P DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank NM_014484 NP_055299 O95396 MOCS3_HUMAN molybdenum cofactor synthesis 3 349 Rhodanese. enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity skin(2)|ovary(1) 3 GGATTCTGGGGCATTCCACCT 0.552 SFRS15 57466 broad.mit.edu 37 21 33044257 33044259 + In_Frame_Del DEL GCT - - TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr21:33044257_33044259delGCT uc002ypd.2 - 20 3323_3325 c.2897_2899delAGC c.(2896-2901)CAGCCA>CCA p.Q966del SFRS15_uc002ype.2_In_Frame_Del_p.Q944del|SFRS15_uc010glu.2_In_Frame_Del_p.Q951del NM_020706 NP_065757 O95104 SFR15_HUMAN splicing factor, arginine/serine-rich 15 isoform 966 Poly-Gln. nucleus nucleotide binding|RNA binding 0 GATGGTGgtggctgctgctgctg 0.291 TRPM2 7226 broad.mit.edu 37 21 45798938 45798938 + Missense_Mutation SNP G A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr21:45798938G>A uc002zet.1 + 9 1286 c.1073G>A c.(1072-1074)CGC>CAC p.R358H TRPM2_uc002zeu.1_Missense_Mutation_p.R358H|TRPM2_uc002zew.1_Missense_Mutation_p.R358H|TRPM2_uc010gpt.1_Missense_Mutation_p.R358H|TRPM2_uc002zex.1_Missense_Mutation_p.R144H NM_003307 NP_003298 O94759 TRPM2_HUMAN transient receptor potential cation channel, 358 Cytoplasmic (Potential). integral to plasma membrane ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 GGCTCGGGCCGCGTGGCCGAC 0.622 OR5K4 403278 broad.mit.edu 37 3 98072818 98072818 + Missense_Mutation SNP G A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr3:98072818G>A uc011bgv.1 + 1 121 c.121G>A c.(121-123)GGG>AGG p.G41R NM_001005517 NP_001005517 A6NMS3 OR5K4_HUMAN olfactory receptor, family 5, subfamily K, 41 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 CACCATGGTGGGGAATCTTGG 0.458 ADAM29 11086 broad.mit.edu 37 4 175897608 175897608 + Missense_Mutation SNP G A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr4:175897608G>A uc003iuc.2 + 5 1602 c.932G>A c.(931-933)CGT>CAT p.R311H ADAM29_uc003iud.2_Missense_Mutation_p.R311H|ADAM29_uc010irr.2_Missense_Mutation_p.R311H|ADAM29_uc011cki.1_Missense_Mutation_p.R311H NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 311 Peptidase M12B.|Extracellular (Potential). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding skin(5)|central_nervous_system(3)|ovary(3)|large_intestine(2)|lung(2)|pancreas(1) 16 Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286) ACACCACACCGTAGTTGTGCA 0.428 SLC6A3 6531 broad.mit.edu 37 5 1409844 1409844 + Missense_Mutation SNP C T T rs140401978 TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr5:1409844C>T uc003jck.2 - 10 1511 c.1390G>A c.(1390-1392)GTC>ATC p.V464I NM_001044 NP_001035 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter 464 Helical; Name=9; (Potential). cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body ovary(3)|breast(2)|pancreas(1) 6 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) ACGTTGGTGACGCAGAACAGG 0.612 ZFYVE16 9765 broad.mit.edu 37 5 79768699 79768699 + Missense_Mutation SNP G A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr5:79768699G>A uc003kgr.3 + 16 4446 c.4144G>A c.(4144-4146)GTG>ATG p.V1382M ZFYVE16_uc003kgq.3_Missense_Mutation_p.V1382M|ZFYVE16_uc003kgs.3_Missense_Mutation_p.V1382M|ZFYVE16_uc003kgt.3_Missense_Mutation_p.V470M|ZFYVE16_uc003kgu.3_Missense_Mutation_p.V134M NM_001105251 NP_001098721 Q7Z3T8 ZFY16_HUMAN zinc finger, FYVE domain containing 16 1382 BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization early endosome membrane 1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity 0 Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261) OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36) GAGAGAATACGTGGATATCTG 0.368 ACOT12 134526 broad.mit.edu 37 5 80643625 80643625 + Silent SNP C T T rs150238683 byFrequency TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr5:80643625C>T uc003khl.3 - 6 676 c.621G>A c.(619-621)GCG>GCA p.A207A RNU5E_uc011cto.1_Intron NM_130767 NP_570123 Q8WYK0 ACO12_HUMAN acyl-CoA thioesterase 12 207 Acyl coenzyme A hydrolase 2. acyl-CoA metabolic process|fatty acid metabolic process cytosol acetyl-CoA hydrolase activity|carboxylesterase activity ovary(1)|kidney(1) 2 Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135) OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34) TCTCCATCCACGCCATAATCT 0.502 PCSK1 5122 broad.mit.edu 37 5 95735874 95735874 + Nonsense_Mutation SNP G A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr5:95735874G>A uc003kls.1 - 10 1419 c.1213C>T c.(1213-1215)CGA>TGA p.R405* PCSK1_uc010jbi.1_Nonsense_Mutation_p.R95* NM_000439 NP_000430 P29120 NEC1_HUMAN proprotein convertase subtilisin/kexin type 1 405 Catalytic. cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion extracellular space|stored secretory granule|transport vesicle serine-type endopeptidase activity ovary(2) 2 all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244) all cancers(79;3.44e-16) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) TGCATATCTCGCCAGGTGAGA 0.478 PCDHA9 9752 broad.mit.edu 37 5 140230084 140230084 + Silent SNP G A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr5:140230084G>A uc003lhu.2 + 1 2728 c.2004G>A c.(2002-2004)TCG>TCA p.S668S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lht.1_Silent_p.S668S NM_031857 NP_114063 Q9Y5H5 PCDA9_HUMAN protocadherin alpha 9 isoform 1 precursor 668 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding|protein binding p.S668L(1) large_intestine(2)|ovary(2)|skin(1) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TGCTGGTGTCGCTGGTGGAGA 0.677 PCDHGA12 26025 broad.mit.edu 37 5 140811313 140811313 + Silent SNP G A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr5:140811313G>A uc003lkt.1 + 1 1156 c.987G>A c.(985-987)GCG>GCA p.A329A PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkd.1_Intron|PCDHGB5_uc003lkf.1_Intron|PCDHGA9_uc003lkh.1_Intron|PCDHGB6_uc003lkj.1_Intron|PCDHGA10_uc003lkl.1_Intron|PCDHGB7_uc003lkn.1_Intron|PCDHGA11_uc003lkp.1_Intron|PCDHGA11_uc003lkq.1_Intron|PCDHGA12_uc011dba.1_Silent_p.A329A NM_003735 NP_003726 O60330 PCDGC_HUMAN protocadherin gamma subfamily A, 12 isoform 1 329 Cadherin 3.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GATATTCTGCGCGAGCCAAAG 0.512 FAM50B 26240 broad.mit.edu 37 6 3850733 3850733 + Missense_Mutation SNP G A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr6:3850733G>A uc003mvu.2 + 2 800 c.688G>A c.(688-690)GCC>ACC p.A230T NM_012135 NP_036267 Q9Y247 FA50B_HUMAN family with sequence similarity 50, member B 230 nucleus pancreas(1) 1 Ovarian(93;0.0925) all_hematologic(90;0.108) GCTGCGCTCCGCCGGCGTGGA 0.652 GPX5 2880 broad.mit.edu 37 6 28497327 28497327 + Missense_Mutation SNP C T T TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr6:28497327C>T uc003nll.2 + 2 189 c.187C>T c.(187-189)CAC>TAC p.H63Y GPX5_uc003nlm.2_Missense_Mutation_p.H63Y|GPX5_uc003nln.2_RNA NM_001509 NP_001500 O75715 GPX5_HUMAN glutathione peroxidase 5 isoform 1 precursor 63 lipid metabolic process|response to oxidative stress extracellular region glutathione peroxidase activity skin(1) 1 Glutathione(DB00143) TGTGGGCAAGCACATCCTCTT 0.443 FAM83B 222584 broad.mit.edu 37 6 54805279 54805279 + Missense_Mutation SNP C T T rs115872183 byFrequency TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr6:54805279C>T uc003pck.2 + 5 1626 c.1510C>T c.(1510-1512)CAT>TAT p.H504Y NM_001010872 NP_001010872 Q5T0W9 FA83B_HUMAN hypothetical protein LOC222584 504 ovary(6) 6 Lung NSC(77;0.0178)|Renal(3;0.122) CTTAAATGATCATTCAGAAGC 0.408 DNAH11 8701 broad.mit.edu 37 7 21658736 21658736 + Missense_Mutation SNP G A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr7:21658736G>A uc003svc.2 + 24 4319 c.4288G>A c.(4288-4290)GAA>AAA p.E1430K NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1430 Stem (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(8)|large_intestine(3)|pancreas(3)|central_nervous_system(1) 15 TTTAATAAATGAAGCCACAAC 0.418 Kartagener_syndrome EGFR 1956 broad.mit.edu 37 7 55211079 55211079 + Missense_Mutation SNP A G G TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr7:55211079A>G uc003tqk.2 + 3 568 c.322A>G c.(322-324)AGA>GGA p.R108G EGFR_uc003tqh.2_Missense_Mutation_p.R108G|EGFR_uc003tqi.2_Missense_Mutation_p.R108G|EGFR_uc003tqj.2_Missense_Mutation_p.R108G|EGFR_uc010kzg.1_Missense_Mutation_p.R108G|EGFR_uc011kco.1_Missense_Mutation_p.R55G NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 108 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.R108K(7)|p.V30_R297>G(5) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GCAGATCATCAGAGGAAATAT 0.418 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55223543 55223543 + Missense_Mutation SNP C T T TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr7:55223543C>T uc003tqk.2 + 8 1156 c.910C>T c.(910-912)CAC>TAC p.H304Y EGFR_uc003tqh.2_Missense_Mutation_p.H304Y|EGFR_uc003tqi.2_Missense_Mutation_p.H304Y|EGFR_uc003tqj.2_Missense_Mutation_p.H304Y|EGFR_uc010kzg.1_Missense_Mutation_p.H259Y|EGFR_uc011kco.1_Missense_Mutation_p.H251Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 304 Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) GGTGACAGATCACGGCTCGTG 0.592 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) EGFR 1956 broad.mit.edu 37 7 55233043 55233043 + Missense_Mutation SNP G T T rs139236063 TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr7:55233043G>T uc003tqk.2 + 15 2039 c.1793G>T c.(1792-1794)GGA>GTA p.G598V EGFR_uc003tqi.2_Missense_Mutation_p.G598V|EGFR_uc003tqj.2_Missense_Mutation_p.G598V|EGFR_uc010kzg.1_Missense_Mutation_p.G553V|EGFR_uc011kco.1_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_RNA|EGFR_uc003tqn.2_RNA NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 598 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.G598V(16) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) TGCCCGGCAGGAGTCATGGGA 0.567 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) PCLO 27445 broad.mit.edu 37 7 82585035 82585035 + Missense_Mutation SNP G A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr7:82585035G>A uc003uhx.2 - 5 5523 c.5234C>T c.(5233-5235)CCG>CTG p.P1745L PCLO_uc003uhv.2_Missense_Mutation_p.P1745L NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1676 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 TTTGTGACTCGGGCTACTGTC 0.488 DYNC1I1 1780 broad.mit.edu 37 7 95442583 95442583 + Missense_Mutation SNP C T T TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr7:95442583C>T uc003uoc.3 + 4 576 c.299C>T c.(298-300)TCG>TTG p.S100L DYNC1I1_uc003uod.3_Missense_Mutation_p.S83L|DYNC1I1_uc003uob.2_Missense_Mutation_p.S83L|DYNC1I1_uc003uoe.3_Missense_Mutation_p.S100L|DYNC1I1_uc010lfl.2_Missense_Mutation_p.S89L NM_004411 NP_004402 O14576 DC1I1_HUMAN dynein, cytoplasmic 1, intermediate chain 1 100 Interaction with DCTN1 (By similarity). vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity ovary(3)|kidney(1) 4 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) TCTCCCTCCTCGAAATCAGTG 0.468 OR2A7 401427 broad.mit.edu 37 7 143956670 143956670 + Missense_Mutation SNP C T T TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr7:143956670C>T uc011kuc.1 - 1 52 c.52G>A c.(52-54)GTT>ATT p.V18I OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.2_3'UTR NM_001005328 NP_001005328 Q96R45 OR2A7_HUMAN olfactory receptor, family 2, subfamily A, 18 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Melanoma(164;0.14) CTTGGGCCAACGGGAAATCCC 0.498 MTUS1 57509 broad.mit.edu 37 8 17503489 17503489 + Missense_Mutation SNP C A A TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr8:17503489C>A uc003wxv.2 - 15 4233 c.3759G>T c.(3757-3759)TTG>TTT p.L1253F MTUS1_uc003wxt.2_Missense_Mutation_p.L500F|MTUS1_uc011kyg.1_Missense_Mutation_p.L398F|MTUS1_uc010lsy.2_RNA|MTUS1_uc003wxw.2_Missense_Mutation_p.L1199F|MTUS1_uc003wxs.2_Missense_Mutation_p.L419F NM_001001924 NP_001001924 Q9ULD2 MTUS1_HUMAN mitochondrial tumor suppressor 1 isoform 1 1253 Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle ovary(1)|skin(1) 2 Colorectal(111;0.0778) TTGGTGACTGCAAAGGGATGG 0.537 TG 7038 broad.mit.edu 37 8 133925395 133925395 + Silent SNP C T T TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr8:133925395C>T uc003ytw.2 + 20 4304 c.4263C>T c.(4261-4263)ACC>ACT p.T1421T TG_uc010mdw.2_Silent_p.T180T NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1421 hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation extracellular space hormone activity ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1) 15 Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735) BRCA - Breast invasive adenocarcinoma(115;0.000701) KIRC - Kidney renal clear cell carcinoma(542;0.0546) CAGCGGAAACCATCCGCTTCC 0.562 AKNA 80709 broad.mit.edu 37 9 117099371 117099371 + Missense_Mutation SNP C T T TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr9:117099371C>T uc004biq.3 - 21 4418 c.4283G>A c.(4282-4284)CGC>CAC p.R1428H AKNA_uc004bin.3_Missense_Mutation_p.R675H|AKNA_uc004bio.3_Missense_Mutation_p.R888H|AKNA_uc004bip.3_Missense_Mutation_p.R1347H|AKNA_uc004bir.3_Missense_Mutation_p.R1428H|AKNA_uc004bis.3_Missense_Mutation_p.R1428H|AKNA_uc010mve.2_Missense_Mutation_p.R1309H NM_030767 NP_110394 Q7Z591 AKNA_HUMAN AT-hook transcription factor 1428 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(4)|central_nervous_system(2) 6 GTGAGCCTGGCGCAGGTCGGC 0.682 C9orf98 158067 broad.mit.edu 37 9 135702270 135702270 + Missense_Mutation SNP T G G TCGA-28-1747-01C-01D-1494-08 TCGA-28-1747-10B-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx 7c746081-ac14-4ae2-9564-d67d52f2627c 53b59edd-ae02-4865-8ee3-d8a0da64e9e9 g.chr9:135702270T>G uc004cbu.1 - 8 1284 c.728A>C c.(727-729)GAC>GCC p.D243A C9orf98_uc010mzx.1_RNA|C9orf98_uc004cbv.1_Missense_Mutation_p.D39A NM_152572 NP_689785 Q96MA6 KAD8_HUMAN putative adenylate kinase-like protein C9orf98 243 cytosol adenylate kinase activity|ATP binding|cytidylate kinase activity 0 OV - Ovarian serous cystadenocarcinoma(145;4.89e-06)|Epithelial(140;0.00016) ACATGGCTGGTCAGCACTGAT 0.557