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 C1orf144 26099 broad.mit.edu 37 1 16719932 16719932 + Missense_Mutation SNP G G C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:16719932G>C uc001aym.3 + 3 481 c.311G>C c.(310-312)GGC>GCC p.G104A C1orf144_uc010ocb.1_Missense_Mutation_p.G84A|C1orf144_uc001ayi.3_Missense_Mutation_p.G85A|C1orf144_uc001ayk.3_Missense_Mutation_p.G84A NM_001114600 NP_001108072 Q7Z422 CA144_HUMAN putative MAPK activating protein PM20,PM21 104 0 Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.12e-05)|Kidney(64;0.00018)|KIRC - Kidney renal clear cell carcinoma(64;0.00267)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649) CGGATCCTGGGCAGCGCCAGC 0.677000 CSMD2 114784 broad.mit.edu 37 1 34238265 34238265 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:34238265T>G uc001bxn.1 - 13 1660 c.1631A>C c.(1630-1632)AAG>ACG p.K544T CSMD2_uc001bxm.1_Missense_Mutation_p.K584T NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN CUB and Sushi multiple domains 2 544 Sushi 3.|Extracellular (Potential). integral to membrane|plasma membrane protein binding ovary(6)|skin(5)|pancreas(1) 12 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) GCACTCAAACTTGAGTGTGTC 0.557000 GJA9 81025 broad.mit.edu 37 1 39341098 39341098 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:39341098A>C uc001cct.1 - 2 954 c.673T>G c.(673-675)TTA>GTA p.L225V RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.2_5'Flank NM_030772 NP_110399 P57773 CXA9_HUMAN gap junction protein, alpha 9, 59kDa 225 Helical; (Potential). cell communication connexon complex|integral to membrane 0 Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0393) OV - Ovarian serous cystadenocarcinoma(33;8.23e-17) AGAATGTTTAAGAAAAGTGAA 0.328000 RLF 6018 broad.mit.edu 37 1 40704945 40704945 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:40704945A>C uc001cfc.3 + 8 4602 c.4571A>C c.(4570-4572)AAG>ACG p.K1524T RLF_uc001cfd.3_Missense_Mutation_p.K1215T NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 1524 chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) ATCAAAGAAAAGAAAGCCCCA 0.433000 RLF 6018 broad.mit.edu 37 1 40705056 40705056 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:40705056A>C uc001cfc.3 + 8 4713 c.4682A>C c.(4681-4683)AAG>ACG p.K1561T RLF_uc001cfd.3_Missense_Mutation_p.K1252T NM_012421 NP_036553 Q13129 RLF_HUMAN rearranged L-myc fusion 1561 C2H2-type 14. chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding ovary(2)|pancreas(1) 3 Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074) Myeloproliferative disorder(586;0.0255) OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461) TCTGTGGTGAAGTTGGAGAGC 0.453000 PGM1 5236 broad.mit.edu 37 1 64097413 64097413 + Silent SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:64097413G>A uc001dbh.2 + 4 855 c.642G>A c.(640-642)GGG>GGA p.G214G PGM1_uc010ooy.1_Silent_p.G17G|PGM1_uc010ooz.1_Silent_p.G232G NM_002633 NP_002624 P36871 PGM1_HUMAN phosphoglucomutase 1 214 cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process cytosol magnesium ion binding|phosphoglucomutase activity ovary(2)|kidney(1) 3 TACTTTCTGGGCCAAACCGAC 0.418000 COL24A1 255631 broad.mit.edu 37 1 86590762 86590762 + Silent SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:86590762G>A uc001dlj.2 - 3 1299 c.1257C>T c.(1255-1257)AAC>AAT p.N419N COL24A1_uc010osd.1_Translation_Start_Site|COL24A1_uc001dlk.2_RNA|COL24A1_uc010ose.1_RNA|COL24A1_uc010osf.1_RNA|COL24A1_uc009wcq.2_Silent_p.N419N NM_152890 NP_690850 Q17RW2 COOA1_HUMAN collagen, type XXIV, alpha 1 precursor 419 cell adhesion collagen extracellular matrix structural constituent ovary(3)|central_nervous_system(1)|skin(1) 5 all cancers(265;0.0627)|Epithelial(280;0.0689) CCATGAGTTCGTTAGTGTGTA 0.363000 GBP4 115361 broad.mit.edu 37 1 89657186 89657186 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:89657186T>C uc001dnb.2 - 6 790 c.674A>G c.(673-675)AAG>AGG p.K225R NM_052941 NP_443173 Q96PP9 GBP4_HUMAN guanylate binding protein 4 225 cytoplasm GTP binding|GTPase activity 0 all cancers(265;0.00723)|Epithelial(280;0.0291) TTTGGGATTCTTGCCTGTGGA 0.473000 CCDC18 343099 broad.mit.edu 37 1 93705450 93705450 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:93705450T>G uc001dpq.2 + 21 3500 c.3332T>G c.(3331-3333)CTT>CGT p.L1111R CCDC18_uc009wdl.1_Missense_Mutation_p.L628R NM_206886 NP_996769 Q5T9S5 CCD18_HUMAN sarcoma antigen NY-SAR-41 992 Potential. 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) ACAGCTGAACTTAGGTGAGTT 0.313000 SPAG17 200162 broad.mit.edu 37 1 118558604 118558604 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:118558604T>C uc001ehk.2 - 29 4339 c.4271A>G c.(4270-4272)GAT>GGT p.D1424G NM_206996 NP_996879 Q6Q759 SPG17_HUMAN sperm associated antigen 17 1424 cilium|flagellar axoneme|microtubule upper_aerodigestive_tract(2)|ovary(2)|large_intestine(1)|skin(1) 6 Esophageal squamous(2;0.0106) all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01) Lung(183;0.0858) ATTGACAGGATCTGTGGCCTG 0.343000 NBPF7 343505 broad.mit.edu 37 1 120378693 120378693 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:120378693T>G uc010oxk.1 - 7 1674 c.1053A>C c.(1051-1053)AAA>AAC p.K351N NM_001047980 NP_001041445 P0C2Y1 NBPF7_HUMAN hypothetical protein LOC343505 351 NBPF 2. cytoplasm ovary(1)|skin(1) 2 all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234) all_lung(203;3.66e-05)|Lung NSC(69;0.000192)|all_epithelial(167;0.0347) Lung(183;0.0103)|LUSC - Lung squamous cell carcinoma(189;0.0544) CAGAGCAAACTTTCTGTTCAA 0.488000 PDE4DIP 9659 broad.mit.edu 37 1 144866714 144866714 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:144866714A>C uc001elw.3 - 34 5819 c.5528T>G c.(5527-5529)CTG>CGG p.L1843R NBPF10_uc009wir.2_Intron|NBPF9_uc010oye.1_Intron|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|PDE4DIP_uc001elx.3_Missense_Mutation_p.L1737R|PDE4DIP_uc001elv.3_Missense_Mutation_p.L850R|PDE4DIP_uc001ema.2_Missense_Mutation_p.L30R NM_014644 NP_055459 Q5VU43 MYOME_HUMAN phosphodiesterase 4D interacting protein isoform 1843 Potential. cellular protein complex assembly centrosome|Golgi apparatus|myofibril|nucleus enzyme binding ovary(4)|haematopoietic_and_lymphoid_tissue(1) 5 Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126) CTCTTCCAGCAGGTCAGCCCC 0.607000 T PDGFRB MPD LINGO4 339398 broad.mit.edu 37 1 151774162 151774162 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:151774162T>C uc001ezf.1 - 2 1209 c.1019A>G c.(1018-1020)GAG>GGG p.E340G NM_001004432 NP_001004432 Q6UY18 LIGO4_HUMAN leucine rich repeat and Ig domain containing 4 340 Extracellular (Potential).|LRR 11. integral to membrane large_intestine(1) 1 Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14) LUSC - Lung squamous cell carcinoma(543;0.181) AGCTGTTTCCTCTAGTGTCTG 0.592000 NES 10763 broad.mit.edu 37 1 156640713 156640713 + Silent SNP G G C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:156640713G>C uc001fpq.2 - 4 3400 c.3267C>G c.(3265-3267)GCC>GCG p.A1089A NM_006617 NP_006608 P48681 NEST_HUMAN nestin 1089 Tail. brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation cytoplasm|intermediate filament intermediate filament binding|structural molecule activity ovary(6) 6 all_hematologic(923;0.088)|Hepatocellular(266;0.158) ACTCACCCATGGCAGGCTCTG 0.677000 MNDA 4332 broad.mit.edu 37 1 158815416 158815416 + Silent SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:158815416A>C uc001fsz.1 + 5 810 c.610A>C c.(610-612)AGA>CGA p.R204R NM_002432 NP_002423 P41218 MNDA_HUMAN myeloid cell nuclear differentiation antigen 204 HIN-200. B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent cytoplasm|nucleus DNA binding ovary(2)|skin(2) 4 all_hematologic(112;0.0378) GGATGCAAGAAGAAATGTTCC 0.423000 FCRL6 343413 broad.mit.edu 37 1 159778997 159778997 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:159778997T>G uc001fud.3 + 4 608 c.566T>G c.(565-567)GTC>GGC p.V189G FCRL6_uc010pix.1_3'UTR|FCRL6_uc001fuc.2_Missense_Mutation_p.V196G|FCRL6_uc009wsz.1_Intron|FCRL6_uc009wta.2_Missense_Mutation_p.V189G NM_001004310 NP_001004310 Q6DN72 FCRL6_HUMAN Fc receptor-like 6 precursor 189 Ig-like C2-type 2.|Extracellular (Potential). integral to membrane ovary(2)|skin(1) 3 all_hematologic(112;0.0597) GGTGGCCAGGTCCAGAAGCAG 0.657000 ZNF648 127665 broad.mit.edu 37 1 182025473 182025473 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:182025473T>C uc001goz.2 - 2 1881 c.1673A>G c.(1672-1674)AAG>AGG p.K558R NM_001009992 NP_001009992 Q5T619 ZN648_HUMAN zinc finger protein 648 558 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GGGCTCCTTCTTGCAGGTGCC 0.587000 CRB1 23418 broad.mit.edu 37 1 197404424 197404424 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:197404424A>C uc001gtz.2 + 9 3566 c.3431A>C c.(3430-3432)AAC>ACC p.N1144T CRB1_uc010poz.1_Missense_Mutation_p.N1120T|CRB1_uc010ppa.1_RNA|CRB1_uc009wza.2_Missense_Mutation_p.N1032T|CRB1_uc010ppb.1_Intron|CRB1_uc010ppd.1_Missense_Mutation_p.N625T|CRB1_uc001gub.1_Missense_Mutation_p.N793T NM_201253 NP_957705 P82279 CRUM1_HUMAN crumbs homolog 1 precursor 1144 Extracellular (Potential).|EGF-like 15. cell-cell signaling|establishment or maintenance of cell polarity apical plasma membrane|extracellular region|integral to membrane calcium ion binding|protein binding ovary(5)|skin(3)|large_intestine(1) 9 AATGTCTGCAACTCCAACCCC 0.423000 PPFIA4 8497 broad.mit.edu 37 1 203045504 203045504 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:203045504G>A uc001gyz.2 + 17 2685 c.2092G>A c.(2092-2094)GCC>ACC p.A698T PPFIA4_uc009xaj.2_Missense_Mutation_p.A1329T|PPFIA4_uc010pqf.1_Missense_Mutation_p.A911T|PPFIA4_uc001gza.2_Missense_Mutation_p.A689T|PPFIA4_uc001gzb.1_3'UTR|PPFIA4_uc001gzc.1_3'UTR NM_015053 NP_055868 O75335 LIPA4_HUMAN protein tyrosine phosphatase, receptor type, f 698 cell communication cell surface|cytoplasm protein binding ovary(4)|skin(1) 5 CATGCTCTCCGCCTTCCGGGA 0.617000 IL19 29949 broad.mit.edu 37 1 206972263 206972263 + Silent SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:206972263G>A uc001heo.2 + 1 49 c.24G>A c.(22-24)CCG>CCA p.P8P NM_153758 NP_715639 Q9UHD0 IL19_HUMAN interleukin 19 isoform 1 precursor Error:Variant_position_missing_in_Q9UHD0_after_alignment apoptosis|immune response|signal transduction extracellular space cytokine activity ovary(1)|central_nervous_system(1) 2 BRCA - Breast invasive adenocarcinoma(75;0.211) GAGCGTTTCCGCACAGATCTG 0.483000 G0S2 50486 broad.mit.edu 37 1 209849270 209849270 + Missense_Mutation SNP C C A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:209849270C>A uc001hhi.3 + 2 498 c.241C>A c.(241-243)CAG>AAG p.Q81K NM_015714 NP_056529 P27469 G0S2_HUMAN G0/G1switch 2 81 cell cycle 0 OV - Ovarian serous cystadenocarcinoma(81;0.041) GCAAGCCCTGCAGGAGAAAGG 0.701000 TGFB2 7042 broad.mit.edu 37 1 218607431 218607431 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:218607431A>C uc001hlm.2 + 3 1171 c.518A>C c.(517-519)AAG>ACG p.K173T TGFB2_uc001hln.2_Missense_Mutation_p.K201T|TGFB2_uc010pue.1_RNA|TGFB2_uc001hlo.2_RNA NM_003238 NP_003229 P61812 TGFB2_HUMAN transforming growth factor, beta 2 isoform 2 173 activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding 0 all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776) CAGATTCTCAAGTCCAAAGAT 0.423000 MIA3 375056 broad.mit.edu 37 1 222794619 222794619 + Missense_Mutation SNP A A T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:222794619A>T uc001hnl.2 + 2 261 c.252A>T c.(250-252)GAA>GAT p.E84D NM_198551 NP_940953 Q5JRA6 MIA3_HUMAN melanoma inhibitory activity family, member 3 84 SH3.|Extracellular (Potential). exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing endoplasmic reticulum membrane|integral to membrane protein binding ovary(4)|central_nervous_system(1) 5 GBM - Glioblastoma multiforme(131;0.0199) GATGGCCTGAAGTTTGGGCTG 0.363000 OBSCN 84033 broad.mit.edu 37 1 228462138 228462138 + Silent SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:228462138C>T uc009xez.1 + 19 5720 c.5676C>T c.(5674-5676)ACC>ACT p.T1892T OBSCN_uc001hsn.2_Silent_p.T1892T NM_001098623 NP_001092093 Q5VST9 OBSCN_HUMAN obscurin, cytoskeletal calmodulin and 1892 Ig-like 18. apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|M band|Z disc ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding stomach(8)|large_intestine(7)|breast(5)|ovary(4)|skin(2)|central_nervous_system(1)|pancreas(1) 28 Prostate(94;0.0405) CGCAGCTCACCGTCAGTGGTA 0.637000 KIAA1804 84451 broad.mit.edu 37 1 233512225 233512225 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:233512225A>C uc001hvt.3 + 8 2137 c.1876A>C c.(1876-1878)AAA>CAA p.K626Q KIAA1804_uc001hvu.3_Missense_Mutation_p.K72Q NM_032435 NP_115811 Q5TCX8 M3KL4_HUMAN mixed lineage kinase 4 626 activation of JUN kinase activity|protein autophosphorylation ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity lung(5)|central_nervous_system(2)|skin(1) 8 all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122) TATCTTAATAAAAAATCAGAA 0.413000 TFB2M 64216 broad.mit.edu 37 1 246707908 246707908 + Missense_Mutation SNP A A T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:246707908A>T uc001ibn.2 - 7 1059 c.934T>A c.(934-936)TTA>ATA p.L312I NM_022366 NP_071761 Q9H5Q4 TFB2M_HUMAN transcription factor B2, mitochondrial 312 positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter mitochondrial nucleoid protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity ovary(1) 1 all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376) OV - Ovarian serous cystadenocarcinoma(106;0.00358) ATAGGTGTTAAGTTCTTGGTA 0.333000 OR2B11 127623 broad.mit.edu 37 1 247614782 247614782 + Missense_Mutation SNP A A T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:247614782A>T uc010pyx.1 - 1 503 c.503T>A c.(502-504)GTG>GAG p.V168E NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 168 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-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) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) TGGCAATTGCACCGTCAGGAC 0.592000 OR2T6 254879 broad.mit.edu 37 1 248551780 248551780 + Missense_Mutation SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:248551780A>G uc001iei.1 + 1 871 c.871A>G c.(871-873)AGT>GGT p.S291G NM_001005471 NP_001005471 Q8NHC8 OR2T6_HUMAN olfactory receptor, family 2, subfamily T, 291 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) TCTCATCTACAGTCTGAGGAA 0.448000 ITIH5 80760 broad.mit.edu 37 10 7658034 7658034 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr10:7658034A>C uc001ijq.2 - 7 929 c.850T>G c.(850-852)TTT>GTT p.F284V ITIH5_uc001ijp.2_Missense_Mutation_p.F70V|ITIH5_uc001ijr.1_Missense_Mutation_p.F284V NM_030569 NP_085046 Q86UX2 ITIH5_HUMAN inter-alpha trypsin inhibitor heavy chain 284 hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity ovary(2)|central_nervous_system(2) 4 TTAGGAGCAAAGTAGTGCACA 0.468000 APBB1IP 54518 broad.mit.edu 37 10 26789970 26789970 + Nonsense_Mutation SNP T T A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr10:26789970T>A uc001iss.2 + 5 704 c.383T>A c.(382-384)TTA>TAA p.L128* APBB1IP_uc001isr.2_Nonsense_Mutation_p.L128*|APBB1IP_uc009xks.1_Nonsense_Mutation_p.L128* NM_019043 NP_061916 Q7Z5R6 AB1IP_HUMAN amyloid beta (A4) precursor protein-binding, 128 blood coagulation|signal transduction cytoskeleton|cytosol|focal adhesion|lamellipodium lung(4)|skin(2)|central_nervous_system(1) 7 GAGGATGACTTACCACCTCCA 0.502000 SVIL 6840 broad.mit.edu 37 10 29813446 29813446 + Silent SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr10:29813446G>A uc001iut.1 - 14 3294 c.2541C>T c.(2539-2541)AAC>AAT p.N847N SVIL_uc010qdw.1_5'Flank|SVIL_uc001iuu.1_Silent_p.N421N NM_021738 NP_068506 O95425 SVIL_HUMAN supervillin isoform 2 847 cytoskeleton organization|skeletal muscle tissue development cell junction|costamere|invadopodium|nucleus|podosome actin filament binding ovary(5)|upper_aerodigestive_tract(1) 6 Breast(68;0.103) GATAGCGAGCGTTCATTCTCC 0.478000 ZEB1 6935 broad.mit.edu 37 10 31809813 31809813 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr10:31809813A>C uc001ivs.3 + 7 1613 c.1550A>C c.(1549-1551)GAG>GCG p.E517A ZEB1_uc001ivr.3_Missense_Mutation_p.E299A|ZEB1_uc010qee.1_Missense_Mutation_p.E299A|ZEB1_uc010qef.1_Missense_Mutation_p.E299A|ZEB1_uc009xlj.1_Missense_Mutation_p.E443A|ZEB1_uc010qeg.1_Missense_Mutation_p.E376A|ZEB1_uc009xlk.1_Missense_Mutation_p.E299A|ZEB1_uc001ivt.3_Missense_Mutation_p.E299A|ZEB1_uc001ivu.3_Missense_Mutation_p.E518A|ZEB1_uc001ivv.3_Missense_Mutation_p.E497A|ZEB1_uc010qeh.1_Missense_Mutation_p.E450A|ZEB1_uc009xlo.1_Missense_Mutation_p.E500A|ZEB1_uc009xlp.2_Missense_Mutation_p.E501A NM_030751 NP_110378 P37275 ZEB1_HUMAN zinc finger E-box binding homeobox 1 isoform b 517 cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation cytoplasm E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding ovary(3)|central_nervous_system(2) 5 Prostate(175;0.0156) GTTAAGTCTGAGAAGGACAAA 0.363000 EPC1 80314 broad.mit.edu 37 10 32560982 32560982 + Silent SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr10:32560982G>A uc001iwg.1 - 13 2316 c.2046C>T c.(2044-2046)ATC>ATT p.I682I EPC1_uc001iwi.3_Silent_p.I609I|EPC1_uc001iwh.1_Silent_p.I659I NM_025209 NP_079485 Q9H2F5 EPC1_HUMAN enhancer of polycomb 1 682 histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex ovary(3)|central_nervous_system(1) 4 Prostate(175;0.0199) CATTCACCCCGATTCCAAGCA 0.388000 NRP1 8829 broad.mit.edu 37 10 33515169 33515169 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr10:33515169C>T uc001iwx.3 - 7 1553 c.1030G>A c.(1030-1032)GCC>ACC p.A344T NRP1_uc001iwv.3_Missense_Mutation_p.A344T|NRP1_uc009xlz.2_Missense_Mutation_p.A344T|NRP1_uc001iww.3_Missense_Mutation_p.A163T|NRP1_uc001iwy.3_Missense_Mutation_p.A344T|NRP1_uc001iwz.2_Missense_Mutation_p.A344T|NRP1_uc001ixa.2_Missense_Mutation_p.A344T|NRP1_uc001ixb.1_Missense_Mutation_p.A344T|NRP1_uc001ixc.1_Missense_Mutation_p.A344T NM_003873 NP_003864 O14786 NRP1_HUMAN neuropilin 1 isoform a 344 F5/8 type C 1.|Extracellular (Potential). axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation extracellular region|integral to membrane|plasma membrane growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity central_nervous_system(2)|ovary(1)|skin(1) 4 Palifermin(DB00039)|Pegaptanib(DB04895) TTTGAAATGGCGCCCTGTGTC 0.483000 FZD8 8325 broad.mit.edu 37 10 35928827 35928827 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr10:35928827G>A uc001iyz.1 - 1 1536 c.1531C>T c.(1531-1533)CGC>TGC p.R511C NM_031866 NP_114072 Q9H461 FZD8_HUMAN frizzled 8 precursor 511 Cytoplasmic (Potential). axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development cell projection|Golgi apparatus|integral to membrane|plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding 0 ATGACCGAGCGGATGCGGAAG 0.637000 MARCH8 220972 broad.mit.edu 37 10 45954591 45954591 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr10:45954591T>C uc001jci.1 - 6 787 c.548A>G c.(547-549)GAG>GGG p.E183G MARCH8_uc001jch.2_Missense_Mutation_p.E465G|MARCH8_uc001jcj.1_Missense_Mutation_p.E183G|MARCH8_uc001jck.1_Missense_Mutation_p.E183G|uc001jcf.2_5'Flank|MARCH8_uc001jcg.1_Missense_Mutation_p.E52G NM_001002266 NP_001002266 Q5T0T0 MARH8_HUMAN cellular modulator of immune recognition isoform 183 cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding 0 CTGCTTGATCTCCTCAGCAGT 0.557000 AGAP7 653268 broad.mit.edu 37 10 51465248 51465248 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr10:51465248G>A uc001jio.2 - 7 1334 c.1208C>T c.(1207-1209)ACG>ATG p.T403M PARG_uc001jih.2_Intron|uc010qha.1_Intron|uc001jin.2_Intron|uc010qhb.1_Intron|uc010qhc.1_Intron NM_001077685 NP_001071153 Q5VUJ5 AGAP7_HUMAN ArfGAP with GTPase domain, ankyrin repeat and PH 403 PH. regulation of ARF GTPase activity ARF GTPase activator activity|zinc ion binding 0 CTCATATGTCGTGGCTTCAAA 0.512000 PRKG1 5592 broad.mit.edu 37 10 53564348 53564348 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr10:53564348T>G uc001jjm.2 + 4 745 c.551T>G c.(550-552)CTT>CGT p.L184R PRKG1_uc001jjn.2_Missense_Mutation_p.L199R|PRKG1_uc001jjo.2_Missense_Mutation_p.L199R NM_001098512 NP_001091982 Q13976 KGP1_HUMAN protein kinase, cGMP-dependent, type I isoform 184 cGMP 1. actin cytoskeleton organization|platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity lung(2)|stomach(1)|ovary(1)|central_nervous_system(1)|skin(1) 6 all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173) all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606) TCTCCAGCTCTTGTAAATGTA 0.343000 RHOBTB1 9886 broad.mit.edu 37 10 62631271 62631271 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr10:62631271C>T uc001jli.2 - 12 2498 c.2060G>A c.(2059-2061)TGC>TAC p.C687Y RHOBTB1_uc001jlh.2_Missense_Mutation_p.C687Y|RHOBTB1_uc001jlj.2_Missense_Mutation_p.C687Y|RHOBTB1_uc001jlk.2_Missense_Mutation_p.C687Y|RHOBTB1_uc009xpe.1_Missense_Mutation_p.C625Y|RHOBTB1_uc009xpd.2_3'UTR|RHOBTB1_uc001jll.2_Missense_Mutation_p.C437Y NM_014836 NP_055651 O94844 RHBT1_HUMAN Rho-related BTB domain containing 1 687 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding upper_aerodigestive_tract(1) 1 Prostate(12;0.0112) ATTCCAGAAGCACCACTTTCG 0.428000 SIRT1 23411 broad.mit.edu 37 10 69672625 69672625 + Silent SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr10:69672625T>G uc001jnd.2 + 8 1805 c.1752T>G c.(1750-1752)ACT>ACG p.T584T SIRT1_uc010qis.1_Silent_p.T289T|SIRT1_uc009xpp.2_Silent_p.T392T|SIRT1_uc001jne.2_Silent_p.T281T NM_012238 NP_036370 Q96EB6 SIRT1_HUMAN sirtuin 1 isoform a 584 apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding 0 AAGTACAAACTTCTAGGAATG 0.373000 MYPN 84665 broad.mit.edu 37 10 69882022 69882022 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr10:69882022G>A uc001jnm.3 + 3 1012 c.827G>A c.(826-828)CGG>CAG p.R276Q MYPN_uc001jnl.1_Missense_Mutation_p.R276Q|MYPN_uc001jnn.3_Intron|MYPN_uc001jno.3_Missense_Mutation_p.R276Q|MYPN_uc001jnp.1_Missense_Mutation_p.R276Q|MYPN_uc009xps.2_Missense_Mutation_p.R276Q|MYPN_uc009xpt.2_Missense_Mutation_p.R276Q|MYPN_uc010qit.1_5'UTR|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 276 Interaction with CARP.|Ig-like 1. nucleus|sarcomere actin binding ovary(3)|skin(2) 5 CAAAAGTTACGGAGCAGAGAA 0.493000 SLC29A3 55315 broad.mit.edu 37 10 73082526 73082526 + Silent SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr10:73082526A>C uc001jrr.3 + 2 72 c.15A>C c.(13-15)TCA>TCC p.S5S SLC29A3_uc001jrs.3_Silent_p.S5S|SLC29A3_uc010qjq.1_5'UTR|SLC29A3_uc001jrt.3_5'UTR|SLC29A3_uc001jru.3_5'UTR NM_018344 NP_060814 Q9BZD2 S29A3_HUMAN solute carrier family 29 (nucleoside 5 Cytoplasmic (Potential). nucleobase, nucleoside and nucleotide metabolic process integral to membrane|late endosome membrane|lysosomal membrane nucleoside transmembrane transporter activity 0 CCGTTGTCTCAGAGGACGACT 0.572000 LRIT1 26103 broad.mit.edu 37 10 86001132 86001132 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr10:86001132A>C uc001kcz.1 - 1 86 c.64T>G c.(64-66)TTC>GTC p.F22V NM_015613 NP_056428 Q9P2V4 LRIT1_HUMAN retina specific protein PAL 22 Lumenal (Potential).|LRRNT. integral to endoplasmic reticulum membrane 0 GAGGGGCAGAAGCCCCGGGCC 0.662000 IFIT3 3437 broad.mit.edu 37 10 91098757 91098757 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr10:91098757T>G uc001kgf.2 + 2 574 c.345T>G c.(343-345)ATT>ATG p.I115M LIPA_uc001kgb.3_Intron|LIPA_uc001kgc.3_Intron|uc001kgd.2_Intron|IFIT3_uc001kgg.2_Missense_Mutation_p.I115M NM_001549 NP_001540 O14879 IFIT3_HUMAN interferon-induced protein with 115 TPR 2. type I interferon-mediated signaling pathway protein binding central_nervous_system(1) 1 ATGCTCAGATTTATGTAGATA 0.423000 SORCS1 114815 broad.mit.edu 37 10 108459101 108459101 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr10:108459101T>G uc001kym.2 - 9 1292 c.1284A>C c.(1282-1284)CAA>CAC p.Q428H SORCS1_uc001kyl.2_Missense_Mutation_p.Q428H|SORCS1_uc009xxs.2_Missense_Mutation_p.Q428H|SORCS1_uc001kyn.1_Missense_Mutation_p.Q428H|SORCS1_uc001kyo.2_Missense_Mutation_p.Q428H NM_052918 NP_443150 Q8WY21 SORC1_HUMAN SORCS receptor 1 isoform a 428 Lumenal (Potential). integral to membrane neuropeptide receptor activity|protein binding breast(1)|central_nervous_system(1) 2 Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168) Epithelial(162;1.66e-05)|all cancers(201;0.000689) GGTTCCATTCTTGGACCGCTG 0.483000 GFRA1 2674 broad.mit.edu 37 10 117856235 117856235 + Missense_Mutation SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr10:117856235A>G uc001lcj.2 - 7 1509 c.811T>C c.(811-813)TCA>CCA p.S271P GFRA1_uc001lci.2_Missense_Mutation_p.S266P|GFRA1_uc009xyr.2_Missense_Mutation_p.S266P NM_005264 NP_005255 P56159 GFRA1_HUMAN GDNF family receptor alpha 1 isoform a 271 3. axon guidance anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity ovary(1)|pancreas(1) 2 Lung NSC(174;0.21) all cancers(201;0.0337) ACAGACCTTGACTCTGGCTGG 0.502000 C10orf46 143384 broad.mit.edu 37 10 120467071 120467071 + Missense_Mutation SNP C C A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr10:120467071C>A uc001lds.1 - 4 1110 c.626G>T c.(625-627)AGA>ATA p.R209I C10orf46_uc010qst.1_RNA NM_153810 NP_722517 Q86Y37 CJ046_HUMAN chromosome 10 open reading frame 46 209 ubiquitin-dependent protein catabolic process cullin-RING ubiquitin ligase complex ubiquitin protein ligase binding 0 Lung NSC(174;0.142)|all_lung(145;0.175) all cancers(201;0.0131) TATATTAAATCTTTCAATATA 0.408000 HTRA1 5654 broad.mit.edu 37 10 124273733 124273733 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr10:124273733T>C uc001lgj.2 + 9 1429 c.1301T>C c.(1300-1302)ATA>ACA p.I434T NM_002775 NP_002766 Q92743 HTRA1_HUMAN HtrA serine peptidase 1 precursor 434 PDZ. proteolysis|regulation of cell growth extracellular space insulin-like growth factor binding|serine-type endopeptidase activity 0 all_neural(114;0.0765)|Lung NSC(174;0.133)|all_lung(145;0.163)|Breast(234;0.238) AACGACGTCATAATCAGCATC 0.483000 CPXM2 119587 broad.mit.edu 37 10 125526505 125526505 + Missense_Mutation SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr10:125526505A>G uc001lhk.1 - 10 1788 c.1463T>C c.(1462-1464)CTG>CCG p.L488P CPXM2_uc001lhj.2_RNA NM_198148 NP_937791 Q8N436 CPXM2_HUMAN carboxypeptidase X (M14 family), member 2 488 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) ATTTTCCGACAGAAACCACTC 0.458000 OR51A7 119687 broad.mit.edu 37 11 4928674 4928674 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:4928674T>G uc010qyq.1 + 1 75 c.75T>G c.(73-75)ATT>ATG p.I25M NM_001004749 NP_001004749 Q8NH64 O51A7_HUMAN olfactory receptor, family 51, subfamily A, 25 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19) ATGCCCACATTTGGTTCTCCA 0.473000 LUZP2 338645 broad.mit.edu 37 11 25004695 25004695 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:25004695A>C uc001mqs.2 + 9 855 c.621A>C c.(619-621)AAA>AAC p.K207N LUZP2_uc009yif.2_Missense_Mutation_p.K121N|LUZP2_uc009yig.2_Missense_Mutation_p.K165N NM_001009909 NP_001009909 Q86TE4 LUZP2_HUMAN leucine zipper protein 2 precursor 207 Potential. extracellular region ovary(1)|skin(1) 2 AAGCAATGAAAGAGACTGTGC 0.418000 TTC17 55761 broad.mit.edu 37 11 43425686 43425686 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:43425686G>A uc001mxi.2 + 11 1485 c.1471G>A c.(1471-1473)GCA>ACA p.A491T TTC17_uc001mxh.2_Missense_Mutation_p.A491T|TTC17_uc010rfj.1_Missense_Mutation_p.A434T|TTC17_uc001mxj.2_Missense_Mutation_p.A261T NM_018259 NP_060729 Q96AE7 TTC17_HUMAN tetratricopeptide repeat domain 17 491 binding ovary(5) 5 GGACTCTGATGCATATAGGGT 0.428000 CKAP5 9793 broad.mit.edu 37 11 46831385 46831385 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:46831385T>C uc001ndi.1 - 6 780 c.670A>G c.(670-672)AGT>GGT p.S224G CKAP5_uc009ylg.1_Missense_Mutation_p.S110G|CKAP5_uc001ndj.1_Missense_Mutation_p.S224G NM_001008938 NP_001008938 Q14008 CKAP5_HUMAN colonic and hepatic tumor over-expressed protein 224 cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization centrosome|cytosol protein binding|protein binding ovary(1)|skin(1) 2 CTAGGAGCACTTGTTGGCAGT 0.388000 OR4A5 81318 broad.mit.edu 37 11 51412114 51412114 + Silent SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:51412114A>C uc001nhi.1 - 1 282 c.282T>G c.(280-282)GGT>GGG p.G94G NM_001005272 NP_001005272 Q8NH83 OR4A5_HUMAN olfactory receptor, family 4, subfamily A, 94 Extracellular (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) GGCCCATGCAACCTTGGAAGG 0.448000 OR5L1 219437 broad.mit.edu 37 11 55579495 55579495 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:55579495T>G uc001nhw.1 + 1 553 c.553T>G c.(553-555)TTA>GTA p.L185V NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 185 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) ACCTCCTGTCTTAAGTCTTGC 0.433000 OR5T1 390155 broad.mit.edu 37 11 56043468 56043468 + Silent SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:56043468T>G uc001nio.1 + 1 354 c.354T>G c.(352-354)ACT>ACG p.T118T NM_001004745 NP_001004745 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, 118 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|pancreas(1) 3 Esophageal squamous(21;0.00448) TTGCTTGTACTTTTGGAACCA 0.403000 OR8H1 219469 broad.mit.edu 37 11 56058069 56058069 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:56058069A>C uc010rje.1 - 1 470 c.470T>G c.(469-471)GTC>GGC p.V157G NM_001005199 NP_001005199 Q8NGG4 OR8H1_HUMAN olfactory receptor, family 8, subfamily H, 157 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|pancreas(1)|skin(1) 3 Esophageal squamous(21;0.00448) AACCACATTGACAAAGGAGTT 0.458000 OR5B2 390190 broad.mit.edu 37 11 58189836 58189836 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:58189836T>C uc010rkg.1 - 1 899 c.899A>G c.(898-900)AAG>AGG p.K300R NM_001005566 NP_001005566 Q96R09 OR5B2_HUMAN olfactory receptor, family 5, subfamily B, 300 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3) 3 Esophageal squamous(5;0.0027) Breast(21;0.0778) CAACACTTTCTTGAATGCATT 0.393000 DTX4 23220 broad.mit.edu 37 11 58962713 58962713 + Silent SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:58962713C>T uc001nns.2 + 7 1664 c.1407C>T c.(1405-1407)ACC>ACT p.T469T DTX4_uc001nnr.2_Silent_p.T363T NM_015177 NP_055992 Q9Y2E6 DTX4_HUMAN deltex 4 homolog 469 Notch signaling pathway cytoplasm zinc ion binding lung(2)|central_nervous_system(1) 3 all_epithelial(135;0.125) CCTGCAAGACCATTTATGGGG 0.547000 PGA5 5222 broad.mit.edu 37 11 61017153 61017153 + Silent SNP C C T rs139579497 byFrequency TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:61017153C>T uc001nqz.2 + 7 816 c.786C>T c.(784-786)AAC>AAT p.N262N NM_014224 NP_055039 P00790 PEPA_HUMAN pepsinogen 5, group I precursor 262 digestion|proteolysis extracellular region aspartic-type endopeptidase activity skin(1) 1 TCACCATGAACGGAGAGACCA 0.587000 CCDC88B 283234 broad.mit.edu 37 11 64119683 64119683 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:64119683C>T uc001nzy.2 + 19 3225 c.3181C>T c.(3181-3183)CGG>TGG p.R1061W CCDC88B_uc009ypo.1_Missense_Mutation_p.R1058W|CCDC88B_uc001oaa.2_Missense_Mutation_p.R213W|CCDC88B_uc001oab.1_5'Flank|CCDC88B_uc001oac.2_5'Flank NM_032251 NP_115627 A6NC98 CC88B_HUMAN coiled-coil domain containing 88 1061 Potential. microtubule cytoskeleton organization cytoplasm microtubule binding ovary(3)|skin(1) 4 GCGGGCGGCACGGCAGTCCCA 0.692000 PRSS23 11098 broad.mit.edu 37 11 86519692 86519692 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:86519692T>G uc001pcb.2 + 2 1223 c.1007T>G c.(1006-1008)ATT>AGT p.I336S PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.I304S NM_007173 NP_009104 O95084 PRS23_HUMAN protease, serine, 23 precursor 336 proteolysis extracellular region|nucleus serine-type endopeptidase activity central_nervous_system(1)|pancreas(1) 2 Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824) GAGCGAAAAATTATTGGCATT 0.522000 GRM5 2915 broad.mit.edu 37 11 88780736 88780736 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:88780736G>A uc001pcq.2 - 1 505 c.305C>T c.(304-306)TCG>TTG p.S102L GRM5_uc009yvm.2_Missense_Mutation_p.S102L|GRM5_uc009yvn.1_Missense_Mutation_p.S102L NM_001143831 NP_001137303 P41594 GRM5_HUMAN glutamate receptor, metabotropic 5 isoform a 102 Extracellular (Potential). activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity central_nervous_system(4)|ovary(2)|lung(2)|breast(1) 9 Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834) Acamprosate(DB00659) GGCCACAGCCGAATGCCAGCA 0.527000 CCDC67 159989 broad.mit.edu 37 11 93170867 93170867 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:93170867A>C uc001pdq.2 + 14 1897 c.1797A>C c.(1795-1797)AAA>AAC p.K599N NM_181645 NP_857596 Q05D60 CCD67_HUMAN coiled-coil domain containing 67 599 Potential. ovary(1) 1 Acute lymphoblastic leukemia(157;2.35e-05)|all_hematologic(158;0.00824) CCAAGCTAAAACAAAATAGAC 0.338000 KIAA1377 57562 broad.mit.edu 37 11 101815057 101815057 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:101815057C>T uc001pgm.2 + 3 580 c.310C>T c.(310-312)CTT>TTT p.L104F KIAA1377_uc001pgn.2_Missense_Mutation_p.L60F|KIAA1377_uc009yxa.1_5'UTR NM_020802 NP_065853 Q9P2H0 K1377_HUMAN hypothetical protein LOC57562 104 Potential. protein binding breast(2)|ovary(1)|central_nervous_system(1) 4 all_epithelial(12;0.0104) Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931) BRCA - Breast invasive adenocarcinoma(274;0.038) AGAACAAATACTTCAACAAAG 0.373000 GUCY1A2 2977 broad.mit.edu 37 11 106680788 106680788 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:106680788T>G uc001pjg.1 - 5 2013 c.1623A>C c.(1621-1623)CAA>CAC p.Q541H GUCY1A2_uc010rvo.1_Missense_Mutation_p.Q562H|GUCY1A2_uc009yxn.1_Missense_Mutation_p.Q541H NM_000855 NP_000846 P33402 GCYA2_HUMAN guanylate cyclase 1, soluble, alpha 2 541 Guanylate cyclase. intracellular signal transduction|platelet activation cytoplasm GTP binding|guanylate cyclase activity|heme binding large_intestine(3)|lung(2)|pancreas(2)|ovary(1) 8 all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068) BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476) TGCTGATTACTTGCATGGGAG 0.413000 USP28 57646 broad.mit.edu 37 11 113698007 113698007 + Missense_Mutation SNP G G C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:113698007G>C uc001poh.2 - 11 1168 c.1135C>G c.(1135-1137)CCA>GCA p.P379A USP28_uc001pog.2_Missense_Mutation_p.P87A|USP28_uc010rwy.1_Missense_Mutation_p.P254A|USP28_uc001poi.2_5'UTR|USP28_uc001poj.3_Missense_Mutation_p.P379A NM_020886 NP_065937 Q96RU2 UBP28_HUMAN ubiquitin specific protease 28 379 cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process nucleolus|nucleoplasm protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity lung(2)|breast(2)|ovary(1)|large_intestine(1)|kidney(1) 7 all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425) BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104) ATTTTCTCTGGCTGCCCAAGG 0.393000 ZBTB16 7704 broad.mit.edu 37 11 113934741 113934741 + Missense_Mutation SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:113934741A>G uc001pop.2 + 2 983 c.719A>G c.(718-720)GAG>GGG p.E240G ZBTB16_uc001poo.1_Missense_Mutation_p.E240G|ZBTB16_uc001poq.2_Missense_Mutation_p.E240G NM_006006 NP_005997 Q05516 ZBT16_HUMAN promyelocytic leukemia zinc finger protein 240 apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent nuclear speck|PML body|transcriptional repressor complex protein homodimerization activity|zinc ion binding central_nervous_system(1)|skin(1) 2 all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438) BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018) GGGGTGGCTGAGGTGAAGACG 0.642000 FAM55A 120400 broad.mit.edu 37 11 114400955 114400955 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:114400955T>G uc001ppa.2 - 3 766 c.349A>C c.(349-351)ACC>CCC p.T117P FAM55A_uc010rxd.1_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.T259P NM_152315 NP_689528 Q8N323 FA55A_HUMAN hypothetical protein LOC120400 259 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) TTCCGGGTGGTCATGTAGGTC 0.443000 C11orf63 79864 broad.mit.edu 37 11 122830032 122830032 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:122830032A>C uc001pym.2 + 9 2513 c.2216A>C c.(2215-2217)AAT>ACT p.N739T NM_024806 NP_079082 Q6NUN7 CK063_HUMAN hypothetical protein LOC79864 isoform 1 739 ovary(3) 3 Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311) GAACAAAAAAATCCAACCTAT 0.408000 TMEM225 338661 broad.mit.edu 37 11 123755343 123755343 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:123755343T>C uc001pzi.2 - 2 390 c.182A>G c.(181-183)GAT>GGT p.D61G NM_001013743 NP_001013765 Q6GV28 TM225_HUMAN transmembrane protein 225 61 integral to membrane upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 3 TTTCAGGTCATCTGTTGGAAA 0.428000 ROBO4 54538 broad.mit.edu 37 11 124766979 124766979 + Silent SNP C C A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:124766979C>A uc001qbg.2 - 2 389 c.249G>T c.(247-249)CTG>CTT p.L83L ROBO4_uc010sas.1_Intron|ROBO4_uc001qbh.2_Intron|ROBO4_uc010sat.1_5'Flank NM_019055 NP_061928 Q8WZ75 ROBO4_HUMAN roundabout homolog 4, magic roundabout 83 Ig-like C2-type 1. angiogenesis|cell differentiation integral to membrane receptor activity ovary(1)|skin(1) 2 all_hematologic(175;0.215) Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224) BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301) TCCCATCAGGCAGGAGGTGGT 0.657000 TEAD4 7004 broad.mit.edu 37 12 3131176 3131176 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr12:3131176A>C uc010sej.1 + 10 1164 c.887A>C c.(886-888)AAG>ACG p.K296T TEAD4_uc010sek.1_Missense_Mutation_p.K253T|TEAD4_uc001qln.2_Missense_Mutation_p.K168T NM_003213 NP_003204 Q15561 TEAD4_HUMAN TEA domain family member 4 isoform 1 297 K->A: Important loss of interaction with YAP1 and complete loss of transforming ability. hippo signaling cascade|muscle organ development|skeletal system development DNA binding|protein binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(42;0.211) OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831) TTTCTTGTGAAGTTCTGGGTA 0.537000 A2ML1 144568 broad.mit.edu 37 12 9004872 9004872 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr12:9004872A>C uc001quz.3 + 20 2628 c.2530A>C c.(2530-2532)AGT>CGT p.S844R A2ML1_uc001qva.1_Missense_Mutation_p.S424R|A2ML1_uc010sgm.1_Missense_Mutation_p.S344R NM_144670 NP_653271 A8K2U0 A2ML1_HUMAN alpha-2-macroglobulin-like 1 precursor 688 extracellular space endopeptidase inhibitor activity ovary(2)|skin(1) 3 TCAGACCTCCAGTTGTCTCTG 0.493000 KLRF1 51348 broad.mit.edu 37 12 9995000 9995000 + Silent SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr12:9995000T>G uc010sgw.1 + 6 619 c.555T>G c.(553-555)ACT>ACG p.T185T KLRF1_uc009zgw.2_Silent_p.T136T|KLRF1_uc009zgx.2_RNA|KLRF1_uc001qwm.2_RNA|KLRF1_uc009zgy.2_RNA|KLRF1_uc009zgz.2_Intron|KLRF1_uc009zha.2_Intron NM_016523 NP_057607 Q9NZS2 KLRF1_HUMAN killer cell lectin-like receptor subfamily F, 186 C-type lectin.|Extracellular (Potential). cell surface receptor linked signaling pathway integral to plasma membrane MHC class I receptor activity|sugar binding large_intestine(1) 1 TGACATGGACTTGGGTGGATG 0.373000 CLEC1B 51266 broad.mit.edu 37 12 10149597 10149597 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr12:10149597C>T uc001qwu.2 - 4 486 c.286G>A c.(286-288)GGT>AGT p.G96S CLEC1B_uc009zhd.2_Missense_Mutation_p.G63S NM_016509 NP_057593 Q9P126 CLC1B_HUMAN C-type lectin domain family 1, member B isoform 96 Extracellular (Potential). cell surface receptor linked signaling pathway|defense response integral to plasma membrane protein binding|sugar binding|transmembrane receptor activity 0 CATTTATGACCTTCTGGAGAA 0.408000 ALG10B 144245 broad.mit.edu 37 12 38714574 38714574 + Silent SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr12:38714574G>A uc001rln.3 + 3 1120 c.981G>A c.(979-981)TTG>TTA p.L327L ALG10B_uc001rlo.3_Silent_p.L297L|ALG10B_uc010skk.1_Silent_p.L267L NM_001013620 NP_001013642 Q5I7T1 AG10B_HUMAN asparagine-linked glycosylation 10 homolog B 327 Helical; (Potential). dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane|plasma membrane dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity ovary(2)|skin(1) 3 Esophageal squamous(101;0.187) Lung NSC(34;0.204)|all_lung(34;0.235) TTCTGTTTTTGGTGGTTACCT 0.318000 CPNE8 144402 broad.mit.edu 37 12 39233729 39233729 + Missense_Mutation SNP A A T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr12:39233729A>T uc001rls.1 - 5 403 c.319T>A c.(319-321)TTA>ATA p.L107I NM_153634 NP_705898 Q86YQ8 CPNE8_HUMAN copine VIII 107 C2 1. pancreas(1) 1 Esophageal squamous(101;0.187) Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157) TGTTTGGATAAGTTGGGGCTC 0.239000 ADAMTS20 80070 broad.mit.edu 37 12 43840490 43840490 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr12:43840490T>G uc010skx.1 - 15 2105 c.2105A>C c.(2104-2106)AAC>ACC p.N702T NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 702 Cys-rich. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) GGCACTGGAGTTTAACACGTG 0.318000 LIMA1 51474 broad.mit.edu 37 12 50616015 50616015 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr12:50616015C>T uc001rwj.3 - 4 593 c.419G>A c.(418-420)GGT>GAT p.G140D LIMA1_uc001rwh.3_5'UTR|LIMA1_uc001rwi.3_5'UTR|LIMA1_uc001rwk.3_Missense_Mutation_p.G140D|LIMA1_uc010smr.1_RNA|LIMA1_uc010sms.1_RNA NM_016357 NP_057441 Q9UHB6 LIMA1_HUMAN LIM domain and actin binding 1 isoform b 140 actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization cytoplasm|focal adhesion|stress fiber actin filament binding|actin monomer binding|zinc ion binding ovary(1) 1 GGGATATCGACCCTGAACGAG 0.473000 CALCOCO1 57658 broad.mit.edu 37 12 54108389 54108389 + Missense_Mutation SNP T T A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr12:54108389T>A uc001sef.2 - 11 1619 c.1475A>T c.(1474-1476)GAG>GTG p.E492V CALCOCO1_uc001see.2_5'UTR|CALCOCO1_uc010som.1_Missense_Mutation_p.E407V|CALCOCO1_uc010son.1_Missense_Mutation_p.E369V|CALCOCO1_uc001seh.2_Missense_Mutation_p.E492V|CALCOCO1_uc009znd.2_Missense_Mutation_p.E492V|CALCOCO1_uc001seg.2_Missense_Mutation_p.E317V|CALCOCO1_uc010soo.1_Missense_Mutation_p.E485V NM_020898 NP_065949 Q9P1Z2 CACO1_HUMAN coiled-coil transcriptional coactivator isoform 492 Potential. steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding ovary(1) 1 CACCTGTTTCTCCTCCTGTAA 0.527000 KIAA0748 9840 broad.mit.edu 37 12 55356615 55356615 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr12:55356615G>A uc001sgn.3 - 9 1177 c.1067C>T c.(1066-1068)TCT>TTT p.S356F KIAA0748_uc001sgl.3_Missense_Mutation_p.S218F|KIAA0748_uc001sgm.3_Missense_Mutation_p.S103F|KIAA0748_uc010spb.1_Missense_Mutation_p.S103F|KIAA0748_uc010spc.1_Missense_Mutation_p.S218F|KIAA0748_uc010spd.1_Missense_Mutation_p.S356F|KIAA0748_uc001sgo.3_RNA NM_001098815 NP_001092285 A2RU30 K0748_HUMAN hypothetical protein LOC9840 356 ovary(1)|central_nervous_system(1) 2 TGGATAGGGAGAAGTGGGCAA 0.517000 IKZF4 64375 broad.mit.edu 37 12 56421645 56421645 + Missense_Mutation SNP C C G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr12:56421645C>G uc001sjb.1 + 6 788 c.629C>G c.(628-630)TCT>TGT p.S210C IKZF4_uc010sqa.1_Missense_Mutation_p.S163C|IKZF4_uc001sjc.1_Missense_Mutation_p.S210C|IKZF4_uc001sjd.1_Missense_Mutation_p.S108C|IKZF4_uc009zoi.1_Missense_Mutation_p.S165C|IKZF4_uc001sje.1_Missense_Mutation_p.S169C NM_022465 NP_071910 Q9H2S9 IKZF4_HUMAN zinc finger protein, subfamily 1A, 4 210 negative regulation of transcription, DNA-dependent nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123) AAGCTGCACTCTGGGGAGAAG 0.562000 TRHDE 29953 broad.mit.edu 37 12 73056901 73056901 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr12:73056901G>A uc001sxa.2 + 19 3031 c.3001G>A c.(3001-3003)GAA>AAA p.E1001K NM_013381 NP_037513 Q9UKU6 TRHDE_HUMAN thyrotropin-releasing hormone degrading enzyme 1001 Extracellular (Potential). cell-cell signaling|proteolysis|signal transduction integral to plasma membrane aminopeptidase activity|metallopeptidase activity|zinc ion binding ovary(2)|skin(1) 3 GGAAACTGTCGAAGCCAATGT 0.373000 OSBPL8 114882 broad.mit.edu 37 12 76784288 76784288 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr12:76784288C>T uc001sye.1 - 11 1559 c.1079G>A c.(1078-1080)AGA>AAA p.R360K OSBPL8_uc001syf.1_Missense_Mutation_p.R318K|OSBPL8_uc001syg.1_Missense_Mutation_p.R318K|OSBPL8_uc001syh.1_Missense_Mutation_p.R335K NM_020841 NP_065892 Q9BZF1 OSBL8_HUMAN oxysterol-binding protein-like protein 8 isoform 360 lipid transport lipid binding ovary(1) 1 GTCATCTTGTCTTTCTGATGT 0.388000 NAV3 89795 broad.mit.edu 37 12 78444768 78444768 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr12:78444768G>A uc001syp.2 + 11 2530 c.2357G>A c.(2356-2358)CGT>CAT p.R786H NAV3_uc001syo.2_Missense_Mutation_p.R786H|NAV3_uc010sub.1_Missense_Mutation_p.R286H NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 786 nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 ACGCCTCTCCGTCGAGCTGCT 0.557000 HNSCC(70;0.22) NAV3 89795 broad.mit.edu 37 12 78573437 78573437 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr12:78573437T>G uc001syp.2 + 29 5665 c.5492T>G c.(5491-5493)ATC>AGC p.I1831S NAV3_uc001syo.2_Missense_Mutation_p.I1809S|NAV3_uc010sub.1_Missense_Mutation_p.I1288S|NAV3_uc009zsf.2_Missense_Mutation_p.I640S NM_014903 NP_055718 Q8IVL0 NAV3_HUMAN neuron navigator 3 1831 Potential. nuclear outer membrane ATP binding|nucleoside-triphosphatase activity large_intestine(6)|ovary(5)|lung(2)|breast(1)|skin(1)|kidney(1)|pancreas(1) 17 CTTGATCAGATCCGGGAAGCC 0.433000 HNSCC(70;0.22) PPFIA2 8499 broad.mit.edu 37 12 81719631 81719631 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr12:81719631T>G uc001szo.1 - 22 2728 c.2567A>C c.(2566-2568)GAA>GCA p.E856A PPFIA2_uc010sue.1_Intron|PPFIA2_uc010sug.1_RNA|PPFIA2_uc010suh.1_RNA|PPFIA2_uc010sui.1_RNA|PPFIA2_uc010suj.1_RNA|PPFIA2_uc009zsi.1_RNA|PPFIA2_uc010suf.1_RNA|PPFIA2_uc009zsh.2_RNA NM_003625 NP_003616 B7Z663 B7Z663_HUMAN PTPRF interacting protein alpha 2 782 ovary(3)|lung(2)|pancreas(1) 6 AGCTGCAGCTTCAGTCTCCAT 0.423000 FGD6 55785 broad.mit.edu 37 12 95566467 95566467 + Missense_Mutation SNP G G C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr12:95566467G>C uc001tdp.3 - 3 2719 c.2495C>G c.(2494-2496)TCT>TGT p.S832C FGD6_uc009zsx.2_5'UTR NM_018351 NP_060821 Q6ZV73 FGD6_HUMAN FYVE, RhoGEF and PH domain containing 6 832 S -> P (in Ref. 3; CAD98096). 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 ovary(2)|breast(1) 3 CTCCTCATCAGAGGGAAGGTC 0.433000 SCYL2 55681 broad.mit.edu 37 12 100685289 100685289 + Silent SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr12:100685289A>C uc001thn.2 + 3 236 c.186A>C c.(184-186)GCA>GCC p.A62A SCYL2_uc009ztw.1_5'UTR|SCYL2_uc001thm.1_Silent_p.A62A NM_017988 NP_060458 Q6P3W7 SCYL2_HUMAN SCY1-like 2 protein 62 Protein kinase. endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm ATP binding|protein kinase activity|receptor binding lung(3)|ovary(2)|skin(1) 6 AGGAAGTGGCAGTTTTTGTCT 0.279000 WSCD2 9671 broad.mit.edu 37 12 108634185 108634185 + Silent SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr12:108634185C>T uc001tms.2 + 8 1953 c.1209C>T c.(1207-1209)AGC>AGT p.S403S WSCD2_uc001tmt.2_Silent_p.S403S|WSCD2_uc001tmu.2_Silent_p.S151S NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 403 integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 CGCACGAAAGCGGCCAGAAAG 0.607000 NAA25 80018 broad.mit.edu 37 12 112471065 112471065 + Missense_Mutation SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr12:112471065A>G uc001ttm.2 - 23 2788 c.2768T>C c.(2767-2769)CTT>CCT p.L923P NAA25_uc001ttn.3_RNA NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 923 cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 TTCTAAAATAAGTTCTTCAAG 0.373000 DNAH10 196385 broad.mit.edu 37 12 124414973 124414973 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr12:124414973G>A uc001uft.3 + 72 12308 c.12283G>A c.(12283-12285)GAC>AAC p.D4095N DNAH10_uc001ufu.3_Missense_Mutation_p.D8N NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4095 TPR 5. microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) ACGGGCCATCGACAGCTTTGA 0.557000 SACS 26278 broad.mit.edu 37 13 23908520 23908520 + Silent SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr13:23908520A>C uc001uon.2 - 10 10084 c.9495T>G c.(9493-9495)ACT>ACG p.T3165T SACS_uc001uoo.2_Silent_p.T3018T|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron NM_014363 NP_055178 Q9NZJ4 SACS_HUMAN sacsin 3165 cell death|negative regulation of inclusion body assembly|protein folding axon|cell body fiber|dendrite|mitochondrion|nucleus ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding ovary(7)|skin(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 12 all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128) all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189) TTGCATCAAAAGTTTGCAAAA 0.318000 RNF17 56163 broad.mit.edu 37 13 25399903 25399903 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr13:25399903A>C uc001upr.2 + 16 2279 c.2238A>C c.(2236-2238)AAA>AAC p.K746N RNF17_uc010tdd.1_Missense_Mutation_p.K605N|RNF17_uc010aab.2_RNA|RNF17_uc010tde.1_Missense_Mutation_p.K746N|RNF17_uc001ups.2_Missense_Mutation_p.K685N NM_031277 NP_112567 Q9BXT8 RNF17_HUMAN ring finger protein 17 746 Tudor 1. multicellular organismal development cytoplasm|nucleus hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding ovary(1)|skin(1) 2 Lung SC(185;0.0225)|Breast(139;0.077) all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524) ACCGAGCAAAAGTTATCGGTA 0.368000 SPG20 23111 broad.mit.edu 37 13 36888405 36888405 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr13:36888405T>G uc001uvn.2 - 7 1712 c.1442A>C c.(1441-1443)AAG>ACG p.K481T SPG20_uc010ten.1_Missense_Mutation_p.K471T|SPG20_uc001uvm.2_Missense_Mutation_p.K481T|SPG20_uc001uvo.2_Missense_Mutation_p.K481T|SPG20_uc001uvq.2_Missense_Mutation_p.K481T NM_001142296 NP_001135768 Q8N0X7 SPG20_HUMAN spartin 481 cell death cytoplasm ubiquitin protein ligase binding 0 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169) all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026) TGTAGCTTGCTTCGCTATATA 0.393000 SUCLA2 8803 broad.mit.edu 37 13 48562750 48562750 + Missense_Mutation SNP G G C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr13:48562750G>C uc001vbs.2 - 4 517 c.460C>G c.(460-462)CAA>GAA p.Q154E SUCLA2_uc010tgb.1_Missense_Mutation_p.Q94E|SUCLA2_uc010tgc.1_Missense_Mutation_p.Q20E|SUCLA2_uc010tgd.1_Missense_Mutation_p.Q94E|SUCLA2_uc001vbt.1_RNA|SUCLA2_uc001vbu.1_Missense_Mutation_p.Q154E NM_003850 NP_003841 Q9P2R7 SUCB1_HUMAN succinate-CoA ligase, ADP-forming, beta subunit 154 ATP-grasp. succinyl-CoA pathway|tricarboxylic acid cycle mitochondrial matrix ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity central_nervous_system(1) 1 all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236) GBM - Glioblastoma multiforme(144;2.1e-06) Succinic acid(DB00139) ACCAATACTTGATTGCATATT 0.353000 GPC5 2262 broad.mit.edu 37 13 92560224 92560224 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr13:92560224A>C uc010tif.1 + 6 1680 c.1314A>C c.(1312-1314)AAA>AAC p.K438N NM_004466 NP_004457 P78333 GPC5_HUMAN glypican 5 precursor 438 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding ovary(2)|skin(2)|upper_aerodigestive_tract(1) 5 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) ATGGAATCAAAGCCCAGTCTG 0.393000 MYO16 23026 broad.mit.edu 37 13 109859011 109859011 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr13:109859011T>G uc001vqt.1 + 35 5530 c.5404T>G c.(5404-5406)TTG>GTG p.L1802V MYO16_uc010agk.1_Missense_Mutation_p.L1824V NM_015011 NP_055826 Q9Y6X6 MYO16_HUMAN myosin heavy chain Myr 8 1802 cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane actin filament binding|ATP binding|motor activity ovary(6)|large_intestine(1)|kidney(1)|breast(1)|central_nervous_system(1) 10 all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104) BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201) GCAGGAACTCTTGGACTGGAG 0.552000 CHD8 57680 broad.mit.edu 37 14 21859686 21859686 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr14:21859686C>T uc001was.1 - 36 6258 c.6164G>A c.(6163-6165)CGG>CAG p.R2055Q CHD8_uc001war.1_Missense_Mutation_p.R1951Q NM_020920 NP_065971 Q9HCK8 CHD8_HUMAN chromodomain helicase DNA binding protein 8 2334 ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent MLL1 complex ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|breast(1)|skin(1) 10 all_cancers(95;0.00121) Epithelial(56;2.55e-06)|all cancers(55;1.73e-05) GBM - Glioblastoma multiforme(265;0.00424) CAGTTCAGCCCGGCGAGGGGC 0.527000 SLC35F4 341880 broad.mit.edu 37 14 58063439 58063439 + Silent SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr14:58063439T>G uc001xdb.1 - 1 177 c.177A>C c.(175-177)ACA>ACC p.T59T SLC35F4_uc010aoz.1_RNA|SLC35F4_uc010apa.1_Intron NM_001080455 NP_001073924 solute carrier family 35, member F4 ovary(2) 2 AGCGAGCAAGTGTTGAATGTA 0.378000 DACT1 51339 broad.mit.edu 37 14 59112838 59112838 + Missense_Mutation SNP G G C rs145184753 TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr14:59112838G>C uc001xdw.2 + 4 1661 c.1497G>C c.(1495-1497)GAG>GAC p.E499D DACT1_uc010trv.1_Missense_Mutation_p.E218D|DACT1_uc001xdx.2_Missense_Mutation_p.E462D|DACT1_uc010trw.1_Missense_Mutation_p.E218D NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 499 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 CGCCGCAGGAGAACAAAGTTG 0.607000 KCNH5 27133 broad.mit.edu 37 14 63416924 63416924 + Silent SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr14:63416924G>A uc001xfx.2 - 7 1347 c.1296C>T c.(1294-1296)ACC>ACT p.T432T KCNH5_uc001xfy.2_Silent_p.T432T|KCNH5_uc001xfz.1_Silent_p.T374T|KCNH5_uc001xga.2_Silent_p.T374T NM_139318 NP_647479 Q8NCM2 KCNH5_HUMAN potassium voltage-gated channel, subfamily H, 432 Selectivity filter (By similarity). regulation of transcription, DNA-dependent integral to membrane calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity ovary(4)|skin(4)|central_nervous_system(1) 9 OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168) CAAATCCTATGGTTGTAAGGC 0.418000 KCNK10 54207 broad.mit.edu 37 14 88707082 88707082 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr14:88707082G>A uc001xwo.2 - 3 927 c.470C>T c.(469-471)GCC>GTC p.A157V KCNK10_uc001xwm.2_Missense_Mutation_p.A162V|KCNK10_uc001xwn.2_Missense_Mutation_p.A162V NM_021161 NP_066984 P57789 KCNKA_HUMAN potassium channel, subfamily K, member 10 157 signal transduction integral to membrane potassium channel activity|voltage-gated ion channel activity ovary(2)|skin(2)|pancreas(1) 5 AAAGAAAAAGGCACTGCCGAG 0.478000 ATG2B 55102 broad.mit.edu 37 14 96777946 96777946 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr14:96777946C>T uc001yfi.2 - 27 4288 c.3923G>A c.(3922-3924)CGT>CAT p.R1308H NM_018036 NP_060506 Q96BY7 ATG2B_HUMAN ATG2 autophagy related 2 homolog B 1308 ovary(1)|kidney(1)|skin(1) 3 all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155) Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244) ATCCATCACACGAACATAATC 0.313000 RASGRP1 10125 broad.mit.edu 37 15 38805039 38805039 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr15:38805039C>T uc001zke.3 - 7 972 c.794G>A c.(793-795)CGC>CAC p.R265H RASGRP1_uc010bbe.2_RNA|RASGRP1_uc010bbf.2_Missense_Mutation_p.R127H|RASGRP1_uc010bbg.2_Missense_Mutation_p.R127H|RASGRP1_uc001zkd.3_Missense_Mutation_p.R265H NM_005739 NP_005730 O95267 GRP1_HUMAN RAS guanyl releasing protein 1 isoform a 265 Ras-GEF. cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding large_intestine(1)|ovary(1) 2 all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574) GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248) CGGCGTGGGGCGGCTGAGAAC 0.502000 CATSPER2 117155 broad.mit.edu 37 15 43924471 43924471 + Missense_Mutation SNP A A T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr15:43924471A>T uc001zsh.2 - 12 1702 c.1487T>A c.(1486-1488)CTC>CAC p.L496H STRC_uc010udz.1_RNA|CATSPER2_uc010bdm.2_RNA|CATSPER2_uc001zsi.2_Missense_Mutation_p.L494H|CATSPER2_uc001zsj.2_Missense_Mutation_p.L494H NM_172095 NP_742093 Q96P56 CTSR2_HUMAN sperm-associated cation channel 2 isoform 2 496 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|spermatogenesis cilium|flagellar membrane|integral to membrane calcium channel activity|protein binding|voltage-gated ion channel activity ovary(1) 1 all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.56e-07) ATATCGGAAGAGTGAGTCTCT 0.483000 SEMA6D 80031 broad.mit.edu 37 15 48062707 48062707 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr15:48062707A>C uc010bek.2 + 19 2307 c.1947A>C c.(1945-1947)GAA>GAC p.E649D SEMA6D_uc001zvw.2_Missense_Mutation_p.E587D|SEMA6D_uc001zvy.2_Missense_Mutation_p.E649D|SEMA6D_uc001zvz.2_Missense_Mutation_p.E593D|SEMA6D_uc001zwa.2_Missense_Mutation_p.K586T|SEMA6D_uc001zwb.2_Missense_Mutation_p.E587D|SEMA6D_uc001zwc.2_Missense_Mutation_p.E574D NM_153618 NP_705871 Q8NFY4 SEM6D_HUMAN semaphorin 6D isoform 4 precursor 649 Extracellular (Potential). axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity skin(3)|breast(1) 4 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) TACGATGGGAAGTCCAGTCTG 0.438000 ADAM10 102 broad.mit.edu 37 15 58913755 58913755 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr15:58913755T>C uc002afd.1 - 11 1870 c.1426A>G c.(1426-1428)AGT>GGT p.S476G ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Missense_Mutation_p.S175G|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Missense_Mutation_p.S13G NM_001110 NP_001101 O14672 ADA10_HUMAN ADAM metallopeptidase domain 10 precursor 476 Extracellular (Potential).|Disintegrin. cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding skin(2) 2 GBM - Glioblastoma multiforme(80;0.202) CACTGGTCACTATAGCCACAA 0.403000 FOXB1 27023 broad.mit.edu 37 15 60297500 60297500 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr15:60297500A>C uc002agj.1 + 2 817 c.338A>C c.(337-339)AAG>ACG p.K113T FOXB1_uc010bgh.1_Intron NM_012182 NP_036314 Q99853 FOXB1_HUMAN forkhead box B1 113 axon target recognition|cell migration in diencephalon|epithelial cell differentiation involved in mammary gland alveolus development|floor plate development|hypothalamus cell migration|inferior colliculus development|lactation|mammillothalamic axonal tract development|negative regulation of neuron apoptosis|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|telencephalon cell migration|visual learning transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding ovary(1)|central_nervous_system(1) 2 AAGGTGCTTAAGTCCGACCAC 0.697000 NOX5 79400 broad.mit.edu 37 15 69327747 69327747 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr15:69327747A>C uc002ars.1 + 6 929 c.909A>C c.(907-909)CAA>CAC p.Q303H NOX5_uc002arp.1_Missense_Mutation_p.Q285H|NOX5_uc002arq.1_Missense_Mutation_p.Q257H|NOX5_uc010bid.1_Missense_Mutation_p.Q268H|NOX5_uc002arr.1_Missense_Mutation_p.Q275H|NOX5_uc010bie.1_Missense_Mutation_p.Q103H|NOX5_uc010bif.1_RNA NM_024505 NP_078781 Q96PH1 NOX5_HUMAN NADPH oxidase, EF-hand calcium binding domain 5 303 Ferric oxidoreductase.|Cytoplasmic (Potential). angiogenesis|angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation endoplasmic reticulum|endoplasmic reticulum|integral to membrane calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity breast(1)|pancreas(1) 2 GGCTGGCTCAAGTCCTACCAC 0.617000 CCDC33 80125 broad.mit.edu 37 15 74572359 74572359 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr15:74572359T>C uc002axo.2 + 8 1209 c.815T>C c.(814-816)TTC>TCC p.F272S CCDC33_uc002axp.2_Missense_Mutation_p.F94S NM_025055 NP_079331 Q8N5R6 CCD33_HUMAN coiled-coil domain containing 33 isoform 1 475 protein binding ovary(3)|skin(2) 5 TCCTTCCTCTTCCAAGGCCGA 0.612000 WHAMM 123720 broad.mit.edu 37 15 83499800 83499800 + Silent SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr15:83499800A>G uc002bje.2 + 9 2597 c.2091A>G c.(2089-2091)CCA>CCG p.P697P NM_001080435 NP_001073904 Q8TF30 WHAMM_HUMAN WAS protein homolog associated with actin, golgi 697 cytoplasmic vesicle membrane|ER-Golgi intermediate compartment|Golgi apparatus actin binding 0 CTGAGCGACCACGTGACTCCT 0.498000 ACAN 176 broad.mit.edu 37 15 89391183 89391183 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr15:89391183A>C uc010upo.1 + 9 2020 c.1646A>C c.(1645-1647)AAG>ACG p.K549T ACAN_uc002bmx.2_Missense_Mutation_p.K549T|ACAN_uc010upp.1_Missense_Mutation_p.K549T|ACAN_uc002bna.2_RNA NM_013227 NP_037359 E7EX88 E7EX88_HUMAN aggrecan isoform 2 precursor 549 cell adhesion hyaluronic acid binding|sugar binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.0392)|all_lung(78;0.077) BRCA - Breast invasive adenocarcinoma(143;0.146) GTGGGTGACAAGGACAGCAGC 0.572000 ADAMTS17 170691 broad.mit.edu 37 15 100649236 100649236 + Silent SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr15:100649236G>A uc002bvv.1 - 14 2053 c.1974C>T c.(1972-1974)TGC>TGT p.C658C ADAMTS17_uc002bvx.1_Silent_p.C415C NM_139057 NP_620688 Q8TE56 ATS17_HUMAN ADAM metallopeptidase with thrombospondin type 1 658 Cys-rich. proteolysis intracellular|proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(2)|central_nervous_system(1) 3 Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571) OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161) COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219) CGTAGGGCCCGCAGGGTGTAC 0.617000 TSC2 7249 broad.mit.edu 37 16 2106669 2106669 + Missense_Mutation SNP G G A rs142919353 TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr16:2106669G>A uc002con.2 + 8 779 c.673G>A c.(673-675)GTG>ATG p.V225M TSC2_uc010bsd.2_Missense_Mutation_p.V225M|TSC2_uc002coo.2_Missense_Mutation_p.V225M|TSC2_uc010uvv.1_Missense_Mutation_p.V188M|TSC2_uc010uvw.1_Missense_Mutation_p.V176M|TSC2_uc002cop.2_Missense_Mutation_p.V25M NM_000548 NP_000539 P49815 TSC2_HUMAN tuberous sclerosis 2 isoform 1 225 Required for interaction with TSC1. cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex GTPase activator activity|protein homodimerization activity central_nervous_system(4)|lung(3)|ovary(2)|pancreas(1) 10 Hepatocellular(780;0.0202) GCTGGACGCCGTGGTCTGCTA 0.637000 D|Mis|N|F|S hamartoma|renal cell Tuberous_Sclerosis OR2C1 4993 broad.mit.edu 37 16 3406818 3406818 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr16:3406818G>A uc002cuw.1 + 1 930 c.878G>A c.(877-879)CGG>CAG p.R293Q NM_012368 NP_036500 O95371 OR2C1_HUMAN olfactory receptor, family 2, subfamily C, 293 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 TACACGCTGCGGAACATGGAA 0.512000 C16orf62 57020 broad.mit.edu 37 16 19603148 19603148 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr16:19603148T>G uc002dgn.1 + 8 688 c.676T>G c.(676-678)TTC>GTC p.F226V C16orf62_uc002dgo.1_Missense_Mutation_p.F226V|C16orf62_uc002dgp.1_Intron|C16orf62_uc010vas.1_Missense_Mutation_p.F100V|C16orf62_uc002dgm.1_Missense_Mutation_p.F226V NM_020314 NP_064710 Q7Z3J2 CP062_HUMAN hypothetical protein LOC57020 226 integral to membrane ovary(1) 1 TGTTATTCAGTTCTACCCAAG 0.378000 GPRC5B 51704 broad.mit.edu 37 16 19883494 19883494 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr16:19883494T>C uc002dgt.2 - 2 782 c.674A>G c.(673-675)AAG>AGG p.K225R GPRC5B_uc010vav.1_Missense_Mutation_p.K251R NM_016235 NP_057319 Q9NZH0 GPC5B_HUMAN G protein-coupled receptor, family C, group 5, 225 Cytoplasmic (Potential). lung(1)|breast(1)|skin(1) 3 CCTCTTGAACTTGCCGCACAG 0.582000 DCTN5 84516 broad.mit.edu 37 16 23678440 23678440 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr16:23678440A>C uc002dly.1 + 6 581 c.524A>C c.(523-525)AAG>ACG p.K175T NM_032486 NP_115875 Q9BTE1 DCTN5_HUMAN dynactin 5 175 centrosome transferase activity upper_aerodigestive_tract(1) 1 GBM - Glioblastoma multiforme(48;0.0156) TACTACCAGAAGTTTTTGCCC 0.522000 SEZ6L2 26470 broad.mit.edu 37 16 29897033 29897033 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr16:29897033C>T uc002duq.3 - 8 1486 c.1246G>A c.(1246-1248)GTG>ATG p.V416M uc002dtf.2_Intron|BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.3_Missense_Mutation_p.V346M|SEZ6L2_uc002dur.3_Missense_Mutation_p.V346M|SEZ6L2_uc002dus.3_Missense_Mutation_p.V302M|SEZ6L2_uc010vec.1_Missense_Mutation_p.V416M|SEZ6L2_uc010ved.1_Missense_Mutation_p.V372M NM_201575 NP_963869 Q6UXD5 SE6L2_HUMAN seizure related 6 homolog (mouse)-like 2 isoform 416 CUB 2.|Extracellular (Potential). endoplasmic reticulum membrane|integral to membrane|plasma membrane ovary(1)|skin(1) 2 TCATAGATCACGGGGGATAGG 0.612000 GABARAPL2 11345 broad.mit.edu 37 16 75602021 75602021 + Silent SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr16:75602021G>A uc002fen.2 + 3 313 c.177G>A c.(175-177)CAG>CAA p.Q59Q GABARAPL2_uc010cgy.2_Intron NM_007285 NP_009216 P60520 GBRL2_HUMAN GABA(A) receptor-associated protein-like 2 59 Interaction with GABRG2 (Potential). autophagy|intra-Golgi vesicle-mediated transport|positive regulation of ATPase activity|protein transport autophagic vacuole membrane|cytosol|Golgi membrane|membrane fraction ATPase binding|beta-tubulin binding|GABA receptor binding|microtubule binding|SNARE binding ovary(1) 1 CTGTGGCTCAGTTCATGTGGA 0.453000 TP53 7157 broad.mit.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T rs28934576 by1000genomes TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr17:7577120C>T uc002gim.2 - 8 1012 c.818G>A c.(817-819)CGT>CAT p.R273H TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273H(469)|p.R273C(394)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCACAAACACGCACCTCAAA 0.542000 R273H(NCIH1793_LUNG)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PANC1_PANCREAS)|R273H(NCIH508_LARGE_INTESTINE)|R273H(NCIH1975_LUNG)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(NCIH2405_LUNG)|R273H(HEC59_ENDOMETRIUM)|R273H(NCIH1155_LUNG)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(EN_ENDOMETRIUM)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(MDAMB468_BREAST)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW620_LARGE_INTESTINE)|R273H(SUIT2_PANCREAS)|R273H(SW480_LARGE_INTESTINE)|R273H(SKMEL30_SKIN)|R273H(OC314_OVARY)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE) 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) DNAH2 146754 broad.mit.edu 37 17 7684068 7684068 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr17:7684068C>T uc002giu.1 + 37 5985 c.5971C>T c.(5971-5973)CGC>TGC p.R1991C NM_020877 NP_065928 Q9P225 DYH2_HUMAN dynein heavy chain domain 3 1991 ciliary or flagellar motility|microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(6)|skin(6)|central_nervous_system(1) 13 all_cancers(10;4.66e-07)|Prostate(122;0.081) TGGCAAGAAGCGCCGCCTACA 0.557000 MYH2 4620 broad.mit.edu 37 17 10428647 10428647 + Missense_Mutation SNP G G A rs138796340 TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr17:10428647G>A uc010coi.2 - 33 4684 c.4556C>T c.(4555-4557)ACG>ATG p.T1519M uc002gml.1_Intron|MYH2_uc002gmp.3_Missense_Mutation_p.T1519M|MYH2_uc010coj.2_Intron NM_001100112 NP_001093582 Q9UKX2 MYH2_HUMAN myosin heavy chain IIa 1519 Potential. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle ovary(5)|pancreas(4)|skin(3)|lung(1)|kidney(1) 14 AATCTGTTCCGTGAGGTCAGA 0.383000 EFCAB5 374786 broad.mit.edu 37 17 28417521 28417521 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr17:28417521C>T uc002het.2 + 20 3958 c.3766C>T c.(3766-3768)CGT>TGT p.R1256C EFCAB5_uc010cse.2_Missense_Mutation_p.R1011C|EFCAB5_uc010csf.2_Intron NM_198529 NP_940931 A4FU69 EFCB5_HUMAN EF-hand calcium binding domain 5 isoform a 1256 calcium ion binding ovary(1)|skin(1) 2 AGTTCCACTTCGTGAGAGAAC 0.393000 CCL8 6355 broad.mit.edu 37 17 32647919 32647919 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr17:32647919A>C uc002hib.2 + 3 748 c.293A>C c.(292-294)AAG>ACG p.K98T NM_005623 NP_005614 P80075 CCL8_HUMAN small inducible cytokine A8 precursor 98 calcium ion transport|cell-cell signaling|chemotaxis|exocytosis|immune response|inflammatory response|response to virus extracellular space chemokine activity|heparin binding|signal transducer activity 0 Ovarian(249;0.0443)|Breast(31;0.151) CAAAATCTGAAGCCATGAGCC 0.453000 SOCS7 30837 broad.mit.edu 37 17 36508871 36508871 + Silent SNP G G T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr17:36508871G>T uc002hqa.2 + 1 867 c.744G>T c.(742-744)CTG>CTT p.L248L SOCS7_uc010cvl.2_Silent_p.L248L|SOCS7_uc002hqb.2_RNA NM_014598 NP_055413 O14512 SOCS7_HUMAN suppressor of cytokine signaling 7 248 Mediates interaction with SORBS3. intracellular signal transduction|negative regulation of signal transduction|regulation of growth cytoplasm|nucleus|plasma membrane protein binding|SH3 domain binding skin(1) 1 Breast(7;3.47e-17) CTGCGAGCCTGACAGACATGG 0.647000 ABCA8 10351 broad.mit.edu 37 17 66898948 66898948 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr17:66898948A>C uc002jhp.2 - 19 2729 c.2550T>G c.(2548-2550)AGT>AGG p.S850R ABCA8_uc002jhq.2_Missense_Mutation_p.S890R|ABCA8_uc010wqq.1_Missense_Mutation_p.S890R|ABCA8_uc010wqr.1_Missense_Mutation_p.S829R|ABCA8_uc002jhr.2_Missense_Mutation_p.S890R NM_007168 NP_009099 O94911 ABCA8_HUMAN ATP-binding cassette, sub-family A member 8 850 integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(2)|skin(1) 3 Breast(10;4.56e-13) CCCAGGTGTAACTGTTTTGAT 0.373000 KIAA0802 23255 broad.mit.edu 37 18 8783803 8783803 + Silent SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr18:8783803G>A uc002knr.2 + 6 835 c.693G>A c.(691-693)GAG>GAA p.E231E KIAA0802_uc002knq.2_Silent_p.E231E|KIAA0802_uc010dkw.1_Silent_p.E69E NM_015210 NP_056025 Q9Y4B5 CC165_HUMAN hypothetical protein LOC23255 582 Potential. 0 TGGAGGTGGAGAACCGTGGCC 0.672000 ZNF521 25925 broad.mit.edu 37 18 22806982 22806982 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr18:22806982C>T uc002kvk.2 - 4 1147 c.900G>A c.(898-900)ATG>ATA p.M300I ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.M300I|ZNF521_uc002kvl.2_Missense_Mutation_p.M80I NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 300 C2H2-type 7. cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein domain specific binding|zinc ion binding ovary(4)|large_intestine(2)|lung(1) 7 all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991) GCACCTGCTCCATGTGGTTCA 0.552000 T PAX5 ALL SLC39A6 25800 broad.mit.edu 37 18 33706542 33706542 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr18:33706542T>G uc010dmy.2 - 2 719 c.429A>C c.(427-429)AAA>AAC p.K143N SLC39A6_uc002kzj.2_Intron NM_012319 NP_036451 Q13433 S39A6_HUMAN solute carrier family 39 (zinc transporter), 143 Extracellular (Potential). integral to membrane|lamellipodium membrane zinc ion transmembrane transporter activity ovary(1)|pancreas(1) 2 GGCAAAGAGCTTTTCGCTTAT 0.303000 MC4R 4160 broad.mit.edu 37 18 58039273 58039273 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr18:58039273T>C uc002lie.1 - 1 729 c.310A>G c.(310-312)ATC>GTC p.I104V NM_005912 NP_005903 P32245 MC4R_HUMAN melanocortin 4 receptor 104 Helical; Name=2; (Potential). feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process integral to membrane|plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding lung(1) 1 Colorectal(73;0.0946) AATAGGGTGATGACAATGGTT 0.423000 CDH7 1005 broad.mit.edu 37 18 63481784 63481784 + Missense_Mutation SNP G G C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr18:63481784G>C uc002ljz.2 + 4 894 c.569G>C c.(568-570)AGA>ACA p.R190T CDH7_uc002lka.2_Missense_Mutation_p.R190T|CDH7_uc002lkb.2_Missense_Mutation_p.R190T NM_033646 NP_387450 Q9ULB5 CADH7_HUMAN cadherin 7, type 2 preproprotein 190 Extracellular (Potential).|Cadherin 2. adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|pancreas(1)|skin(1) 4 Esophageal squamous(42;0.129) AACAGTGCCAGAGTGGTCTAC 0.428000 MUC16 94025 broad.mit.edu 37 19 9058990 9058990 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr19:9058990T>G uc002mkp.2 - 3 28660 c.28456A>C c.(28456-28458)ACC>CCC p.T9486P NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 9488 Ser-rich.|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 GCTGAAGTGGTCTCAGGTTCC 0.478000 ZNF317 57693 broad.mit.edu 37 19 9271459 9271459 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr19:9271459C>T uc002mku.2 + 7 1413 c.1138C>T c.(1138-1140)CAC>TAC p.H380Y ZNF317_uc002mkv.2_Missense_Mutation_p.H239Y|ZNF317_uc002mkw.2_Missense_Mutation_p.H348Y|ZNF317_uc002mkx.2_Missense_Mutation_p.H295Y|ZNF317_uc002mky.2_Missense_Mutation_p.H263Y NM_020933 NP_065984 Q96PQ6 ZN317_HUMAN zinc finger protein 317 380 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 CTTTAATTTGCACAAGAAGAA 0.522000 MAST1 22983 broad.mit.edu 37 19 12969369 12969369 + Silent SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr19:12969369C>T uc002mvm.2 + 12 1310 c.1182C>T c.(1180-1182)CGC>CGT p.R394R MAST1_uc002mvk.2_Silent_p.R390R NM_014975 NP_055790 Q9Y2H9 MAST1_HUMAN microtubule associated serine/threonine kinase 394 Protein kinase. cytoskeleton organization|intracellular protein kinase cascade cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|protein serine/threonine kinase activity ovary(3)|lung(2)|large_intestine(1)|skin(1) 7 TGCGGCACCGCGACACGCGGC 0.647000 CALR 811 broad.mit.edu 37 19 13051267 13051267 + Splice_Site SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr19:13051267G>A uc002mvu.2 + 5 782 c.702_splice c.e5+1 p.E234_splice NM_004343 NP_004334 P27797 CALR_HUMAN calreticulin precursor cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding ovary(1) 1 Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031) CAAGCCTGAGGTTGGTGTTTG 0.552000 OR7A17 26333 broad.mit.edu 37 19 14991857 14991857 + Missense_Mutation SNP A A T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr19:14991857A>T uc010xob.1 - 1 311 c.311T>A c.(310-312)TTT>TAT p.F104Y NM_030901 NP_112163 O14581 OR7AH_HUMAN olfactory receptor, family 7, subfamily A, 104 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 Ovarian(108;0.203) AAAAAGTACAAAAAAGCACAT 0.463000 TM6SF2 53345 broad.mit.edu 37 19 19381881 19381881 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr19:19381881G>A uc002nmd.1 - 2 199 c.149C>T c.(148-150)GCG>GTG p.A50V HAPLN4_uc002nmc.2_5'UTR NM_001001524 NP_001001524 Q9BZW4 TM6S2_HUMAN transmembrane 6 superfamily member 2 50 Helical; (Potential). integral to membrane 0 Epithelial(12;0.0151) GCTGTAGACCGCCACGAAAAG 0.607000 ZNF43 7594 broad.mit.edu 37 19 21992308 21992308 + Missense_Mutation SNP T T A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr19:21992308T>A uc002nqj.2 - 4 661 c.531A>T c.(529-531)AAA>AAT p.K177N ZNF43_uc010ecv.2_Missense_Mutation_p.K171N|ZNF43_uc002nql.2_Missense_Mutation_p.K171N|ZNF43_uc002nqm.2_Missense_Mutation_p.K171N|ZNF43_uc002nqk.2_Missense_Mutation_p.K107N NM_003423 NP_003414 P17038 ZNF43_HUMAN zinc finger protein 43 177 C2H2-type 1. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) TGCCACATTCTTTGCATTTGA 0.289000 ZNF99 7652 broad.mit.edu 37 19 22951153 22951153 + Silent SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr19:22951153T>C uc010xrh.1 - 3 243 c.243A>G c.(241-243)AAA>AAG p.K81K NM_001080409 NP_001073878 zinc finger protein 99 ovary(1)|skin(1) 2 Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102) TCCAAGGCTCTTTCCCTTGCT 0.368000 TSHZ3 57616 broad.mit.edu 37 19 31769734 31769734 + Missense_Mutation SNP T T A rs146913156 TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr19:31769734T>A uc002nsy.3 - 2 1030 c.965A>T c.(964-966)AAG>ATG p.K322M NM_020856 NP_065907 Q63HK5 TSH3_HUMAN zinc finger protein 537 322 negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process growth cone|nucleus chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4)|skin(2)|pancreas(1)|lung(1) 8 Esophageal squamous(110;0.226) GGAAGCTTTCTTCCGAGTGGC 0.522000 MLL4 9757 broad.mit.edu 37 19 36218419 36218419 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr19:36218419C>T uc010eei.2 + 17 4198 c.4198C>T c.(4198-4200)CGC>TGC p.R1400C NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1400 chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) AGCGCAGCCCCGCTGGCGAGA 0.667000 EGLN2 112398 broad.mit.edu 37 19 41307126 41307126 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr19:41307126G>A uc010ehd.2 + 8 1650 c.649G>A c.(649-651)GGG>AGG p.G217R EGLN2_uc002opg.3_Missense_Mutation_p.G217R|EGLN2_uc002oph.2_Missense_Mutation_p.G217R|EGLN2_uc002opi.2_Missense_Mutation_p.G217R NM_080732 NP_542770 Q96KS0 EGLN2_HUMAN EGL nine (C.elegans) homolog 2 217 cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia cytoplasm|nucleus ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity ovary(2) 2 LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959) Vitamin C(DB00126) CAAACGGGGTGGGCGCCTGCG 0.687000 PSG2 5670 broad.mit.edu 37 19 43570731 43570731 + Missense_Mutation SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr19:43570731A>G uc002ovr.2 - 5 1079 c.986T>C c.(985-987)CTT>CCT p.L329P PSG10_uc002ouv.1_RNA|PSG6_uc002ovi.2_Intron|PSG6_uc010xwk.1_Intron|PSG2_uc002ovq.3_Missense_Mutation_p.L329P|PSG2_uc010eiq.1_Intron|PSG2_uc002ovs.3_Missense_Mutation_p.L329P|PSG2_uc002ovt.3_Missense_Mutation_p.L329P NM_031246 NP_112536 P11465 PSG2_HUMAN pregnancy specific beta-1-glycoprotein 2 329 cell migration|female pregnancy extracellular region 0 Prostate(69;0.00682) AAGGAGAGGAAGAAGTCCTAT 0.418000 ZNF404 342908 broad.mit.edu 37 19 44377328 44377328 + Missense_Mutation SNP C C A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr19:44377328C>A uc002oxs.3 - 2 1038 c.1029G>T c.(1027-1029)AAG>AAT p.K343N NM_001033719 NP_001028891 Q494X3 ZN404_HUMAN zinc finger protein 404 346 C2H2-type 8. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 Prostate(69;0.0352) TATGAATTCTCTTATGTTTAA 0.393000 ZNF285 26974 broad.mit.edu 37 19 44891483 44891483 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr19:44891483T>G uc002ozd.3 - 4 1011 c.924A>C c.(922-924)AAA>AAC p.K308N ZFP112_uc010xwz.1_Intron|ZNF285_uc010xxa.1_Missense_Mutation_p.K315N NM_152354 NP_689567 Q96NJ3 ZN285_HUMAN zinc finger protein 285 308 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|skin(2) 4 CTGAGGAGACTTTCTGATATC 0.483000 PRKD2 25865 broad.mit.edu 37 19 47192802 47192802 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr19:47192802T>C uc002pfh.2 - 15 2305 c.1963A>G c.(1963-1965)ATC>GTC p.I655V PRKD2_uc002pfd.2_Missense_Mutation_p.I29V|PRKD2_uc010eks.2_Missense_Mutation_p.I58V|PRKD2_uc010ekt.2_5'UTR|PRKD2_uc002pfe.2_Missense_Mutation_p.I175V|PRKD2_uc002pff.2_Missense_Mutation_p.I175V|PRKD2_uc002pfg.2_Missense_Mutation_p.I498V|PRKD2_uc002pfi.2_Missense_Mutation_p.I655V|PRKD2_uc002pfj.2_Missense_Mutation_p.I655V|PRKD2_uc010xye.1_Missense_Mutation_p.I655V|PRKD2_uc002pfk.2_Missense_Mutation_p.I498V NM_001079881 NP_001073350 Q9BZL6 KPCD2_HUMAN protein kinase D2 isoform A 655 Protein kinase. cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein kinase C activity ovary(2)|central_nervous_system(2)|stomach(1)|large_intestine(1)|lung(1) 7 Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353) ACCTGGGTGATGAGGAACTTG 0.607000 FKRP 79147 broad.mit.edu 37 19 47259669 47259669 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr19:47259669C>T uc002pfn.2 + 4 1259 c.962C>T c.(961-963)GCG>GTG p.A321V FKRP_uc002pfp.2_Missense_Mutation_p.A321V NM_024301 NP_077277 Q9H9S5 FKRP_HUMAN fukutin-related protein 321 extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma transferase activity pancreas(1) 1 all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212) OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336) TGCCTGCGCGCGCTGCGCGAG 0.741000 NPAS1 4861 broad.mit.edu 37 19 47542709 47542709 + Silent SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr19:47542709T>C uc002pfw.2 + 8 1045 c.849T>C c.(847-849)CTT>CTC p.L283L NPAS1_uc002pfx.2_Silent_p.L108L|NPAS1_uc002pfy.2_Silent_p.L283L|NPAS1_uc010xyj.1_Silent_p.L107L NM_002517 NP_002508 Q99742 NPAS1_HUMAN neuronal PAS domain protein 1 283 central nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity 0 all_cancers(25;4.31e-08)|all_epithelial(76;2.96e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.102) all cancers(93;6.02e-05)|OV - Ovarian serous cystadenocarcinoma(262;7.35e-05)|Epithelial(262;0.00389)|GBM - Glioblastoma multiforme(486;0.0252) CCCTGGGCCTTGTGGCCCTCG 0.677000 ZNF613 79898 broad.mit.edu 37 19 52448445 52448445 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr19:52448445T>G uc002pxz.1 + 6 1732 c.1309T>G c.(1309-1311)TTC>GTC p.F437V ZNF613_uc002pya.1_Missense_Mutation_p.F401V NM_001031721 NP_001026891 Q6PF04 ZN613_HUMAN zinc finger protein 613 isoform 1 437 C2H2-type 9. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183) TGGGAAAGGCTTCAGCCAGAA 0.438000 LILRA4 23547 broad.mit.edu 37 19 54849465 54849465 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr19:54849465C>T uc002qfj.2 - 4 454 c.397G>A c.(397-399)GTG>ATG p.V133M LILRA4_uc002qfi.2_Missense_Mutation_p.V67M NM_012276 NP_036408 P59901 LIRA4_HUMAN leukocyte immunoglobulin-like receptor subfamily 133 Extracellular (Potential).|Ig-like C2-type 2. integral to membrane receptor activity upper_aerodigestive_tract(1)|central_nervous_system(1) 2 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.0565) CCTGAGGTCACCACAGGGCTT 0.582000 IL11 3589 broad.mit.edu 37 19 55880255 55880255 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr19:55880255G>A uc002qks.1 - 2 198 c.62C>T c.(61-63)GCC>GTC p.A21V IL11_uc010yfx.1_Intron NM_000641 NP_000632 P20809 IL11_HUMAN interleukin 11 precursor 21 B cell differentiation|fat cell differentiation|megakaryocyte differentiation|negative regulation of hormone secretion|platelet activation|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter extracellular space cytokine activity|growth factor activity|interleukin-11 receptor binding 0 Breast(117;0.191) Renal(1328;0.245) BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) Oprelvekin(DB00038) TGGCCCAGGGGCGACAGCTGT 0.652000 PXDN 7837 broad.mit.edu 37 2 1647273 1647273 + Silent SNP G G T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:1647273G>T uc002qxa.2 - 19 3883 c.3819C>A c.(3817-3819)ATC>ATA p.I1273I NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 1273 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) TGTCGCATAGGATCCTGGCCA 0.612000 PXDN 7837 broad.mit.edu 37 2 1652724 1652724 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:1652724C>T uc002qxa.2 - 17 2892 c.2828G>A c.(2827-2829)CGG>CAG p.R943Q NM_012293 NP_036425 Q92626 PXDN_HUMAN peroxidasin precursor 943 extracellular matrix organization|hydrogen peroxide catabolic process|immune response endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity pancreas(6)|ovary(2) 8 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797) all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716) all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228) CTTCCCGGACCGCTGCACGAT 0.711000 COLEC11 78989 broad.mit.edu 37 2 3691528 3691528 + Silent SNP C C T rs141570591 by1000genomes TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:3691528C>T uc002qya.2 + 7 784 c.636C>T c.(634-636)GGC>GGT p.G212G COLEC11_uc002qxz.2_Silent_p.G209G|COLEC11_uc002qyb.2_Silent_p.G188G|COLEC11_uc002qyc.2_Silent_p.G188G|COLEC11_uc010ewo.2_Silent_p.G164G|COLEC11_uc010ewp.2_Silent_p.G186G|COLEC11_uc010ewq.2_Silent_p.G162G|COLEC11_uc010ewr.2_Silent_p.G162G|COLEC11_uc010ews.2_Silent_p.G138G NM_024027 NP_076932 Q9BWP8 COL11_HUMAN collectin sub-family member 11 isoform a 212 C-type lectin. collagen mannose binding 0 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) OV - Ovarian serous cystadenocarcinoma(76;0.127) AGAAGGAGGGCGCCTTCGTGT 0.632000 NT5C1B 93034 broad.mit.edu 37 2 18765460 18765460 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:18765460T>C uc002rcz.2 - 6 1069 c.965A>G c.(964-966)GAC>GGC p.D322G NT5C1B_uc002rcy.2_Missense_Mutation_p.D322G|NT5C1B_uc010exr.2_Missense_Mutation_p.D264G|NT5C1B_uc010yju.1_Missense_Mutation_p.D262G|NT5C1B_uc002rda.2_Missense_Mutation_p.D262G|NT5C1B_uc010yjv.1_Missense_Mutation_p.D339G|NT5C1B_uc010yjw.1_Missense_Mutation_p.D305G|NT5C1B_uc010exs.2_Missense_Mutation_p.D324G|NT5C1B_uc002rdb.1_Missense_Mutation_p.D114G NM_001002006 NP_001002006 Q96P26 5NT1B_HUMAN 5' nucleotidase, cytosolic IB isoform 1 322 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) TTTCCTGCCGTCCACCATGTT 0.557000 APOB 338 broad.mit.edu 37 2 21256384 21256384 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:21256384T>C uc002red.2 - 9 1039 c.911A>G c.(910-912)AAG>AGG p.K304R NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 304 Vitellogenin.|Heparin-binding. cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GCCCATCTTCTTAGTACCTGG 0.443000 ITSN2 50618 broad.mit.edu 37 2 24507636 24507636 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:24507636A>C uc002rfe.2 - 17 2198 c.1940T>G c.(1939-1941)CTT>CGT p.L647R ITSN2_uc002rff.2_Intron|ITSN2_uc002rfg.2_Missense_Mutation_p.L647R NM_006277 NP_006268 Q9NZM3 ITSN2_HUMAN intersectin 2 isoform 1 647 Potential. endocytosis|regulation of Rho protein signal transduction cytoplasm calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity kidney(2)|ovary(1)|central_nervous_system(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AATAACCTTAAGTAAGAGGAA 0.338000 PRKD3 23683 broad.mit.edu 37 2 37483980 37483980 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:37483980T>G uc002rqd.2 - 16 2793 c.2238A>C c.(2236-2238)GAA>GAC p.E746D PRKD3_uc002rqe.1_Missense_Mutation_p.E346D NM_005813 NP_005804 O94806 KPCD3_HUMAN protein kinase D3 746 Protein kinase. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction cytoplasm|membrane|nucleus ATP binding|metal ion binding|protein binding|protein kinase C activity lung(2)|ovary(1)|central_nervous_system(1) 4 all_hematologic(82;0.21) TCCGGAGAACTTCAGGGGCTA 0.458000 FSHR 2492 broad.mit.edu 37 2 49190889 49190889 + Silent SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:49190889T>C uc002rww.2 - 10 1145 c.1071A>G c.(1069-1071)GAA>GAG p.E357E FSHR_uc002rwx.2_Silent_p.E295E|FSHR_uc010fbn.2_Silent_p.E331E NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 357 Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) CCATGATATCTTCACATGGGT 0.463000 Gonadal_Dysgenesis_46_XX ATP6V1B1 525 broad.mit.edu 37 2 71192185 71192185 + Silent SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:71192185C>T uc002shj.2 + 14 1563 c.1476C>T c.(1474-1476)GCC>GCT p.A492A ATP6V1B1_uc010fdv.2_Silent_p.A475A|ATP6V1B1_uc010fdw.2_RNA|ATP6V1B1_uc010fdx.2_Silent_p.A450A NM_001692 NP_001683 P15313 VATB1_HUMAN ATPase, H+ transporting, lysosomal 56/58kDa, V1 492 ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism skin(1) 1 TTCCGCAGGCCGTGATCGACG 0.672000 OREG0014686 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ALMS1 7840 broad.mit.edu 37 2 73835667 73835667 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:73835667A>C uc002sje.1 + 24 12542 c.12431A>C c.(12430-12432)AAG>ACG p.K4144T ALMS1_uc002sjf.1_Missense_Mutation_p.K4100T NM_015120 NP_055935 Q8TCU4 ALMS1_HUMAN Alstrom syndrome 1 4142 G2/M transition of mitotic cell cycle centrosome|cilium|cytosol|microtubule basal body|spindle pole skin(3)|ovary(2)|breast(2)|pancreas(1)|lung(1) 9 TCAGAATATAAGTCATACCGG 0.428000 FER1L5 90342 broad.mit.edu 37 2 97370410 97370410 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:97370410T>G uc010fia.2 + 52 6263 c.6263T>G c.(6262-6264)CTT>CGT p.L2088R FER1L5_uc002sws.3_Missense_Mutation_p.L797R|FER1L5_uc002swt.3_Missense_Mutation_p.L797R|FER1L5_uc010yus.1_Missense_Mutation_p.L796R NM_001113382 NP_001106853 A0AVI2 FR1L5_HUMAN fer-1-like 5 isoform 2 2088 integral to membrane ovary(1) 1 TTCCCAGAACTTCCAGCCCCA 0.507000 CNGA3 1261 broad.mit.edu 37 2 99013210 99013210 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:99013210A>C uc002syt.2 + 8 1994 c.1577A>C c.(1576-1578)AAG>ACG p.K526T CNGA3_uc002syu.2_Missense_Mutation_p.K508T|CNGA3_uc010fij.2_Missense_Mutation_p.K530T NM_001298 NP_001289 Q16281 CNGA3_HUMAN cyclic nucleotide gated channel alpha 3 isoform 526 cGMP. signal transduction|visual perception integral to membrane cGMP binding ovary(5)|upper_aerodigestive_tract(1) 6 AACGAGGGCAAGCTGGCCGTG 0.552000 C2orf55 343990 broad.mit.edu 37 2 99439852 99439852 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:99439852G>A uc002szf.1 - 7 1178 c.884C>T c.(883-885)CCA>CTA p.P295L NM_207362 NP_997245 Q6NV74 CB055_HUMAN hypothetical protein LOC343990 295 Pro-rich. 0 GGGCGCCGGTGGCCCAGGCTC 0.721000 AFF3 3899 broad.mit.edu 37 2 100203726 100203726 + Silent SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:100203726G>A uc002tag.2 - 15 2717 c.2481C>T c.(2479-2481)GAC>GAT p.D827D AFF3_uc002taf.2_Silent_p.D852D|AFF3_uc010fiq.1_Silent_p.D827D|AFF3_uc010yvr.1_Silent_p.D980D|AFF3_uc002tah.1_Silent_p.D852D NM_002285 NP_002276 P51826 AFF3_HUMAN AF4/FMR2 family, member 3 isoform 1 827 multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1) 6 CCCTGTAGTCGTCTTCGTTGT 0.473000 IL1F5 26525 broad.mit.edu 37 2 113820164 113820164 + Silent SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:113820164A>G uc002tis.2 + 5 511 c.378A>G c.(376-378)GAA>GAG p.E126E IL1F5_uc002tit.2_Silent_p.E126E NM_173170 NP_775262 Q9UBH0 I36RA_HUMAN interleukin 1 family, member 5 126 extracellular space cytokine activity|interleukin-1 receptor antagonist activity 0 CGGTGCCTGAAGCCGATCAGC 0.602000 ZEB2 9839 broad.mit.edu 37 2 145157299 145157299 + Missense_Mutation SNP C C G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:145157299C>G uc002tvu.2 - 8 1935 c.1455G>C c.(1453-1455)AAG>AAC p.K485N ZEB2_uc002tvv.2_Missense_Mutation_p.K479N|ZEB2_uc010zbm.1_Missense_Mutation_p.K456N|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Missense_Mutation_p.K514N NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 485 SMAD-MH2 binding domain (By similarity). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) AACCTTTCAACTTTGAAATTT 0.408000 ZEB2 9839 broad.mit.edu 37 2 145157311 145157311 + Silent SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:145157311T>C uc002tvu.2 - 8 1923 c.1443A>G c.(1441-1443)GAA>GAG p.E481E ZEB2_uc002tvv.2_Silent_p.E475E|ZEB2_uc010zbm.1_Silent_p.E452E|ZEB2_uc010fnp.2_Intron|ZEB2_uc010fnq.1_Silent_p.E510E NM_014795 NP_055610 O60315 ZEB2_HUMAN zinc finger homeobox 1b 481 SMAD-MH2 binding domain (By similarity). cytoplasm|nucleolus phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding ovary(5)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1) 9 BRCA - Breast invasive adenocarcinoma(221;0.112) TTGAAATTTCTTCAGCCTTGC 0.418000 NEB 4703 broad.mit.edu 37 2 152470950 152470950 + Missense_Mutation SNP T T A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:152470950T>A uc010fnx.2 - 73 10903 c.10712A>T c.(10711-10713)AAG>ATG p.K3571M NM_004543 NP_004534 P20929 NEBU_HUMAN nebulin isoform 3 3571 muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development actin cytoskeleton|cytosol|Z disc actin binding|structural constituent of muscle ovary(8)|large_intestine(5)|breast(3)|central_nervous_system(2)|skin(1)|pancreas(1) 20 BRCA - Breast invasive adenocarcinoma(221;0.219) GCTGCTGAACTTGGTCTTCCA 0.517000 GALNT13 114805 broad.mit.edu 37 2 155295112 155295112 + Silent SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:155295112T>G uc002tyr.3 + 12 1971 c.1404T>G c.(1402-1404)TCT>TCG p.S468S GALNT13_uc002tyt.3_Silent_p.S468S|GALNT13_uc010fod.2_Intron|uc002tyu.1_Intron NM_052917 NP_443149 Q8IUC8 GLT13_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 468 Ricin B-type lectin.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding p.S468Y(1) ovary(2)|pancreas(2)|central_nervous_system(1)|skin(1) 6 AGGTATTTTCTTACACTGCTG 0.313000 KCNH7 90134 broad.mit.edu 37 2 163693107 163693107 + Missense_Mutation SNP C C A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:163693107C>A uc002uch.1 - 2 459 c.247G>T c.(247-249)GCC>TCC p.A83S KCNH7_uc002uci.2_Missense_Mutation_p.A83S NM_033272 NP_150375 Q9NS40 KCNH7_HUMAN potassium voltage-gated channel, subfamily H, 83 Cytoplasmic (Potential). regulation of transcription, DNA-dependent integral to membrane protein binding|signal transducer activity ovary(3)|skin(2) 5 Ibutilide(DB00308) AATGCCTGGGCAATTTGGGCA 0.468000 PHOSPHO2 493911 broad.mit.edu 37 2 170557595 170557595 + Silent SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:170557595T>G uc002ufg.2 + 4 502 c.114T>G c.(112-114)TCT>TCG p.S38S KLHL23_uc002ufh.1_Intron NM_001008489 NP_001008489 Q8TCD6 PHOP2_HUMAN phosphatase, orphan 2 38 metal ion binding|pyridoxal phosphatase activity skin(1) 1 TACGTGATTCTTATCGAAAAG 0.353000 HOXD10 3236 broad.mit.edu 37 2 176983956 176983956 + Silent SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:176983956T>G uc002ukj.2 + 2 1090 c.1020T>G c.(1018-1020)TCT>TCG p.S340S NM_002148 NP_002139 P28358 HXD10_HUMAN homeobox D10 340 nucleus sequence-specific DNA binding ovary(1) 1 OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18) Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556) TCACGTTTTCTTAggtctgag 0.448000 ITGAV 3685 broad.mit.edu 37 2 187521058 187521058 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:187521058G>A uc002upq.2 + 17 1925 c.1649G>A c.(1648-1650)AGT>AAT p.S550N ITGAV_uc010frs.2_Missense_Mutation_p.S514N|ITGAV_uc010zfv.1_Missense_Mutation_p.S504N NM_002210 NP_002201 P06756 ITAV_HUMAN integrin alpha-V isoform 1 precursor 550 Extracellular (Potential). angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance integrin complex receptor activity|transforming growth factor beta binding ovary(2)|kidney(1)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189) STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108) AGGTCCCCAAGTCACTCCAAG 0.453000 MFSD6 54842 broad.mit.edu 37 2 191301390 191301390 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:191301390T>G uc002urz.2 + 3 959 c.635T>G c.(634-636)GTT>GGT p.V212G NM_017694 NP_060164 Q6ZSS7 MFSD6_HUMAN major facilitator superfamily domain containing 212 transmembrane transport integral to membrane ovary(2) 2 TCAGACACCGTTACTTTGCCA 0.438000 ALS2CR4 65062 broad.mit.edu 37 2 202489002 202489002 + Missense_Mutation SNP C C G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:202489002C>G uc002uyh.1 - 14 1304 c.1203G>C c.(1201-1203)GAG>GAC p.E401D ALS2CR4_uc002uyg.1_Missense_Mutation_p.E393D|ALS2CR4_uc010zho.1_Missense_Mutation_p.E196D NM_001044385 NP_001037850 Q96Q45 TM237_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 425 integral to membrane protein binding 0 TGATTTCTTTCTCTTTATCAG 0.343000 DYTN 391475 broad.mit.edu 37 2 207527659 207527659 + Missense_Mutation SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:207527659A>G uc002vbr.1 - 11 1718 c.1601T>C c.(1600-1602)CTT>CCT p.L534P NM_001093730 NP_001087199 A2CJ06 DYTN_HUMAN dystrotelin 534 Potential. plasma membrane zinc ion binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153) GGCATCCATAAGTTTTGACAA 0.438000 KIAA1486 57624 broad.mit.edu 37 2 226446694 226446694 + Silent SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:226446694C>T uc002voe.2 + 4 736 c.561C>T c.(559-561)TCC>TCT p.S187S KIAA1486_uc010fxa.1_Intron|KIAA1486_uc002vof.1_5'UTR NM_020864 NP_065915 Q9P242 K1486_HUMAN hypothetical protein LOC57624 187 ovary(2)|central_nervous_system(1) 3 Renal(207;0.0112)|all_lung(227;0.0477)|Lung NSC(271;0.0644)|all_hematologic(139;0.101)|Esophageal squamous(248;0.129) Epithelial(121;6.73e-10)|all cancers(144;4.32e-07)|Lung(261;0.0161)|LUSC - Lung squamous cell carcinoma(224;0.0223) ATGAATATTCCAAGAAGATTC 0.423000 COL6A3 1293 broad.mit.edu 37 2 238283329 238283329 + Silent SNP C C G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:238283329C>G uc002vwl.2 - 8 3690 c.3405G>C c.(3403-3405)CTG>CTC p.L1135L COL6A3_uc002vwo.2_Silent_p.L929L|COL6A3_uc010znj.1_Silent_p.L528L|COL6A3_uc002vwq.2_Silent_p.L929L|COL6A3_uc002vwr.2_Silent_p.L728L NM_004369 NP_004360 P12111 CO6A3_HUMAN alpha 3 type VI collagen isoform 1 precursor 1135 Nonhelical region.|VWFA 6. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity ovary(8)|central_nervous_system(6)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 18 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) GGACGATCAGCAGCTGGGGCA 0.642000 SNED1 25992 broad.mit.edu 37 2 241969917 241969917 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr2:241969917T>G uc002wah.1 + 2 430 c.430T>G c.(430-432)TTC>GTC p.F144V NM_001080437 NP_001073906 Q8TER0 SNED1_HUMAN 6720455I24Rik homolog precursor 144 NIDO. cell-matrix adhesion extracellular region calcium ion binding breast(1)|central_nervous_system(1) 2 all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238) Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109) GCTCCTGGACTTCAATGCCAC 0.632000 VPS16 64601 broad.mit.edu 37 20 2845684 2845684 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr20:2845684A>C uc002whe.2 + 20 2035 c.1987A>C c.(1987-1989)AAT>CAT p.N663H VPS16_uc002whh.2_RNA|PTPRA_uc002whj.2_5'UTR|VPS16_uc002whf.2_Missense_Mutation_p.N519H|VPS16_uc002whd.2_RNA|VPS16_uc002whg.2_Missense_Mutation_p.N349H|VPS16_uc002whi.2_Missense_Mutation_p.N147H NM_022575 NP_072097 Q9H269 VPS16_HUMAN vacuolar protein sorting 16 isoform 1 663 intracellular protein transport early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome ovary(2)|pancreas(1)|skin(1) 4 CAAGGCCAAGAATGAGTTTGC 0.542000 HAO1 54363 broad.mit.edu 37 20 7920962 7920962 + Silent SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr20:7920962A>G uc002wmw.1 - 1 132 c.108T>C c.(106-108)ACT>ACC p.T36T HAO1_uc010gbu.2_Silent_p.T36T NM_017545 NP_060015 Q9UJM8 HAOX1_HUMAN hydroxyacid oxidase 1 36 FMN hydroxy acid dehydrogenase. cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process peroxisomal matrix FMN binding|glycolate oxidase activity|glyoxylate oxidase activity ovary(3) 3 TATCAGCCAAAGTTTCTTCAT 0.318000 NINL 22981 broad.mit.edu 37 20 25459831 25459831 + Silent SNP G G A rs148406486 by1000genomes TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr20:25459831G>A uc002wux.1 - 16 2003 c.1929C>T c.(1927-1929)TAC>TAT p.Y643Y NINL_uc010gdn.1_Silent_p.Y643Y|NINL_uc010gdo.1_Silent_p.Y426Y NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 643 Potential. G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 TTTCCCTTTCGTAGTAATTTA 0.527000 DNMT3B 1789 broad.mit.edu 37 20 31386384 31386384 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr20:31386384C>T uc002wyc.2 + 15 1930 c.1609C>T c.(1609-1611)CGG>TGG p.R537W DNMT3B_uc010ztx.1_RNA|DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.R517W|DNMT3B_uc002wye.2_Missense_Mutation_p.R517W|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.R475W|DNMT3B_uc010zua.1_Missense_Mutation_p.R441W|DNMT3B_uc002wyf.2_Missense_Mutation_p.R529W|DNMT3B_uc002wyg.2_Missense_Mutation_p.R236W|DNMT3B_uc010geg.2_5'Flank|DNMT3B_uc010geh.2_5'Flank NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN DNA cytosine-5 methyltransferase 3 beta isoform 537 ADD. negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity lung(3)|ovary(2) 5 TGGCGTCCTGCGGCGCCGGAA 0.637000 BPIL1 80341 broad.mit.edu 37 20 31601629 31601629 + Silent SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr20:31601629C>T uc002wyj.2 + 5 516 c.322C>T c.(322-324)CTG>TTG p.L108L NM_025227 NP_079503 Q8N4F0 BPIL1_HUMAN bactericidal/permeability-increasing 108 extracellular region lipid binding skin(2)|large_intestine(1)|ovary(1) 4 CCCAGAGCCCCTGGAGCTGAC 0.612000 RPN2 6185 broad.mit.edu 37 20 35862467 35862467 + Silent SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr20:35862467T>C uc002xgp.2 + 15 2026 c.1722T>C c.(1720-1722)CCT>CCC p.P574P RPN2_uc002xgq.2_Silent_p.P542P NM_002951 NP_002942 P04844 RPN2_HUMAN ribophorin II isoform 1 precursor 574 Helical; (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to membrane|nucleus|oligosaccharyltransferase complex dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding ovary(2)|skin(1) 3 Myeloproliferative disorder(115;0.00878) CTTTTGCTCCTAGCACGATTA 0.458000 SLC32A1 140679 broad.mit.edu 37 20 37357171 37357171 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr20:37357171A>C uc002xjc.2 + 2 1730 c.1467A>C c.(1465-1467)CAA>CAC p.Q489H NM_080552 NP_542119 Q9H598 VIAAT_HUMAN solute carrier family 32, member 1 489 Lumenal, vesicle (Potential). neurotransmitter secretion clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane vesicular hydrogen:amino acid antiporter activity 0 Myeloproliferative disorder(115;0.00878) Glycine(DB00145) TGTGGCACCAAGTCTTCTTCG 0.642000 DDX27 55661 broad.mit.edu 37 20 47851592 47851592 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr20:47851592A>C uc002xuh.2 + 12 1548 c.1487A>C c.(1486-1488)AAC>ACC p.N496T NM_017895 NP_060365 Q96GQ7 DDX27_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 27 496 Helicase C-terminal. nucleus ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding kidney(2) 2 BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166) CTCCATGGCAACTTGTCACAG 0.597000 KCNG1 3755 broad.mit.edu 37 20 49620993 49620993 + Silent SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr20:49620993G>A uc002xwa.3 - 3 1420 c.1125C>T c.(1123-1125)CGC>CGT p.R375R NM_002237 NP_002228 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, 375 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 GCCCGAACTCGCGGGTGCAGC 0.701000 SALL4 57167 broad.mit.edu 37 20 50406871 50406871 + Silent SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr20:50406871C>T uc002xwh.3 - 2 2252 c.2151G>A c.(2149-2151)TCG>TCA p.S717S SALL4_uc010gii.2_Intron|SALL4_uc002xwi.3_Intron NM_020436 NP_065169 Q9UJQ4 SALL4_HUMAN sal-like 4 717 transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2) 2 TGGGTGATGCCGAGTGGATGC 0.577000 ARFGAP1 55738 broad.mit.edu 37 20 61910326 61910326 + Silent SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr20:61910326C>T uc002yem.2 + 7 718 c.606C>T c.(604-606)AAC>AAT p.N202N ARFGAP1_uc011aas.1_Silent_p.N149N|ARFGAP1_uc011aat.1_Silent_p.N89N|ARFGAP1_uc002yel.2_Silent_p.N202N|ARFGAP1_uc002yen.2_Silent_p.N202N NM_018209 NP_060679 Q8N6T3 ARFG1_HUMAN ADP-ribosylation factor GTPase activating 202 COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER cytosol|Golgi-associated vesicle membrane ARF GTPase activator activity|zinc ion binding pancreas(1) 1 all_cancers(38;1.59e-09) TCCTCAACAACGCCATGTCCT 0.607000 TPTE 7179 broad.mit.edu 37 21 10906985 10906985 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr21:10906985T>G uc002yip.1 - 24 1944 c.1576A>C c.(1576-1578)ATT>CTT p.I526L TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Missense_Mutation_p.I508L|TPTE_uc002yir.1_Missense_Mutation_p.I488L|TPTE_uc010gkv.1_Missense_Mutation_p.I388L NM_199261 NP_954870 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 526 C2 tensin-type. signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity ovary(2)|lung(1)|breast(1)|skin(1) 5 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) GATGGATAAATTCTCCGTGCT 0.363000 TIAM1 7074 broad.mit.edu 37 21 32554938 32554938 + Missense_Mutation SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr21:32554938A>G uc002yow.1 - 16 3159 c.2687T>C c.(2686-2688)CTT>CCT p.L896P TIAM1_uc011adk.1_Missense_Mutation_p.L896P|TIAM1_uc011adl.1_Missense_Mutation_p.L836P NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 896 PDZ. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 ATTGATCTCAAGAATCTCATC 0.473000 ADRBK2 157 broad.mit.edu 37 22 26110408 26110408 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr22:26110408T>G uc003abx.3 + 18 1672 c.1525T>G c.(1525-1527)TTC>GTC p.F509V ADRBK2_uc003abw.2_Missense_Mutation_p.F396V|ADRBK2_uc003aby.3_RNA NM_005160 NP_005151 P35626 ARBK2_HUMAN beta-adrenergic receptor kinase 2 509 AGC-kinase C-terminal. ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity lung(3)|ovary(2)|stomach(1)|central_nervous_system(1) 7 Adenosine triphosphate(DB00171) CTACAAGAACTTCCCTTTGGT 0.408000 CRYBA4 1413 broad.mit.edu 37 22 27024279 27024279 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr22:27024279T>G uc003acz.3 + 5 363 c.328T>G c.(328-330)TTC>GTC p.F110V NM_001886 NP_001877 P53673 CRBA4_HUMAN crystallin, beta A4 110 Beta/gamma crystallin 'Greek key' 3. camera-type eye development|visual perception soluble fraction structural constituent of eye lens 0 GCTGACAATCTTCGAGCAAGA 0.562000 SYNGR1 9145 broad.mit.edu 37 22 39772142 39772142 + Silent SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr22:39772142C>T uc003axq.3 + 3 485 c.423C>T c.(421-423)AAC>AAT p.N141N SYNGR1_uc003axo.3_Silent_p.N141N|SYNGR1_uc003axp.3_Nonsense_Mutation_p.R108*|TAB1_uc003axr.2_Silent_p.N67N|SYNGR1_uc003axs.3_Silent_p.N142N NM_004711 NP_004702 O43759 SNG1_HUMAN synaptogyrin 1 isoform 1a 141 MARVEL. regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity cell junction|integral to plasma membrane|melanosome 0 Melanoma(58;0.04) ACCCACTGAACGAAGGGACGG 0.632000 EFCAB6 64800 broad.mit.edu 37 22 44062988 44062988 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr22:44062988T>G uc003bdy.1 - 17 2194 c.1979A>C c.(1978-1980)AAG>ACG p.K660T EFCAB6_uc003bdz.1_Missense_Mutation_p.K508T|EFCAB6_uc010gzi.1_Missense_Mutation_p.K508T|EFCAB6_uc010gzj.1_5'UTR|EFCAB6_uc010gzk.1_RNA NM_022785 NP_073622 Q5THR3 EFCB6_HUMAN CAP-binding protein complex interacting protein 660 EF-hand 7. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus calcium ion binding ovary(3)|skin(2)|upper_aerodigestive_tract(1)|pancreas(1) 7 Ovarian(80;0.0247)|all_neural(38;0.025) TCCTACCTTCTTAAAGTCATG 0.388000 FBLN2 2199 broad.mit.edu 37 3 13655628 13655628 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr3:13655628C>T uc011avb.1 + 5 1818 c.1693C>T c.(1693-1695)CGC>TGC p.R565C FBLN2_uc011auz.1_Missense_Mutation_p.R591C|FBLN2_uc011ava.1_Missense_Mutation_p.R565C|FBLN2_uc011avc.1_Missense_Mutation_p.R565C|uc003byc.1_5'Flank NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 565 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) ACCTGAGGTTCGCCGACCTCC 0.597000 TBC1D5 9779 broad.mit.edu 37 3 17279755 17279755 + Silent SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr3:17279755A>G uc003cbf.2 - 17 3153 c.1488T>C c.(1486-1488)CCT>CCC p.P496P TBC1D5_uc010heu.2_Silent_p.P83P|TBC1D5_uc010hev.2_Silent_p.P496P|TBC1D5_uc003cbe.2_Silent_p.P496P|TBC1D5_uc010hew.1_Silent_p.P448P NM_014744 NP_055559 Q92609 TBCD5_HUMAN TBC1 domain family, member 5 isoform b 496 intracellular protein binding|Rab GTPase activator activity ovary(1) 1 AGGTCCTGGTAGGAATTACAA 0.517000 CYP8B1 1582 broad.mit.edu 37 3 42916035 42916035 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr3:42916035T>G uc003cmh.2 - 1 1599 c.1274A>C c.(1273-1275)AAG>ACG p.K425T CCBP2_uc003cmd.1_Intron|CCBP2_uc003cmg.2_Intron|CYP8B1_uc010hif.2_Missense_Mutation_p.K425T NM_004391 NP_004382 Q9UNU6 CP8B1_HUMAN cytochrome P450, family 8, subfamily B, 425 bile acid biosynthetic process|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome 7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249) GTGGTGGATCTTCTTGCCTGT 0.542000 RBM5 10181 broad.mit.edu 37 3 50153411 50153411 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr3:50153411G>A uc003cyg.2 + 22 2240 c.2092G>A c.(2092-2094)GAG>AAG p.E698K RBM5_uc011bdj.1_Missense_Mutation_p.E642K|RBM5_uc011bdk.1_Missense_Mutation_p.E526K|RBM5_uc003cyh.2_Missense_Mutation_p.E155K NM_005778 NP_005769 P52756 RBM5_HUMAN RNA binding motif protein 5 698 Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) AAGGGAGAGAGAGGTGAATGG 0.468000 WNT5A 7474 broad.mit.edu 37 3 55504415 55504415 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr3:55504415T>C uc003dhn.2 - 5 1166 c.848A>G c.(847-849)AAG>AGG p.K283R WNT5A_uc003dhm.2_Missense_Mutation_p.K268R|WNT5A_uc010hmw.2_Missense_Mutation_p.K268R|WNT5A_uc010hmx.2_Missense_Mutation_p.K194R NM_003392 NP_003383 P41221 WNT5A_HUMAN wingless-type MMTV integration site family, 283 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding 0 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) CTGTACCAACTTGCCCCGGCT 0.617000 GABRR3 200959 broad.mit.edu 37 3 97705706 97705706 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr3:97705706T>C uc011bgr.1 - 9 1225 c.1225A>G c.(1225-1227)AGA>GGA p.R409G NM_001105580 NP_001099050 A8MPY1 GBRR3_HUMAN gamma-aminobutyric acid (GABA) receptor, rho 3 409 Cytoplasmic (Potential).|Interaction with SQSTM1 (By similarity). gamma-aminobutyric acid signaling pathway|synaptic transmission cell junction|chloride channel complex|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity 0 ATCGATTTTCTTCTCATGAAG 0.438000 OR5AC2 81050 broad.mit.edu 37 3 97806150 97806150 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr3:97806150T>G uc011bgs.1 + 1 134 c.134T>G c.(133-135)CTT>CGT p.L45R NM_054106 NP_473447 Q9NZP5 O5AC2_HUMAN olfactory receptor, family 5, subfamily AC, 45 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 GTGGGCAACCTTGGACTGATA 0.448000 OR5K2 402135 broad.mit.edu 37 3 98216669 98216669 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr3:98216669A>C uc011bgx.1 + 1 145 c.145A>C c.(145-147)ATA>CTA p.I49L NM_001004737 NP_001004737 Q8NHB8 OR5K2_HUMAN olfactory receptor, family 5, subfamily K, 49 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 GGTGGCACTGATATTTACACA 0.453000 ABI3BP 25890 broad.mit.edu 37 3 100523678 100523678 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr3:100523678G>A uc003dun.2 - 20 1790 c.1705C>T c.(1705-1707)CCA>TCA p.P569S ABI3BP_uc003duj.2_Missense_Mutation_p.P124S|ABI3BP_uc003duk.2_Missense_Mutation_p.P253S|ABI3BP_uc003dul.2_Missense_Mutation_p.P374S|ABI3BP_uc011bhd.1_Missense_Mutation_p.P523S|ABI3BP_uc003dum.2_5'UTR NM_015429 NP_056244 Q7Z7G0 TARSH_HUMAN ABI gene family, member 3 (NESH) binding protein 569 Pro-rich. extracellular space ovary(2)|large_intestine(1)|haematopoietic_and_lymphoid_tissue(1) 4 GACGTTTTTGGTTTTGCAGTA 0.413000 KTELC1 56983 broad.mit.edu 37 3 119205779 119205779 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr3:119205779A>C uc003ecm.2 + 7 822 c.738A>C c.(736-738)AAA>AAC p.K246N KTELC1_uc011biz.1_RNA|KTELC1_uc011bja.1_Missense_Mutation_p.K87N NM_152305 NP_689518 Q8NBL1 PGLT1_HUMAN KTEL (Lys-Tyr-Glu-Leu) containing 1 precursor 246 endoplasmic reticulum lumen UDP-glucosyltransferase activity 0 GBM - Glioblastoma multiforme(114;0.233) AATCTATGAAAGTAATCACCA 0.428000 HGD 3081 broad.mit.edu 37 3 120352085 120352085 + Missense_Mutation SNP C C A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr3:120352085C>A uc003edw.2 - 13 1467 c.1097G>T c.(1096-1098)AGC>ATC p.S366I HGD_uc003edv.2_Missense_Mutation_p.S225I NM_000187 NP_000178 Q93099 HGD_HUMAN homogentisate 1,2-dioxygenase 366 L-phenylalanine catabolic process|tyrosine catabolic process cytosol homogentisate 1,2-dioxygenase activity|metal ion binding 0 GBM - Glioblastoma multiforme(114;0.158) GGTCATTGTGCTGTGTAGACT 0.557000 PLXNA1 5361 broad.mit.edu 37 3 126736735 126736735 + Silent SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr3:126736735G>A uc003ejg.2 + 18 3595 c.3591G>A c.(3589-3591)ACG>ACA p.T1197T NM_032242 NP_115618 Q9UIW2 PLXA1_HUMAN plexin A1 1220 Extracellular (Potential).|IPT/TIG 4. axon guidance integral to membrane|intracellular|plasma membrane semaphorin receptor activity ovary(1)|pancreas(1)|skin(1) 3 GBM - Glioblastoma multiforme(114;0.155) ACAAGGTCACGGTGCGTCTGT 0.657000 TOPBP1 11073 broad.mit.edu 37 3 133379947 133379947 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr3:133379947A>C uc003eps.2 - 2 157 c.25T>G c.(25-27)TTT>GTT p.F9V NM_007027 NP_008958 Q92547 TOPB1_HUMAN topoisomerase (DNA) II binding protein 1 9 DNA repair|response to ionizing radiation microtubule organizing center|PML body|spindle pole DNA binding|protein C-terminus binding ovary(2)|kidney(2)|skin(1)|lung(1)|pancreas(1) 7 TTCACAAAAAACGGTTCTTTG 0.308000 Other_conserved_DNA_damage_response_genes PCOLCE2 26577 broad.mit.edu 37 3 142567080 142567080 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr3:142567080C>T uc003evd.2 - 3 623 c.427G>A c.(427-429)GCT>ACT p.A143T NM_013363 NP_037495 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 143 CUB 1. extracellular region collagen binding|heparin binding|peptidase activator activity ovary(2)|skin(1) 3 GGTTCAGCAGCGGAGAACATG 0.458000 GNB4 59345 broad.mit.edu 37 3 179132727 179132727 + Missense_Mutation SNP A A T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr3:179132727A>T uc003fjv.3 - 6 656 c.376T>A c.(376-378)TTA>ATA p.L126I GNB4_uc003fju.3_Missense_Mutation_p.L37I NM_021629 NP_067642 Q9HAV0 GBB4_HUMAN guanine nucleotide-binding protein, beta-4 126 WD 2. cellular response to glucagon stimulus|energy reserve metabolic process plasma membrane signal transducer activity skin(2) 2 all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191) OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237) CTGGTCTTTAAGTTATATATA 0.468000 IL1RAP 3556 broad.mit.edu 37 3 190366162 190366162 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr3:190366162A>C uc003fsm.1 + 12 1587 c.1381A>C c.(1381-1383)AGC>CGC p.S461R IL1RAP_uc010hzg.1_Missense_Mutation_p.S461R|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Missense_Mutation_p.S461R|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Intron NM_002182 NP_002173 Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein isoform 461 Cytoplasmic (Potential).|TIR. 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) CATTCAGAAAAGCAGACGCCT 0.512000 APOD 347 broad.mit.edu 37 3 195300808 195300808 + Missense_Mutation SNP G G T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr3:195300808G>T uc003fur.2 - 3 520 c.158C>A c.(157-159)CCA>CAA p.P53Q APOD_uc011bsx.1_Missense_Mutation_p.P53Q NM_001647 NP_001638 P05090 APOD_HUMAN apolipoprotein D precursor 53 lipid metabolic process extracellular space lipid binding|lipid transporter activity|protein binding ovary(2) 2 all_cancers(143;1.8e-08)|Ovarian(172;0.0634) Lung NSC(153;0.191) Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128) GBM - Glioblastoma multiforme(46;1.66e-05) AAAGGTTGTTGGGATCTTCTC 0.478000 MUC4 4585 broad.mit.edu 37 3 195495955 195495955 + Silent SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr3:195495955G>A uc011bto.1 - 8 13543 c.13083C>T c.(13081-13083)AGC>AGT p.S4361S MUC4_uc003fuz.2_Missense_Mutation_p.A117V|MUC4_uc003fva.2_5'UTR|MUC4_uc003fvb.2_Missense_Mutation_p.A35V|MUC4_uc003fvc.2_RNA|MUC4_uc003fvd.2_RNA|MUC4_uc003fve.2_Missense_Mutation_p.A35V|MUC4_uc010hzr.2_RNA|MUC4_uc011btf.1_5'UTR|MUC4_uc011btg.1_RNA|MUC4_uc011bth.1_Silent_p.S53S|MUC4_uc011bti.1_Silent_p.S53S|MUC4_uc011btj.1_Silent_p.S230S|MUC4_uc011btk.1_5'UTR|MUC4_uc011btl.1_5'UTR|MUC4_uc011btm.1_Silent_p.S178S|MUC4_uc011btn.1_5'UTR|MUC4_uc003fvo.2_Silent_p.S253S|MUC4_uc003fvp.2_Silent_p.S202S|MUC4_uc010hzu.1_Silent_p.S1101S NM_018406 NP_060876 Q99102 MUC4_HUMAN mucin 4 isoform a 1246 NIDO. 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) GCATCCCACCGCTCTGGTAGA 0.612000 CYTL1 54360 broad.mit.edu 37 4 5018891 5018891 + Missense_Mutation SNP A A T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr4:5018891A>T uc003gig.2 - 2 194 c.169T>A c.(169-171)TAC>AAC p.Y57N NM_018659 NP_061129 Q9NRR1 CYTL1_HUMAN cytokine-like 1 precursor 57 signal transduction extracellular space|soluble fraction receptor binding skin(1) 1 UCEC - Uterine corpus endometrioid carcinoma (64;0.164) CTGGGCAGGTATCTCACACAT 0.582000 LGI2 55203 broad.mit.edu 37 4 25030161 25030161 + Silent SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr4:25030161T>G uc003grf.2 - 2 336 c.237A>C c.(235-237)CGA>CGC p.R79R NM_018176 NP_060646 Q8N0V4 LGI2_HUMAN leucine-rich repeat LGI family, member 2 79 extracellular region 0 Breast(46;0.173) GGGAAAACATTCGGTCCTTGA 0.522000 TLR6 10333 broad.mit.edu 37 4 38830380 38830380 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr4:38830380T>C uc003gtm.2 - 1 781 c.715A>G c.(715-717)ATT>GTT p.I239V TLR6_uc010ifg.1_Missense_Mutation_p.I239V NM_006068 NP_006059 Q9Y2C9 TLR6_HUMAN toll-like receptor 6 precursor 239 Extracellular (Potential). activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway integral to plasma membrane|phagocytic vesicle membrane lipopeptide binding|transmembrane receptor activity ovary(2) 2 AAAAATTTAATGAAAACTTGA 0.338000 N4BP2 55728 broad.mit.edu 37 4 40115104 40115104 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr4:40115104A>C uc003guy.3 + 7 1978 c.1640A>C c.(1639-1641)AAG>ACG p.K547T N4BP2_uc010ifq.2_Missense_Mutation_p.K467T|N4BP2_uc010ifr.2_Missense_Mutation_p.K467T NM_018177 NP_060647 Q86UW6 N4BP2_HUMAN Nedd4 binding protein 2 547 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding lung(3)|breast(2)|kidney(2)|ovary(1) 8 ACATGGTGGAAGTTTAAACCA 0.363000 ATP8A1 10396 broad.mit.edu 37 4 42583692 42583692 + Silent SNP T T A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr4:42583692T>A uc003gwr.2 - 10 1012 c.780A>T c.(778-780)ACA>ACT p.T260T ATP8A1_uc003gws.2_Silent_p.T260T|ATP8A1_uc011byz.1_Silent_p.T260T NM_006095 NP_006086 Q9Y2Q0 AT8A1_HUMAN ATPase, aminophospholipid transporter (APLT), 260 Cytoplasmic (Potential). ATP biosynthetic process chromaffin granule membrane|integral to membrane|plasma membrane aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity skin(2)|central_nervous_system(1) 3 Phosphatidylserine(DB00144) GAACCCACTGTGTATTTCTCA 0.413000 UGT2A1 10941 broad.mit.edu 37 4 70513235 70513235 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr4:70513235A>C uc003hem.3 - 1 191 c.128T>G c.(127-129)CTC>CGC p.L43R UGT2A1_uc011caq.1_Missense_Mutation_p.L43R|UGT2A1_uc010ihu.2_Missense_Mutation_p.L43R|UGT2A1_uc010iht.2_Missense_Mutation_p.L43R NM_006798 NP_006789 Q9Y4X1 UD2A1_HUMAN UDP glucuronosyltransferase 2 family, 43 Extracellular (Potential). detection of chemical stimulus|sensory perception of smell integral to membrane glucuronosyltransferase activity|glucuronosyltransferase activity ovary(1) 1 CTTTTTAATGAGCTCATCTAT 0.393000 MEPE 56955 broad.mit.edu 37 4 88766376 88766376 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr4:88766376A>C uc003hqy.2 + 4 395 c.356A>C c.(355-357)AAG>ACG p.K119T MEPE_uc010ikn.2_Missense_Mutation_p.K6T NM_020203 NP_064588 Q9NQ76 MEPE_HUMAN matrix, extracellular phosphoglycoprotein with 119 skeletal system development proteinaceous extracellular matrix extracellular matrix structural constituent|protein binding ovary(1)|lung(1)|skin(1) 3 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000432) ATTTATCCTAAGTCAACTGGG 0.363000 FAM13A 10144 broad.mit.edu 37 4 89950685 89950685 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr4:89950685A>C uc003hse.1 - 2 351 c.143T>G c.(142-144)CTT>CGT p.L48R FAM13A_uc003hsf.1_5'UTR|FAM13A_uc003hsh.1_5'UTR|FAM13A_uc003hsi.2_Missense_Mutation_p.L48R|FAM13A_uc003hsj.2_Missense_Mutation_p.L48R NM_014883 NP_055698 O94988 FA13A_HUMAN family with sequence similarity 13, member A1 48 Rho-GAP. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(1)|liver(1) 2 CTGCCGTTCAAGTTCTTGGAG 0.428000 C4orf37 285555 broad.mit.edu 37 4 98902359 98902359 + Silent SNP A A T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr4:98902359A>T uc003htt.1 - 6 813 c.723T>A c.(721-723)GGT>GGA p.G241G NM_174952 NP_777612 Q8N412 CD037_HUMAN hypothetical protein LOC285555 241 0 OV - Ovarian serous cystadenocarcinoma(123;2.27e-08) CAGCACTTTGACCAAATGGAA 0.388000 EIF4E 1977 broad.mit.edu 37 4 99823081 99823081 + Missense_Mutation SNP G G C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr4:99823081G>C uc003hue.2 - 2 1594 c.71C>G c.(70-72)TCT>TGT p.S24C EIF4E_uc011cea.1_Missense_Mutation_p.S44C|EIF4E_uc011ceb.1_Missense_Mutation_p.S24C|EIF4E_uc011cec.1_Missense_Mutation_p.S24C NM_001968 NP_001959 P06730 IF4E_HUMAN eukaryotic translation initiation factor 4E 24 G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex protein binding|RNA cap binding|translation initiation factor activity lung(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227) CTCCTGATTAGATTCCGTTTT 0.378000 NDST3 9348 broad.mit.edu 37 4 119163259 119163259 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr4:119163259A>C uc003ibx.2 + 12 2757 c.2354A>C c.(2353-2355)AAG>ACG p.K785T NM_004784 NP_004775 O95803 NDST3_HUMAN N-deacetylase/N-sulfotransferase (heparan 785 Lumenal (Potential).|Heparan sulfate N-sulfotransferase 3. Golgi membrane|integral to membrane [heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity large_intestine(1) 1 GAAGTACAGAAGTTTCTAGGA 0.299000 ADAD1 132612 broad.mit.edu 37 4 123332388 123332388 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr4:123332388G>A uc003ieo.2 + 9 1092 c.860G>A c.(859-861)AGA>AAA p.R287K ADAD1_uc003iep.2_Intron|ADAD1_uc003ieq.2_Missense_Mutation_p.R269K NM_139243 NP_640336 Q96M93 ADAD1_HUMAN adenosine deaminase domain containing 1 287 A to I editase. multicellular organismal development|RNA processing nucleus adenosine deaminase activity|double-stranded RNA binding 0 TACTTTTATAGACAACTTCTG 0.289000 FAT4 79633 broad.mit.edu 37 4 126389829 126389829 + Missense_Mutation SNP A A T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr4:126389829A>T uc003ifj.3 + 11 12062 c.12062A>T c.(12061-12063)GAC>GTC p.D4021V FAT4_uc011cgp.1_Missense_Mutation_p.D2284V|FAT4_uc003ifi.1_Missense_Mutation_p.D1499V NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4021 Laminin G-like 1.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 CAGACAGGCGACCGGGCTGAG 0.403000 FAT4 79633 broad.mit.edu 37 4 126411383 126411383 + Missense_Mutation SNP T T A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr4:126411383T>A uc003ifj.3 + 17 13406 c.13406T>A c.(13405-13407)CTT>CAT p.L4469H FAT4_uc011cgp.1_Missense_Mutation_p.L2710H|FAT4_uc003ifi.1_Missense_Mutation_p.L1946H NM_024582 NP_078858 Q6V0I7 FAT4_HUMAN FAT tumor suppressor homolog 4 precursor 4469 Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(9)|skin(5)|upper_aerodigestive_tract(2)|pancreas(2) 18 GTGGCCTGTCTTGGCGTCCTC 0.602000 DCHS2 54798 broad.mit.edu 37 4 155287504 155287504 + Silent SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr4:155287504C>T uc003inw.2 - 5 552 c.552G>A c.(550-552)ACG>ACA p.T184T DCHS2_uc003inx.2_Silent_p.T778T NM_017639 NP_060109 Q6V1P9 PCD23_HUMAN dachsous 2 isoform 1 184 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(3)|pancreas(1) 4 all_hematologic(180;0.208) Renal(120;0.0854) LUSC - Lung squamous cell carcinoma(193;0.107) CACTGATGCTCGTCACATAGG 0.502000 GRIA2 2891 broad.mit.edu 37 4 158254090 158254090 + Silent SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr4:158254090A>G uc003ipm.3 + 7 1461 c.1002A>G c.(1000-1002)CCA>CCG p.P334P GRIA2_uc011cit.1_Silent_p.P287P|GRIA2_uc003ipl.3_Silent_p.P334P|GRIA2_uc003ipk.3_Silent_p.P287P|GRIA2_uc010iqh.1_RNA NM_001083619 NP_001077088 P42262 GRIA2_HUMAN glutamate receptor, ionotropic, AMPA 2 isoform 2 334 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity central_nervous_system(3)|ovary(1) 4 all_hematologic(180;0.24) Renal(120;0.0458) COAD - Colon adenocarcinoma(41;0.0294) L-Glutamic Acid(DB00142) TGGCAAACCCAGCAGTGCCCT 0.458000 CTNND2 1501 broad.mit.edu 37 5 11364952 11364952 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr5:11364952A>C uc003jfa.1 - 8 1373 c.1228T>G c.(1228-1230)TTG>GTG p.L410V CTNND2_uc010itt.2_Missense_Mutation_p.L319V|CTNND2_uc011cmy.1_Missense_Mutation_p.L73V|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_RNA|CTNND2_uc011cmx.1_5'UTR NM_001332 NP_001323 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 410 ARM 1. multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding large_intestine(2)|ovary(2)|skin(2)|pancreas(1)|lung(1) 8 AGGGCCCGCAACTCTGGGCCC 0.572000 DNAH5 1767 broad.mit.edu 37 5 13729648 13729648 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr5:13729648T>G uc003jfd.2 - 69 11825 c.11783A>C c.(11782-11784)AAA>ACA p.K3928T DNAH5_uc003jfc.2_Missense_Mutation_p.K96T NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3928 microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) AGGACAAGCTTTAAGGTCTAA 0.333000 Kartagener_syndrome DNAH5 1767 broad.mit.edu 37 5 13751364 13751364 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr5:13751364T>G uc003jfd.2 - 65 11076 c.11034A>C c.(11032-11034)AAA>AAC p.K3678N DNAH5_uc003jfc.2_5'UTR NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3678 AAA 5 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TGTCACCAACTTTCACCtttt 0.328000 Kartagener_syndrome BRIX1 55299 broad.mit.edu 37 5 34915867 34915867 + Silent SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr5:34915867G>A uc003jja.2 + 1 48 c.24G>A c.(22-24)CGG>CGA p.R8R RAD1_uc003jiw.2_5'Flank|RAD1_uc003jix.2_5'Flank|RAD1_uc003jiy.2_Intron|BRIX1_uc003jiz.2_Silent_p.R8R|BRIX1_uc011col.1_Silent_p.R8R NM_018321 NP_060791 Q8TDN6 BRX1_HUMAN BRIX 8 ribosome biogenesis|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|protein binding 0 AGAGGAAACGGCGTGGAGGCT 0.607000 SPEF2 79925 broad.mit.edu 37 5 35727819 35727819 + Missense_Mutation SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr5:35727819A>G uc003jjo.2 + 21 3068 c.2957A>G c.(2956-2958)AAG>AGG p.K986R SPEF2_uc003jjp.1_Missense_Mutation_p.K472R NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 986 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTACCAGTAAAGAAATCACCT 0.398000 SPEF2 79925 broad.mit.edu 37 5 35814620 35814620 + Silent SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr5:35814620A>C uc003jjo.2 + 37 5545 c.5434A>C c.(5434-5436)AGA>CGA p.R1812R SPEF2_uc003jjr.2_Silent_p.R867R NM_024867 NP_079143 Q9C093 SPEF2_HUMAN KPL2 protein isoform 1 1812 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity skin(2)|ovary(1)|central_nervous_system(1) 4 all_lung(31;7.56e-05) Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TGATGGAGAGAGATCACCTTC 0.308000 HSPB3 8988 broad.mit.edu 37 5 53752045 53752045 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr5:53752045A>C uc003jph.1 + 1 601 c.426A>C c.(424-426)GAA>GAC p.E142D NM_006308 NP_006299 Q12988 HSPB3_HUMAN heat shock 27kDa protein 3 142 cell death|response to heat|response to unfolded protein cytoplasm|nucleus 0 Lung NSC(810;0.00104) TGGTGGTGGAAGTAAAGGATC 0.443000 NAIP 4671 broad.mit.edu 37 5 70405051 70405051 + Missense_Mutation SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr5:70405051A>G uc003kat.1 - 1 2813 c.1547T>C c.(1546-1548)TTC>TCC p.F516S NM_022892 NP_075043 Q13075 BIRC1_HUMAN NLR family, apoptosis inhibitory protein isoform 904 anti-apoptosis|apoptosis|nervous system development basolateral plasma membrane|cytoplasm caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding central_nervous_system(1) 1 Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174) TGGGTGGTCGAAAAAGTACTG 0.428000 RASGRF2 5924 broad.mit.edu 37 5 80390141 80390141 + Missense_Mutation SNP C C A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr5:80390141C>A uc003kha.1 + 11 1578 c.1578C>A c.(1576-1578)GAC>GAA p.D526E RASGRF2_uc011ctn.1_RNA NM_006909 NP_008840 O14827 RGRF2_HUMAN Ras protein-specific guanine 526 PH 2. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission cytosol|endoplasmic reticulum membrane|plasma membrane protein binding|Rho guanyl-nucleotide exchange factor activity breast(5)|ovary(3)|large_intestine(2)|central_nervous_system(1)|skin(1) 12 Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357) OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29) CTCTAATAGACTGCACATTGA 0.438000 SLCO4C1 353189 broad.mit.edu 37 5 101631706 101631706 + Silent SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr5:101631706A>C uc003knm.2 - 1 548 c.261T>G c.(259-261)TCT>TCG p.S87S NM_180991 NP_851322 Q6ZQN7 SO4C1_HUMAN solute carrier organic anion transporter family, 87 Cytoplasmic (Potential). cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis basolateral plasma membrane|integral to membrane sodium-independent organic anion transmembrane transporter activity upper_aerodigestive_tract(1)|ovary(1)|central_nervous_system(1)|pancreas(1) 4 all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486) Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986) TCCAGCCGTAAGACCCCTCCT 0.572000 KCNN2 3781 broad.mit.edu 37 5 113822854 113822854 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr5:113822854A>C uc003kqo.2 + 6 1819 c.1362A>C c.(1360-1362)AAA>AAC p.K454N KCNN2_uc003kqp.2_Missense_Mutation_p.K106N|KCNN2_uc010jcg.2_RNA|uc003kqr.1_Intron NM_021614 NP_067627 Q9H2S1 KCNN2_HUMAN small conductance calcium-activated potassium 454 Calmodulin-binding (By similarity). integral to membrane calmodulin binding|small conductance calcium-activated potassium channel activity ovary(2) 2 all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206) OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195) ATCAACGAAAATTCCTGCAAG 0.323000 ACSL6 23305 broad.mit.edu 37 5 131307262 131307262 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr5:131307262C>T uc010jdo.1 - 14 1423 c.1340G>A c.(1339-1341)CGG>CAG p.R447Q ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.R472Q|ACSL6_uc003kvy.1_Missense_Mutation_p.R472Q|ACSL6_uc003kwb.2_Missense_Mutation_p.R437Q|ACSL6_uc003kvz.1_Missense_Mutation_p.R372Q|ACSL6_uc003kwa.1_Missense_Mutation_p.R458Q|ACSL6_uc003kvw.1_Missense_Mutation_p.R93Q|ACSL6_uc010jdn.1_Missense_Mutation_p.R462Q NM_015256 NP_056071 Q9UKU0 ACSL6_HUMAN acyl-CoA synthetase long-chain family member 6 447 Cytoplasmic (Potential). fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane ATP binding|long-chain fatty acid-CoA ligase activity upper_aerodigestive_tract(1)|ovary(1)|skin(1) 3 all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) TAGAGCTGCCCGGAGAAATCC 0.532000 PCDHA6 56142 broad.mit.edu 37 5 140209285 140209285 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr5:140209285G>A uc003lho.2 + 1 1636 c.1609G>A c.(1609-1611)GCG>ACG p.A537T 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_uc011dab.1_Missense_Mutation_p.A537T NM_018909 NP_061732 Q9UN73 PCDA6_HUMAN protocadherin alpha 6 isoform 1 precursor 537 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development extracellular region|integral to plasma membrane calcium ion binding|protein binding haematopoietic_and_lymphoid_tissue(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGGTGAGCGCGCGCGACGC 0.677000 PCDHA8 56140 broad.mit.edu 37 5 140222313 140222313 + Silent SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr5:140222313G>A uc003lhs.2 + 1 1407 c.1407G>A c.(1405-1407)CCG>CCA p.P469P 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_uc003lhr.1_Silent_p.P469P NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 469 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) AGAACAACCCGCCGGGCTGCC 0.672000 PCDHB12 56124 broad.mit.edu 37 5 140589755 140589755 + Missense_Mutation SNP T T A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr5:140589755T>A uc003liz.2 + 1 1465 c.1276T>A c.(1276-1278)TTG>ATG p.L426M PCDHB12_uc011dak.1_Missense_Mutation_p.L89M NM_018932 NP_061755 Q9Y5F1 PCDBC_HUMAN protocadherin beta 12 precursor 426 Extracellular (Potential).|Cadherin 4. homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(2)|ovary(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CGTCACCGACTTGGGGACCCC 0.522000 PCDHGB2 56103 broad.mit.edu 37 5 140741903 140741903 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr5:140741903A>C uc003ljs.1 + 1 2201 c.2201A>C c.(2200-2202)AAG>ACG p.K734T PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGA5_uc003lju.1_5'Flank|PCDHGB2_uc011dar.1_Missense_Mutation_p.K734T|PCDHGA5_uc011das.1_5'Flank NM_018923 NP_061746 Q9Y5G2 PCDGE_HUMAN protocadherin gamma subfamily B, 2 isoform 1 734 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CTCAGCTCCAAGCCTGGACCT 0.527000 KCTD16 57528 broad.mit.edu 37 5 143853664 143853664 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr5:143853664A>C uc003lnm.1 + 4 1903 c.1274A>C c.(1273-1275)AAG>ACG p.K425T KCTD16_uc003lnn.1_Missense_Mutation_p.K425T NM_020768 NP_065819 Q68DU8 KCD16_HUMAN potassium channel tetramerisation domain 425 cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex voltage-gated potassium channel activity large_intestine(2)|ovary(1)|skin(1) 4 all_hematologic(541;0.118) KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176) CTTTTAAGGAAGTATCATCTA 0.358000 SH3TC2 79628 broad.mit.edu 37 5 148424152 148424152 + Missense_Mutation SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr5:148424152A>G uc003lpu.2 - 4 481 c.329T>C c.(328-330)CTC>CCC p.L110P SH3TC2_uc003lpp.1_RNA|SH3TC2_uc003lps.2_5'Flank|SH3TC2_uc003lpt.2_5'UTR|SH3TC2_uc010jgx.2_Missense_Mutation_p.L110P|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_5'UTR|SH3TC2_uc003lpw.1_3'UTR NM_024577 NP_078853 Q8TF17 S3TC2_HUMAN SH3 domain and tetratricopeptide repeats 2 110 binding ovary(2) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GAAGGTGATGAGAAACTGGGC 0.483000 GRIA1 2890 broad.mit.edu 37 5 153149735 153149735 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr5:153149735A>C uc003lva.3 + 13 2395 c.2030A>C c.(2029-2031)AAA>ACA p.K677T GRIA1_uc003luy.3_Missense_Mutation_p.K677T|GRIA1_uc003luz.3_Missense_Mutation_p.K582T|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Missense_Mutation_p.K597T|GRIA1_uc011dcx.1_Missense_Mutation_p.K608T|GRIA1_uc011dcy.1_Missense_Mutation_p.K687T|GRIA1_uc011dcz.1_Missense_Mutation_p.K687T NM_001114183 NP_001107655 P42261 GRIA1_HUMAN glutamate receptor, ionotropic, AMPA 1 isoform 677 Extracellular (Potential). synaptic transmission alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding ovary(4)|skin(2) 6 Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21) Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785) Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CAGAGGTCTAAAATTGCTGTG 0.468000 ITK 3702 broad.mit.edu 37 5 156649893 156649893 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr5:156649893A>C uc003lwo.1 + 6 598 c.516A>C c.(514-516)GAA>GAC p.E172D NM_005546 NP_005537 Q08881 ITK_HUMAN IL2-inducible T-cell kinase 172 SH3. PE -> GS (in Ref. 6; AA sequence). cellular defense response|intracellular signal transduction|T cell receptor signaling pathway cytosol|plasma membrane ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding lung(12)|ovary(8)|skin(4)|stomach(1)|central_nervous_system(1) 26 Renal(175;0.00212) Medulloblastoma(196;0.0354)|all_neural(177;0.1) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) GGGAACCTGAAGAAACTGTGG 0.488000 T SYK peripheral T-cell lymphoma SLIT3 6586 broad.mit.edu 37 5 168671766 168671766 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr5:168671766T>C uc003mab.2 - 3 704 c.284A>G c.(283-285)AAC>AGC p.N95S SLIT3_uc010jjg.2_Missense_Mutation_p.N95S|SLIT3_uc010jji.2_Missense_Mutation_p.N95S NM_003062 NP_003053 O75094 SLIT3_HUMAN slit homolog 3 precursor 95 LRR 2. apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway extracellular space|mitochondrion calcium ion binding|Roundabout binding ovary(3)|skin(1) 4 Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) GCTGACCTGGTTGTCTTCCAG 0.498000 CCHCR1 54535 broad.mit.edu 37 6 31116191 31116191 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr6:31116191G>A uc003nsr.3 - 10 1427 c.1304C>T c.(1303-1305)GCT>GTT p.A435V CCHCR1_uc011dne.1_Missense_Mutation_p.A435V|CCHCR1_uc003nsq.3_Missense_Mutation_p.A488V|CCHCR1_uc003nsp.3_Missense_Mutation_p.A524V|CCHCR1_uc010jsk.1_Missense_Mutation_p.A435V NM_019052 NP_061925 Q8TD31 CCHCR_HUMAN coiled-coil alpha-helical rod protein 1 isoform 435 Potential. cell differentiation|multicellular organismal development cytoplasm|nucleus protein binding skin(1) 1 CCTGCTGACAGCATTGACCAC 0.627000 PBX2 5089 broad.mit.edu 37 6 32156083 32156083 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr6:32156083A>C uc003oav.1 - 3 765 c.494T>G c.(493-495)CTT>CGT p.L165R PBX2_uc003oaw.2_Missense_Mutation_p.L165R NM_002586 NP_002577 P40425 PBX2_HUMAN pre-B-cell leukemia homeobox 2 165 transcription factor binding ovary(1) 1 GATCTGGGCAAGTTTGCTGCG 0.592000 USP49 25862 broad.mit.edu 37 6 41766457 41766457 + Silent SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr6:41766457C>T uc003ori.2 - 7 2103 c.1881G>A c.(1879-1881)GCG>GCA p.A627A NM_018561 NP_061031 Q70CQ1 UBP49_HUMAN ubiquitin thioesterase 49 Error:Variant_position_missing_in_Q70CQ1_after_alignment ubiquitin-dependent protein catabolic process cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding ovary(1)|central_nervous_system(1) 2 Ovarian(28;0.0919)|Colorectal(47;0.121) STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GTAAAGCGCACGCACCTCCCT 0.493000 PRPH2 5961 broad.mit.edu 37 6 42690053 42690053 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr6:42690053T>G uc003osk.2 - 1 306 c.20A>C c.(19-21)AAG>ACG p.K7T NM_000322 NP_000313 P23942 PRPH2_HUMAN peripherin 2 7 Cytoplasmic (Potential). cell adhesion|visual perception integral to membrane ovary(4)|central_nervous_system(1) 5 Colorectal(47;0.196) Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904) CTGGTCAAACTTGACTTTCAG 0.552000 RUNX2 860 broad.mit.edu 37 6 45514961 45514961 + Silent SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr6:45514961C>T uc011dvx.1 + 9 1695 c.1485C>T c.(1483-1485)GAC>GAT p.D495D RUNX2_uc011dvy.1_Silent_p.D473D|RUNX2_uc003oxt.2_Silent_p.D481D NM_001024630 NP_001019801 Q13950 RUNX2_HUMAN runt-related transcription factor 2 isoform a 495 Pro/Ser/Thr-rich. negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent nucleus ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity ovary(2)|skin(1) 3 ATGGTGTTGACGCTGATGGAA 0.493000 PKHD1 5314 broad.mit.edu 37 6 51612651 51612651 + Missense_Mutation SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr6:51612651A>G uc003pah.1 - 58 10039 c.9763T>C c.(9763-9765)TGG>CGG p.W3255R PKHD1_uc010jzn.1_Missense_Mutation_p.W1238R|PKHD1_uc003pai.2_Missense_Mutation_p.W3255R NM_138694 NP_619639 P08F94 PKHD1_HUMAN fibrocystin isoform 1 3255 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 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) TCCTGAGGCCACTGATTTGGT 0.443000 BMP5 653 broad.mit.edu 37 6 55659183 55659183 + Silent SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr6:55659183A>C uc003pcq.2 - 3 1438 c.726T>G c.(724-726)GCT>GCG p.A242A BMP5_uc011dxf.1_Silent_p.A242A NM_021073 NP_066551 P22003 BMP5_HUMAN bone morphogenetic protein 5 preproprotein 242 cartilage development|cell differentiation|growth|ossification extracellular space BMP receptor binding|cytokine activity|growth factor activity ovary(2) 2 Lung NSC(77;0.0462) LUSC - Lung squamous cell carcinoma(124;0.181) CCACATCTAAAGCTTGGGCCT 0.383000 ZNF451 26036 broad.mit.edu 37 6 57013172 57013172 + Silent SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr6:57013172G>A uc003pdm.1 + 10 2513 c.2289G>A c.(2287-2289)CAG>CAA p.Q763Q ZNF451_uc003pdl.2_Silent_p.Q763Q|ZNF451_uc003pdn.1_Silent_p.Q763Q|uc003pdq.1_Intron|ZNF451_uc003pdk.1_Silent_p.Q763Q NM_001031623 NP_001026794 Q9Y4E5 ZN451_HUMAN zinc finger protein 451 isoform 1 763 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(1)|pancreas(1) 2 Lung NSC(77;0.145) LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13) CAACAGCACAGAATTTAACCG 0.418000 COL12A1 1303 broad.mit.edu 37 6 75844528 75844528 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr6:75844528A>C uc003phs.2 - 32 5604 c.5438T>G c.(5437-5439)CTG>CGG p.L1813R COL12A1_uc003pht.2_Missense_Mutation_p.L649R NM_004370 NP_004361 Q99715 COCA1_HUMAN collagen, type XII, alpha 1 long isoform 1813 Fibronectin type-III 13. cell adhesion|collagen fibril organization|skeletal system development collagen type XII|extracellular space extracellular matrix structural constituent conferring tensile strength ovary(6)|large_intestine(1)|breast(1)|skin(1) 9 GTCTGGCTTCAGTTTCTGCAG 0.493000 GPRC6A 222545 broad.mit.edu 37 6 117130660 117130660 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr6:117130660T>G uc003pxj.1 - 2 337 c.315A>C c.(313-315)GAA>GAC p.E105D GPRC6A_uc003pxk.1_Missense_Mutation_p.E105D|GPRC6A_uc003pxl.1_Missense_Mutation_p.E105D NM_148963 NP_683766 Q5T6X5 GPC6A_HUMAN G protein-coupled receptor, family C, group 6, 105 Extracellular (Potential). response to amino acid stimulus G-protein coupled receptor activity ovary(4)|skin(2) 6 all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234) GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07) CCACTGTGACTTCTGTACAAG 0.418000 SLC35F1 222553 broad.mit.edu 37 6 118635300 118635300 + Missense_Mutation SNP G G A rs138680595 byFrequency TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr6:118635300G>A uc003pxx.3 + 8 1313 c.1112G>A c.(1111-1113)CGC>CAC p.R371H SLC35F1_uc003pxy.1_Missense_Mutation_p.R176H NM_001029858 NP_001025029 Q5T1Q4 S35F1_HUMAN solute carrier family 35, member F1 371 transport integral to membrane breast(1) 1 GBM - Glioblastoma multiforme(226;0.217) AAGCAGTTCCGCAATCCTTCA 0.557000 C6orf174 387104 broad.mit.edu 37 6 127834069 127834069 + Silent SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr6:127834069T>C uc003qbd.2 - 4 2317 c.1452A>G c.(1450-1452)CAA>CAG p.Q484Q NM_001012279 NP_001012279 Q5TF21 CF174_HUMAN hypothetical protein LOC387104 precursor 484 Potential. integral to membrane breast(3)|ovary(2)|skin(1) 6 GBM - Glioblastoma multiforme(226;0.026)|all cancers(137;0.161) TCTGTAAAGCTTGCTTTGCAA 0.328000 UTRN 7402 broad.mit.edu 37 6 144768817 144768817 + Missense_Mutation SNP T T G rs116045799 by1000genomes TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr6:144768817T>G uc003qkt.2 + 15 1894 c.1802T>G c.(1801-1803)CTT>CGT p.L601R UTRN_uc010khq.1_Missense_Mutation_p.L601R NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 601 Interaction with SYNM.|Spectrin 4. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) GGACAATTACTTGATAATTCC 0.398000 UTRN 7402 broad.mit.edu 37 6 144801062 144801062 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr6:144801062C>T uc003qkt.2 + 25 3543 c.3451C>T c.(3451-3453)CGG>TGG p.R1151W UTRN_uc010khq.1_Missense_Mutation_p.R1151W NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1151 Spectrin 8. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) ATATTTGGAGCGGGATTTTGA 0.507000 UTRN 7402 broad.mit.edu 37 6 144832238 144832238 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr6:144832238A>C uc003qkt.2 + 34 5015 c.4923A>C c.(4921-4923)GAA>GAC p.E1641D NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1641 Interaction with SYNM.|Spectrin 11. muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane actin binding|calcium ion binding|zinc ion binding ovary(4)|pancreas(1) 5 Ovarian(120;0.218) OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213) CCTGGACTGAAGATTGGTGCA 0.418000 FBXO30 84085 broad.mit.edu 37 6 146125620 146125620 + Missense_Mutation SNP T T A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr6:146125620T>A uc003qla.2 - 2 2121 c.1922A>T c.(1921-1923)AAG>ATG p.K641M uc003qky.1_Intron NM_032145 NP_115521 Q8TB52 FBX30_HUMAN F-box only protein 30 641 ubiquitin-protein ligase activity|zinc ion binding ovary(2)|large_intestine(1) 3 Ovarian(120;0.0776) OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149) CCTCATTAACTTGGATACACA 0.463000 SYNE1 23345 broad.mit.edu 37 6 152590341 152590341 + Silent SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr6:152590341T>C uc010kiw.2 - 99 19256 c.18654A>G c.(18652-18654)CAA>CAG p.Q6218Q SYNE1_uc010kiv.2_Silent_p.Q742Q|SYNE1_uc003qos.3_Silent_p.Q742Q|SYNE1_uc003qot.3_Silent_p.Q6147Q|SYNE1_uc003qou.3_Silent_p.Q6218Q NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 6218 Cytoplasmic (Potential). cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) TGGTGCGAGCTTGGGCCAGCC 0.557000 HNSCC(10;0.0054) RGS17 26575 broad.mit.edu 37 6 153332885 153332885 + Missense_Mutation SNP A A T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr6:153332885A>T uc003qpm.2 - 5 613 c.457T>A c.(457-459)TCT>ACT p.S153T NM_012419 NP_036551 Q9UGC6 RGS17_HUMAN regulator of G-protein signalling 17 153 RGS. negative regulation of signal transduction cytoplasm|nucleus|plasma membrane GTPase activator activity|signal transducer activity pancreas(1) 1 Ovarian(120;0.126) OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429) CTAACTCGAGAATCAAGACTG 0.328000 Lung_Cancer_Familial_Clustering_of T 6862 broad.mit.edu 37 6 166571913 166571913 + Missense_Mutation SNP G G T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr6:166571913G>T uc003quu.1 - 9 1691 c.1198C>A c.(1198-1200)CTG>ATG p.L400M T_uc003qut.1_Missense_Mutation_p.L401M|T_uc003quv.1_Missense_Mutation_p.L342M NM_003181 NP_003172 O15178 BRAC_HUMAN transcription factor T 400 anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation nucleus sequence-specific DNA binding transcription factor activity ovary(1)|pancreas(1) 2 Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559) OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407) CCTTCGTACAGTGGGGATCCC 0.692000 Chordoma_Familial_Clustering_of DNAH11 8701 broad.mit.edu 37 7 21603831 21603831 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:21603831T>G uc003svc.2 + 6 1041 c.1010T>G c.(1009-1011)CTT>CGT p.L337R NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 337 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 GATGTGGAACTTTACCTGAGA 0.408000 Kartagener_syndrome DNAH11 8701 broad.mit.edu 37 7 21630894 21630894 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:21630894T>G uc003svc.2 + 14 2397 c.2366T>G c.(2365-2367)CTG>CGG p.L789R NM_003777 NP_003768 Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 789 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 GAAGATGAGCTGAGGGCTATT 0.512000 Kartagener_syndrome HOXA11 3207 broad.mit.edu 37 7 27224672 27224672 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:27224672G>A uc003syx.2 - 1 164 c.92C>T c.(91-93)CCT>CTT p.P31L HOXA11_uc003syy.2_Intron|HOXA11AS_uc003syz.1_5'Flank NM_005523 NP_005514 P31270 HXA11_HUMAN homeobox A11 31 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|breast(1) 2 CAGAAAAGAAGGGAGGCTGGA 0.537000 T NUP98 CML OREG0003747 type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay HOXA11 3207 broad.mit.edu 37 7 27224674 27224674 + Silent SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:27224674G>A uc003syx.2 - 1 162 c.90C>T c.(88-90)CTC>CTT p.L30L HOXA11_uc003syy.2_Intron|HOXA11AS_uc003syz.1_5'Flank NM_005523 NP_005514 P31270 HXA11_HUMAN homeobox A11 30 branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation protein-DNA complex|transcription factor complex sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(1)|breast(1) 2 GAAAAGAAGGGAGGCTGGAGA 0.537000 T NUP98 CML OREG0003747 type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay CCM2 83605 broad.mit.edu 37 7 45078002 45078002 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:45078002G>A uc003tmo.2 + 2 327 c.181G>A c.(181-183)GAC>AAC p.D61N CCM2_uc003tmn.2_RNA|CCM2_uc003tmp.2_Intron|CCM2_uc003tmq.2_RNA|CCM2_uc003tmr.2_Missense_Mutation_p.D61N|CCM2_uc011kcb.1_Intron|CCM2_uc011kcc.1_Missense_Mutation_p.D82N|CCM2_uc003tms.2_Missense_Mutation_p.D82N NM_031443 NP_113631 Q9BSQ5 CCM2_HUMAN cerebral cavernous malformation 2 isoform 2 61 PID. endothelial tube morphogenesis|integrin-mediated signaling pathway|stress-activated MAPK cascade|vasculogenesis cytoplasm protein binding 0 ACTGCTGAGCGACTATATTGA 0.532000 Familial_Cerebral_Cavernous_Angioma AUTS2 26053 broad.mit.edu 37 7 69364348 69364348 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:69364348T>G uc003tvw.3 + 2 1129 c.386T>G c.(385-387)CTT>CGT p.L129R AUTS2_uc003tvv.3_Missense_Mutation_p.L129R|AUTS2_uc003tvx.3_Missense_Mutation_p.L129R NM_015570 NP_056385 Q8WXX7 AUTS2_HUMAN autism susceptibility candidate 2 isoform 1 129 ovary(2)|central_nervous_system(1) 3 all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093) LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186) CGAGAAGCACTTACCAATGGC 0.483000 WBSCR17 64409 broad.mit.edu 37 7 70886007 70886007 + Missense_Mutation SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:70886007A>G uc003tvy.2 + 5 878 c.878A>G c.(877-879)CAC>CGC p.H293R WBSCR17_uc003tvz.2_5'UTR NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 293 Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) AACTCGGCCCACGGGTACAGC 0.582000 WBSCR17 64409 broad.mit.edu 37 7 70886090 70886090 + Missense_Mutation SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:70886090A>G uc003tvy.2 + 5 961 c.961A>G c.(961-963)AGG>GGG p.R321G WBSCR17_uc003tvz.2_Missense_Mutation_p.R20G NM_022479 NP_071924 Q6IS24 GLTL3_HUMAN UDP-GalNAc:polypeptide 321 Catalytic subdomain B.|Lumenal (Potential). Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding skin(3)|upper_aerodigestive_tract(1)|ovary(1)|pancreas(1)|central_nervous_system(1) 7 all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125) TCTCCCCATCAGGTCTGTGGC 0.607000 PCLO 27445 broad.mit.edu 37 7 82387919 82387919 + Missense_Mutation SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:82387919A>G uc003uhx.2 - 25 15690 c.15401T>C c.(15400-15402)CTT>CCT p.L5134P NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 5057 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ACTGACCAAAAGTTTGTGCCA 0.388000 PCLO 27445 broad.mit.edu 37 7 82545548 82545548 + Silent SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:82545548T>C uc003uhx.2 - 7 12043 c.11754A>G c.(11752-11754)CAA>CAG p.Q3918Q PCLO_uc003uhv.2_Silent_p.Q3918Q|PCLO_uc010lec.2_Silent_p.Q883Q NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3849 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AAGGTGAAACTTGCTGATGGT 0.463000 PCLO 27445 broad.mit.edu 37 7 82545671 82545671 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:82545671T>G uc003uhx.2 - 7 11920 c.11631A>C c.(11629-11631)CAA>CAC p.Q3877H PCLO_uc003uhv.2_Missense_Mutation_p.Q3877H|PCLO_uc010lec.2_Missense_Mutation_p.Q842H NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3808 Gln-rich. cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GAGGAACTAGTTGAGATTCTG 0.473000 AKAP9 10142 broad.mit.edu 37 7 91708757 91708757 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:91708757G>A uc003ulg.2 + 31 7535 c.7310G>A c.(7309-7311)CGT>CAT p.R2437H AKAP9_uc003ulf.2_Missense_Mutation_p.R2429H|AKAP9_uc003uli.2_Missense_Mutation_p.R2060H|AKAP9_uc003ulj.2_Missense_Mutation_p.R207H NM_005751 NP_005742 Q99996 AKAP9_HUMAN A-kinase anchor protein 9 isoform 2 2449 Potential.|Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1) 26 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) AAGAGAGAACGTGAAAGTGTG 0.348000 T BRAF papillary thyroid CDK6 1021 broad.mit.edu 37 7 92355004 92355004 + Missense_Mutation SNP T T A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:92355004T>A uc011khw.1 - 4 885 c.473A>T c.(472-474)CAA>CTA p.Q158L CDK6_uc010lez.2_Missense_Mutation_p.Q158L NM_001259 NP_001250 Q00534 CDK6_HUMAN cyclin-dependent kinase 6 158 Protein kinase. cell dedifferentiation|cell division|G1 phase of mitotic cell cycle|gliogenesis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|negative regulation of osteoblast differentiation|positive regulation of cell-matrix adhesion|positive regulation of fibroblast proliferation|regulation of erythrocyte differentiation|regulation of gene expression|response to virus cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleus|ruffle ATP binding|cyclin binding|cyclin-dependent protein kinase activity central_nervous_system(1)|skin(1) 2 all_cancers(62;8.72e-12)|all_epithelial(64;3.65e-10)|Breast(17;0.000675)|all_lung(186;0.0392)|Lung NSC(181;0.053)|all_neural(327;0.219)|all_hematologic(106;0.237) STAD - Stomach adenocarcinoma(4;6.16e-07)|GBM - Glioblastoma multiforme(5;1.2e-06)|all cancers(6;3.1e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23) GAGTTTTATTTGTCCGCTGCT 0.463000 T MLLT10 ALL PPP1R9A 55607 broad.mit.edu 37 7 94540772 94540772 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:94540772A>C uc003unp.2 + 2 1629 c.1347A>C c.(1345-1347)GAA>GAC p.E449D PPP1R9A_uc010lfj.2_Missense_Mutation_p.E449D|PPP1R9A_uc011kif.1_Missense_Mutation_p.E449D|PPP1R9A_uc003unq.2_Missense_Mutation_p.E449D|PPP1R9A_uc011kig.1_Missense_Mutation_p.E449D NM_017650 NP_060120 Q9ULJ8 NEB1_HUMAN protein phosphatase 1, regulatory (inhibitor) 449 Poly-Glu.|Interacts with protein phosphatase 1 (By similarity). cell junction|synapse|synaptosome actin binding ovary(2)|haematopoietic_and_lymphoid_tissue(1)|skin(1) 4 all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09) STAD - Stomach adenocarcinoma(171;0.0031) CAGAAGAAGAAGAAATCCCAG 0.383000 HNSCC(28;0.073) ZNF498 221785 broad.mit.edu 37 7 99217362 99217362 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:99217362T>G uc003url.1 + 4 460 c.133T>G c.(133-135)TTT>GTT p.F45V ZNF498_uc003urm.1_5'UTR|ZNF498_uc010lge.1_5'UTR|ZNF498_uc003urn.2_RNA|ZNF498_uc010lgf.1_Missense_Mutation_p.F45V|ZNF498_uc003uro.1_5'Flank NM_145115 NP_660090 Q6NSZ9 ZN498_HUMAN zinc finger and SCAN domain containing 25 45 SCAN box. viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 all_epithelial(64;1.95e-08)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166) TCGGCTGAGGTTTCGGCAGTT 0.587000 STAG3 10734 broad.mit.edu 37 7 99796118 99796118 + Missense_Mutation SNP C C T rs147690401 TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:99796118C>T uc003utx.1 + 13 1420 c.1265C>T c.(1264-1266)ACG>ATG p.T422M STAG3_uc010lgs.1_Missense_Mutation_p.T210M|STAG3_uc011kjk.1_Missense_Mutation_p.T364M|STAG3_uc003uub.1_5'Flank NM_012447 NP_036579 Q9UJ98 STAG3_HUMAN stromal antigen 3 422 chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding ovary(4)|skin(2)|lung(1)|kidney(1) 8 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGGTGCTGACGGACGCGGAT 0.532000 RELN 5649 broad.mit.edu 37 7 103294587 103294587 + Silent SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:103294587T>G uc003vca.2 - 13 1667 c.1507A>C c.(1507-1509)AGA>CGA p.R503R RELN_uc010liz.2_Silent_p.R503R NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 503 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity ovary(8)|upper_aerodigestive_tract(5)|large_intestine(2)|central_nervous_system(2)|skin(1)|pancreas(1) 19 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) TGCTCTTTTCTTCCTTCAATT 0.393000 PRKAR2B 5577 broad.mit.edu 37 7 106793689 106793689 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:106793689T>C uc003vdx.2 + 8 1086 c.911T>C c.(910-912)ATT>ACT p.I304T NM_002736 NP_002727 P31323 KAP3_HUMAN cAMP-dependent protein kinase, regulatory 304 cAMP 2. activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport centrosome|cytosol|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity ovary(1) 1 GAACAAATCATTGCTCAGGTA 0.303000 LAMB4 22798 broad.mit.edu 37 7 107732089 107732089 + Silent SNP G G T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:107732089G>T uc010ljo.1 - 14 1767 c.1683C>A c.(1681-1683)CTC>CTA p.L561L LAMB4_uc003vey.2_Silent_p.L561L NM_007356 NP_031382 A4D0S4 LAMB4_HUMAN laminin, beta 4 precursor 561 Laminin IV type B. cell adhesion basement membrane ovary(4)|breast(2)|large_intestine(1)|skin(1) 8 CCAGTCCTTGGAGTGTTGTGG 0.458000 TAS2R16 50833 broad.mit.edu 37 7 122635486 122635486 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:122635486A>C uc003vkl.1 - 1 269 c.203T>G c.(202-204)TTT>TGT p.F68C NM_016945 NP_058641 Q9NYV7 T2R16_HUMAN taste receptor T2R16 68 Extracellular (Potential). detection of chemical stimulus involved in sensory perception of bitter taste endoplasmic reticulum|external side of plasma membrane|trans-Golgi network bitter taste receptor activity|protein binding ovary(1)|skin(1) 2 ATAGGAGCAAAAATTGTTCAG 0.408000 OR2A12 346525 broad.mit.edu 37 7 143792445 143792445 + Missense_Mutation SNP C C A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:143792445C>A uc011kty.1 + 1 245 c.245C>A c.(244-246)GCA>GAA p.A82E NM_001004135 NP_001004135 Q8NGT7 O2A12_HUMAN olfactory receptor, family 2, subfamily A, 82 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1) 3 Melanoma(164;0.0783) AAGATGCTAGCAAATCTTGTG 0.438000 CNTNAP2 26047 broad.mit.edu 37 7 147092834 147092834 + Silent SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr7:147092834C>T uc003weu.1 + 10 2148 c.1632C>T c.(1630-1632)TTC>TTT p.F544F NM_014141 NP_054860 Q9UHC6 CNTP2_HUMAN cell recognition molecule Caspr2 precursor 544 Extracellular (Potential).|Laminin G-like 2. behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex receptor binding ovary(9)|central_nervous_system(1)|pancreas(1) 11 Melanoma(164;0.153) all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794) OV - Ovarian serous cystadenocarcinoma(82;0.0319) CGGGAAGTTTCGCGAATGTCA 0.438000 HNSCC(39;0.1) RP1L1 94137 broad.mit.edu 37 8 10465425 10465425 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:10465425T>G uc003wtc.2 - 4 6412 c.6183A>C c.(6181-6183)GAA>GAC p.E2061D NM_178857 NP_849188 Q8IWN7 RP1L1_HUMAN retinitis pigmentosa 1-like 1 2061 intracellular signal transduction ovary(4)|breast(3)|central_nervous_system(1) 8 COAD - Colon adenocarcinoma(149;0.0811) GTGCCTCCTCTTCTGCCTCCG 0.627000 USP17L2 377630 broad.mit.edu 37 8 11994773 11994773 + Silent SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:11994773G>A uc003wvc.1 - 1 1497 c.1497C>T c.(1495-1497)TCC>TCT p.S499S FAM66D_uc011kxp.1_Intron|FAM66D_uc011kxo.1_Intron NM_201402 NP_958804 Q6R6M4 U17L2_HUMAN deubiquitinating enzyme 3 499 apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process nucleus ubiquitin thiolesterase activity|ubiquitin-specific protease activity skin(2)|upper_aerodigestive_tract(1) 3 CAGTGTTCACGGACTCCTGAT 0.512000 DLC1 10395 broad.mit.edu 37 8 12946131 12946131 + Missense_Mutation SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:12946131A>G uc003wwm.2 - 16 4601 c.4157T>C c.(4156-4158)CTT>CCT p.L1386P DLC1_uc003wwk.1_Missense_Mutation_p.L949P|DLC1_uc003wwl.1_Missense_Mutation_p.L983P|DLC1_uc011kxx.1_Missense_Mutation_p.L875P NM_182643 NP_872584 Q96QB1 RHG07_HUMAN deleted in liver cancer 1 isoform 1 1386 START. actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction caveola|cytosol|focal adhesion|nucleus Rho GTPase activator activity|SH2 domain binding ovary(3)|pancreas(2)|lung(1)|kidney(1) 7 CTGTTCTTTAAGTAGGCGCTT 0.458000 EFHA2 286097 broad.mit.edu 37 8 16921715 16921715 + Silent SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:16921715T>C uc003wxd.2 + 2 546 c.504T>C c.(502-504)TTT>TTC p.F168F NM_181723 NP_859074 Q86XE3 EFHA2_HUMAN EF-hand domain family, member A2 168 integral to membrane calcium ion binding skin(1) 1 Colorectal(111;0.0686)|COAD - Colon adenocarcinoma(73;0.239) CGTATGATTTTATTTTGGCTG 0.348000 LPL 4023 broad.mit.edu 37 8 19813350 19813350 + Splice_Site SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:19813350A>G uc003wzk.3 + 6 1146 c.776_splice c.e6-2 p.D259_splice NM_000237 NP_000228 P06858 LIPL_HUMAN lipoprotein lipase precursor fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity ovary(1)|central_nervous_system(1)|pancreas(1) 3 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) TTTTTTACCCAGATGTGGACC 0.433000 GFRA2 2675 broad.mit.edu 37 8 21562635 21562635 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:21562635A>C uc003wzu.1 - 6 1582 c.907T>G c.(907-909)TTT>GTT p.F303V GFRA2_uc003wzv.1_Missense_Mutation_p.F198V|GFRA2_uc003wzw.1_Missense_Mutation_p.F170V NM_001495 NP_001486 O00451 GFRA2_HUMAN GDNF family receptor alpha 2 isoform a 303 anchored to membrane|extrinsic to membrane|plasma membrane glial cell-derived neurotrophic factor receptor activity 0 Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727) GTCATGTCAAACCCTGGGCAG 0.632000 SORBS3 10174 broad.mit.edu 37 8 22428560 22428560 + Silent SNP C C T rs146729720 TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:22428560C>T uc003xbv.2 + 18 1909 c.1569C>T c.(1567-1569)GAC>GAT p.D523D SORBS3_uc003xbw.3_Silent_p.D181D NM_005775 NP_005766 O60504 VINEX_HUMAN sorbin and SH3 domain containing 3 isoform 1 523 muscle contraction|positive regulation of stress fiber assembly cytoskeleton|cytosol|nucleus protein binding|structural constituent of cytoskeleton|vinculin binding 0 Prostate(55;0.0421)|Breast(100;0.102) BRCA - Breast invasive adenocarcinoma(99;0.00566)|Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061) TCTGTGACGACGGCCCCCAGC 0.711000 FZD3 7976 broad.mit.edu 37 8 28385541 28385541 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:28385541G>A uc003xgx.2 + 5 1742 c.1264G>A c.(1264-1266)GGT>AGT p.G422S FZD3_uc010lvb.2_Missense_Mutation_p.G422S NM_017412 NP_059108 Q9NPG1 FZD3_HUMAN frizzled 3 precursor 422 Helical; Name=6; (Potential). canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) GATCCGGATCGGTGTTTTCAG 0.403000 FZD3 7976 broad.mit.edu 37 8 28385645 28385645 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:28385645A>C uc003xgx.2 + 5 1846 c.1368A>C c.(1366-1368)GAA>GAC p.E456D FZD3_uc010lvb.2_Missense_Mutation_p.E456D NM_017412 NP_059108 Q9NPG1 FZD3_HUMAN frizzled 3 precursor 456 Extracellular (Potential). canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding ovary(1)|central_nervous_system(1) 2 Ovarian(32;2.06e-05) KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23) GGATACAAGAACGCTGCAGAG 0.368000 GPR124 25960 broad.mit.edu 37 8 37697060 37697060 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:37697060T>G uc003xkj.2 + 16 2794 c.2431T>G c.(2431-2433)TTG>GTG p.L811V GPR124_uc010lvy.2_Missense_Mutation_p.L594V NM_032777 NP_116166 Q96PE1 GP124_HUMAN G protein-coupled receptor 124 precursor 811 Helical; Name=2; (Potential). central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis integral to membrane|plasma membrane G-protein coupled receptor activity large_intestine(2)|ovary(2)|skin(1) 5 BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10) GCTGCTGAACTTGTGCTTCCA 0.587000 PXDNL 137902 broad.mit.edu 37 8 52321900 52321900 + Missense_Mutation SNP G G A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:52321900G>A uc003xqu.3 - 17 2385 c.2284C>T c.(2284-2286)CGC>TGC p.R762C PXDNL_uc003xqt.3_RNA NM_144651 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog-like precursor 762 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity ovary(1)|pancreas(1) 2 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CGGGGCGCGCGGATGCCGTCC 0.791000 PREX2 80243 broad.mit.edu 37 8 69012014 69012014 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:69012014A>C uc003xxv.1 + 23 2678 c.2651A>C c.(2650-2652)AAA>ACA p.K884T PREX2_uc003xxu.1_Missense_Mutation_p.K884T|PREX2_uc011lez.1_Missense_Mutation_p.K819T NM_024870 NP_079146 Q70Z35 PREX2_HUMAN DEP domain containing 2 isoform a 884 G-protein coupled receptor protein signaling pathway|intracellular signal transduction intracellular protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1) 17 CTTCAGAGTAAATTCAGTGCC 0.348000 OSR2 116039 broad.mit.edu 37 8 99961704 99961704 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:99961704A>C uc003yir.2 + 2 1059 c.524A>C c.(523-525)AAG>ACG p.K175T OSR2_uc010mbn.2_Missense_Mutation_p.K175T|OSR2_uc003yiq.2_Missense_Mutation_p.K175T|OSR2_uc011lgx.1_Missense_Mutation_p.K296T NM_001142462 NP_001135934 Q8N2R0 OSR2_HUMAN odd-skipped related 2 isoform a 175 C2H2-type 1. bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter nucleus sequence-specific DNA binding|zinc ion binding p.K175R(1) central_nervous_system(1) 1 Breast(36;4.14e-07) OV - Ovarian serous cystadenocarcinoma(57;0.0136) TTTATCTGCAAGTTTTGCGGC 0.522000 RIMS2 9699 broad.mit.edu 37 8 104898096 104898096 + Silent SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:104898096T>G uc003yls.2 + 2 844 c.603T>G c.(601-603)TCT>TCG p.S201S RIMS2_uc003ylp.2_Silent_p.S423S|RIMS2_uc003ylw.2_Silent_p.S231S|RIMS2_uc003ylq.2_Silent_p.S231S|RIMS2_uc003ylr.2_Silent_p.S231S NM_014677 NP_055492 Q9UQ26 RIMS2_HUMAN regulating synaptic membrane exocytosis 2 454 intracellular protein transport cell junction|presynaptic membrane metal ion binding|Rab GTPase binding p.S231S(1) ovary(6)|lung(2)|breast(2)|skin(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 15 OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229) GACCAAGTTCTTATGCACAAA 0.478000 HNSCC(12;0.0054) ZFPM2 23414 broad.mit.edu 37 8 106813816 106813816 + Silent SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:106813816T>G uc003ymd.2 + 8 1529 c.1506T>G c.(1504-1506)TCT>TCG p.S502S ZFPM2_uc011lhs.1_Silent_p.S233S NM_012082 NP_036214 Q8WW38 FOG2_HUMAN zinc finger protein, multitype 2 502 blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis nucleoplasm DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding ovary(4)|large_intestine(1) 5 OV - Ovarian serous cystadenocarcinoma(57;8.28e-08) CTCAGTTTTCTTTCCCCCAAG 0.493000 OXR1 55074 broad.mit.edu 37 8 107718983 107718983 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:107718983A>C uc011lht.1 + 8 1336 c.1237A>C c.(1237-1239)ACT>CCT p.T413P OXR1_uc003ymf.2_Missense_Mutation_p.T412P|OXR1_uc011lhu.1_Missense_Mutation_p.T405P|OXR1_uc010mcg.2_Intron|OXR1_uc010mch.2_Missense_Mutation_p.T110P|OXR1_uc003ymg.1_Missense_Mutation_p.T345P|OXR1_uc003ymi.1_Missense_Mutation_p.T324P NM_018002 NP_060472 Q8N573 OXR1_HUMAN oxidation resistance 1 isoform 1 413 cell wall macromolecule catabolic process|response to oxidative stress mitochondrion 0 OV - Ovarian serous cystadenocarcinoma(57;1.81e-09) ATGTCATAAAACTGATTTAAA 0.348000 SNTB1 6641 broad.mit.edu 37 8 121823876 121823876 + Silent SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:121823876T>G uc010mdg.2 - 1 434 c.208A>C c.(208-210)AGG>CGG p.R70R SNTB1_uc003ype.2_Silent_p.R70R NM_021021 NP_066301 Q13884 SNTB1_HUMAN basic beta 1 syntrophin 70 PH 1. muscle contraction cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma actin binding|calmodulin binding skin(5) 5 Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997) STAD - Stomach adenocarcinoma(47;0.00503) ccggcgccccTGCAGAACGAG 0.448000 TG 7038 broad.mit.edu 37 8 133953600 133953600 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:133953600A>C uc003ytw.2 + 26 5087 c.5046A>C c.(5044-5046)CAA>CAC p.Q1682H TG_uc010mdw.2_Missense_Mutation_p.Q441H|TG_uc011ljb.1_Intron NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1682 Type IIIA. 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) CCCCAGGCCAAGGATCCACCA 0.458000 TG 7038 broad.mit.edu 37 8 133961049 133961049 + Silent SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:133961049A>C uc003ytw.2 + 27 5303 c.5262A>C c.(5260-5262)TCA>TCC p.S1754S TG_uc010mdw.2_Silent_p.S513S|TG_uc011ljb.1_Silent_p.S123S NM_003235 NP_003226 P01266 THYG_HUMAN thyroglobulin precursor 1754 Type IIIB. 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) TGCTGAGCTCACCCAGTGTCC 0.527000 PLEC 5339 broad.mit.edu 37 8 144991805 144991805 + Missense_Mutation SNP G G T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:144991805G>T uc003zaf.1 - 32 12765 c.12595C>A c.(12595-12597)CCC>ACC p.P4199T PLEC_uc003zab.1_Missense_Mutation_p.P4062T|PLEC_uc003zac.1_Missense_Mutation_p.P4066T|PLEC_uc003zad.2_Missense_Mutation_p.P4062T|PLEC_uc003zae.1_Missense_Mutation_p.P4030T|PLEC_uc003zag.1_Missense_Mutation_p.P4040T|PLEC_uc003zah.2_Missense_Mutation_p.P4048T|PLEC_uc003zaj.2_Missense_Mutation_p.P4089T NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 4199 Plectin 25.|Globular 2. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 ACCTCCACGGGCAGCCGGTGG 0.627000 PLEC 5339 broad.mit.edu 37 8 144997653 144997653 + Silent SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:144997653C>T uc003zaf.1 - 31 7025 c.6855G>A c.(6853-6855)CGG>CGA p.R2285R PLEC_uc003zab.1_Silent_p.R2148R|PLEC_uc003zac.1_Silent_p.R2152R|PLEC_uc003zad.2_Silent_p.R2148R|PLEC_uc003zae.1_Silent_p.R2116R|PLEC_uc003zag.1_Silent_p.R2126R|PLEC_uc003zah.2_Silent_p.R2134R|PLEC_uc003zaj.2_Silent_p.R2175R NM_201380 NP_958782 Q15149 PLEC_HUMAN plectin isoform 1 2285 Central fibrous rod domain.|Potential. cellular component disassembly involved in apoptosis|hemidesmosome assembly cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma actin binding|structural constituent of muscle|structural constituent of muscle large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1) 9 CCTGTGCCCGCCGCGCCGCCT 0.687000 EXOSC4 54512 broad.mit.edu 37 8 145135310 145135310 + Missense_Mutation SNP G G C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr8:145135310G>C uc003zau.2 + 3 654 c.544G>C c.(544-546)GGC>CGC p.G182R GPAA1_uc003zav.1_5'Flank|GPAA1_uc003zaw.1_5'Flank|GPAA1_uc003zax.2_5'Flank NM_019037 NP_061910 Q9NPD3 EXOS4_HUMAN exosome component 4 182 DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear mRNA surveillance|positive regulation of cell growth cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5'-exoribonuclease activity|AU-rich element binding|protein binding 0 all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.48e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) AGCAGCTGGTGGCCCCCAGCT 0.652000 C9orf93 203238 broad.mit.edu 37 9 15779060 15779060 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr9:15779060C>T uc003zmd.2 + 20 3308 c.2993C>T c.(2992-2994)ACA>ATA p.T998I C9orf93_uc003zme.2_Missense_Mutation_p.T913I|C9orf93_uc011lmu.1_Missense_Mutation_p.T1006I|C9orf93_uc003zmf.1_Missense_Mutation_p.T306I NM_173550 NP_775821 Q6TFL3 CI093_HUMAN hypothetical protein LOC203238 998 Potential. 0 GBM - Glioblastoma multiforme(50;4.84e-07) TTAGAGGTCACAGAATTCAAA 0.413000 TRPM3 80036 broad.mit.edu 37 9 73205969 73205969 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr9:73205969T>G uc004aid.2 - 21 3409 c.3165A>C c.(3163-3165)GAA>GAC p.E1055D TRPM3_uc004ahu.2_Missense_Mutation_p.E885D|TRPM3_uc004ahv.2_Missense_Mutation_p.E857D|TRPM3_uc004ahw.2_Missense_Mutation_p.E927D|TRPM3_uc004ahx.2_Missense_Mutation_p.E914D|TRPM3_uc004ahy.2_Missense_Mutation_p.E917D|TRPM3_uc004ahz.2_Missense_Mutation_p.E904D|TRPM3_uc004aia.2_Missense_Mutation_p.E902D|TRPM3_uc004aib.2_Missense_Mutation_p.E892D|TRPM3_uc004aic.2_Missense_Mutation_p.E1055D NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 1080 Extracellular (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 CCGCAAACACTTCCCCATAAA 0.423000 COL15A1 1306 broad.mit.edu 37 9 101818614 101818614 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr9:101818614T>G uc004azb.1 + 35 3471 c.3265T>G c.(3265-3267)TTT>GTT p.F1089V NM_001855 NP_001846 P39059 COFA1_HUMAN alpha 1 type XV collagen precursor 1089 Triple-helical region 8 (COL8). angiogenesis|cell differentiation|signal transduction collagen type XV|extracellular space|integral to membrane binding ovary(6) 6 Acute lymphoblastic leukemia(62;0.0562) GCCACCTGGCTTTGGAAGACC 0.627000 INVS 27130 broad.mit.edu 37 9 103002501 103002501 + Missense_Mutation SNP C C A TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr9:103002501C>A uc004bap.1 + 6 987 c.775C>A c.(775-777)CTG>ATG p.L259M INVS_uc010mta.1_Missense_Mutation_p.L163M|INVS_uc011lve.1_Missense_Mutation_p.L163M|INVS_uc004bao.1_Missense_Mutation_p.L259M|INVS_uc004baq.1_Missense_Mutation_p.L163M|INVS_uc004bar.1_Missense_Mutation_p.L163M|INVS_uc010mtb.1_Translation_Start_Site NM_014425 NP_055240 Q9Y283 INVS_HUMAN inversin isoform a 259 ANK 8. negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway cytoplasm|membrane|microtubule|nucleus|spindle calmodulin binding ovary(2) 2 Acute lymphoblastic leukemia(62;0.056) TCGAACCCCACTGCACTGGGC 0.413000 GRIN3A 116443 broad.mit.edu 37 9 104390538 104390538 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr9:104390538T>C uc004bbp.1 - 4 3099 c.2498A>G c.(2497-2499)AAG>AGG p.K833R GRIN3A_uc004bbq.1_Missense_Mutation_p.K833R NM_133445 NP_597702 Q8TCU5 NMD3A_HUMAN glutamate receptor, ionotropic, 833 Extracellular (Potential). response to ethanol cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding ovary(4)|pancreas(1)|central_nervous_system(1)|skin(1) 7 Acute lymphoblastic leukemia(62;0.0568) Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740) TGACACTCACTTCAGATACTC 0.398000 C9orf43 257169 broad.mit.edu 37 9 116185755 116185755 + Silent SNP G G A rs141883275 by1000genomes TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr9:116185755G>A uc004bho.3 + 7 1029 c.633G>A c.(631-633)GCG>GCA p.A211A C9orf43_uc004bhp.2_Silent_p.A211A NM_152786 NP_689999 Q8TAL5 CI043_HUMAN hypothetical protein LOC257169 211 0 AATCCGAAGCGTTACCTCAGG 0.502000 TRIM32 22954 broad.mit.edu 37 9 119461292 119461292 + Missense_Mutation SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr9:119461292C>T uc004bjx.2 + 2 1429 c.1271C>T c.(1270-1272)GCA>GTA p.A424V ASTN2_uc004bjr.1_Intron|ASTN2_uc004bjs.1_Intron|ASTN2_uc004bjt.1_Intron|TRIM32_uc004bjw.2_Missense_Mutation_p.A424V NM_001099679 NP_001093149 Q13049 TRI32_HUMAN tripartite motif-containing 32 424 NHL 2. fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV nucleus myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|kidney(1) 3 TTCCTTGGGGCAGATCTACCC 0.493000 Bardet-Biedl_syndrome OR1N2 138882 broad.mit.edu 37 9 125315533 125315533 + Missense_Mutation SNP T T C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr9:125315533T>C uc011lyx.1 + 1 85 c.85T>C c.(85-87)TTC>CTC p.F29L NM_001004457 NP_001004457 Q8NGR9 OR1N2_HUMAN olfactory receptor, family 1, subfamily N, 29 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(2) 4 TGTTTCAGACTTCCTCCTTCT 0.488000 RALGPS1 9649 broad.mit.edu 37 9 129981048 129981048 + Silent SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr9:129981048A>G uc004bqo.1 + 19 1941 c.1674A>G c.(1672-1674)TAA>TAG p.*558* NM_014636 NP_055451 Q5JS13 RGPS1_HUMAN Ral GEF with PH domain and SH3 binding motif 1 558 small GTPase mediated signal transduction cytoplasm|plasma membrane guanyl-nucleotide exchange factor activity ovary(1) 1 CATTTGAGTAAGTCTCTGCAG 0.552000 COL5A1 1289 broad.mit.edu 37 9 137713968 137713968 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr9:137713968T>G uc004cfe.2 + 59 4962 c.4580T>G c.(4579-4581)ATT>AGT p.I1527S uc004cff.2_Intron NM_000093 NP_000084 P20908 CO5A1_HUMAN alpha 1 type V collagen preproprotein 1527 Triple-helical region. axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells collagen type V heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding skin(4)|ovary(3)|pancreas(2)|central_nervous_system(1)|kidney(1) 11 Myeloproliferative disorder(178;0.0341) all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131) TCTGGCCCGATTGGGCCTCCT 0.622000 SNAPC4 6621 broad.mit.edu 37 9 139273391 139273391 + Missense_Mutation SNP G G C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr9:139273391G>C uc004chh.2 - 21 2897 c.2888C>G c.(2887-2889)CCT>CGT p.P963R NM_003086 NP_003077 Q5SXM2 SNPC4_HUMAN small nuclear RNA activating complex, 963 Pro-rich. snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter snRNA-activating protein complex DNA binding|sequence-specific DNA binding transcription factor activity 0 Myeloproliferative disorder(178;0.0511) OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06) AGAAGTGCCAGGTTTGGCTGC 0.667000 MAGEB4 4115 broad.mit.edu 37 X 30260841 30260841 + Silent SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chrX:30260841A>C uc004dcb.2 + 1 673 c.589A>C c.(589-591)AGG>CGG p.R197R MAGEB1_uc004dcc.2_5'Flank|MAGEB1_uc004dcd.2_5'Flank NM_002367 NP_002358 O15481 MAGB4_HUMAN melanoma antigen family B, 4 197 MAGE. ovary(1) 1 GACCCTTCCAAGGAATGGGCT 0.522000 FAM47A 158724 broad.mit.edu 37 X 34148536 34148536 + Silent SNP A A G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chrX:34148536A>G uc004ddg.2 - 1 1893 c.1860T>C c.(1858-1860)GCT>GCC p.A620A NM_203408 NP_981953 Q5JRC9 FA47A_HUMAN hypothetical protein LOC158724 620 ovary(4)|central_nervous_system(1) 5 ATTCTTCATCAGCTCCCAGGT 0.438000 FAM133A 286499 broad.mit.edu 37 X 92964511 92964511 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chrX:92964511A>C uc004efr.1 + 4 406 c.93A>C c.(91-93)CAA>CAC p.Q31H NM_173698 NP_775969 Q8N9E0 F133A_HUMAN hypothetical protein LOC286499 31 0 CAACAATCCAAGATTATCTAA 0.418000 PCDH19 57526 broad.mit.edu 37 X 99662240 99662240 + Missense_Mutation SNP G G T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chrX:99662240G>T uc010nmz.2 - 1 3032 c.1356C>A c.(1354-1356)CAC>CAA p.H452Q PCDH19_uc004efw.3_Missense_Mutation_p.H452Q|PCDH19_uc004efx.3_Missense_Mutation_p.H452Q NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 452 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 GCTTGGAAAAGTGCGGGTGGT 0.577000 GUCY2F 2986 broad.mit.edu 37 X 108684663 108684663 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chrX:108684663T>G uc004eod.3 - 7 1894 c.1618A>C c.(1618-1620)AGT>CGT p.S540R GUCY2F_uc011msq.1_RNA NM_001522 NP_001513 P51841 GUC2F_HUMAN guanylate cyclase 2F precursor 540 Protein kinase.|Cytoplasmic (Potential). intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception integral to plasma membrane|nuclear outer membrane ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity lung(4)|breast(3)|central_nervous_system(1) 8 GACCTCCCACTTTGGACCTCT 0.433000 TRPC5 7224 broad.mit.edu 37 X 111155770 111155770 + Missense_Mutation SNP T T G TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chrX:111155770T>G uc004epl.1 - 3 1568 c.649A>C c.(649-651)ATC>CTC p.I217L TRPC5_uc004epm.1_Missense_Mutation_p.I217L NM_012471 NP_036603 Q9UL62 TRPC5_HUMAN transient receptor potential cation channel, 217 Cytoplasmic (Potential). axon guidance calcium channel complex|integral to plasma membrane protein binding|store-operated calcium channel activity urinary_tract(1) 1 GCAGTTAGGATGGGGTCCTCA 0.552000 SLITRK2 84631 broad.mit.edu 37 X 144906221 144906221 + Missense_Mutation SNP G G C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chrX:144906221G>C uc004fcd.2 + 5 3268 c.2278G>C c.(2278-2280)GCT>CCT p.A760P SLITRK2_uc010nsp.2_Missense_Mutation_p.A760P|SLITRK2_uc010nso.2_Missense_Mutation_p.A760P|SLITRK2_uc011mwq.1_Missense_Mutation_p.A760P|SLITRK2_uc011mwr.1_Missense_Mutation_p.A760P|SLITRK2_uc011mws.1_Missense_Mutation_p.A760P|SLITRK2_uc004fcg.2_Missense_Mutation_p.A760P|SLITRK2_uc011mwt.1_Missense_Mutation_p.A760P|CXorf1_uc004fch.2_5'Flank NM_032539 NP_115928 Q9H156 SLIK2_HUMAN SLIT and NTRK-like family, member 2 precursor 760 Cytoplasmic (Potential). integral to membrane ovary(5)|central_nervous_system(1)|pancreas(1) 7 Acute lymphoblastic leukemia(192;6.56e-05) TCAAAATATTGCTGAGCGAGT 0.488000 PASD1 139135 broad.mit.edu 37 X 150840247 150840247 + Missense_Mutation SNP A A C TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chrX:150840247A>C uc004fev.3 + 13 1765 c.1433A>C c.(1432-1434)AAC>ACC p.N478T NM_173493 NP_775764 Q8IV76 PASD1_HUMAN PAS domain containing 1 478 nucleus signal transducer activity ovary(3) 3 Acute lymphoblastic leukemia(192;6.56e-05) GTTGCCTTCAACCAGGTATGG 0.453000 RPL10 6134 broad.mit.edu 37 X 153629051 153629051 + Silent SNP C C T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chrX:153629051C>T uc004fkm.2 + 7 689 c.501C>T c.(499-501)ATC>ATT p.I167I uc010nuv.1_5'Flank|RPL10_uc004fko.2_Missense_Mutation_p.S113F|RPL10_uc004fkn.1_Silent_p.I167I|RPL10_uc004fkp.1_3'UTR|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Intron NM_006013 NP_006004 P27635 RL10_HUMAN ribosomal protein L10 167 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosolic large ribosomal subunit|endoplasmic reticulum structural constituent of ribosome 0 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) AGATCCACATCTCAAAGAAGT 0.527000 SPTA1 6708 broad.mit.edu 37 1 158619716 158619716 + Frame_Shift_Del DEL A A - TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr1:158619716delA uc001fst.1 - 25 3698 c.3499delT c.(3499-3501)TCTfs p.S1167fs NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1167 Spectrin 11. actin filament capping|actin filament organization|axon guidance|regulation of cell shape cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton actin filament binding|calcium ion binding|structural constituent of cytoskeleton ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1) 8 all_hematologic(112;0.0378) CTCTGCAAAGAACCCCAGCGG 0.463 PRKCH 5583 broad.mit.edu 37 14 61789032 61789033 + Frame_Shift_Ins INS - - T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr14:61789032_61789033insT uc001xfn.2 + 1 518_519 c.213_214insT c.(211-216)GAGTTTfs p.E71fs PRKCH_uc010tsa.1_Intron|uc001xfm.2_Intron NM_006255 NP_006246 P24723 KPCL_HUMAN protein kinase C, eta 71_72 C2. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity ovary(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|large_intestine(1)|skin(1) 6 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) ACAACGAGGAGTTTTGCGCTAA 0.624 KIF24 347240 broad.mit.edu 37 9 34256919 34256919 + Frame_Shift_Del DEL T T - TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr9:34256918_34256918CT>C uc003zua.4 - 10 2807 c.2687_2687AG>G c.(2686-2688)aggfs p.R896fs KIF24_uc010mkb.3_Intron NM_194313 NP_919289 Q5T7B8 KIF24_HUMAN Homo sapiens kinesin family member 24 (KIF24), mRNA. 896 microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2) 32 LUSC - Lung squamous cell carcinoma(29;0.0107) TATGGGGTCCCTGGAGTCCAC 0.547 MRPL49 740 broad.mit.edu 37 11 64893044 64893044 + Frame_Shift_Del DEL G G - TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr11:64893043_64893043CG>C uc001oda.2 + 2 416 c.313_313CG>C c.(313-315)cggfs p.R105fs MRPL49_uc021qle.1_Non-coding_Transcript|MRPL49_uc021qlf.1_Frame_Shift_Del_p.R43fs NM_004927 NP_004918 Q13405 RM49_HUMAN Homo sapiens mitochondrial ribosomal protein L49 (MRPL49), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 105 translation mitochondrial ribosome protein binding|structural constituent of ribosome endometrium(1)|ovary(1) 2 GCATGGCAACCGGCAGATGAC 0.582 PRKCH 5583 broad.mit.edu 37 14 61789033 61789034 + Frame_Shift_Ins INS - - T TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr14:61789032_61789033G>GT uc001xfn.3 + 0 518_519 c.213_214G>GT c.(211-216)gagtttfs p.E71fs PRKCH_uc010tsa.2_Intron|BC050301_uc001xfm.3_Intron NM_006255 NP_006246 P24723 KPCL_HUMAN Homo sapiens protein kinase C, eta (PRKCH), mRNA. 71 C2. intracellular signal transduction|platelet activation cytosol|plasma membrane ATP binding|enzyme binding|metal ion binding|protein kinase C activity endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2) 25 OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182) ACAACGAGGAGTTTTGCGCTAA 0.624 ATP8B4 79895 broad.mit.edu 37 15 50189601 50189602 + In_Frame_Ins INS - - CCATGAACA TCGA-BR-6458-01A-11D-1800-08 TCGA-BR-6458-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx 9b302ae7-9c9a-487d-89d3-a56a33731aac 7c5c6cad-71b4-4020-a7db-e31898b12605 g.chr15:50189600_50189601T>TCCATGAACA uc001zxu.3 - 22 2727_2728 c.2585_2586A>TGTTCATGGA c.(2584-2586)gga>gTGTTCATGGA p.862_862G>VFM ATP8B4_uc010ber.3_In_Frame_Ins_p.735_735G>VFM|ATP8B4_uc010ufd.2_In_Frame_Ins_p.672_672G>VFM|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxv.1_In_Frame_Ins_p.160_160G>VFM NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA. 862 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 breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1) 73 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) AAGACCACCTTCCATGAACAAG 0.411