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 TAS1R2 80834 broad.mit.edu 37 1 19181421 19181421 + Silent SNP C T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr1:19181421C>T uc001bba.1 - 3 544 c.543G>A c.(541-543)CTG>CTA p.L181L NM_152232 NP_689418 Q8TE23 TS1R2_HUMAN taste receptor, type 1, member 2 precursor 181 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of sweet taste plasma membrane protein heterodimerization activity|taste receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649) Aspartame(DB00168) GTGTGGTACGCAGCAAAGCCG 0.622 COL16A1 1307 broad.mit.edu 37 1 32126216 32126216 + Silent SNP G T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr1:32126216G>T uc001btk.1 - 62 4214 c.3849C>A c.(3847-3849)CCC>CCA p.P1283P COL16A1_uc001bti.1_5'UTR|COL16A1_uc001btj.1_Silent_p.P1081P NM_001856 NP_001847 Q07092 COGA1_HUMAN alpha 1 type XVI collagen precursor 1283 Triple-helical region 2 (COL2) with 2 imperfections. cell adhesion|female pregnancy|integrin-mediated signaling pathway collagen type XVI integrin binding|structural molecule activity ovary(8) 8 Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116) STAD - Stomach adenocarcinoma(196;0.059) GTCTTCCCTGGGGTCCCATGG 0.547 DAB1 1600 broad.mit.edu 37 1 57491656 57491656 + Missense_Mutation SNP G A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr1:57491656G>A uc001cys.1 - 12 1458 c.784C>T c.(784-786)CCC>TCC p.P262S DAB1_uc001cyt.1_Missense_Mutation_p.P260S|DAB1_uc001cyq.1_Missense_Mutation_p.P260S|DAB1_uc001cyr.1_Missense_Mutation_p.P176S|DAB1_uc009vzw.1_Missense_Mutation_p.P244S|DAB1_uc009vzx.1_Missense_Mutation_p.P262S NM_021080 NP_066566 O75553 DAB1_HUMAN disabled homolog 1 295 P -> S (in Ref. 6; AAH67447). cell differentiation|nervous system development skin(2)|ovary(1) 3 ATACTTACGGGGGGAGAGGTT 0.358 HFM1 164045 broad.mit.edu 37 1 91846537 91846537 + Missense_Mutation SNP C T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr1:91846537C>T uc001doa.3 - 7 905 c.805G>A c.(805-807)GCA>ACA p.A269T HFM1_uc010osu.1_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.A269T NM_001017975 NP_001017975 A2PYH4 HFM1_HUMAN HFM1 protein 269 ATP binding|ATP-dependent helicase activity|nucleic acid binding 0 all_lung(203;0.00961)|Lung NSC(277;0.0351) all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171) CTAAATTTTGCCGCTTACAAT 0.209 CCDC18 343099 broad.mit.edu 37 1 93649564 93649564 + Missense_Mutation SNP C T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr1:93649564C>T uc001dpq.2 + 3 686 c.518C>T c.(517-519)GCC>GTC p.A173V NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 55 ovary(2)|breast(2)|pancreas(1) 5 all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203) all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967) TCTGATTATGCCCCTAATCCT 0.323 PHGDH 26227 broad.mit.edu 37 1 120285535 120285535 + Missense_Mutation SNP C G G TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr1:120285535C>G uc001ehz.2 + 11 1542 c.1315C>G c.(1315-1317)CAA>GAA p.Q439E PHGDH_uc009whm.2_Missense_Mutation_p.Q337E|PHGDH_uc001eia.2_Missense_Mutation_p.Q438E|PHGDH_uc009whn.2_Intron|PHGDH_uc001eib.2_Missense_Mutation_p.Q405E|PHGDH_uc001eic.2_RNA NM_006623 NP_006614 O43175 SERA_HUMAN phosphoglycerate dehydrogenase 439 brain development|L-serine biosynthetic process electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity ovary(1) 1 all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219) all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347) Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593) NADH(DB00157) GGGCTTGGTCCAAGGCACTAC 0.657 THBS3 7059 broad.mit.edu 37 1 155170717 155170719 + In_Frame_Del DEL CAT - - TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr1:155170717_155170719delCAT uc001fix.2 - 13 1540_1542 c.1517_1519delATG c.(1516-1521)GATGCT>GCT p.D506del RAG1AP1_uc010pey.1_Intron|THBS3_uc009wqi.2_In_Frame_Del_p.D497del|THBS3_uc001fiz.2_In_Frame_Del_p.D469del|THBS3_uc001fiy.2_In_Frame_Del_p.D35del|THBS3_uc010pfu.1_In_Frame_Del_p.D386del|THBS3_uc010pfv.1_RNA|THBS3_uc001fja.2_RNA NM_007112 NP_009043 P49746 TSP3_HUMAN thrombospondin 3 precursor 506 TSP type-3 2. cell-matrix adhesion extracellular region|perinuclear region of cytoplasm calcium ion binding|heparin binding|structural molecule activity breast(3)|ovary(2) 5 all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877) Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193) TCCCCATCAGCATCATCATCACA 0.542 YY1AP1 55249 broad.mit.edu 37 1 155629578 155629578 + Missense_Mutation SNP C G G TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr1:155629578C>G uc001fln.2 - 11 2285 c.2261G>C c.(2260-2262)GGA>GCA p.G754A YY1AP1_uc001flg.2_Missense_Mutation_p.G493A|YY1AP1_uc010pgg.1_Missense_Mutation_p.G593A|YY1AP1_uc010pgh.1_Missense_Mutation_p.G697A|YY1AP1_uc010pgi.1_Missense_Mutation_p.G846A|YY1AP1_uc001flh.2_Missense_Mutation_p.G826A|YY1AP1_uc009wqt.2_Missense_Mutation_p.G677A|YY1AP1_uc001flk.2_Missense_Mutation_p.G697A|YY1AP1_uc001fll.2_Missense_Mutation_p.G708A|YY1AP1_uc009wqv.2_Missense_Mutation_p.G425A|YY1AP1_uc001flm.2_Missense_Mutation_p.G697A|YY1AP1_uc001fli.2_Missense_Mutation_p.G708A|YY1AP1_uc009wqu.2_Missense_Mutation_p.G541A|YY1AP1_uc001flj.2_Missense_Mutation_p.G688A|YY1AP1_uc009wqw.2_Missense_Mutation_p.G677A|YY1AP1_uc001flo.2_Missense_Mutation_p.G642A|YY1AP1_uc001flp.2_Missense_Mutation_p.G708A NM_139118 NP_620829 Q9H869 YYAP1_HUMAN YY1-associated protein isoform 2 754 regulation of cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding ovary(2)|skin(1) 3 Hepatocellular(266;0.0997)|all_hematologic(923;0.145) AGCTTGCCTTCCCTCCTCTGT 0.527 CFHR3 10878 broad.mit.edu 37 1 196749091 196749091 + Missense_Mutation SNP T C C TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr1:196749091T>C uc001gtl.2 + 3 505 c.418T>C c.(418-420)TGC>CGC p.C140R CFHR3_uc001gtk.2_Missense_Mutation_p.C140R|CFHR3_uc010poy.1_Missense_Mutation_p.C140R|CFHR1_uc001gtm.2_Intron NM_021023 NP_066303 Q02985 FHR3_HUMAN complement factor H-related 3 precursor 140 Sushi 2. extracellular space 0 TACTCCCAGATGCATCCGTGT 0.493 CFHR3 10878 broad.mit.edu 37 1 196749101 196749101 + Missense_Mutation SNP T A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr1:196749101T>A uc001gtl.2 + 3 515 c.428T>A c.(427-429)GTC>GAC p.V143D CFHR3_uc001gtk.2_Missense_Mutation_p.V143D|CFHR3_uc010poy.1_Missense_Mutation_p.V143D|CFHR1_uc001gtm.2_Intron NM_021023 NP_066303 Q02985 FHR3_HUMAN complement factor H-related 3 precursor 143 V -> D (in Ref. 1; CAA48639). extracellular space 0 TGCATCCGTGTCAGTAAGTAC 0.478 OR2G2 81470 broad.mit.edu 37 1 247752159 247752159 + Silent SNP C T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr1:247752159C>T uc010pyy.1 + 1 498 c.498C>T c.(496-498)ACC>ACT p.T166T NM_001001915 NP_001001915 Q8NGZ5 OR2G2_HUMAN olfactory receptor, family 2, subfamily G, 166 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CCACCCTCACCCTGCAGCTGC 0.542 PDCD11 22984 broad.mit.edu 37 10 105176336 105176336 + Missense_Mutation SNP A G G TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr10:105176336A>G uc001kwy.1 + 13 1694 c.1607A>G c.(1606-1608)TAT>TGT p.Y536C NM_014976 NP_055791 Q14690 RRP5_HUMAN programmed cell death 11 536 mRNA processing|rRNA processing nucleolus RNA binding|transcription factor binding ovary(2)|breast(2)|skin(2)|central_nervous_system(1) 7 Colorectal(252;0.0747)|Breast(234;0.128) Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208) ATTACCTGCTATGCCGATGCC 0.493 OREG0020494 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KIAA1598 57698 broad.mit.edu 37 10 118671332 118671332 + Missense_Mutation SNP T G G TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr10:118671332T>G uc009xyw.2 - 14 1826 c.1328A>C c.(1327-1329)GAA>GCA p.E443A KIAA1598_uc001lcz.3_Missense_Mutation_p.E443A|KIAA1598_uc010qso.1_Missense_Mutation_p.E383A|KIAA1598_uc010qsp.1_Missense_Mutation_p.E443A|KIAA1598_uc010qsq.1_Missense_Mutation_p.E383A|KIAA1598_uc001lcy.3_Missense_Mutation_p.E413A NM_001127211 NP_001120683 A0MZ66 SHOT1_HUMAN shootin1 isoform a 443 axon guidance axon 0 all cancers(201;0.00494) CACTGCACTTTCGCAGCCTTT 0.299 CPXM2 119587 broad.mit.edu 37 10 125506512 125506512 + Missense_Mutation SNP C T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr10:125506512C>T uc001lhk.1 - 14 2364 c.2039G>A c.(2038-2040)CGC>CAC p.R680H CPXM2_uc001lhj.2_Intron NM_198148 NP_937791 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 680 cell adhesion|proteolysis extracellular space metallocarboxypeptidase activity|zinc ion binding ovary(2) 2 all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233) COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237) GTTCAGGAGGCGCCAGTAATC 0.547 HPS5 11234 broad.mit.edu 37 11 18309168 18309168 + Silent SNP C T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr11:18309168C>T uc001mod.1 - 18 2909 c.2631G>A c.(2629-2631)TCG>TCA p.S877S HPS5_uc001moe.1_Silent_p.S763S|HPS5_uc001mof.1_Silent_p.S763S NM_181507 NP_852608 Q9UPZ3 HPS5_HUMAN Hermansky-Pudlak syndrome 5 isoform a 877 cytosol ovary(1)|pancreas(1)|skin(1) 3 GTATGATATCCGATGGCAAAA 0.408 Hermansky-Pudlak_syndrome SLC5A12 159963 broad.mit.edu 37 11 26708091 26708091 + Frame_Shift_Del DEL C - - TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr11:26708091delC uc001mra.2 - 10 1467 c.1154delG c.(1153-1155)TGTfs p.C385fs SLC5A12_uc001mrb.2_RNA NM_178498 NP_848593 Q1EHB4 SC5AC_HUMAN solute carrier family 5 (sodium/glucose 385 Cytoplasmic (Potential). sodium ion transport apical plasma membrane|integral to membrane symporter activity ovary(1)|skin(1) 2 AAATAAGAGACCTGAAAGAAA 0.453 EXT2 2132 broad.mit.edu 37 11 44129545 44129545 + Missense_Mutation SNP C T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr11:44129545C>T uc001mxz.2 + 2 617 c.283C>T c.(283-285)CGC>TGC p.R95C EXT2_uc010rfo.1_Missense_Mutation_p.R123C|EXT2_uc001mxy.2_Missense_Mutation_p.R108C|EXT2_uc009ykt.2_Missense_Mutation_p.R95C|EXT2_uc001mya.2_Missense_Mutation_p.R128C NM_207122 NP_997005 Q93063 EXT2_HUMAN exostosin 2 isoform 2 95 Lumenal (Potential). glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity lung(2)|breast(2)|skin(1) 5 TGATGTCTATCGCTGTGGCTT 0.512 Mis|N|F|S exostoses|osteosarcoma Hereditary_Multiple_Exostoses OR4A5 81318 broad.mit.edu 37 11 51412077 51412077 + Missense_Mutation SNP C T T rs5002407 TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr11:51412077C>T uc001nhi.1 - 1 319 c.319G>A c.(319-321)GGG>AGG p.G107R NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 107 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|central_nervous_system(1)|skin(1) 3 all_lung(304;0.236) ACCTCAGCCCCACCAAAGAAA 0.443 MMP13 4322 broad.mit.edu 37 11 102816396 102816396 + Missense_Mutation SNP C A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr11:102816396C>A uc001phl.2 - 9 1322 c.1294G>T c.(1294-1296)GAT>TAT p.D432Y NM_002427 NP_002418 P45452 MMP13_HUMAN matrix metalloproteinase 13 preproprotein 432 Hemopexin-like 4. Calcium 3; via carbonyl oxygen (By similarity). collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) TAGACAGCATCTACTTTATCA 0.328 MMP13 4322 broad.mit.edu 37 11 102826101 102826101 + Missense_Mutation SNP C T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr11:102826101C>T uc001phl.2 - 2 270 c.242G>A c.(241-243)GGC>GAC p.G81D NM_002427 NP_002418 P45452 MMP13_HUMAN matrix metalloproteinase 13 preproprotein 81 collagen catabolic process|proteolysis extracellular space metalloendopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.0144) GTCAAGTTTGCCAGTCACCTC 0.473 OR10G8 219869 broad.mit.edu 37 11 123900834 123900834 + Missense_Mutation SNP G A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr11:123900834G>A uc001pzp.1 + 1 505 c.505G>A c.(505-507)GGA>AGA p.G169R NM_001004464 NP_001004464 Q8NGN5 O10G8_HUMAN olfactory receptor, family 10, subfamily G, 169 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521) GCCCTACTGTGGACCCAACTG 0.537 CACNA1C 775 broad.mit.edu 37 12 2716164 2716164 + Missense_Mutation SNP C T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr12:2716164C>T uc009zdu.1 + 27 3597 c.3284C>T c.(3283-3285)ACG>ATG p.T1095M CACNA1C_uc009zdv.1_Missense_Mutation_p.T1072M|CACNA1C_uc001qkb.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkc.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qke.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkf.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qjz.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkd.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkg.2_Missense_Mutation_p.T1075M|CACNA1C_uc009zdw.1_Missense_Mutation_p.T1075M|CACNA1C_uc001qkh.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkl.2_Missense_Mutation_p.T1095M|CACNA1C_uc001qkn.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qko.2_Missense_Mutation_p.T1095M|CACNA1C_uc001qkp.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkr.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qku.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkq.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qks.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkt.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qka.1_Missense_Mutation_p.T610M|CACNA1C_uc001qki.1_Missense_Mutation_p.T811M|CACNA1C_uc001qkj.1_Missense_Mutation_p.T811M|CACNA1C_uc001qkk.1_Missense_Mutation_p.T811M|CACNA1C_uc001qkm.1_Missense_Mutation_p.T811M NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1095 Extracellular (Potential).|III. axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) AACTACATCACGTACAAAGAC 0.557 C1S 716 broad.mit.edu 37 12 7174399 7174399 + Missense_Mutation SNP T A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr12:7174399T>A uc001qsj.2 + 12 1763 c.1044T>A c.(1042-1044)AGT>AGA p.S348R C1S_uc001qsk.2_Missense_Mutation_p.S348R|C1S_uc001qsl.2_Missense_Mutation_p.S348R|C1S_uc009zfr.2_Missense_Mutation_p.S181R|C1S_uc009zfs.2_RNA NM_201442 NP_958850 P09871 C1S_HUMAN complement component 1, s subcomponent 348 Sushi 1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity skin(1) 1 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) GAAAGTGGAGTAATTCCAAAC 0.368 SYT10 341359 broad.mit.edu 37 12 33538180 33538180 + Missense_Mutation SNP G A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr12:33538180G>A uc001rll.1 - 4 1421 c.1124C>T c.(1123-1125)CCG>CTG p.P375L SYT10_uc009zju.1_Missense_Mutation_p.P185L NM_198992 NP_945343 Q6XYQ8 SYT10_HUMAN synaptotagmin X 375 C2 2.|Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane metal ion binding|transporter activity ovary(1)|skin(1) 2 Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334) CCCAGCCGTCGGTAGGTAACA 0.438 C12orf68 387856 broad.mit.edu 37 12 48578422 48578422 + Missense_Mutation SNP C T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr12:48578422C>T uc001rrj.2 + 1 1057 c.517C>T c.(517-519)CCA>TCA p.P173S NM_001013635 NP_001013657 Q52MB2 CL068_HUMAN hypothetical protein LOC387856 173 cytoplasm central_nervous_system(1) 1 GGGGGACGGGCCACTTGTGGA 0.607 SCN8A 6334 broad.mit.edu 37 12 52180608 52180608 + Missense_Mutation SNP G A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr12:52180608G>A uc001ryw.2 + 22 4403 c.4225G>A c.(4225-4227)GTA>ATA p.V1409I SCN8A_uc010snl.1_Missense_Mutation_p.V1233I|SCN8A_uc001rza.1_RNA NM_014191 NP_055006 Q9UQD0 SCN8A_HUMAN sodium channel, voltage gated, type VIII, alpha 1409 III. axon guidance|myelination|peripheral nervous system development cytoplasmic membrane-bounded vesicle|node of Ranvier ATP binding|voltage-gated sodium channel activity ovary(7) 7 BRCA - Breast invasive adenocarcinoma(357;0.181) Lamotrigine(DB00555) CCTTCTTCAAGTAGTAAGTAG 0.403 KIAA0748 9840 broad.mit.edu 37 12 55356553 55356553 + Missense_Mutation SNP C T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr12:55356553C>T uc001sgn.3 - 9 1239 c.1129G>A c.(1129-1131)GCA>ACA p.A377T KIAA0748_uc001sgl.3_Missense_Mutation_p.A239T|KIAA0748_uc001sgm.3_Missense_Mutation_p.A124T|KIAA0748_uc010spb.1_Missense_Mutation_p.A124T|KIAA0748_uc010spc.1_Missense_Mutation_p.A239T|KIAA0748_uc010spd.1_Missense_Mutation_p.A377T|KIAA0748_uc001sgo.3_RNA NM_001098815 NP_001092285 A2RU30 K0748_HUMAN hypothetical protein LOC9840 377 p.T377N(1) ovary(1)|central_nervous_system(1) 2 TGGGATGGTGCTAGCACTGTG 0.527 GPR109A 338442 broad.mit.edu 37 12 123187080 123187080 + Missense_Mutation SNP G A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr12:123187080G>A uc001ucx.1 - 1 825 c.751C>T c.(751-753)CGG>TGG p.R251W GPR81_uc001ucw.1_Intron NM_177551 NP_808219 Q8TDS4 HCAR2_HUMAN G protein-coupled receptor 109A 251 Extracellular (Potential). negative regulation of lipid catabolic process|neutrophil apoptosis|positive regulation of adiponectin secretion|positive regulation of neutrophil apoptosis integral to membrane|plasma membrane nicotinic acid receptor activity|purinergic nucleotide receptor activity, G-protein coupled 0 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;2.12e-05)|Epithelial(86;3.19e-05)|BRCA - Breast invasive adenocarcinoma(302;0.196) Mepenzolate(DB04843)|Niacin(DB00627) ATGCGGATCCGCACAACCACG 0.542 KLHL1 57626 broad.mit.edu 37 13 70535514 70535514 + Missense_Mutation SNP G A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr13:70535514G>A uc001vip.2 - 3 1537 c.743C>T c.(742-744)GCC>GTC p.A248V KLHL1_uc010thm.1_Missense_Mutation_p.A187V NM_020866 NP_065917 Q9NR64 KLHL1_HUMAN kelch-like 1 protein 248 BTB. actin cytoskeleton organization cytoplasm|cytoskeleton actin binding 0 Breast(118;0.000162) COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211) CTCTTGCTTGGCTTCACAAAC 0.413 SPTB 6710 broad.mit.edu 37 14 65245925 65245925 + Missense_Mutation SNP C T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr14:65245925C>T uc001xht.2 - 21 4567 c.4513G>A c.(4513-4515)GAC>AAC p.D1505N SPTB_uc001xhr.2_Missense_Mutation_p.D1505N|SPTB_uc001xhs.2_Missense_Mutation_p.D1505N|SPTB_uc001xhu.2_Missense_Mutation_p.D1505N|SPTB_uc010aqi.2_Missense_Mutation_p.D166N NM_000347 NP_000338 P11277 SPTB1_HUMAN spectrin beta isoform b 1505 Spectrin 12. actin filament capping|axon guidance cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton actin filament binding|structural constituent of cytoskeleton ovary(7)|skin(2)|lung(1)|central_nervous_system(1) 11 all_lung(585;4.15e-09) all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628) GTGCCATAGTCGGCTGACTGG 0.532 TYRO3 7301 broad.mit.edu 37 15 41859568 41859568 + Missense_Mutation SNP C A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr15:41859568C>A uc001zof.1 + 7 1018 c.794C>A c.(793-795)GCC>GAC p.A265D NM_006293 NP_006284 Q06418 TYRO3_HUMAN TYRO3 protein tyrosine kinase precursor 265 Fibronectin type-III 1.|Extracellular (Potential). integral to plasma membrane ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.A265G(1) ovary(3)|lung(2)|central_nervous_system(1) 6 all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262) OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117) GTGACACAGGCCCCAGGAGGC 0.557 SPTBN5 51332 broad.mit.edu 37 15 42168354 42168354 + Silent SNP G A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr15:42168354G>A uc001zos.2 - 21 4308 c.3975C>T c.(3973-3975)AGC>AGT p.S1325S NM_016642 NP_057726 Q9NRC6 SPTN5_HUMAN spectrin, beta, non-erythrocytic 5 1360 Spectrin 10. actin cytoskeleton organization|actin filament capping|axon guidance cytosol|membrane|spectrin ovary(1)|central_nervous_system(1) 2 all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173) all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908) CGAGTAGCTCGCTCTCAGCTG 0.622 HERC1 8925 broad.mit.edu 37 15 63948489 63948489 + Missense_Mutation SNP C T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr15:63948489C>T uc002amp.2 - 49 9816 c.9668G>A c.(9667-9669)CGA>CAA p.R3223Q NM_003922 NP_003913 Q15751 HERC1_HUMAN hect domain and RCC1-like domain 1 3223 protein modification process|transport cytosol|Golgi apparatus|membrane acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity ovary(6)|breast(6)|lung(5)|central_nervous_system(2) 19 GCACATTAATCGAACTAGCGT 0.532 TMC3 342125 broad.mit.edu 37 15 81628948 81628948 + Splice_Site SNP A G G TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr15:81628948A>G uc002bgo.1 - 20 2203 c.2203_splice c.e20+1 p.A735_splice TMC3_uc010blr.1_Splice_Site NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 integral to membrane ovary(1)|liver(1) 2 GGAAATACTTACCTTCTACCA 0.214 IL34 146433 broad.mit.edu 37 16 70693910 70693910 + Missense_Mutation SNP C A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr16:70693910C>A uc002ezh.1 + 6 932 c.549C>A c.(547-549)AGC>AGA p.S183R IL34_uc002ezi.1_Missense_Mutation_p.S182R NM_152456 NP_689669 Q6ZMJ4 IL34_HUMAN interleukin 34 precursor 183 positive regulation of cell proliferation|positive regulation of protein phosphorylation extracellular space cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding central_nervous_system(1)|skin(1) 2 GTAAACAAAGCTCCGTCCTAA 0.562 TTC25 83538 broad.mit.edu 37 17 40092757 40092757 + Silent SNP G A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr17:40092757G>A uc002hyj.3 + 4 518 c.429G>A c.(427-429)GGG>GGA p.G143G TTC25_uc010cxt.2_RNA|TTC25_uc010cxs.1_Silent_p.G143G NM_031421 NP_113609 Q96NG3 TTC25_HUMAN tetratricopeptide repeat domain 25 143 cytoplasm protein binding ovary(1) 1 all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236) AGAACAAAGGGGACCTCTCCT 0.522 BZRAP1 9256 broad.mit.edu 37 17 56389930 56389930 + Missense_Mutation SNP C G G TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr17:56389930C>G uc002ivx.3 - 17 3123 c.2252G>C c.(2251-2253)GGC>GCC p.G751A BZRAP1_uc010dcs.2_Missense_Mutation_p.G691A|BZRAP1_uc010wnt.1_Missense_Mutation_p.G751A NM_004758 NP_004749 O95153 RIMB1_HUMAN peripheral benzodiazepine receptor-associated 751 mitochondrion benzodiazepine receptor binding upper_aerodigestive_tract(2)|skin(1) 3 Medulloblastoma(34;0.127)|all_neural(34;0.237) GCTACTGCTGCCACCCCCACC 0.632 RYR1 6261 broad.mit.edu 37 19 38990280 38990280 + Missense_Mutation SNP A C C TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr19:38990280A>C uc002oit.2 + 44 7163 c.7033A>C c.(7033-7035)AGC>CGC p.S2345R RYR1_uc002oiu.2_Missense_Mutation_p.S2345R|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2345 Cytoplasmic.|6 X approximate repeats. muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) GCCAGGCGAGAGCGTGGAGGA 0.667 CADM4 199731 broad.mit.edu 37 19 44130439 44130439 + Silent SNP T C C TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr19:44130439T>C uc002oxc.1 - 5 550 c.501A>G c.(499-501)GGA>GGG p.G167G NM_145296 NP_660339 Q8NFZ8 CADM4_HUMAN cell adhesion molecule 4 precursor 167 Extracellular (Potential).|Ig-like C2-type 1. cell adhesion integral to membrane 0 Prostate(69;0.0199) TGCTGCTCACTCCTGCCACAC 0.592 EML2 24139 broad.mit.edu 37 19 46124852 46124852 + Silent SNP G A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr19:46124852G>A uc002pcn.2 - 10 920 c.885C>T c.(883-885)GGC>GGT p.G295G EML2_uc002pco.2_RNA|EML2_uc002pcp.2_Silent_p.G179G|EML2_uc010xxl.1_Silent_p.G442G|EML2_uc010xxm.1_Silent_p.G496G|EML2_uc010xxn.1_RNA|EML2_uc010xxo.1_Silent_p.G295G|EML2_uc010ekj.2_Missense_Mutation_p.A262V NM_012155 NP_036287 O95834 EMAL2_HUMAN echinoderm microtubule associated protein like 295 WD 5. sensory perception of sound|visual perception cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex catalytic activity|protein binding large_intestine(1)|ovary(1) 2 Ovarian(192;0.179)|all_neural(266;0.224) OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197) CAAACACGCCGCCGTCGTGGG 0.687 ZNF324B 388569 broad.mit.edu 37 19 58967238 58967238 + Silent SNP C T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr19:58967238C>T uc002qsv.1 + 4 1034 c.927C>T c.(925-927)GGC>GGT p.G309G ZNF324B_uc002qsu.1_Silent_p.G299G|ZNF324B_uc010euq.1_Silent_p.G309G NM_207395 NP_997278 Q6AW86 Z324B_HUMAN zinc finger protein 324B 309 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179) TCCACAGCGGCGAGACGCCCT 0.687 NRXN1 9378 broad.mit.edu 37 2 50850508 50850508 + Missense_Mutation SNP C T T rs34326676 TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr2:50850508C>T uc010fbq.2 - 6 2654 c.1177G>A c.(1177-1179)GGA>AGA p.G393R NRXN1_uc002rxb.3_Missense_Mutation_p.G40R|NRXN1_uc002rxe.3_Missense_Mutation_p.G360R|NRXN1_uc002rxc.1_RNA NM_001135659 NP_001129131 P58400 NRX1B_HUMAN neurexin 1 isoform alpha2 precursor Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis|neuron cell-cell adhesion|neuronal signal transduction cell surface|endocytic vesicle|integral to membrane|presynaptic membrane cell adhesion molecule binding|receptor binding ovary(2) 2 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192) Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116) TTAAACTTTCCATTCACAGGC 0.458 PROM2 150696 broad.mit.edu 37 2 95947910 95947910 + Missense_Mutation SNP C T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr2:95947910C>T uc002suh.1 + 14 1797 c.1664C>T c.(1663-1665)GCG>GTG p.A555V PROM2_uc002sui.2_Missense_Mutation_p.A555V|PROM2_uc002suj.2_Missense_Mutation_p.A209V|PROM2_uc002suk.2_Missense_Mutation_p.A555V|PROM2_uc002sul.2_Missense_Mutation_p.A81V|PROM2_uc002sum.2_RNA NM_144707 NP_653308 Q8N271 PROM2_HUMAN prominin 2 precursor 555 Extracellular (Potential). apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane ovary(1) 1 GAAGGGGCAGCGCTCTGGACA 0.627 MCM6 4175 broad.mit.edu 37 2 136630337 136630337 + Missense_Mutation SNP C G G TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr2:136630337C>G uc002tuw.2 - 2 260 c.184G>C c.(184-186)GTT>CTT p.V62L NM_005915 NP_005906 Q14566 MCM6_HUMAN minichromosome maintenance complex component 6 62 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|identical protein binding 0 BRCA - Breast invasive adenocarcinoma(221;0.166) Atorvastatin(DB01076) AAACTCACAACCAATGTGTTT 0.403 TTN 7273 broad.mit.edu 37 2 179458739 179458739 + Missense_Mutation SNP C T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr2:179458739C>T uc010zfg.1 - 246 50901 c.50677G>A c.(50677-50679)GTG>ATG p.V16893M uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V10588M|TTN_uc010zfi.1_Missense_Mutation_p.V10521M|TTN_uc010zfj.1_Missense_Mutation_p.V10396M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 17820 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTGTTCTCCACAACCACACAG 0.403 ALS2CR12 130540 broad.mit.edu 37 2 202216040 202216040 + Missense_Mutation SNP G A A rs143899839 TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr2:202216040G>A uc010ftg.2 - 2 532 c.88C>T c.(88-90)CGC>TGC p.R30C ALS2CR12_uc002uya.3_Missense_Mutation_p.R30C|ALS2CR12_uc010fth.2_RNA NM_139163 NP_631902 Q96Q35 AL2SB_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 30 regulation of GTPase activity protein binding ovary(1)|breast(1)|central_nervous_system(1) 3 GAGTTCTTGCGTGGTAGTTGA 0.517 THAP4 51078 broad.mit.edu 37 2 242573479 242573479 + Silent SNP G A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr2:242573479G>A uc002wbt.2 - 2 316 c.93C>T c.(91-93)GAC>GAT p.D31D NM_015963 NP_057047 Q8WY91 THAP4_HUMAN THAP domain containing 4 isoform 1 31 THAP-type. DNA binding|metal ion binding 0 all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2) Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844) GACGTTTTGAGTCCTTTAGGG 0.353 ADAMTS1 9510 broad.mit.edu 37 21 28212824 28212824 + Missense_Mutation SNP C A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr21:28212824C>A uc002ymf.2 - 5 1891 c.1436G>T c.(1435-1437)GGC>GTC p.G479V NM_006988 NP_008919 Q9UHI8 ATS1_HUMAN ADAM metallopeptidase with thrombospondin type 1 479 Disintegrin. integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis heparin binding|zinc ion binding lung(3)|large_intestine(2)|central_nervous_system(1) 6 Breast(209;0.000962) Lung(58;0.215) GTACGAGGTGCCAGGGAGATC 0.527 PRAME 23532 broad.mit.edu 37 22 22893261 22893261 + Missense_Mutation SNP T C C TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr22:22893261T>C uc002zwf.2 - 3 428 c.272A>G c.(271-273)CAT>CGT p.H91R LOC96610_uc011aim.1_Intron|PRAME_uc011air.1_Missense_Mutation_p.H75R|PRAME_uc010gtr.2_Missense_Mutation_p.H91R|PRAME_uc002zwg.2_Missense_Mutation_p.H91R|PRAME_uc002zwh.2_Missense_Mutation_p.H91R|PRAME_uc002zwi.2_Missense_Mutation_p.H91R|PRAME_uc002zwj.2_Missense_Mutation_p.H91R|PRAME_uc002zwk.2_Missense_Mutation_p.H91R NM_206956 NP_996839 P78395 PRAME_HUMAN preferentially expressed antigen in melanoma 91 apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent nucleus|plasma membrane retinoic acid receptor binding central_nervous_system(2) 2 all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17) all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05) READ - Rectum adenocarcinoma(21;0.0649) CAGGTGAAGATGTTGTCCCTT 0.582 FANCD2 2177 broad.mit.edu 37 3 10108908 10108908 + Missense_Mutation SNP T C C TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr3:10108908T>C uc003buw.2 + 26 2479 c.2401T>C c.(2401-2403)TGC>CGC p.C801R FANCD2_uc003bux.1_Missense_Mutation_p.C801R|FANCD2_uc003buy.1_Missense_Mutation_p.C801R|FANCD2_uc010hcw.1_RNA NM_033084 NP_149075 Q9BXW9 FACD2_HUMAN Fanconi anemia complementation group D2 isoform 801 DNA repair|response to gamma radiation nucleoplasm protein binding|protein binding central_nervous_system(2)|ovary(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(96;0.148) AAATGCCTTCTGCCAGGAAAC 0.378 D|Mis|N|F AML|leukemia Involved_in_tolerance_or_repair_of_DNA_crosslinks Fanconi_Anemia IRAK2 3656 broad.mit.edu 37 3 10254939 10254939 + Missense_Mutation SNP G A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr3:10254939G>A uc003bve.1 + 5 653 c.577G>A c.(577-579)GGA>AGA p.G193R NM_001570 NP_001561 O43187 IRAK2_HUMAN interleukin-1 receptor-associated kinase 2 193 activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cell surface|cytosol|endosome membrane|plasma membrane ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity lung(5)|breast(3) 8 GAGCTTGGCTGGAGACAGCCT 0.493 FGD5 152273 broad.mit.edu 37 3 14862951 14862951 + Silent SNP C A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr3:14862951C>A uc003bzc.2 + 1 2483 c.2373C>A c.(2371-2373)CCC>CCA p.P791P FGD5_uc011avk.1_Silent_p.P791P NM_152536 NP_689749 Q6ZNL6 FGD5_HUMAN FYVE, RhoGEF and PH domain containing 5 791 actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape cytoskeleton|Golgi apparatus|lamellipodium|ruffle metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding p.A791A(1) ovary(3)|kidney(1)|pancreas(1) 5 AGATTCCACCCCGGAGACCTG 0.537 XIRP1 165904 broad.mit.edu 37 3 39229284 39229284 + Silent SNP C T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr3:39229284C>T uc003cjk.1 - 2 1874 c.1653G>A c.(1651-1653)CGG>CGA p.R551R XIRP1_uc003cji.2_Silent_p.R551R|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 551 Interaction with CTNNB1 (By similarity).|Xin 12. actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CAAAAAGCCACCGAGCTGTGC 0.632 IMPDH2 3615 broad.mit.edu 37 3 49062153 49062153 + Silent SNP G A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr3:49062153G>A uc003cvt.2 - 12 1470 c.1378C>T c.(1378-1380)CTG>TTG p.L460L NM_000884 NP_000875 P12268 IMDH2_HUMAN inosine monophosphate dehydrogenase 2 460 GMP biosynthetic process|purine base metabolic process cytosol|nucleus IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157) CCAGCAATCAGGTAAGGGACA 0.552 PBRM1 55193 broad.mit.edu 37 3 52595840 52595840 + Missense_Mutation SNP G A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr3:52595840G>A uc003des.2 - 25 4243 c.4231C>T c.(4231-4233)CGC>TGC p.R1411C PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Missense_Mutation_p.R1411C|PBRM1_uc003der.2_Missense_Mutation_p.R1379C|PBRM1_uc003det.2_Missense_Mutation_p.R1426C|PBRM1_uc003deu.2_Missense_Mutation_p.R1426C|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Missense_Mutation_p.R1411C|PBRM1_uc010hmk.1_Missense_Mutation_p.R1386C|PBRM1_uc003dey.2_Missense_Mutation_p.R1359C|PBRM1_uc003dez.1_Missense_Mutation_p.R1410C NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 1411 HMG box. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) CCCACCAGGCGGCTGAGCTCC 0.498 Mis|N|F|S|D|O clear cell renal carcinoma|breast ATXN7 6314 broad.mit.edu 37 3 63981678 63981678 + Frame_Shift_Del DEL C - - TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr3:63981678delC uc003dlw.3 + 12 2733 c.2180delC c.(2179-2181)TCTfs p.S727fs ATXN7_uc003dlv.2_Frame_Shift_Del_p.S727fs|ATXN7_uc010hnv.2_Frame_Shift_Del_p.S727fs|ATXN7_uc011bfn.1_Frame_Shift_Del_p.S582fs NM_000333 NP_000324 O15265 ATX7_HUMAN ataxin 7 isoform a 727 Poly-Ser.|Ser-rich. cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception cytoplasm|nuclear matrix|nucleolus protein binding|zinc ion binding 0 Prostate(884;0.0181) BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305) tcctcctcttcttcTCATTCC 0.413 FNDC3B 64778 broad.mit.edu 37 3 172065012 172065012 + Missense_Mutation SNP G C C TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr3:172065012G>C uc003fhy.2 + 21 2547 c.2375G>C c.(2374-2376)AGT>ACT p.S792T FNDC3B_uc003fhz.3_Missense_Mutation_p.S792T NM_022763 NP_073600 Q53EP0 FND3B_HUMAN fibronectin type III domain containing 3B 792 Fibronectin type-III 6. endoplasmic reticulum|integral to membrane ovary(2)|breast(1) 3 all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) GBM - Glioblastoma multiforme(1;0.0494) AGTCCTGATAGTTCTGGTGCT 0.398 PIK3CA 5290 broad.mit.edu 37 3 178952085 178952085 + Missense_Mutation SNP A G G rs121913279 TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr3:178952085A>G uc003fjk.2 + 21 3297 c.3140A>G c.(3139-3141)CAT>CGT p.H1047R NM_006218 NP_006209 P42336 PK3CA_HUMAN phosphoinositide-3-kinase, catalytic, alpha 1047 PI3K/PI4K. H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer). epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity p.H1047R(1269)|p.H1047L(152)|p.H1047Y(31)|p.H1047Q(3)|p.H1047T(1) breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1) 3553 all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155) OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282) AATGATGCACATCATGGTGGC 0.378 H1047R(BT20_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(MCAS_OVARY)|H1047R(HCC1954_BREAST)|H1047R(RKO_LARGE_INTESTINE)|H1047L(EFM19_BREAST)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(CAL29_URINARY_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(T47D_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(SKOV3_OVARY)|H1047R(MDAMB453_BREAST) 57 Mis colorectal|gastric|gliobastoma|breast HNSCC(19;0.045)|TSP Lung(28;0.18) IL1RAP 3556 broad.mit.edu 37 3 190345166 190345166 + Missense_Mutation SNP G A A rs138101360 TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr3:190345166G>A uc003fsm.1 + 8 1036 c.830G>A c.(829-831)CGC>CAC p.R277H IL1RAP_uc003fsk.2_Missense_Mutation_p.R277H|IL1RAP_uc003fsl.2_Missense_Mutation_p.R277H|IL1RAP_uc010hzf.2_Missense_Mutation_p.R136H|IL1RAP_uc010hzg.1_Missense_Mutation_p.R277H|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.R277H|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Missense_Mutation_p.R277H NM_002182 NP_002173 Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein isoform 277 Extracellular (Potential).|Ig-like C2-type 3. inflammatory response|innate immune response|protein complex assembly extracellular region|integral to plasma membrane ovary(1) 1 all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21) Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06) GBM - Glioblastoma multiforme(93;0.00851) ATGGATTCTCGCAATGAGGTT 0.348 MUC4 4585 broad.mit.edu 37 3 195505813 195505813 + Missense_Mutation SNP T C C TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr3:195505813T>C uc011bto.1 - 3 12714 c.12254A>G c.(12253-12255)GAC>GGC p.D4085G MUC4_uc003fva.2_5'Flank|MUC4_uc003fvb.2_5'Flank|MUC4_uc003fvc.2_5'Flank|MUC4_uc003fvd.2_5'Flank|MUC4_uc003fve.2_5'Flank|MUC4_uc010hzr.2_5'Flank|MUC4_uc011btf.1_Intron|MUC4_uc011btg.1_Intron|MUC4_uc011bth.1_Intron|MUC4_uc011bti.1_Intron|MUC4_uc011btj.1_Intron|MUC4_uc011btk.1_Intron|MUC4_uc011btl.1_Intron|MUC4_uc011btm.1_Intron|MUC4_uc011btn.1_Intron|MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity 0 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGAGGAAGTGTCGGTGACAGG 0.592 UGT2B11 10720 broad.mit.edu 37 4 70079956 70079956 + Missense_Mutation SNP G A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr4:70079956G>A uc003heh.2 - 1 494 c.485C>T c.(484-486)GCG>GTG p.A162V uc003hei.1_Intron NM_001073 NP_001064 O75310 UDB11_HUMAN UDP glucuronosyltransferase 2 family, 162 estrogen metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome glucuronosyltransferase activity p.A162A(1) ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 3 GTTAAGTAGCGCAGCCAGCAG 0.423 ADAM29 11086 broad.mit.edu 37 4 175897289 175897289 + Missense_Mutation SNP G A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr4:175897289G>A uc003iuc.2 + 5 1283 c.613G>A c.(613-615)GTC>ATC p.V205I ADAM29_uc003iud.2_Missense_Mutation_p.V205I|ADAM29_uc010irr.2_Missense_Mutation_p.V205I|ADAM29_uc011cki.1_Missense_Mutation_p.V205I NM_014269 NP_055084 Q9UKF5 ADA29_HUMAN ADAM metallopeptidase domain 29 preproprotein 205 Peptidase M12B.|Extracellular (Potential). V -> I (in a colorectal cancer sample; somatic mutation). proteolysis|spermatogenesis integral to plasma membrane metalloendopeptidase activity|zinc ion binding p.V205I(1) 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) AATTGTAGTCGTCATTGATAA 0.348 TMEM174 134288 broad.mit.edu 37 5 72469396 72469396 + Missense_Mutation SNP C T T rs34059261 byFrequency TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr5:72469396C>T uc010izc.2 + 1 374 c.326C>T c.(325-327)CCG>CTG p.P109L NM_153217 NP_694949 Q8WUU8 TM174_HUMAN transmembrane protein 174 109 integral to membrane ovary(1) 1 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.46e-54) GAAAGGGTCCCGGACTCGGAA 0.527 EGR1 1958 broad.mit.edu 37 5 137803019 137803019 + Missense_Mutation SNP C A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr5:137803019C>A uc003ldb.1 + 2 1151 c.881C>A c.(880-882)GCC>GAC p.A294D EGR1_uc011cyu.1_Intron NM_001964 NP_001955 P18146 EGR1_HUMAN early growth response 1 294 cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway cytoplasm|nucleus histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) ACTATTAAGGCCTTTGCCACT 0.627 DSP 1832 broad.mit.edu 37 6 7583937 7583937 + Missense_Mutation SNP G A A rs144539278 TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr6:7583937G>A uc003mxp.1 + 24 6721 c.6442G>A c.(6442-6444)GCC>ACC p.A2148T DSP_uc003mxq.1_Missense_Mutation_p.A1549T NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 2148 Plectin 4.|Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) AAAAGATGTCGCCTTGGCCCG 0.478 HIST1H2AM 8336 broad.mit.edu 37 6 27860752 27860752 + Missense_Mutation SNP A T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr6:27860752A>T uc003nkb.1 - 1 212 c.176T>A c.(175-177)CTA>CAA p.L59Q HIST1H3J_uc003nka.2_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank NM_003514 NP_003505 P0C0S8 H2A1_HUMAN histone cluster 1, H2am 59 nucleosome assembly nucleosome|nucleus DNA binding|enzyme binding ovary(2) 2 CTCGGCAGTTAGGTACTCCAG 0.662 NEU1 4758 broad.mit.edu 37 6 31830506 31830506 + Silent SNP C T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr6:31830506C>T uc003nxq.3 - 1 204 c.48G>A c.(46-48)GGG>GGA p.G16G NEU1_uc010jtg.2_RNA|NEU1_uc003nxr.3_RNA|NEU1_uc010jth.2_5'UTR|NEU1_uc003nxs.3_Silent_p.G16G NM_000434 NP_000425 Q99519 NEUR1_HUMAN neuraminidase precursor 16 cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane exo-alpha-sialidase activity|protein binding ovary(1) 1 Oseltamivir(DB00198)|Zanamivir(DB00558) GAATCCGCGGCCCCCAGCGTC 0.662 PKHD1 5314 broad.mit.edu 37 6 51751972 51751972 + Silent SNP C T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr6:51751972C>T uc003pah.1 - 44 7344 c.7068G>A c.(7066-7068)CCG>CCA p.P2356P PKHD1_uc010jzn.1_Silent_p.P339P|PKHD1_uc003pai.2_Silent_p.P2356P NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 2356 Extracellular (Potential). cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body protein binding|receptor activity p.P2356P(1) lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1) 44 Lung NSC(77;0.0605) AGGAAAGAAGCGGAGCTTGTG 0.388 C6orf165 154313 broad.mit.edu 37 6 88170826 88170826 + Silent SNP G A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr6:88170826G>A uc003plv.2 + 12 1673 c.1581G>A c.(1579-1581)ACG>ACA p.T527T SLC35A1_uc003plx.2_RNA|C6orf165_uc003plw.2_Silent_p.T339T|C6orf165_uc010kbv.1_RNA NM_001031743 NP_001026913 Q8IYR0 CF165_HUMAN hypothetical protein LOC154313 isoform 1 527 central_nervous_system(1) 1 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) TGCCACCAACGATTGTGAGAT 0.328 SDK1 221935 broad.mit.edu 37 7 4215452 4215452 + Missense_Mutation SNP T C C TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr7:4215452T>C uc003smx.2 + 34 5121 c.4982T>C c.(4981-4983)ATG>ACG p.M1661T SDK1_uc010kso.2_Intron|SDK1_uc003smy.2_Missense_Mutation_p.M148T NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1661 Fibronectin type-III 10. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) ACATCGACGATGTGTGAACTA 0.582 GPR141 353345 broad.mit.edu 37 7 37780665 37780665 + Missense_Mutation SNP C G G TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr7:37780665C>G uc003tfm.1 + 1 670 c.670C>G c.(670-672)CAG>GAG p.Q224E uc003tfl.2_Intron NM_181791 NP_861456 Q7Z602 GP141_HUMAN G protein-coupled receptor 141 224 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3) 3 GTTCTGGGCTCAGCTGAAAAA 0.438 GLI3 2737 broad.mit.edu 37 7 42004153 42004153 + Silent SNP G A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr7:42004153G>A uc011kbh.1 - 15 4609 c.4518C>T c.(4516-4518)TTC>TTT p.F1506F GLI3_uc011kbg.1_Silent_p.F1447F NM_000168 NP_000159 P10071 GLI3_HUMAN GLI-Kruppel family member GLI3 1506 Asp/Glu-rich (acidic). negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis cilium|cytosol|nucleolus beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(11)|ovary(3)|large_intestine(2)|central_nervous_system(1)|kidney(1)|pancreas(1) 19 TGATGGCATCGAAGTCAATCT 0.552 Greig_Cephalopolysyndactyly|Pallister-Hall_syndrome SEMA3E 9723 broad.mit.edu 37 7 83095907 83095907 + Missense_Mutation SNP G T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr7:83095907G>T uc003uhy.1 - 4 813 c.347C>A c.(346-348)GCA>GAA p.A116E NM_012431 NP_036563 O15041 SEM3E_HUMAN semaphorin 3E precursor 116 Sema. axon guidance extracellular space|membrane receptor activity ovary(3) 3 Medulloblastoma(109;0.109) AACATAATTTGCACATTCACC 0.388 SAMD9L 219285 broad.mit.edu 37 7 92763418 92763418 + Missense_Mutation SNP T G G TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr7:92763418T>G uc003umh.1 - 5 3083 c.1867A>C c.(1867-1869)AAA>CAA p.K623Q SAMD9L_uc003umj.1_Missense_Mutation_p.K623Q|SAMD9L_uc003umi.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfb.1_Missense_Mutation_p.K623Q|SAMD9L_uc003umk.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfc.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfd.1_Missense_Mutation_p.K623Q|SAMD9L_uc011khx.1_Intron NM_152703 NP_689916 Q8IVG5 SAM9L_HUMAN sterile alpha motif domain containing 9-like 623 ovary(4) 4 all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989) STAD - Stomach adenocarcinoma(171;0.000302) GATTTTAGTTTAAGGATAGTG 0.383 TRRAP 8295 broad.mit.edu 37 7 98581850 98581850 + Missense_Mutation SNP G A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr7:98581850G>A uc003upp.2 + 60 9378 c.9169G>A c.(9169-9171)GCT>ACT p.A3057T TRRAP_uc011kis.1_Missense_Mutation_p.A3028T|TRRAP_uc003upr.2_Missense_Mutation_p.A2745T NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 3057 FAT. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GGTCAATGTAGCTCTGGATAT 0.448 ZCWPW1 55063 broad.mit.edu 37 7 99998699 99998699 + Missense_Mutation SNP C T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr7:99998699C>T uc003uut.2 - 18 2133 c.1885G>A c.(1885-1887)GGG>AGG p.G629R ZCWPW1_uc011kjq.1_Missense_Mutation_p.G509R|ZCWPW1_uc003uur.2_3'UTR|ZCWPW1_uc003uus.2_Missense_Mutation_p.G458R|ZCWPW1_uc011kjr.1_3'UTR|ZCWPW1_uc011kjp.1_RNA NM_017984 NP_060454 Q9H0M4 ZCPW1_HUMAN zinc finger, CW type with PWWP domain 1 629 zinc ion binding 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) TGCAGCTCCCCGCTCTGCCCC 0.602 NEFM 4741 broad.mit.edu 37 8 24772136 24772136 + Missense_Mutation SNP T C C TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr8:24772136T>C uc003xed.3 + 1 863 c.830T>C c.(829-831)CTC>CCC p.L277P NEFM_uc011lac.1_Missense_Mutation_p.L277P|NEFM_uc010lue.2_5'Flank|uc010luc.1_5'UTR NM_005382 NP_005373 P07197 NFM_HUMAN neurofilament, medium polypeptide 150kDa isoform 277 Rod.|Coil 2A. neurofilament protein binding|structural constituent of cytoskeleton breast(1) 1 Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) CGCTCCCAGCTCGAAAGCCAC 0.587 ANK1 286 broad.mit.edu 37 8 41753935 41753935 + Missense_Mutation SNP G C C TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr8:41753935G>C uc003xom.2 - 1 346 c.64C>G c.(64-66)CAG>GAG p.Q22E NM_001142446 NP_001135918 P16157 ANK1_HUMAN ankyrin 1 isoform 9 Error:Variant_position_missing_in_P16157_after_alignment axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton ovary(3)|central_nervous_system(3)|lung(2)|breast(1) 9 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) TTCTCCTTCTGCTCCTGGAGG 0.637 RALYL 138046 broad.mit.edu 37 8 85774569 85774569 + Missense_Mutation SNP G A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr8:85774569G>A uc003ycq.3 + 7 868 c.452G>A c.(451-453)CGT>CAT p.R151H RALYL_uc003ycr.3_Missense_Mutation_p.R151H|RALYL_uc003ycs.3_Missense_Mutation_p.R151H|RALYL_uc010lzy.2_Missense_Mutation_p.R140H|RALYL_uc003yct.3_Missense_Mutation_p.R164H|RALYL_uc003ycu.3_Missense_Mutation_p.R78H|RALYL_uc003ycv.3_Missense_Mutation_p.R63H NM_001100392 NP_001093862 Q86SE5 RALYL_HUMAN RALY RNA binding protein-like isoform 2 151 identical protein binding|nucleotide binding|RNA binding ovary(1) 1 CCACCTCCCCGTGCAGTAATT 0.498 KCNS2 3788 broad.mit.edu 37 8 99440635 99440635 + Missense_Mutation SNP G A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr8:99440635G>A uc003yin.2 + 2 778 c.428G>A c.(427-429)AGC>AAC p.S143N NM_020697 NP_065748 Q9ULS6 KCNS2_HUMAN potassium voltage-gated channel, 143 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1) 1 Breast(36;2.4e-06) OV - Ovarian serous cystadenocarcinoma(57;0.0448) GACCAGGAGAGCACCACGTCT 0.582 FLJ43859 389761 broad.mit.edu 37 9 84547720 84547720 + Missense_Mutation SNP G C C rs138456481 by1000genomes TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr9:84547720G>C uc004amh.2 + 4 2730 c.2644G>C c.(2644-2646)GGC>CGC p.G882R uc004ami.1_Intron|uc004amj.1_5'Flank NM_001145197 NP_001138669 Q6ZUB0 YI020_HUMAN hypothetical protein LOC389761 882 integral to membrane 0 TGAGGACCACGGCGTTGATAC 0.418 Unknown 0 broad.mit.edu 37 9 88460853 88460853 + Missense_Mutation SNP A G G TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr9:88460853A>G uc004aoh.1 + 9 1441 c.338A>G c.(337-339)CAA>CGA p.Q113R RecName: Full=Kinesin-like protein KIF27; ACTGAAACACAAAAGCAGCTA 0.393 SNX30 401548 broad.mit.edu 37 9 115598647 115598647 + Missense_Mutation SNP A T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chr9:115598647A>T uc004bgj.3 + 5 920 c.772A>T c.(772-774)ACC>TCC p.T258S SNX30_uc004bgi.3_5'Flank NM_001012994 NP_001013012 Q5VWJ9 SNX30_HUMAN sorting nexin family member 30 258 cell communication|protein transport cytoplasm phosphatidylinositol binding 0 CAAACTGGGAACCATTGATCG 0.498 FRMD7 90167 broad.mit.edu 37 X 131212279 131212279 + Missense_Mutation SNP C A A TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chrX:131212279C>A uc004ewn.2 - 12 1944 c.1766G>T c.(1765-1767)AGG>ATG p.R589M FRMD7_uc011muy.1_Missense_Mutation_p.R574M NM_194277 NP_919253 Q6ZUT3 FRMD7_HUMAN FERM domain containing 7 589 regulation of neuron projection development cytoskeleton|growth cone|neuronal cell body binding skin(1) 1 Acute lymphoblastic leukemia(192;0.000127) GCTCTGGGACCTTTTAGGGGT 0.433 GPR50 9248 broad.mit.edu 37 X 150349759 150349759 + Silent SNP C T T TCGA-27-2527-01A-01D-1494-08 TCGA-27-2527-10A-01D-1494-08 Somatic Phase_I Capture Illumina GAIIx b8b00995-ada6-493b-bafc-0f6c9def41c9 42ed562f-33ed-4798-a495-42594968feff g.chrX:150349759C>T uc010ntg.1 + 2 1839 c.1704C>T c.(1702-1704)GCC>GCT p.A568A NM_004224 NP_004215 Q13585 MTR1L_HUMAN G protein-coupled receptor 50 568 Cytoplasmic (Potential).|Pro-rich. cell-cell signaling integral to plasma membrane melatonin receptor activity large_intestine(1)|lung(1)|ovary(1)|pancreas(1) 4 Acute lymphoblastic leukemia(192;6.56e-05) CTAGCCCTGCCGCTGGGCCCA 0.602