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 CA6 765 broad.mit.edu 37 1 9030988 9030988 + Silent SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr1:9030988C>A uc001apm.2 + 7 816 c.792C>A c.(790-792)CGC>CGA p.R264R CA6_uc009vmn.2_Silent_p.R204R NM_001215 NP_001206 P23280 CAH6_HUMAN carbonic anhydrase VI precursor 264 one-carbon metabolic process extracellular region carbonate dehydratase activity|zinc ion binding ovary(2) 2 Ovarian(185;0.112)|all_lung(157;0.143) all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649) ACGATTACCGCAGGACCCAGC 0.522000 ARID1A 8289 broad.mit.edu 37 1 27100390 27100390 + Splice_Site SNP G G C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr1:27100390G>C uc001bmv.1 + 17 4474 c.4101_splice c.e17+1 p.Q1367_splice ARID1A_uc001bmt.1_Splice_Site_p.Q1366_splice|ARID1A_uc001bmu.1_Splice_Site_p.Q1367_splice|ARID1A_uc001bmw.1_Splice_Site_p.Q984_splice|ARID1A_uc001bmx.1_Splice_Site_p.Q213_splice|ARID1A_uc009vsm.1_Splice_Site|ARID1A_uc009vsn.1_5'Flank NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GCAACAGCAGGTGAGGAGGGT 0.483000 Mis|N|F|S|D clear cell ovarian carcinoma|RCC WASF2 10163 broad.mit.edu 37 1 27742538 27742538 + Missense_Mutation SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr1:27742538A>G uc001bof.1 - 5 694 c.478T>C c.(478-480)TGG>CGG p.W160R WASF2_uc010ofl.1_Missense_Mutation_p.W160R NM_006990 NP_008921 Q9Y6W5 WASF2_HUMAN WAS protein family, member 2 160 WK->ED: Constitutive induction of the formation of actin filaments. Strongly enhances formation of lamellipodia. actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger actin cytoskeleton|lamellipodium actin binding skin(2)|ovary(1) 3 all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481) TTCTCCTTCCAAAGATCAAAG 0.463000 ODF2L 57489 broad.mit.edu 37 1 86826191 86826191 + Missense_Mutation SNP A A T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr1:86826191A>T uc001dll.1 - 12 1512 c.1172T>A c.(1171-1173)GTT>GAT p.V391D ODF2L_uc001dlm.1_Missense_Mutation_p.V362D|ODF2L_uc001dln.2_Missense_Mutation_p.V362D|ODF2L_uc001dlo.2_Missense_Mutation_p.V231D|ODF2L_uc001dlp.2_Missense_Mutation_p.V391D|ODF2L_uc010osg.1_Missense_Mutation_p.V362D|ODF2L_uc001dlq.1_Missense_Mutation_p.V192D|ODF2L_uc009wcr.1_Missense_Mutation_p.V231D NM_020729 NP_065780 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like isoform 391 Potential. centrosome ovary(1) 1 all cancers(265;0.0313)|Epithelial(280;0.0611) AACAGATACAACTTCATCCTT 0.294000 OLFM3 118427 broad.mit.edu 37 1 102302454 102302454 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr1:102302454A>C uc001duf.2 - 2 328 c.257T>G c.(256-258)CTT>CGT p.L86R OLFM3_uc001dug.2_Missense_Mutation_p.L66R|OLFM3_uc001duh.2_RNA|OLFM3_uc001dui.2_RNA|OLFM3_uc001duj.2_5'UTR|OLFM3_uc001due.2_RNA NM_058170 NP_477518 Q96PB7 NOE3_HUMAN olfactomedin 3 86 Potential. extracellular region ovary(2)|skin(1) 3 all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189) all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145) TAGTTGGCGAAGTTGCCTGCT 0.463000 KCNA10 3744 broad.mit.edu 37 1 111060346 111060346 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr1:111060346G>A uc001dzt.1 - 1 1452 c.1064C>T c.(1063-1065)TCG>TTG p.S355L NM_005549 NP_005540 Q16322 KCA10_HUMAN potassium voltage-gated channel, shaker-related 355 Helical; Voltage-sensor; Name=Segment S4; (Potential). voltage-gated potassium channel complex intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity ovary(3)|large_intestine(1) 4 all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301) Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134) GGAGTGGCGCGAGAGCTTGAA 0.577000 DCLRE1B 64858 broad.mit.edu 37 1 114454003 114454003 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr1:114454003C>A uc001eeg.2 + 4 960 c.789C>A c.(787-789)AGC>AGA p.S263R DCLRE1B_uc001eeh.2_Missense_Mutation_p.S137R|DCLRE1B_uc001eei.2_Missense_Mutation_p.S137R NM_022836 NP_073747 Q9H816 DCR1B_HUMAN DNA cross-link repair 1B (PSO2 homolog, S. 263 cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation centrosome|chromosome, telomeric region|nucleus 5'-3' exonuclease activity|protein binding 0 Lung SC(450;0.184) all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AAATCCACAGCTCCCACCCTG 0.532000 Direct_reversal_of_damage|Other_identified_genes_with_known_or_suspected_DNA_repair_function CD5L 922 broad.mit.edu 37 1 157803243 157803243 + Missense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr1:157803243G>T uc001frk.3 - 5 921 c.778C>A c.(778-780)CTG>ATG p.L260M NM_005894 NP_005885 O43866 CD5L_HUMAN CD5 molecule-like precursor 260 SRCR 3. apoptosis|cellular defense response extracellular space|membrane scavenger receptor activity ovary(1) 1 all_hematologic(112;0.0378) LUSC - Lung squamous cell carcinoma(543;0.24) CCCTTGTGCAGCACCTCCAGT 0.572000 CD1C 911 broad.mit.edu 37 1 158259792 158259792 + Translation_Start_Site SNP A A T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr1:158259792A>T uc001fru.2 + 1 230 c.-62A>T c.(-64--60)TAAGT>TATGT CD1C_uc001frv.2_5'Flank NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor antigen processing and presentation|T cell activation involved in immune response endosome membrane|integral to plasma membrane endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding ovary(2)|skin(1)|pancreas(1) 4 all_hematologic(112;0.0378) CAGAGGGATAAGTTTGCTAAG 0.438000 SPTA1 6708 broad.mit.edu 37 1 158606546 158606546 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr1:158606546T>G uc001fst.1 - 37 5394 c.5195A>C c.(5194-5196)AAG>ACG p.K1732T NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1732 Spectrin 17. 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) TCGTATCAACTTCTCCCTAAA 0.473000 SPTA1 6708 broad.mit.edu 37 1 158607915 158607915 + Silent SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr1:158607915T>C uc001fst.1 - 36 5296 c.5097A>G c.(5095-5097)CAA>CAG p.Q1699Q NM_003126 NP_003117 P02549 SPTA1_HUMAN spectrin, alpha, erythrocytic 1 1699 Spectrin 16. 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) CTGCCAATTCTTGGACATTCA 0.428000 CENPF 1063 broad.mit.edu 37 1 214816265 214816265 + Nonsense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr1:214816265C>A uc001hkm.2 + 12 4758 c.4584C>A c.(4582-4584)TGC>TGA p.C1528* NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 1624 1-2.|2 X 96 AA approximate tandem repeats. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AAGTATTTTGCAGCAGTCTGC 0.478000 CHML 1122 broad.mit.edu 37 1 241798734 241798734 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr1:241798734T>C uc001hzd.2 - 1 499 c.335A>G c.(334-336)AAC>AGC p.N112S OPN3_uc001hza.2_Intron|OPN3_uc001hzb.2_Intron|OPN3_uc001hzc.2_Intron NM_001821 NP_001812 P26374 RAE2_HUMAN choroideremia-like Rab escort protein 2 112 intracellular protein transport|visual perception Rab-protein geranylgeranyltransferase complex GTPase activator activity|Rab geranylgeranyltransferase activity ovary(4)|skin(2) 6 Ovarian(103;0.103)|all_lung(81;0.23) all_cancers(173;0.0231) OV - Ovarian serous cystadenocarcinoma(106;0.0125) CTCTTCAACGTTGTCCTCCAT 0.433000 OR2M5 127059 broad.mit.edu 37 1 248308749 248308749 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr1:248308749A>C uc010pze.1 + 1 300 c.300A>C c.(298-300)CAA>CAC p.Q100H NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 100 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|kidney(1) 3 all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0388) GTGCCACACAAATTTTCTTCT 0.463000 OR14I1 401994 broad.mit.edu 37 1 248845550 248845550 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr1:248845550C>A uc001ieu.1 - 1 56 c.56G>T c.(55-57)TGG>TTG p.W19L NM_001004734 NP_001004734 A6ND48 O14I1_HUMAN olfactory receptor, family 14, subfamily I, 19 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTGCAGCTCCCAGATACCAGA 0.468000 SFMBT2 57713 broad.mit.edu 37 10 7409728 7409728 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr10:7409728G>A uc009xio.1 - 4 410 c.319C>T c.(319-321)CGC>TGC p.R107C SFMBT2_uc001ijn.1_Missense_Mutation_p.R107C|SFMBT2_uc010qay.1_Missense_Mutation_p.R107C|SFMBT2_uc001ijo.1_Missense_Mutation_p.R107C NM_001029880 NP_001025051 Q5VUG0 SMBT2_HUMAN Scm-like with four mbt domains 2 107 MBT 1. regulation of transcription, DNA-dependent nucleus ovary(4)|upper_aerodigestive_tract(2)|large_intestine(1)|central_nervous_system(1) 8 CCGCAGTAGCGCAGAAGCAGC 0.577000 CUBN 8029 broad.mit.edu 37 10 17061928 17061928 + Missense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr10:17061928G>T uc001ioo.2 - 28 4124 c.4072C>A c.(4072-4074)CCA>ACA p.P1358T NM_001081 NP_001072 O60494 CUBN_HUMAN cubilin precursor 1358 CUB 8. cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1) 19 Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200) GTACTCCCTGGAGGGGGCAGG 0.488000 NEBL 10529 broad.mit.edu 37 10 21112165 21112165 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr10:21112165A>C uc001iqi.2 - 19 2331 c.1934T>G c.(1933-1935)GTT>GGT p.V645G NEBL_uc001iqj.2_RNA|NEBL_uc001iqk.2_Intron|NEBL_uc001iql.1_RNA NM_006393 NP_006384 O76041 NEBL_HUMAN nebulette sarcomeric isoform 645 Nebulin 18. regulation of actin filament length actin binding|structural constituent of muscle ovary(2) 2 GTTTTCTTTAACTCTCTTTAG 0.284000 FAM13C 220965 broad.mit.edu 37 10 61012739 61012739 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr10:61012739T>G uc001jkn.2 - 13 1486 c.1352A>C c.(1351-1353)GAT>GCT p.D451A FAM13C_uc001jko.2_Missense_Mutation_p.D353A|FAM13C_uc010qid.1_Missense_Mutation_p.D367A|FAM13C_uc010qie.1_Missense_Mutation_p.D368A|FAM13C_uc010qif.1_Missense_Mutation_p.D473A NM_198215 NP_937858 Q8NE31 FA13C_HUMAN hypothetical protein LOC220965 isoform 1 451 ovary(2) 2 ACGGTCTTCATCAGAGTCCTC 0.478000 ZNF365 22891 broad.mit.edu 37 10 64425905 64425905 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr10:64425905A>C uc001jmd.1 + 6 833 c.499A>C c.(499-501)AGT>CGT p.S167R ZNF365_uc001jmc.2_Missense_Mutation_p.S413R|ZNF365_uc001jme.1_RNA|ZNF365_uc001jmf.1_RNA|ZNF365_uc009xpg.1_Intron NM_199452 NP_955524 Q70YC4 TALAN_HUMAN zinc finger protein 365 isoform D 167 ovary(1)|skin(1) 2 Prostate(12;0.0297)|all_hematologic(501;0.228) TGTCTCTACAAGTCAAAGCAG 0.373000 KCNMA1 3778 broad.mit.edu 37 10 78709036 78709036 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr10:78709036C>T uc001jxn.2 - 22 2750 c.2573G>A c.(2572-2574)CGG>CAG p.R858Q KCNMA1_uc001jxj.2_Missense_Mutation_p.R804Q|KCNMA1_uc001jxk.1_Missense_Mutation_p.R476Q|KCNMA1_uc009xrt.1_Missense_Mutation_p.R649Q|KCNMA1_uc001jxl.1_Missense_Mutation_p.R483Q|KCNMA1_uc001jxo.2_Missense_Mutation_p.R841Q|KCNMA1_uc001jxm.2_Missense_Mutation_p.R800Q|KCNMA1_uc001jxq.2_Missense_Mutation_p.R803Q NM_001161352 NP_001154824 Q12791 KCMA1_HUMAN large conductance calcium-activated potassium 858 Cytoplasmic (Potential). cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity pancreas(2)|ovary(1) 3 all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198) OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183) Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021) CACCAGGTTCCGGAGGCCGAT 0.557000 KIF20B 9585 broad.mit.edu 37 10 91484893 91484893 + Missense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr10:91484893G>T uc001kgs.1 + 15 2051 c.1979G>T c.(1978-1980)TGT>TTT p.C660F KIF20B_uc001kgr.1_Missense_Mutation_p.C660F|KIF20B_uc001kgt.1_5'UTR NM_016195 NP_057279 Q96Q89 KI20B_HUMAN M-phase phosphoprotein 1 660 cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis centrosome|microtubule|nucleolus|nucleoplasm|spindle ATP binding|ATPase activity|microtubule motor activity|WW domain binding ovary(1)|pancreas(1)|skin(1) 3 AAAGACATTTGTGCCACAAAA 0.373000 C10orf95 79946 broad.mit.edu 37 10 104210877 104210877 + Missense_Mutation SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr10:104210877C>G uc001kvo.1 - 2 186 c.111G>C c.(109-111)AAG>AAC p.K37N uc001kvp.1_Intron|uc001kvq.1_Intron|uc001kvr.1_5'Flank NM_024886 NP_079162 Q9H7T3 CJ095_HUMAN hypothetical protein LOC79946 37 liver(1) 1 Colorectal(252;0.207) Epithelial(162;8.34e-09)|all cancers(201;1.95e-07)|BRCA - Breast invasive adenocarcinoma(275;0.213) GGCTGCTGTTCTTACTGGGGG 0.657000 PNLIPRP3 119548 broad.mit.edu 37 10 118228808 118228808 + Missense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr10:118228808G>T uc001lcl.3 + 9 1140 c.1039G>T c.(1039-1041)GGG>TGG p.G347W NM_001011709 NP_001011709 Q17RR3 LIPR3_HUMAN pancreatic lipase-related protein 3 precursor 347 lipid catabolic process extracellular region triglyceride lipase activity ovary(1) 1 all cancers(201;0.0131) TTTAAACACAGGGTCCCTTTC 0.294000 PTPRE 5791 broad.mit.edu 37 10 129869126 129869126 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr10:129869126G>A uc001lkb.2 + 15 1627 c.1348G>A c.(1348-1350)GCA>ACA p.A450T PTPRE_uc009yat.2_Missense_Mutation_p.A461T|PTPRE_uc009yau.2_Missense_Mutation_p.A450T|PTPRE_uc001lkd.2_Missense_Mutation_p.A392T|PTPRE_uc010quq.1_Missense_Mutation_p.A351T NM_006504 NP_006495 P23469 PTPRE_HUMAN protein tyrosine phosphatase, receptor type, E 450 Tyrosine-protein phosphatase 2.|Cytoplasmic (Potential). negative regulation of insulin receptor signaling pathway|protein phosphorylation cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane transmembrane receptor protein tyrosine phosphatase activity ovary(1) 1 all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203) CAACTTGCCGGCAAACATGAA 0.552000 OR52E6 390078 broad.mit.edu 37 11 5862280 5862280 + Missense_Mutation SNP A A T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr11:5862280A>T uc010qzq.1 - 1 848 c.848T>A c.(847-849)GTT>GAT p.V283D TRIM5_uc001mbq.1_Intron NM_001005167 NP_001005167 Q96RD3 O52E6_HUMAN olfactory receptor, family 52, subfamily E, 283 Helical; Name=7; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1) 1 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) GGGAGGAACAACCACATATAG 0.403000 OR10A4 283297 broad.mit.edu 37 11 6898077 6898077 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr11:6898077T>G uc010rat.1 + 1 199 c.199T>G c.(199-201)TTG>GTG p.L67V NM_207186 NP_997069 Q9H209 O10A4_HUMAN olfactory receptor, family 10, subfamily A, 67 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CCTCAGAAACTTGTCCTTCCT 0.458000 OR4X2 119764 broad.mit.edu 37 11 48267435 48267435 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr11:48267435C>A uc001ngs.1 + 1 780 c.780C>A c.(778-780)GAC>GAA p.D260E NM_001004727 NP_001004727 Q8NGF9 OR4X2_HUMAN olfactory receptor, family 4, subfamily X, 260 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 TGCCCATAGACAAGATGGTGG 0.512000 DAGLA 747 broad.mit.edu 37 11 61511242 61511242 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr11:61511242C>T uc001nsa.2 + 20 2521 c.2410C>T c.(2410-2412)CGG>TGG p.R804W NM_006133 NP_006124 Q9Y4D2 DGLA_HUMAN neural stem cell-derived dendrite regulator 804 Cytoplasmic (Potential). cell death|lipid catabolic process|platelet activation integral to membrane|plasma membrane acylglycerol lipase activity|metal ion binding|triglyceride lipase activity ovary(2)|central_nervous_system(1) 3 READ - Rectum adenocarcinoma(4;0.219) CCGCAGCATCCGGGGCTCCCC 0.662000 AHNAK 79026 broad.mit.edu 37 11 62299852 62299852 + Silent SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr11:62299852T>C uc001ntl.2 - 5 2337 c.2037A>G c.(2035-2037)AAA>AAG p.K679K AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 679 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GGCCTTTAAGTTTTCCCCCCA 0.473000 NUDT22 84304 broad.mit.edu 37 11 63994300 63994300 + Missense_Mutation SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr11:63994300C>G uc001nyp.3 + 2 356 c.176C>G c.(175-177)CCC>CGC p.P59R TRPT1_uc010rnc.1_5'Flank|TRPT1_uc010rnd.1_5'Flank|TRPT1_uc001nyn.2_5'Flank|TRPT1_uc001nyo.2_5'Flank|TRPT1_uc010rne.1_5'Flank|TRPT1_uc010rnf.1_5'Flank|NUDT22_uc009ypd.2_Missense_Mutation_p.P59R|NUDT22_uc009ype.2_Missense_Mutation_p.P59R|NUDT22_uc001nyq.3_Missense_Mutation_p.P59R|NUDT22_uc010rng.1_5'Flank NM_032344 NP_115720 Q9BRQ3 NUD22_HUMAN nudix (nucleoside diphosphate linked moiety 59 hydrolase activity 0 TTCGACGCCCCCAAGTTCCGC 0.677000 NADSYN1 55191 broad.mit.edu 37 11 71209472 71209472 + Silent SNP G G A rs147528912 byFrequency TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr11:71209472G>A uc001oqn.2 + 20 2094 c.1968G>A c.(1966-1968)GCG>GCA p.A656A NADSYN1_uc001oqo.2_Silent_p.A396A|NADSYN1_uc001oqp.2_Silent_p.A285A NM_018161 NP_060631 Q6IA69 NADE_HUMAN NAD synthetase 1 656 Ligase (By similarity). NAD biosynthetic process|water-soluble vitamin metabolic process cytosol ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding ovary(2) 2 L-Glutamic Acid(DB00142)|L-Glutamine(DB00130) TCACACCCGCGTACCACGCCG 0.522000 FCHSD2 9873 broad.mit.edu 37 11 72553748 72553748 + Missense_Mutation SNP C C T rs147782509 TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr11:72553748C>T uc009ytl.2 - 17 2065 c.1844G>A c.(1843-1845)CGT>CAT p.R615H FCHSD2_uc010rrg.1_Missense_Mutation_p.R479H|FCHSD2_uc001oth.3_Missense_Mutation_p.R559H|ATG16L2_uc009ytj.1_3'UTR NM_014824 NP_055639 O94868 FCSD2_HUMAN FCH and double SH3 domains 2 615 SH3 2. protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) AACTCCAATACGCCCATTGAA 0.453000 KLHL35 283212 broad.mit.edu 37 11 75134734 75134734 + Splice_Site SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr11:75134734A>G uc001owm.1 - 5 1122 c.903_splice c.e5+1 p.V301_splice NM_001039548 NP_001034637 Q6PF15 KLH35_HUMAN kelch-like 35 0 GCCTCCACTTACCACAGGGCT 0.473000 FAT3 120114 broad.mit.edu 37 11 92534886 92534886 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr11:92534886T>G uc001pdj.3 + 9 8724 c.8707T>G c.(8707-8709)TCT>GCT p.S2903A NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 2903 Cadherin 26.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AGAGGCATTCTCTCTTTCCTC 0.527000 TCGA Ovarian(4;0.039) FAM55D 54827 broad.mit.edu 37 11 114453577 114453577 + Missense_Mutation SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr11:114453577A>G uc001ppc.2 - 3 444 c.263T>C c.(262-264)TTC>TCC p.F88S FAM55D_uc001ppd.2_5'UTR NM_001077639 NP_001071107 Q6UWF7 FA55D_HUMAN hypothetical protein LOC54827 isoform 1 88 extracellular region ovary(2)|skin(2) 4 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;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938) CACGTGGGTGAAAGGTCTGGG 0.498000 OR10G4 390264 broad.mit.edu 37 11 123886648 123886648 + Silent SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr11:123886648T>C uc010sac.1 + 1 367 c.367T>C c.(367-369)TTG>CTG p.L123L NM_001004462 NP_001004462 Q8NGN3 O10G4_HUMAN olfactory receptor, family 10, subfamily G, 123 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1)|central_nervous_system(1) 4 Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401) TGATCGCTACTTGGCCATCAG 0.567000 OR8D2 283160 broad.mit.edu 37 11 124189952 124189952 + Silent SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr11:124189952A>G uc010sah.1 - 1 142 c.142T>C c.(142-144)TTA>CTA p.L48L NM_001002918 NP_001002918 Q9GZM6 OR8D2_HUMAN olfactory receptor, family 8, subfamily D, 48 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|pancreas(1) 3 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525) AGAGCAATTAAGAAGATCATG 0.453000 NTM 50863 broad.mit.edu 37 11 132177683 132177683 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr11:132177683G>A uc001qgp.2 + 4 1291 c.627G>A c.(625-627)GCG>GCA p.A209A NTM_uc001qgm.2_Silent_p.A209A|NTM_uc010sch.1_Silent_p.A200A|NTM_uc010sci.1_Silent_p.A209A|NTM_uc010scj.1_Silent_p.A168A|NTM_uc001qgo.2_Silent_p.A209A|NTM_uc001qgq.2_Silent_p.A209A|NTM_uc001qgr.2_5'UTR NM_016522 NP_057606 Q9P121 NTRI_HUMAN neurotrimin isoform 1 209 Ig-like C2-type 2. cell adhesion|neuron recognition anchored to membrane|plasma membrane ovary(4)|central_nervous_system(1)|skin(1) 6 ACGTGGCCGCGCCCGTGGTAC 0.582000 PDE3A 5139 broad.mit.edu 37 12 20523121 20523121 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr12:20523121C>T uc001reh.1 + 1 925 c.903C>T c.(901-903)TCC>TCT p.S301S NM_000921 NP_000912 Q14432 PDE3A_HUMAN phosphodiesterase 3A 301 lipid metabolic process|platelet activation|signal transduction cytosol|integral to membrane 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding ovary(3)|upper_aerodigestive_tract(1) 4 Esophageal squamous(101;0.125) Breast(259;0.134) Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277) CCGAGATGTCCGGCTGCAGCA 0.587000 LRRK2 120892 broad.mit.edu 37 12 40692165 40692165 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr12:40692165T>C uc001rmg.3 + 24 3338 c.3217T>C c.(3217-3219)TCA>CCA p.S1073P LRRK2_uc001rmh.1_Missense_Mutation_p.S695P|LRRK2_uc009zjw.2_5'UTR NM_198578 NP_940980 Q5S007 LRRK2_HUMAN leucine-rich repeat kinase 2 1073 LRR 4. activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb external side of mitochondrial outer membrane ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding ovary(12)|stomach(5)|upper_aerodigestive_tract(2)|lung(2)|large_intestine(1)|urinary_tract(1)|pancreas(1) 24 all_cancers(12;0.00108)|Breast(8;0.218) Lung NSC(34;0.0942)|all_lung(34;0.11) CATTGGACCCTCAGTGGTTTT 0.368000 DDX23 9416 broad.mit.edu 37 12 49224310 49224310 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr12:49224310T>C uc001rsm.2 - 17 2496 c.2405A>G c.(2404-2406)CAG>CGG p.Q802R NM_004818 NP_004809 Q9BUQ8 DDX23_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 23 802 catalytic step 2 spliceosome|nucleoplasm|U5 snRNP ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding kidney(3)|ovary(1)|lung(1)|skin(1) 6 TGGCTTATGCTGGGCATCTGG 0.562000 KRT73 319101 broad.mit.edu 37 12 53009982 53009982 + Silent SNP G G A rs116369374 by1000genomes TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr12:53009982G>A uc001sas.2 - 2 665 c.630C>T c.(628-630)AGC>AGT p.S210S NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 210 Coil 1B.|Rod. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) CTTCGCGCACGCTCCTCAGCT 0.622000 ERBB3 2065 broad.mit.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr12:56478854G>A uc001sjh.2 + 3 503 c.310G>A c.(310-312)GTG>ATG p.V104M ERBB3_uc009zoj.2_RNA|ERBB3_uc010sqb.1_Intron|ERBB3_uc010sqc.1_Missense_Mutation_p.V45M|ERBB3_uc001sjg.2_Missense_Mutation_p.V104M NM_001982 NP_001973 P21860 ERBB3_HUMAN erbB-3 isoform 1 precursor 104 Extracellular (Potential). V -> M (in an ovarian mucinous carcinoma sample; somatic mutation). cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity p.V104M(1) lung(3)|central_nervous_system(2)|stomach(1)|ovary(1)|skin(1) 8 OV - Ovarian serous cystadenocarcinoma(18;0.112) CAACCTCCGCGTGGTGCGAGG 0.517000 PTPRB 5787 broad.mit.edu 37 12 71016170 71016170 + Missense_Mutation SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr12:71016170C>G uc001swc.3 - 3 752 c.708G>C c.(706-708)GAG>GAC p.E236D PTPRB_uc001swa.3_Missense_Mutation_p.E236D|PTPRB_uc001swd.3_Missense_Mutation_p.E235D|PTPRB_uc009zrr.1_Missense_Mutation_p.E115D|PTPRB_uc001swe.2_Missense_Mutation_p.E236D NM_001109754 NP_001103224 P23467 PTPRB_HUMAN protein tyrosine phosphatase, receptor type, B Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment angiogenesis integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(2)|skin(1) 3 Renal(347;0.236) GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149) CTCCTTTTACCTCTTCAGTGG 0.512000 E2F7 144455 broad.mit.edu 37 12 77436957 77436957 + Missense_Mutation SNP G G C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr12:77436957G>C uc001sym.3 - 7 1247 c.1011C>G c.(1009-1011)GAC>GAG p.D337E NM_203394 NP_976328 Q96AV8 E2F7_HUMAN E2F transcription factor 7 337 Potential. cell cycle transcription factor complex DNA binding|identical protein binding upper_aerodigestive_tract(1)|ovary(1)|kidney(1) 3 CATTGGCTATGTCATAGAGGC 0.453000 TMCC3 57458 broad.mit.edu 37 12 94976035 94976035 + Missense_Mutation SNP G G C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr12:94976035G>C uc001tdj.2 - 2 476 c.358C>G c.(358-360)CAG>GAG p.Q120E TMCC3_uc001tdi.2_Missense_Mutation_p.Q89E NM_020698 NP_065749 Q9ULS5 TMCC3_HUMAN transmembrane and coiled-coil domain family 3 120 Potential. integral to membrane ovary(1)|skin(1) 2 GCTGATTTCTGATTCTTCTTC 0.488000 NUAK1 9891 broad.mit.edu 37 12 106461395 106461395 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr12:106461395T>G uc001tlj.1 - 7 2551 c.1171A>C c.(1171-1173)AAG>CAG p.K391Q NM_014840 NP_055655 O60285 NUAK1_HUMAN AMPK-related protein kinase 5 391 ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(1)|central_nervous_system(1) 2 GAACTCAACTTGGATGGGCTT 0.527000 POLR3B 55703 broad.mit.edu 37 12 106897865 106897865 + Silent SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr12:106897865C>A uc001tlp.2 + 27 3327 c.3105C>A c.(3103-3105)CCC>CCA p.P1035P POLR3B_uc001tlq.2_Silent_p.P977P NM_018082 NP_060552 Q9NW08 RPC2_HUMAN DNA-directed RNA polymerase III B isoform 1 1035 innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter nucleoplasm DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding ovary(1)|central_nervous_system(1) 2 AAAGGCAACCCACTGAAGGAC 0.323000 NAA25 80018 broad.mit.edu 37 12 112480946 112480946 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr12:112480946T>C uc001ttm.2 - 19 2340 c.2320A>G c.(2320-2322)ATA>GTA p.I774V NAA25_uc001ttn.3_RNA|NAA25_uc009zvz.1_Missense_Mutation_p.I746V|NAA25_uc009zwa.1_Missense_Mutation_p.I774V NM_024953 NP_079229 Q14CX7 NAA25_HUMAN mitochondrial distribution and morphology 20 774 cytoplasm protein binding ovary(1)|breast(1)|pancreas(1) 3 AAAGAGCTTATCTGGCACTGA 0.378000 FZD10 11211 broad.mit.edu 37 12 130648665 130648665 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr12:130648665C>T uc001uii.2 + 1 1634 c.1178C>T c.(1177-1179)GCG>GTG p.A393V uc001uig.1_5'Flank|uc001uih.1_5'Flank NM_007197 NP_009128 Q9ULW2 FZD10_HUMAN frizzled 10 precursor 393 Extracellular (Potential). brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development cell projection|cell surface|cytoplasm|integral to plasma membrane G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding lung(3)|breast(1)|central_nervous_system(1) 5 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05) GACGTCAACGCGCTCACCGGC 0.657000 DDX51 317781 broad.mit.edu 37 12 132624651 132624651 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr12:132624651G>A uc001ujy.3 - 12 1806 c.1767C>T c.(1765-1767)TAC>TAT p.Y589Y NM_175066 NP_778236 Q8N8A6 DDX51_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 51 589 Helicase C-terminal. rRNA processing nucleolus ATP binding|ATP-dependent helicase activity|RNA binding lung(1)|pancreas(1) 2 all_neural(191;0.0982)|Medulloblastoma(191;0.163) all_epithelial(31;0.241) OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05) ACCGGTGCACGTAGGTTCTCA 0.682000 MPHOSPH8 54737 broad.mit.edu 37 13 20235930 20235930 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr13:20235930C>T uc001umh.2 + 8 1893 c.1884C>T c.(1882-1884)AAC>AAT p.N628N MPHOSPH8_uc001umg.2_Silent_p.N628N NM_017520 NP_059990 Q99549 MPP8_HUMAN M-phase phosphoprotein 8 628 ANK 1. cell cycle cytoplasm|nucleus 0 all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367) all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795) CGAAAGTGAACGGTCGGCAGA 0.552000 CCNA1 8900 broad.mit.edu 37 13 37014301 37014301 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr13:37014301G>A uc001uvr.3 + 6 1429 c.1079G>A c.(1078-1080)AGG>AAG p.R360K CCNA1_uc010teo.1_Missense_Mutation_p.R316K|CCNA1_uc010abq.2_Missense_Mutation_p.R316K|CCNA1_uc010abp.2_Missense_Mutation_p.R316K|CCNA1_uc001uvs.3_Missense_Mutation_p.R359K|CCNA1_uc010abr.2_RNA NM_003914 NP_003905 P78396 CCNA1_HUMAN cyclin A1 isoform a 360 cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis cytosol|microtubule cytoskeleton|nucleoplasm protein kinase binding lung(2)|skin(2)|ovary(1) 5 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;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242) GTGTGCGTCAGGACTGAGAAC 0.468000 POSTN 10631 broad.mit.edu 37 13 38172767 38172767 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr13:38172767G>A uc001uwo.3 - 1 215 c.97C>T c.(97-99)CGT>TGT p.R33C POSTN_uc001uwp.3_Missense_Mutation_p.R33C|POSTN_uc001uwr.2_Missense_Mutation_p.R33C|POSTN_uc001uwq.2_Missense_Mutation_p.R33C|POSTN_uc010teu.1_Missense_Mutation_p.R33C|POSTN_uc010tev.1_Missense_Mutation_p.R33C|POSTN_uc010tew.1_Missense_Mutation_p.R33C|POSTN_uc010tex.1_Intron NM_006475 NP_006466 Q15063 POSTN_HUMAN periostin, osteoblast specific factor isoform 1 33 cell adhesion|skeletal system development proteinaceous extracellular matrix heparin binding ovary(2) 2 Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743) all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154) CCCCTGATACGACTATGAGCC 0.378000 C13orf18 80183 broad.mit.edu 37 13 46946558 46946558 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr13:46946558C>T uc010acl.2 - 3 658 c.53G>A c.(52-54)GGG>GAG p.G18E C13orf18_uc001vbf.3_Intron|C13orf18_uc001vbg.3_5'UTR|C13orf18_uc010tfz.1_Intron|C13orf18_uc010acm.2_Intron|C13orf18_uc010acn.2_Intron|C13orf18_uc001vbe.3_Missense_Mutation_p.G18E|C13orf18_uc001vbh.3_Missense_Mutation_p.G18E|C13orf18_uc001vbi.3_Intron|C13orf18_uc010aco.1_Missense_Mutation_p.G18E|C13orf18_uc010tga.1_Intron NM_025113 NP_079389 Q9H714 CM018_HUMAN hypothetical protein LOC80183 18 0 Lung NSC(96;2.31e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262) KIRC - Kidney renal clear cell carcinoma(16;0.234) GBM - Glioblastoma multiforme(144;2.19e-05) ATCGCTGATCCCTTCCCAGGG 0.502000 MYCBP2 23077 broad.mit.edu 37 13 77635848 77635848 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr13:77635848G>A uc001vkf.2 - 76 12829 c.12738C>T c.(12736-12738)GAC>GAT p.D4246D MYCBP2_uc010aev.2_Silent_p.D3650D|MYCBP2_uc001vke.2_Silent_p.D863D NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 4246 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) ATCTGTCACAGTCTGTACATA 0.358000 STK24 8428 broad.mit.edu 37 13 99109504 99109504 + Nonsense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr13:99109504G>A uc001vnm.1 - 10 1448 c.1213C>T c.(1213-1215)CGA>TGA p.R405* STK24_uc001vnn.1_Nonsense_Mutation_p.R393*|STK24_uc010tim.1_Nonsense_Mutation_p.R374* NM_003576 NP_003567 Q9Y6E0 STK24_HUMAN serine/threonine kinase 24 isoform a 405 cellular component disassembly involved in apoptosis|signal transduction cytosol|nucleoplasm ATP binding|protein binding|protein serine/threonine kinase activity ovary(1)|lung(1) 2 all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184) BRCA - Breast invasive adenocarcinoma(86;0.233) ATGGCCCCTCGCAGCTCTTCA 0.612000 RIPK3 11035 broad.mit.edu 37 14 24805445 24805445 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr14:24805445T>C uc001wpb.2 - 10 1703 c.1493A>G c.(1492-1494)GAA>GGA p.E498G ADCY4_uc001wov.2_5'Flank|ADCY4_uc001wow.2_5'Flank|ADCY4_uc010toh.1_5'Flank|ADCY4_uc001wox.2_5'Flank|ADCY4_uc001woy.2_5'Flank|ADCY4_uc001woz.3_5'Flank|RIPK3_uc001wpa.2_Missense_Mutation_p.E298G|RIPK3_uc010alq.2_RNA|RIPK3_uc010toi.1_Missense_Mutation_p.E277G NM_006871 NP_006862 Q9Y572 RIPK3_HUMAN receptor-interacting serine-threonine kinase 3 498 apoptosis|induction of apoptosis by extracellular signals cytoplasm ATP binding|protein binding|transcription coactivator activity central_nervous_system(2)|ovary(1)|lung(1) 4 GBM - Glioblastoma multiforme(265;0.0181) TTTAGGGCCTTCTTGCGAACC 0.547000 NPAS3 64067 broad.mit.edu 37 14 34270197 34270197 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr14:34270197C>T uc001wru.2 + 12 2748 c.2684C>T c.(2683-2685)ACG>ATG p.T895M NPAS3_uc001wrs.2_Missense_Mutation_p.T882M|NPAS3_uc001wrt.2_Missense_Mutation_p.T863M|NPAS3_uc001wrv.2_Missense_Mutation_p.T865M NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 895 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) GCTAGCCTGACGCAGATGCCC 0.657000 HSP90AA1 3320 broad.mit.edu 37 14 102552358 102552358 + Missense_Mutation SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr14:102552358A>G uc001yku.3 - 3 456 c.266T>C c.(265-267)CTC>CCC p.L89P HSP90AA1_uc001ykv.3_Missense_Mutation_p.L211P|HSP90AA1_uc001ykw.1_Intron|HSP90AA1_uc001ykx.1_Missense_Mutation_p.L78P NM_005348 NP_005339 P07900 HS90A_HUMAN heat shock 90kDa protein 1, alpha isoform 2 89 axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction cytosol|melanosome|plasma membrane ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding ovary(2)|central_nervous_system(2)|prostate(1)|lung(1)|breast(1) 7 Rifabutin(DB00615) CACAATAGTGAGAGTTCGATC 0.423000 PAK6 56924 broad.mit.edu 37 15 40564645 40564645 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr15:40564645G>A uc010bbl.2 + 6 1519 c.1079G>A c.(1078-1080)AGC>AAC p.S360N PAK6_uc010bbm.2_Missense_Mutation_p.S360N|PAK6_uc001zky.3_Missense_Mutation_p.S360N|PAK6_uc010bbn.2_Missense_Mutation_p.S360N|PAK6_uc001zlb.2_Missense_Mutation_p.S360N NM_001128628 NP_001122100 Q9NQU5 PAK6_HUMAN p21-activated kinase 6 360 Linker. ATP binding|protein binding|protein serine/threonine kinase activity lung(5)|large_intestine(1)|ovary(1)|skin(1) 8 all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117) GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544) GCCCAGATCAGCACCAGCAAC 0.672000 FBN1 2200 broad.mit.edu 37 15 48807654 48807655 + Missense_Mutation DNP AA AA CT TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr15:48807654_48807655AA>CT uc001zwx.1 - 12 1725_1726 c.1397_1398TT>AG c.(1396-1398)ATT>AAG p.I466K NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 466 EGF-like 6. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CAGGAGTTGGAATGCAGCGTCC 0.500000 FBN1 2200 broad.mit.edu 37 15 48818420 48818420 + Missense_Mutation SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr15:48818420A>G uc001zwx.1 - 9 1223 c.895T>C c.(895-897)TGT>CGT p.C299R NM_000138 NP_000129 P35555 FBN1_HUMAN fibrillin 1 precursor 299 EGF-like 5; calcium-binding. heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development basement membrane|extracellular space|microfibril calcium ion binding|extracellular matrix structural constituent|protein binding ovary(2)|large_intestine(1) 3 all_lung(180;0.00279) all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05) CCCCCTTCACAGATTCCAGGA 0.398000 RNF111 54778 broad.mit.edu 37 15 59381897 59381897 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr15:59381897G>A uc002afv.2 + 11 2861 c.2582G>A c.(2581-2583)CGT>CAT p.R861H RNF111_uc002afs.2_Missense_Mutation_p.R861H|RNF111_uc002aft.2_Missense_Mutation_p.R870H|RNF111_uc002afu.2_Missense_Mutation_p.R860H|RNF111_uc002afw.2_Missense_Mutation_p.R870H|RNF111_uc002afx.2_Missense_Mutation_p.R387H|RNF111_uc002afy.2_Missense_Mutation_p.R12H NM_017610 NP_060080 Q6ZNA4 RN111_HUMAN ring finger protein 111 861 multicellular organismal development|positive regulation of transcription, DNA-dependent cytoplasm|nucleus protein binding|ubiquitin-protein ligase activity|zinc ion binding ovary(2) 2 all cancers(107;0.194) CCTCACATCCGTTACATTTCA 0.348000 NARG2 79664 broad.mit.edu 37 15 60741737 60741737 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr15:60741737C>A uc002agp.2 - 10 1664 c.1429G>T c.(1429-1431)GGC>TGC p.G477C NARG2_uc002ago.2_Missense_Mutation_p.G340C|NARG2_uc002agq.3_Missense_Mutation_p.G145C NM_024611 NP_078887 Q659A1 NARG2_HUMAN NMDA receptor regulated 2 isoform a 477 nucleus ovary(1)|lung(1) 2 TCCTCAGGGCCACCATCCATA 0.388000 PTPLAD1 51495 broad.mit.edu 37 15 65862541 65862541 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr15:65862541G>A uc002apc.2 + 8 921 c.773G>A c.(772-774)AGG>AAG p.R258K PTPLAD1_uc002apb.1_RNA|PTPLAD1_uc010uiw.1_Missense_Mutation_p.R203K NM_016395 NP_057479 Q9P035 HACD3_HUMAN protein tyrosine phosphatase-like A domain 258 Cytoplasmic (Potential). activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction endoplasmic reticulum membrane|integral to membrane GTPase activator activity|lyase activity|protein binding 0 GAAATTTTCAGGTGGGTAGAA 0.393000 CPEB1 64506 broad.mit.edu 37 15 83296110 83296110 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr15:83296110T>G uc002bit.2 - 2 341 c.204A>C c.(202-204)GAA>GAC p.E68D CPEB1_uc002biu.2_Missense_Mutation_p.E35D|CPEB1_uc010uof.1_5'UTR|CPEB1_uc002biv.2_Missense_Mutation_p.E8D NM_001079533 NP_001073001 Q9BZB8 CPEB1_HUMAN cytoplasmic polyadenylation element binding 8 mRNA processing|regulation of translation cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane nucleotide binding|RNA binding ovary(1)|breast(1) 2 BRCA - Breast invasive adenocarcinoma(143;0.229) TCCTTCCTGCTTCTTCTTCCT 0.393000 RGMA 56963 broad.mit.edu 37 15 93595502 93595502 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr15:93595502C>T uc002bss.1 - 3 638 c.366G>A c.(364-366)TCG>TCA p.S122S RGMA_uc002bsq.1_Silent_p.S106S|RGMA_uc010boi.1_Silent_p.S13S|RGMA_uc002bsr.1_Silent_p.S13S|RGMA_uc010urc.1_Silent_p.S130S NM_020211 NP_064596 Q96B86 RGMA_HUMAN RGM domain family, member A precursor 122 axon guidance anchored to membrane|endoplasmic reticulum|plasma membrane 0 Lung NSC(78;0.0542)|all_lung(78;0.0786) BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108) GGCGTGGCTGCGAGGTGGGGC 0.667000 NPW 283869 broad.mit.edu 37 16 2070128 2070128 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr16:2070128G>A uc002coh.3 + 1 608 c.226G>A c.(226-228)GAC>AAC p.D76N NM_001099456 NP_001092926 Q8N729 NPW_HUMAN neuropeptide W preproprotein 76 feeding behavior|neuropeptide signaling pathway extracellular region 0 ccTGGCCAGGGACACCCTCTC 0.597000 IRX5 10265 broad.mit.edu 37 16 54967412 54967412 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr16:54967412C>T uc002ehv.2 + 3 1079 c.1079C>T c.(1078-1080)CCA>CTA p.P360L IRX5_uc002ehw.2_Missense_Mutation_p.P294L NM_005853 NP_005844 P78411 IRX5_HUMAN iroquois homeobox protein 5 360 response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding 0 TCTCCATGCCCACCGTGTCCC 0.701000 DPEP3 64180 broad.mit.edu 37 16 68011675 68011675 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr16:68011675C>T uc002evc.3 - 6 983 c.889G>A c.(889-891)GAC>AAC p.D297N DPEP3_uc010cex.2_Missense_Mutation_p.D297N NM_022357 NP_071752 Q9H4B8 DPEP3_HUMAN dipeptidase 3 isoform a 272 meiosis anchored to membrane dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity breast(3) 3 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236) ATCAAGGTGTCCGATGCATAG 0.488000 CDH1 999 broad.mit.edu 37 16 68842415 68842415 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr16:68842415C>T uc002ewg.1 + 4 600 c.476C>T c.(475-477)CCT>CTT p.P159L CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.P159L NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 159 Cadherin 1.|Extracellular (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.V157_Q177del(1) breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) TGGGTTATTCCTCCCATCAGC 0.473000 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer YWHAE 7531 broad.mit.edu 37 17 1264561 1264561 + Missense_Mutation SNP A A T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr17:1264561A>T uc002fsj.2 - 4 555 c.403T>A c.(403-405)TTT>ATT p.F135I YWHAE_uc002fsk.2_Missense_Mutation_p.F113I|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_Intron NM_006761 NP_006752 P62258 1433E_HUMAN tyrosine 3/tryptophan 5 -monooxygenase 135 apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding lung(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) CCTGTGGCAAATTCTGCCAGA 0.388000 TP53 7157 broad.mit.edu 37 17 7578275 7578275 + Nonsense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr17:7578275G>A uc002gim.2 - 6 768 c.574C>T c.(574-576)CAG>TAG p.Q192* TP53_uc002gig.1_Nonsense_Mutation_p.Q192*|TP53_uc002gih.2_Nonsense_Mutation_p.Q192*|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Nonsense_Mutation_p.Q60*|TP53_uc010cng.1_Nonsense_Mutation_p.Q60*|TP53_uc002gii.1_Nonsense_Mutation_p.Q60*|TP53_uc010cnh.1_Nonsense_Mutation_p.Q192*|TP53_uc010cni.1_Nonsense_Mutation_p.Q192*|TP53_uc002gij.2_Nonsense_Mutation_p.Q192*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.Q99*|TP53_uc002gio.2_Nonsense_Mutation_p.Q60*|TP53_uc010vug.1_Nonsense_Mutation_p.Q153* NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 192 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). Q -> P (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> R (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (in a sporadic cancer; somatic mutation).|Q -> L (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; 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.Q192*(64)|p.0?(7)|p.Q192R(5)|p.A189_V197delAPPQHLIRV(4)|p.Q192H(3)|p.P191fs*53(2)|p.G187fs*16(2)|p.Q192Q(2)|p.P191del(2)|p.K164_P219del(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P191fs*15(1)|p.P191_Q192delPQ(1)|p.Q192>XXXXXXXXX(1)|p.Q192K(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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) ATAAGATGCTGAGGAGGGGCC 0.557000 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) SEZ6 124925 broad.mit.edu 37 17 27284988 27284988 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr17:27284988T>C uc002hdp.2 - 11 2473 c.2279A>G c.(2278-2280)GAG>GGG p.E760G SEZ6_uc010crx.1_5'Flank|SEZ6_uc002hdm.2_RNA|SEZ6_uc010cry.1_Missense_Mutation_p.E760G|SEZ6_uc002hdq.1_Missense_Mutation_p.E635G NM_178860 NP_849191 Q53EL9 SEZ6_HUMAN seizure related 6 homolog isoform 1 760 Extracellular (Potential).|Sushi 3. integral to membrane|plasma membrane large_intestine(1)|central_nervous_system(1) 2 Lung NSC(42;0.0137) Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111) GGGCAGGTCCTCACTCCAAGT 0.468000 ANKRD13B 124930 broad.mit.edu 37 17 27939281 27939281 + Silent SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr17:27939281A>G uc002hei.2 + 11 1361 c.1248A>G c.(1246-1248)CCA>CCG p.P416P ANKRD13B_uc002heh.2_Silent_p.P284P|ANKRD13B_uc002hej.2_RNA|ANKRD13B_uc002hek.2_5'Flank NM_152345 NP_689558 Q86YJ7 AN13B_HUMAN ankyrin repeat domain 13B 416 0 CTGGCTTCCCAGTTAAGATTG 0.622000 NEUROD2 4761 broad.mit.edu 37 17 37762570 37762570 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr17:37762570C>T uc002hry.2 - 2 483 c.283G>A c.(283-285)GAG>AAG p.E95K NM_006160 NP_006151 Q15784 NDF2_HUMAN neurogenic differentiation 2 95 cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter nucleus E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity 0 Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052) UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664) CCCTCCGCCTCGTCCAGTCCT 0.502000 KRT10 3858 broad.mit.edu 37 17 38978350 38978350 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr17:38978350T>C uc002hvi.2 - 1 514 c.488A>G c.(487-489)AAA>AGA p.K163R KRT10_uc010cxd.2_5'Flank|TMEM99_uc002hvj.1_Intron NM_000421 NP_000412 P13645 K1C10_HUMAN keratin 10 163 Coil 1A.|Rod.|Gly-rich. epidermis development protein binding|structural constituent of epidermis 0 Breast(137;0.000301) AGCCCGAACTTTGTCCAAGTA 0.418000 KRT20 54474 broad.mit.edu 37 17 39041346 39041346 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr17:39041346G>A uc002hvl.2 - 1 134 c.92C>T c.(91-93)ACG>ATG p.T31M NM_019010 NP_061883 P35900 K1C20_HUMAN keratin 20 31 Head. apoptosis|intermediate filament organization Golgi apparatus|intermediate filament protein binding|structural constituent of cytoskeleton large_intestine(1)|kidney(1)|skin(1) 3 Breast(137;0.000301)|Ovarian(249;0.15) GCTGGGTGTCGTCCCGAGGCG 0.607000 CNTNAP1 8506 broad.mit.edu 37 17 40839908 40839908 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr17:40839908C>T uc002iay.2 + 8 1431 c.1215C>T c.(1213-1215)GAC>GAT p.D405D CNTNAP1_uc010wgs.1_RNA NM_003632 NP_003623 P78357 CNTP1_HUMAN contactin associated protein 1 precursor 405 Laminin G-like 2.|Extracellular (Potential). axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity ovary(3)|breast(3)|upper_aerodigestive_tract(1)|lung(1) 8 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GTCTGGGGGACGGGCTGGGCC 0.652000 SOST 50964 broad.mit.edu 37 17 41833119 41833119 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr17:41833119T>G uc002iec.1 - 2 280 c.233A>C c.(232-234)TAC>TCC p.Y78S NM_025237 NP_079513 Q9BQB4 SOST_HUMAN sclerostin precursor 78 negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway heparin binding|protein binding 0 Breast(137;0.00725) UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741) GCGGCAGCTGTACTCGGACAC 0.726000 MPP3 4356 broad.mit.edu 37 17 41907136 41907136 + Silent SNP C C T rs34890360 TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr17:41907136C>T uc002iei.3 - 7 493 c.327G>A c.(325-327)ACG>ACA p.T109T MPP3_uc002ieh.2_Silent_p.T134T|MPP3_uc002iej.2_RNA|MPP3_uc010czi.1_Silent_p.T109T|MPP3_uc010wik.1_Silent_p.T134T|MPP3_uc010czj.1_3'UTR NM_001932 NP_001923 Q13368 MPP3_HUMAN palmitoylated membrane protein 3 109 L27 2. signal transduction cell surface|integral to plasma membrane guanylate kinase activity p.T109T(1) large_intestine(1)|skin(1) 2 Breast(137;0.00394) BRCA - Breast invasive adenocarcinoma(366;0.119) TCTGGGCAACCGTGTCATGTA 0.572000 BTBD17 388419 broad.mit.edu 37 17 72353345 72353345 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr17:72353345C>T uc002jkn.2 - 3 888 c.888G>A c.(886-888)TCG>TCA p.S296S NM_001080466 NP_001073935 A6NE02 BTBDH_HUMAN BTB (POZ) domain containing 17 precursor 296 extracellular region 0 AGTGCAGCGGCGACGCGGCGT 0.716000 TMEM104 54868 broad.mit.edu 37 17 72832361 72832361 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr17:72832361C>T uc002jls.3 + 10 1188 c.1026C>T c.(1024-1026)TTC>TTT p.F342F TMEM104_uc010wrf.1_Intron|TMEM104_uc010wrg.1_Intron|TMEM104_uc010dfx.2_Silent_p.F342F NM_017728 NP_060198 Q8NE00 TM104_HUMAN transmembrane protein 104 342 Extracellular (Potential). integral to membrane 0 all_lung(278;0.23) CCCTCAACTTCGCGCGCTGTG 0.612000 PTPRM 5797 broad.mit.edu 37 18 8343485 8343485 + Missense_Mutation SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr18:8343485C>G uc002knn.3 + 21 3485 c.2982C>G c.(2980-2982)ATC>ATG p.I994M PTPRM_uc010dkv.2_Missense_Mutation_p.I1007M|PTPRM_uc010wzl.1_Missense_Mutation_p.I781M NM_002845 NP_002836 P28827 PTPRM_HUMAN protein tyrosine phosphatase, receptor type, M 994 Tyrosine-protein phosphatase 1.|Cytoplasmic (Potential). homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm cadherin binding|transmembrane receptor protein tyrosine phosphatase activity lung(3)|ovary(2)|central_nervous_system(1) 6 Colorectal(10;0.234) CTGCAAGTATCATCATGGTGA 0.453000 CEP192 55125 broad.mit.edu 37 18 13049226 13049226 + Silent SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr18:13049226T>G uc010xac.1 + 16 2516 c.2436T>G c.(2434-2436)TCT>TCG p.S812S CEP192_uc010dlf.1_RNA|CEP192_uc010xad.1_Silent_p.S337S|CEP192_uc002kru.2_RNA|CEP192_uc002krs.1_Silent_p.S553S NM_032142 NP_115518 E9PF99 E9PF99_HUMAN centrosomal protein 192kDa 812 ovary(4)|pancreas(1) 5 GGGATTTATCTTTGCCCAAAG 0.373000 CTAGE1 64693 broad.mit.edu 37 18 19995611 19995611 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr18:19995611C>T uc002ktv.1 - 1 2268 c.2164G>A c.(2164-2166)GTC>ATC p.V722I NM_172241 NP_758441 Q96RT6 CTGE2_HUMAN cutaneous T-cell lymphoma-associated antigen 1 722 Pro-rich. integral to membrane ovary(1) 1 all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135) GGTAAATAGACATTTCTCATT 0.507000 ZNF521 25925 broad.mit.edu 37 18 22806293 22806293 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr18:22806293T>C uc002kvk.2 - 4 1836 c.1589A>G c.(1588-1590)GAG>GGG p.E530G ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.E530G|ZNF521_uc002kvl.2_Missense_Mutation_p.E310G NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 530 C2H2-type 12. 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) TCTAATATGCTCTTCCAGGGA 0.458000 T PAX5 ALL ZNF521 25925 broad.mit.edu 37 18 22806855 22806855 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr18:22806855T>C uc002kvk.2 - 4 1274 c.1027A>G c.(1027-1029)AGC>GGC p.S343G ZNF521_uc010xbe.1_RNA|ZNF521_uc010dly.2_Missense_Mutation_p.S343G|ZNF521_uc002kvl.2_Missense_Mutation_p.S123G NM_015461 NP_056276 Q96K83 ZN521_HUMAN zinc finger protein 521 343 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) AGGGAAGGGCTGTTGCTGTGA 0.547000 T PAX5 ALL CELF4 56853 broad.mit.edu 37 18 34833871 34833871 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr18:34833871G>A uc002lae.2 - 12 1760 c.1364C>T c.(1363-1365)GCG>GTG p.A455V CELF4_uc010dnd.1_Missense_Mutation_p.A453V|CELF4_uc002lag.2_Missense_Mutation_p.A417V|CELF4_uc002laf.2_Missense_Mutation_p.A449V NM_020180 NP_064565 Q9BZC1 CELF4_HUMAN bruno-like 4, RNA binding protein isoform 1 455 RRM 3. embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome cytoplasm|nucleus BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding ovary(2) 2 GGCGGTCTGCGCGCTGGCCGG 0.532000 SYT4 6860 broad.mit.edu 37 18 40854178 40854178 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr18:40854178C>A uc002law.2 - 2 585 c.216G>T c.(214-216)AAG>AAT p.K72N SYT4_uc010dng.2_Intron|SYT4_uc010xcm.1_Missense_Mutation_p.K54N|SYT4_uc010dnh.2_Intron NM_020783 NP_065834 Q9H2B2 SYT4_HUMAN synaptotagmin IV 72 Cytoplasmic (Potential). cell junction|integral to membrane|synaptic vesicle membrane transporter activity skin(5) 5 CTGCTCCAAACTTCTTTTTGC 0.363000 KIAA1632 57724 broad.mit.edu 37 18 43510773 43510773 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr18:43510773C>T uc002lbm.2 - 12 2381 c.2281G>A c.(2281-2283)GAG>AAG p.E761K KIAA1632_uc002lbo.1_Missense_Mutation_p.E761K NM_020964 NP_066015 Q9HCE0 EPG5_HUMAN hypothetical protein LOC57724 761 autophagy 0 AGACACTTCTCAAAGTTGGTA 0.378000 DCC 1630 broad.mit.edu 37 18 51013309 51013309 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr18:51013309C>T uc002lfe.1 + 26 4466 c.3879C>T c.(3877-3879)TTC>TTT p.F1293F DCC_uc010dpf.1_Silent_p.F928F NM_005215 NP_005206 P43146 DCC_HUMAN netrin receptor DCC precursor 1293 Cytoplasmic (Potential). apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development cytosol|integral to membrane skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 17 all_cancers(7;0.11)|all_epithelial(6;0.00126) Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942) ACCGAGGTTTCGGAGCAGGAA 0.473000 RNF152 220441 broad.mit.edu 37 18 59483266 59483266 + Missense_Mutation SNP C C A rs146480133 TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr18:59483266C>A uc002lih.1 - 2 843 c.431G>T c.(430-432)GGT>GTT p.G144V NM_173557 NP_775828 Q8N8N0 RN152_HUMAN ring finger protein 152 144 apoptosis|protein K48-linked ubiquitination integral to membrane|lysosomal membrane ubiquitin-protein ligase activity|zinc ion binding breast(1) 1 Colorectal(73;0.186) GGGAGCCCCACCTTGCAGAGG 0.677000 ZNF236 7776 broad.mit.edu 37 18 74620433 74620433 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr18:74620433G>A uc002lmi.2 + 14 2647 c.2449G>A c.(2449-2451)GAG>AAG p.E817K ZNF236_uc002lmj.2_RNA NM_007345 NP_031371 Q9UL36 ZN236_HUMAN zinc finger protein 236 817 cellular response to glucose stimulus nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(4) 4 Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132) OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686) AGCGAACCCCGAGGCCATGCT 0.627000 THEG 51298 broad.mit.edu 37 19 367066 367066 + Silent SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr19:367066G>T uc002lol.2 - 7 951 c.912C>A c.(910-912)GCC>GCA p.A304A THEG_uc002lom.2_Silent_p.A280A NM_016585 NP_057669 Q9P2T0 THEG_HUMAN Theg homolog isoform 1 304 THEG 5. cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis nucleus protein binding ovary(1) 1 all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CCTACTTACTGGCCAAGTGAA 0.572000 MKNK2 2872 broad.mit.edu 37 19 2043500 2043500 + Splice_Site SNP A A T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr19:2043500A>T uc002lus.2 - 6 664 c.419_splice c.e6+1 p.R140_splice MKNK2_uc002luq.1_5'Flank|MKNK2_uc010xgu.1_Splice_Site|MKNK2_uc010xgv.1_Splice_Site_p.R9_splice|MKNK2_uc002lur.2_Splice_Site_p.R140_splice|MKNK2_uc002lut.1_5'Flank NM_199054 NP_951009 Q9HBH9 MKNK2_HUMAN MAP kinase-interacting serine/threonine kinase 2 cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation ATP binding|metal ion binding|protein serine/threonine kinase activity lung(1)|breast(1) 2 Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) TGGCTCACCTACCTGTGTCCC 0.587000 PIP5K1C 23396 broad.mit.edu 37 19 3656413 3656413 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr19:3656413C>A uc002lyj.1 - 6 668 c.611G>T c.(610-612)GGC>GTC p.G204V PIP5K1C_uc010xhq.1_Missense_Mutation_p.G204V|PIP5K1C_uc010xhr.1_Missense_Mutation_p.G204V NM_012398 NP_036530 O60331 PI51C_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type 204 PIPK. axon guidance cytosol|plasma membrane 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding stomach(2)|skin(2) 4 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183) CATGTAGTAGCCAGGGAGCAG 0.637000 ZBTB7A 51341 broad.mit.edu 37 19 4047779 4047779 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr19:4047779C>T uc002lzh.2 - 3 1801 c.1726G>A c.(1726-1728)GAC>AAC p.D576N ZBTB7A_uc002lzi.2_Missense_Mutation_p.D576N NM_015898 NP_056982 O95365 ZBT7A_HUMAN zinc finger and BTB domain containing 7A 576 cell differentiation|multicellular organismal development|transcription, DNA-dependent nucleus DNA binding|histone acetyltransferase binding|zinc ion binding pancreas(1)|skin(1) 2 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18) AAGTTACCGTCGGTGGCGGCC 0.542000 SAFB 6294 broad.mit.edu 37 19 5668283 5668283 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr19:5668283G>A uc002mcf.2 + 21 2782 c.2729G>A c.(2728-2730)CGC>CAC p.R910H SAFB_uc002mcg.2_Missense_Mutation_p.R912H|SAFB_uc002mce.3_Missense_Mutation_p.R911H|SAFB_uc010xir.1_Missense_Mutation_p.R909H|SAFB_uc010xis.1_Missense_Mutation_p.R843H|SAFB_uc010xit.1_Missense_Mutation_p.R754H|SAFB_uc010xiu.1_Missense_Mutation_p.R711H NM_002967 NP_002958 Q15424 SAFB1_HUMAN scaffold attachment factor B 910 Interaction with SAFB2. chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus double-stranded DNA binding|nucleotide binding|protein binding|RNA binding ovary(1)|liver(1)|skin(1) 3 UCEC - Uterine corpus endometrioid carcinoma (162;0.000222) AGCGATGCCCGCTTCACTCGC 0.592000 TUBB4 10382 broad.mit.edu 37 19 6495840 6495840 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr19:6495840C>A uc002mfg.1 - 4 777 c.670G>T c.(670-672)GAC>TAC p.D224Y TUBB4_uc002mff.1_Missense_Mutation_p.D152Y|MIR220B_hsa-mir-220b|MI0005529_5'Flank NM_006087 NP_006078 P04350 TBB4_HUMAN tubulin, beta 4 224 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity ovary(2) 2 Hepatocellular(1079;0.00213)|Renal(1328;0.0183) Lung(535;3.23e-05)|STAD - Stomach adenocarcinoma(1328;8.24e-05)|GBM - Glioblastoma multiforme(1328;0.00839)|READ - Rectum adenocarcinoma(264;0.155) TGGTTGAGGTCCCCGTAGGTG 0.627000 C3 718 broad.mit.edu 37 19 6707206 6707206 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr19:6707206C>T uc002mfm.2 - 17 2188 c.2126G>A c.(2125-2127)CGC>CAC p.R709H NM_000064 NP_000055 P01024 CO3_HUMAN complement component 3 precursor 709 Anaphylatoxin-like. complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production extracellular space endopeptidase inhibitor activity|receptor binding skin(3)|ovary(1)|pancreas(1) 5 GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661) ACGGGTCCGGCGCTGGCACGA 0.662000 ZNF358 140467 broad.mit.edu 37 19 7584566 7584566 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr19:7584566C>T uc002mgn.2 + 2 608 c.438C>T c.(436-438)AGC>AGT p.S146S MCOLN1_uc010dvh.1_5'Flank|MCOLN1_uc002mgo.2_5'Flank|MCOLN1_uc002mgp.2_5'Flank NM_018083 NP_060553 Q9NW07 ZN358_HUMAN zinc finger protein 358 146 embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 cccccgccagcccgccccggc 0.602000 OR7D4 125958 broad.mit.edu 37 19 9325365 9325365 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr19:9325365C>T uc002mla.1 - 1 149 c.149G>A c.(148-150)AGC>AAC p.S50N NM_001005191 NP_001005191 Q8NG98 OR7D4_HUMAN olfactory receptor, family 7, subfamily D, 50 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|central_nervous_system(1)|skin(1) 4 GGAGTCAGAGCTGACGGCCAG 0.547000 ZNF85 7639 broad.mit.edu 37 19 21131694 21131694 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr19:21131694A>C uc002npg.3 + 4 501 c.374A>C c.(373-375)AAG>ACG p.K125T ZNF85_uc010ecn.2_Missense_Mutation_p.K60T|ZNF85_uc010eco.2_Missense_Mutation_p.K73T|ZNF85_uc002npi.2_Missense_Mutation_p.K66T NM_003429 NP_003420 Q03923 ZNF85_HUMAN zinc finger protein 85 125 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding central_nervous_system(1) 1 GATGAGTGTAAGATGCACAAA 0.323000 ZNF208 7757 broad.mit.edu 37 19 22157195 22157195 + Nonsense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr19:22157195G>T uc002nqp.2 - 4 790 c.641C>A c.(640-642)TCA>TAA p.S214* ZNF208_uc002nqo.1_Intron|ZNF208_uc010ecw.1_5'Flank NM_007153 NP_009084 zinc finger protein 208 ovary(5)|skin(2) 7 all_lung(12;0.0961)|Lung NSC(12;0.103) AGTAAGGGTTGAGGACCAGTT 0.358000 ZNF257 113835 broad.mit.edu 37 19 22271400 22271400 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr19:22271400A>C uc010ecx.2 + 4 1017 c.848A>C c.(847-849)AAG>ACG p.K283T ZNF257_uc010ecy.2_Missense_Mutation_p.K251T NM_033468 NP_258429 Q9Y2Q1 ZN257_HUMAN zinc finger protein 257 283 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_lung(12;0.0961)|Lung NSC(12;0.103) AATAGAGAGAAGCCCTTCAAA 0.388000 ZNF790 388536 broad.mit.edu 37 19 37310610 37310610 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr19:37310610T>G uc002oew.2 - 5 755 c.636A>C c.(634-636)GAA>GAC p.E212D uc002oev.1_Intron NM_206894 NP_996777 Q6PG37 ZN790_HUMAN zinc finger protein 790 212 C2H2-type 1; degenerate. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|skin(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065) ATTGAATAACTTCTGAATCAG 0.338000 ZNF296 162979 broad.mit.edu 37 19 45575376 45575376 + Missense_Mutation SNP G G A rs143888878 TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr19:45575376G>A uc002pao.2 - 3 968 c.911C>T c.(910-912)CCG>CTG p.P304L NM_145288 NP_660331 Q8WUU4 ZN296_HUMAN zinc finger protein 296 304 regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 AGCCGGCTCCGGAGGGGCTGC 0.706000 PRR12 57479 broad.mit.edu 37 19 50098208 50098208 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr19:50098208G>A uc002poo.3 + 4 616 c.616G>A c.(616-618)GAG>AAG p.E206K NM_020719 NP_065770 Q9ULL5 PRR12_HUMAN proline rich 12 Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment DNA binding central_nervous_system(1)|pancreas(1) 2 all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887) OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132) ACTGGGCTTCGAGCGCCTGGC 0.701000 NR1H2 7376 broad.mit.edu 37 19 50885722 50885722 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr19:50885722C>T uc010enw.2 + 11 1525 c.1249C>T c.(1249-1251)CGC>TGC p.R417C NR1H2_uc002prv.3_RNA|NR1H2_uc002prz.3_Missense_Mutation_p.R372C|NR1H2_uc002psa.3_Missense_Mutation_p.R319C|POLD1_uc002psb.3_5'Flank|POLD1_uc002psc.3_5'Flank|POLD1_uc010enx.2_5'Flank NM_007121 NP_009052 P55055 NR1H2_HUMAN nuclear receptor subfamily 1, group H, member 2 416 Ligand-binding (Potential). negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding 0 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186) GGACCAGCTGCGCTTCCCGCG 0.677000 ZNF615 284370 broad.mit.edu 37 19 52497583 52497583 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr19:52497583T>C uc002pye.1 - 6 1038 c.746A>G c.(745-747)GAC>GGC p.D249G ZNF615_uc002pyf.1_Missense_Mutation_p.D260G|ZNF615_uc002pyg.1_Missense_Mutation_p.D141G|ZNF615_uc002pyh.1_Missense_Mutation_p.D260G|ZNF615_uc010epi.1_Missense_Mutation_p.D256G|ZNF615_uc010ydg.1_Missense_Mutation_p.D254G NM_198480 NP_940882 Q8N8J6 ZN615_HUMAN zinc finger protein 615 249 C2H2-type 2. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(4)|skin(1) 5 all_neural(266;0.117) GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019) TCTCTGATGGTCCATTAGTCT 0.378000 ZNF606 80095 broad.mit.edu 37 19 58491010 58491010 + Silent SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr19:58491010A>G uc002qqw.2 - 7 1656 c.1038T>C c.(1036-1038)AAT>AAC p.N346N ZNF606_uc010yhp.1_Silent_p.N256N NM_025027 NP_079303 Q8WXB4 ZN606_HUMAN zinc finger protein 606 346 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding upper_aerodigestive_tract(1)|ovary(1) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168) ATTCTTTGTAATTATACTGGT 0.323000 KCNK3 3777 broad.mit.edu 37 2 26950835 26950835 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:26950835T>C uc002rhn.2 + 2 747 c.584T>C c.(583-585)ATC>ACC p.I195T NM_002246 NP_002237 O14649 KCNK3_HUMAN potassium channel, subfamily K, member 3 195 synaptic transmission integral to plasma membrane ovary(1) 1 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TACTGCTTCATCACCCTCACC 0.612000 SLC8A1 6546 broad.mit.edu 37 2 40657239 40657239 + Missense_Mutation SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:40657239A>G uc002rrx.2 - 1 206 c.182T>C c.(181-183)TTG>TCG p.L61S SLC8A1_uc002rry.2_Missense_Mutation_p.L61S|SLC8A1_uc002rrz.2_Missense_Mutation_p.L61S|SLC8A1_uc002rsa.2_Missense_Mutation_p.L61S|SLC8A1_uc002rsd.3_Missense_Mutation_p.L61S|SLC8A1_uc002rsb.1_Missense_Mutation_p.L61S|SLC8A1_uc010fan.1_Missense_Mutation_p.L61S|SLC8A1_uc002rsc.1_Missense_Mutation_p.L61S NM_021097 NP_066920 P32418 NAC1_HUMAN solute carrier family 8 (sodium/calcium 61 Extracellular (Potential). cell communication|muscle contraction|platelet activation integral to plasma membrane calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding ovary(1)|kidney(1)|central_nervous_system(1)|skin(1) 4 Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159) CCAAATGGGCAAAATCACCCC 0.428000 PREPL 9581 broad.mit.edu 37 2 44554027 44554027 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:44554027G>A uc002ruf.2 - 10 1605 c.1570C>T c.(1570-1572)CGC>TGC p.R524C PREPL_uc002rug.2_Missense_Mutation_p.R458C|PREPL_uc002ruh.2_Missense_Mutation_p.R462C|PREPL_uc010fax.2_Missense_Mutation_p.R524C|PREPL_uc002rui.3_Missense_Mutation_p.R435C|PREPL_uc002ruj.1_Missense_Mutation_p.R435C|PREPL_uc002ruk.1_Missense_Mutation_p.R524C NM_006036 NP_006027 Q4J6C6 PPCEL_HUMAN prolyl endopeptidase-like isoform C 524 proteolysis cytosol serine-type endopeptidase activity ovary(1) 1 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) TTAGTTAGGCGGCCATCAGCG 0.453000 PNPT1 87178 broad.mit.edu 37 2 55920812 55920812 + Silent SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:55920812C>G uc002rzf.2 - 1 200 c.147G>C c.(145-147)GTG>GTC p.V49V PNPT1_uc002rzg.2_RNA NM_033109 NP_149100 Q8TCS8 PNPT1_HUMAN polyribonucleotide nucleotidyltransferase 1 49 mRNA catabolic process|RNA processing plasma membrane 3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding 0 LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132) TGCCTAAGTCCACGGCCACAG 0.562000 KRCC1 51315 broad.mit.edu 37 2 88327339 88327339 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:88327339C>T uc002sso.1 - 4 1138 c.744G>A c.(742-744)GAG>GAA p.E248E KRCC1_uc002ssp.1_Silent_p.E248E NM_016618 NP_057702 Q9NPI7 KRCC1_HUMAN lysine-rich coiled-coil 1 248 Potential. ovary(1) 1 AAAGCATTTCCTCCTCTGTCC 0.378000 LMAN2L 81562 broad.mit.edu 37 2 97400258 97400258 + Nonsense_Mutation SNP A A T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:97400258A>T uc002swu.2 - 3 348 c.312T>A c.(310-312)TGT>TGA p.C104* LMAN2L_uc002swv.2_Nonsense_Mutation_p.C104*|LMAN2L_uc010yut.1_5'UTR|LMAN2L_uc010yuu.1_5'UTR|LMAN2L_uc010yuv.1_5'UTR|LMAN2L_uc010yuw.1_5'UTR|LMAN2L_uc002sww.2_5'UTR|LMAN2L_uc010yux.1_5'UTR NM_030805 NP_110432 Q9H0V9 LMA2L_HUMAN lectin, mannose-binding 2-like isoform 2 104 L-type lectin-like.|Lumenal (Potential). ER to Golgi vesicle-mediated transport|protein folding|protein transport endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane mannose binding|metal ion binding 0 CTCTCAGGAAACATGGCTAAA 0.443000 C2orf55 343990 broad.mit.edu 37 2 99439596 99439596 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:99439596C>T uc002szf.1 - 7 1434 c.1140G>A c.(1138-1140)CCG>CCA p.P380P NM_207362 NP_997245 Q6NV74 CB055_HUMAN hypothetical protein LOC343990 380 Pro-rich. 0 CCGGGGCACACGGGCCTGCGG 0.751000 EDAR 10913 broad.mit.edu 37 2 109524386 109524386 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:109524386G>A uc002teq.3 - 10 1324 c.893C>T c.(892-894)CCG>CTG p.P298L EDAR_uc010fjn.2_Missense_Mutation_p.P330L|EDAR_uc010yws.1_Missense_Mutation_p.P330L NM_022336 NP_071731 Q9UNE0 EDAR_HUMAN ectodysplasin A receptor precursor 298 Cytoplasmic (Potential). apoptosis|cell differentiation integral to membrane protein binding|transmembrane receptor activity skin(1) 1 GCACAGCTCCGGGGAGCCCTG 0.622000 ACOXL 55289 broad.mit.edu 37 2 111542390 111542390 + Missense_Mutation SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:111542390A>G uc002tgr.3 + 3 381 c.157A>G c.(157-159)AAG>GAG p.K53E ACOXL_uc010fkc.2_Missense_Mutation_p.K53E|ACOXL_uc010yxk.1_Missense_Mutation_p.K53E NM_001105516 NP_001098986 Q9NUZ1 ACOXL_HUMAN acyl-Coenzyme A oxidase-like 2 53 fatty acid beta-oxidation peroxisome acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity 0 CACAGGAGTGAAGGTGAGAGG 0.498000 GPR148 344561 broad.mit.edu 37 2 131486823 131486823 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:131486823C>A uc002trv.1 + 1 101 c.99C>A c.(97-99)AGC>AGA p.S33R NM_207364 NP_997247 Q8TDV2 GP148_HUMAN G protein-coupled receptor 148 33 Extracellular (Potential). CMPQAASNTSLGLGDLRVPSSMLYWLFLPSSLLAAA -> S S (in Ref. 2; AAP34196). integral to membrane|plasma membrane G-protein coupled receptor activity skin(1) 1 Colorectal(110;0.1) AAGCAGCCAGCAACACTTCCT 0.627000 THSD7B 80731 broad.mit.edu 37 2 137852666 137852666 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:137852666G>A uc002tva.1 + 3 1081 c.1081G>A c.(1081-1083)GGA>AGA p.G361R THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.G251R NM_001080427 NP_001073896 thrombospondin, type I, domain containing 7B ovary(4)|central_nervous_system(2)|pancreas(1) 7 BRCA - Breast invasive adenocarcinoma(221;0.19) CATTGTTGAAGGAGAACTTCT 0.448000 LRP1B 53353 broad.mit.edu 37 2 141299347 141299347 + Splice_Site SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:141299347C>A uc002tvj.1 - 44 8359 c.7387_splice c.e44+1 p.C2463_splice NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B protein transport|receptor-mediated endocytosis integral to membrane calcium ion binding lung(17)|skin(12)|ovary(12)|pancreas(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|liver(1)|kidney(1) 50 all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101) UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103) TTATAACTTACAGCTATTGGT 0.338000 TSP Lung(27;0.18) BAZ2B 29994 broad.mit.edu 37 2 160295025 160295025 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:160295025G>A uc002uao.2 - 8 1434 c.1082C>T c.(1081-1083)TCT>TTT p.S361F BAZ2B_uc002uap.2_Missense_Mutation_p.S359F|BAZ2B_uc002uas.1_Missense_Mutation_p.S298F|BAZ2B_uc002uau.1_Missense_Mutation_p.S359F|BAZ2B_uc002uaq.1_Missense_Mutation_p.S289F|BAZ2B_uc002uat.3_3'UTR|BAZ2B_uc010fop.1_Missense_Mutation_p.S359F NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 361 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding ovary(3)|skin(1) 4 CTTTGCCTGAGAGCTTTGGAA 0.443000 TTN 7273 broad.mit.edu 37 2 179398461 179398461 + Nonsense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:179398461G>T uc010zfg.1 - 307 95401 c.95177C>A c.(95176-95178)TCA>TAA p.S31726* uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Nonsense_Mutation_p.S25421*|TTN_uc010zfi.1_Nonsense_Mutation_p.S25354*|TTN_uc010zfj.1_Nonsense_Mutation_p.S25229* NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 32653 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) TTTCTGACCTGATTTATACCA 0.398000 TTN 7273 broad.mit.edu 37 2 179443586 179443586 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:179443586T>C uc010zfg.1 - 269 60691 c.60467A>G c.(60466-60468)TAT>TGT p.Y20156C uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.Y13851C|TTN_uc010zfi.1_Missense_Mutation_p.Y13784C|TTN_uc010zfj.1_Missense_Mutation_p.Y13659C|uc002umv.1_5'UTR NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 21083 ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1) 153 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CCCTACACCATATTTATTTTC 0.458000 HECW2 57520 broad.mit.edu 37 2 197185083 197185083 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:197185083A>C uc002utm.1 - 8 1148 c.965T>G c.(964-966)GTT>GGT p.V322G HECW2_uc002utl.1_Intron NM_020760 NP_065811 Q9P2P5 HECW2_HUMAN HECT, C2 and WW domain containing E3 ubiquitin 322 protein ubiquitination involved in ubiquitin-dependent protein catabolic process cytoplasm ubiquitin-protein ligase activity skin(5)|ovary(5)|lung(4)|pancreas(2)|central_nervous_system(1)|kidney(1) 18 AGAAGACGTAACCTCCACTTT 0.408000 ALS2CR12 130540 broad.mit.edu 37 2 202208958 202208958 + Missense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:202208958G>T uc010ftg.2 - 6 841 c.397C>A c.(397-399)CAA>AAA p.Q133K ALS2CR12_uc002uya.3_Missense_Mutation_p.Q133K|ALS2CR12_uc010fth.2_RNA NM_139163 NP_631902 Q96Q35 AL2SB_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 133 Potential. regulation of GTPase activity protein binding p.Q133H(1) ovary(1)|breast(1)|central_nervous_system(1) 3 TCTGAGATTTGCTCTTCTAGG 0.433000 CRYGD 1421 broad.mit.edu 37 2 208988868 208988868 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:208988868C>T uc002vcn.3 - 2 336 c.220G>A c.(220-222)GAC>AAC p.D74N NM_006891 NP_008822 P07320 CRGD_HUMAN crystallin, gamma D 74 Beta/gamma crystallin 'Greek key' 2. cellular response to reactive oxygen species|visual perception soluble fraction protein binding|structural constituent of eye lens 0 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) CGGACCGAGTCGCTGAGGCCC 0.612000 ERBB4 2066 broad.mit.edu 37 2 212251789 212251789 + Silent SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:212251789T>C uc002veg.1 - 27 3368 c.3270A>G c.(3268-3270)GAA>GAG p.E1090E ERBB4_uc002veh.1_Silent_p.E1074E|ERBB4_uc010zji.1_Silent_p.E1080E|ERBB4_uc010zjj.1_Silent_p.E1064E NM_005235 NP_005226 Q15303 ERBB4_HUMAN v-erb-a erythroblastic leukemia viral oncogene 1090 Cytoplasmic (Potential). cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway basolateral plasma membrane|cytoplasm|integral to membrane|nucleus ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity lung(21)|skin(5)|stomach(2)|breast(2)|upper_aerodigestive_tract(1)|large_intestine(1)|pancreas(1) 33 Renal(323;0.06)|Lung NSC(271;0.197) UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266) CCACAGGAGCTTCTGGAATTG 0.502000 TSP Lung(8;0.080) CRYBA2 1412 broad.mit.edu 37 2 219856890 219856890 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:219856890G>A uc002vjj.1 - 3 272 c.237C>T c.(235-237)AGC>AGT p.S79S CRYBA2_uc002vjk.1_Silent_p.S79S NM_057094 NP_476435 P53672 CRBA2_HUMAN crystallin, beta A2 79 Beta/gamma crystallin 'Greek key' 2. structural constituent of eye lens 0 Renal(207;0.0474) Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) CACTCCAGGCGCTCCAGCGAG 0.612000 DNER 92737 broad.mit.edu 37 2 230223363 230223363 + Nonsense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:230223363C>A uc002vpv.2 - 13 2254 c.2107G>T c.(2107-2109)GGA>TGA p.G703* NM_139072 NP_620711 Q8NFT8 DNER_HUMAN delta-notch-like EGF repeat-containing 703 Cytoplasmic (Potential). central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly dendrite|early endosome|integral to membrane|plasma membrane calcium ion binding|clathrin binding|transmembrane receptor activity lung(5)|ovary(2)|skin(1) 8 all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175) Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375) GATTTCTTTCCAAACCTGAAA 0.363000 SP100 6672 broad.mit.edu 37 2 231371021 231371021 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:231371021C>A uc002vqt.2 + 22 2015 c.1874C>A c.(1873-1875)ACC>AAC p.T625N SP100_uc002vqs.2_Missense_Mutation_p.T625N|SP100_uc002vqu.1_Missense_Mutation_p.T625N|SP100_uc010fxp.1_5'UTR NM_003113 NP_003104 P23497 SP100_HUMAN nuclear antigen Sp100 isoform 2 625 SAND. DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon cytoplasm|nuclear periphery|nucleolus|PML body chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding ovary(4)|central_nervous_system(1) 5 Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167) Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942) CTTACAGGAACCTCAAAGAAG 0.507000 ANO7 50636 broad.mit.edu 37 2 242155602 242155602 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr2:242155602G>A uc002wax.2 + 19 2186 c.2083G>A c.(2083-2085)GAC>AAC p.D695N NM_001001891 NP_001001891 Q6IWH7 ANO7_HUMAN transmembrane protein 16G isoform NGEP long 695 Extracellular (Potential). cell junction|chloride channel complex|cytosol chloride channel activity pancreas(2)|central_nervous_system(1) 3 CTGGGAGGACGACTATGAGCT 0.627000 C20orf160 140706 broad.mit.edu 37 20 30602748 30602748 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr20:30602748C>T uc002wxf.2 + 2 85 c.72C>T c.(70-72)GCC>GCT p.A24A NM_080625 NP_542192 Q9NUG4 CT160_HUMAN hypothetical protein LOC140706 24 central_nervous_system(3)|ovary(1) 4 TCCCCAAGGCCGGGCGCCGGG 0.582000 BLCAP 10904 broad.mit.edu 37 20 36147344 36147344 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr20:36147344G>A uc002xha.2 - 2 436 c.233C>T c.(232-234)TCG>TTG p.S78L BLCAP_uc002xhb.2_Missense_Mutation_p.S78L|BLCAP_uc002xhc.2_Missense_Mutation_p.S78L|NNAT_uc002xhd.2_5'Flank|NNAT_uc002xhe.2_5'Flank NM_006698 NP_006689 P62952 BLCAP_HUMAN bladder cancer associated protein 78 apoptosis|cell cycle integral to membrane 0 Myeloproliferative disorder(115;0.00878) ATCATGCGCCGATTCTGGAAG 0.547000 SPINLW1 57119 broad.mit.edu 37 20 44174305 44174305 + Missense_Mutation SNP C C T rs112762127 byFrequency TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr20:44174305C>T uc002xou.2 - 2 228 c.196G>A c.(196-198)GGA>AGA p.G66R SPINLW1_uc010zxc.1_Missense_Mutation_p.G66R|SPINLW1_uc002xot.2_Missense_Mutation_p.G50R|SPINLW1_uc002xov.1_Missense_Mutation_p.G66R NM_020398 NP_065131 O95925 EPPI_HUMAN serine peptidase inhibitor-like, with Kunitz and 66 WAP. extracellular region serine-type endopeptidase inhibitor activity pancreas(1) 1 Myeloproliferative disorder(115;0.0122) CATTTTTTTCCGCAGCTGAAG 0.448000 KCNG1 3755 broad.mit.edu 37 20 49626481 49626481 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr20:49626481C>T uc002xwa.3 - 2 690 c.395G>A c.(394-396)CGC>CAC p.R132H KCNG1_uc002xwb.2_Missense_Mutation_p.R132H NM_002237 NP_002228 Q9UIX4 KCNG1_HUMAN potassium voltage-gated channel, subfamily G, 132 Cytoplasmic (Potential). voltage-gated potassium channel complex voltage-gated potassium channel activity ovary(1)|central_nervous_system(1) 2 CTTGCCCGCGCGCAGGAAGGT 0.647000 TMPRSS15 5651 broad.mit.edu 37 21 19653531 19653531 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr21:19653531A>C uc002ykw.2 - 22 2525 c.2494T>G c.(2494-2496)TTA>GTA p.L832V NM_002772 NP_002763 P98073 ENTK_HUMAN enterokinase precursor 832 Extracellular (Potential).|Peptidase S1. proteolysis brush border|integral to membrane scavenger receptor activity|serine-type endopeptidase activity ovary(5)|upper_aerodigestive_tract(1)|breast(1)|skin(1) 8 GATGGCTCTAAGTTTCTCCTG 0.373000 TIAM1 7074 broad.mit.edu 37 21 32493119 32493119 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr21:32493119C>T uc002yow.1 - 29 4815 c.4343G>A c.(4342-4344)CGG>CAG p.R1448Q TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.R1388Q NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1448 Poly-Arg. 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 AGCCAGCCGCCGCCTCCTCCT 0.537000 RFPL1 5988 broad.mit.edu 37 22 29837692 29837692 + Missense_Mutation SNP C C T rs142632131 byFrequency TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr22:29837692C>T uc003afn.2 + 2 744 c.535C>T c.(535-537)CGC>TGC p.R179C RFPL1S_uc003afm.1_RNA NM_021026 NP_066306 O75677 RFPL1_HUMAN ret finger protein-like 1 179 B30.2/SPRY. zinc ion binding 0 TACCTGTGGCCGCCACTACTG 0.567000 SUMF1 285362 broad.mit.edu 37 3 4494657 4494657 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr3:4494657G>A uc003bpz.1 - 2 372 c.347C>T c.(346-348)GCG>GTG p.A116V SUMF1_uc003bps.1_RNA|SUMF1_uc011ass.1_Missense_Mutation_p.A116V|SUMF1_uc010hby.1_Missense_Mutation_p.A116V|SUMF1_uc011ast.1_Missense_Mutation_p.A116V NM_182760 NP_877437 Q8NBK3 SUMF1_HUMAN sulfatase modifying factor 1 isoform 1 116 endoplasmic reticulum lumen metal ion binding|oxidoreductase activity upper_aerodigestive_tract(1) 1 Melanoma(143;0.068)|Colorectal(144;0.233) Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549) AACTCTCCTCGCAGGTGCTTC 0.438000 ARPP21 10777 broad.mit.edu 37 3 35778739 35778739 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr3:35778739G>A uc003cgb.2 + 16 1793 c.1529G>A c.(1528-1530)CGA>CAA p.R510Q ARPP21_uc003cga.2_Missense_Mutation_p.R456Q|ARPP21_uc011axy.1_Missense_Mutation_p.R476Q|ARPP21_uc003cgf.2_Missense_Mutation_p.R311Q|ARPP21_uc003cgg.2_5'UTR NM_016300 NP_057384 Q9UBL0 ARP21_HUMAN cyclic AMP-regulated phosphoprotein, 21 kD 510 Gln-rich. cytoplasm nucleic acid binding ovary(2)|skin(1) 3 CAGCCCCTGCGAAGCGCCATG 0.612000 XIRP1 165904 broad.mit.edu 37 3 39229243 39229243 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr3:39229243C>T uc003cjk.1 - 2 1915 c.1694G>A c.(1693-1695)CGG>CAG p.R565Q XIRP1_uc003cji.2_Missense_Mutation_p.R565Q|XIRP1_uc003cjj.2_Intron NM_194293 NP_919269 Q702N8 XIRP1_HUMAN xin actin-binding repeat containing 1 565 Interaction with CTNNB1 (By similarity). actin binding ovary(4)|breast(2)|central_nervous_system(1)|pancreas(1) 8 KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065) CTGCTGCTCCCGTTGGTGGAT 0.622000 RHOA 387 broad.mit.edu 37 3 49412900 49412900 + Missense_Mutation SNP G G C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr3:49412900G>C uc003cwu.2 - 2 399 c.123C>G c.(121-123)AAC>AAG p.N41K RHOA_uc010hku.2_5'UTR NM_001664 NP_001655 P61586 RHOA_HUMAN ras homolog gene family, member A precursor 41 Effector region (Potential). axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) CTGCCACATAGTTCTCAAACA 0.438000 AMIGO3 386724 broad.mit.edu 37 3 49756171 49756171 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr3:49756171C>T uc003cxj.2 - 1 1068 c.728G>A c.(727-729)CGC>CAC p.R243H RNF123_uc003cxh.2_Intron|RNF123_uc003cxi.2_Intron NM_198722 NP_942015 Q86WK7 AMGO3_HUMAN adhesion molecule with Ig-like domain 3 243 Extracellular (Potential).|LRRCT. heterophilic cell-cell adhesion integral to membrane pancreas(1) 1 BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) CGCAAAGTCGCGCACGGCGCT 0.637000 PBRM1 55193 broad.mit.edu 37 3 52702550 52702550 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr3:52702550G>A uc003des.2 - 3 360 c.348C>T c.(346-348)TTC>TTT p.F116F PBRM1_uc003dex.2_RNA|PBRM1_uc003deq.2_Silent_p.F116F|PBRM1_uc003der.2_Silent_p.F116F|PBRM1_uc003det.2_Silent_p.F116F|PBRM1_uc003deu.2_Silent_p.F116F|PBRM1_uc003dev.2_RNA|PBRM1_uc003dew.2_Silent_p.F116F|PBRM1_uc010hmk.1_Silent_p.F116F|PBRM1_uc003dey.2_Silent_p.F116F|PBRM1_uc003dez.1_Silent_p.F116F|PBRM1_uc003dfb.1_Silent_p.F14F NM_181042 NP_060635 Q86U86 PB1_HUMAN polybromo 1 isoform 4 116 Bromo 1. chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent nuclear chromosome chromatin binding|DNA binding|protein binding kidney(136)|breast(4) 140 BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613) AAAGAAGCTGGAAGTCAGCAG 0.303000 Mis|N|F|S|D|O clear cell renal carcinoma|breast C3orf64 285203 broad.mit.edu 37 3 69028852 69028852 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr3:69028852A>C uc003dnl.2 - 16 1706 c.1301T>G c.(1300-1302)CTT>CGT p.L434R C3orf64_uc003dnj.2_Missense_Mutation_p.L113R|C3orf64_uc003dnk.2_Missense_Mutation_p.L350R|C3orf64_uc011bfw.1_RNA NM_173654 NP_775925 Q5NDL2 AER61_HUMAN AER61 glycosyltransferase 434 extracellular region transferase activity, transferring glycosyl groups ovary(1) 1 Lung NSC(201;0.126) BRCA - Breast invasive adenocarcinoma(55;4.61e-05)|Epithelial(33;0.000291)|LUSC - Lung squamous cell carcinoma(21;0.0127)|KIRC - Kidney renal clear cell carcinoma(39;0.216) TGGAAGGAAAAGTAAATGGGT 0.408000 ZPLD1 131368 broad.mit.edu 37 3 102187912 102187912 + Missense_Mutation SNP T T A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr3:102187912T>A uc003dvs.1 + 15 1748 c.866T>A c.(865-867)ATG>AAG p.M289K ZPLD1_uc003dvt.1_Missense_Mutation_p.M305K|ZPLD1_uc011bhg.1_Missense_Mutation_p.M289K NM_175056 NP_778226 Q8TCW7 ZPLD1_HUMAN zona pellucida-like domain containing 1 289 ZP.|Extracellular (Potential). integral to membrane ovary(2)|skin(2)|central_nervous_system(1) 5 AATCAGAAAATGTCCACTGTC 0.468000 BBX 56987 broad.mit.edu 37 3 107474490 107474490 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr3:107474490C>T uc010hpr.2 + 10 1198 c.871C>T c.(871-873)CGC>TGC p.R291C BBX_uc003dwk.3_Missense_Mutation_p.R291C|BBX_uc003dwl.3_Missense_Mutation_p.R291C|BBX_uc010hps.1_Missense_Mutation_p.R312C|BBX_uc003dwm.3_Missense_Mutation_p.R291C NM_001142568 NP_001136040 Q8WY36 BBX_HUMAN HMG-BOX transcription factor BBX isoform 1 291 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(3)|skin(1) 4 OV - Ovarian serous cystadenocarcinoma(3;0.112) GCCTGTAAAACGCTGTGGAAA 0.383000 BOC 91653 broad.mit.edu 37 3 113002434 113002434 + Missense_Mutation SNP G G A rs116501937 by1000genomes TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr3:113002434G>A uc003dzx.2 + 16 3229 c.2608G>A c.(2608-2610)GTC>ATC p.V870I BOC_uc003dzy.2_Missense_Mutation_p.V870I|BOC_uc003dzz.2_Missense_Mutation_p.V871I|BOC_uc003eab.2_Missense_Mutation_p.V571I|BOC_uc003eac.2_Missense_Mutation_p.V185I NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 870 Helical; (Potential). cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) TCTCATCATCGTCACCTTCAT 0.607000 TIGIT 201633 broad.mit.edu 37 3 114014537 114014537 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr3:114014537T>G uc003ebg.1 + 2 241 c.207T>G c.(205-207)TGT>TGG p.C69W NM_173799 NP_776160 Q495A1 TIGIT_HUMAN T cell immunoreceptor with Ig and ITIM domains 69 Extracellular (Potential).|Ig-like V-type. negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production cell surface|integral to membrane|plasma membrane protein binding central_nervous_system(1) 1 TGGCCATTTGTAATGCTGACT 0.577000 NPHP3 27031 broad.mit.edu 37 3 132418811 132418811 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr3:132418811C>T uc003epe.1 - 12 1915 c.1838G>A c.(1837-1839)CGT>CAT p.R613H NPHP3_uc003epd.1_5'UTR|NPHP3_uc003epf.1_Missense_Mutation_p.R368H NM_153240 NP_694972 Q7Z494 NPHP3_HUMAN nephrocystin 3 613 maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway cilium protein binding ovary(1) 1 GCCTTGATGACGAGCAGAGAG 0.418000 SLCO2A1 6578 broad.mit.edu 37 3 133653654 133653654 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr3:133653654C>T uc003eqa.3 - 14 2109 c.1835G>A c.(1834-1836)GGC>GAC p.G612D SLCO2A1_uc003eqb.3_Missense_Mutation_p.G536D NM_005630 NP_005621 Q92959 SO2A1_HUMAN solute carrier organic anion transporter family, 612 Helical; Name=12; (Potential). sodium-independent organic anion transport integral to plasma membrane|membrane fraction prostaglandin transmembrane transporter activity|protein binding central_nervous_system(1) 1 CGCCTTGTAGCCCATCTGCAG 0.622000 MED12L 116931 broad.mit.edu 37 3 150877793 150877793 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr3:150877793G>A uc003eyp.2 + 7 1050 c.1012G>A c.(1012-1014)GGC>AGC p.G338S MED12L_uc011bnz.1_Intron|MED12L_uc003eyn.2_Missense_Mutation_p.G338S|MED12L_uc003eyo.2_Missense_Mutation_p.G338S NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 338 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) TGGCCCCCCCGGCCCTGGCAT 0.587000 MED12L 116931 broad.mit.edu 37 3 151095885 151095885 + Missense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr3:151095885G>T uc003eyp.2 + 29 4335 c.4297G>T c.(4297-4299)GCT>TCT p.A1433S MED12L_uc011bnz.1_Missense_Mutation_p.A1293S|P2RY12_uc011boa.1_Intron|P2RY12_uc003eyx.1_Intron|MED12L_uc003eyy.1_Missense_Mutation_p.A596S NM_053002 NP_443728 Q86YW9 MD12L_HUMAN mediator of RNA polymerase II transcription, 1433 regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent mediator complex ovary(4)|large_intestine(1)|central_nervous_system(1)|skin(1) 7 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) GCTGAAAGCCGCTGGGGAAGA 0.532000 SCHIP1 29970 broad.mit.edu 37 3 159614519 159614519 + Nonsense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr3:159614519G>T uc003fcs.1 + 8 1486 c.1420G>T c.(1420-1422)GAA>TAA p.E474* SCHIP1_uc003fcq.1_Nonsense_Mutation_p.E550*|SCHIP1_uc003fcr.1_Nonsense_Mutation_p.E463*|SCHIP1_uc003fct.1_Nonsense_Mutation_p.E461*|SCHIP1_uc003fcu.1_Nonsense_Mutation_p.E231*|SCHIP1_uc003fcv.1_Nonsense_Mutation_p.E247* NM_014575 NP_055390 Q9P0W5 SCHI1_HUMAN schwannomin interacting protein 1 474 cytoplasm identical protein binding|protein binding ovary(1)|central_nervous_system(1) 2 LUSC - Lung squamous cell carcinoma(72;0.00523)|Lung(72;0.00534) CAGACATGCTGAAAGTCAGCA 0.373000 ZBBX 79740 broad.mit.edu 37 3 167083738 167083738 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr3:167083738C>T uc003fep.2 - 6 532 c.209G>A c.(208-210)GGA>GAA p.G70E ZBBX_uc011bpc.1_Missense_Mutation_p.G70E|ZBBX_uc003feq.2_Missense_Mutation_p.G41E NM_024687 NP_078963 A8MT70 ZBBX_HUMAN zinc finger, B-box domain containing 70 intracellular zinc ion binding ovary(2) 2 GCCCACTTTTCCAGATTTCCA 0.289000 LRRC31 79782 broad.mit.edu 37 3 169557820 169557820 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr3:169557820C>T uc003fgc.1 - 9 1686 c.1609G>A c.(1609-1611)GAC>AAC p.D537N LRRC31_uc010hwp.1_Missense_Mutation_p.D481N NM_024727 NP_079003 Q6UY01 LRC31_HUMAN leucine rich repeat containing 31 537 ovary(2)|skin(1) 3 all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943) TTATCTTGGTCAAAGCATTCT 0.403000 IL1RAP 3556 broad.mit.edu 37 3 190338192 190338192 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr3:190338192G>A uc003fsm.1 + 6 872 c.666G>A c.(664-666)ACG>ACA p.T222T IL1RAP_uc003fsk.2_Silent_p.T222T|IL1RAP_uc003fsl.2_Silent_p.T222T|IL1RAP_uc010hzf.2_Silent_p.T81T|IL1RAP_uc010hzg.1_Silent_p.T222T|IL1RAP_uc003fsn.1_RNA|IL1RAP_uc003fso.1_Silent_p.T222T|IL1RAP_uc003fsp.1_RNA|IL1RAP_uc003fsq.2_Silent_p.T222T NM_002182 NP_002173 Q9NPH3 IL1AP_HUMAN interleukin 1 receptor accessory protein isoform 222 Extracellular (Potential).|Ig-like C2-type 2. 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) ATGGACGTACGTTTCATCTCA 0.363000 ZBTB49 166793 broad.mit.edu 37 4 4304670 4304670 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr4:4304670C>T uc003ghu.2 + 3 1282 c.1107C>T c.(1105-1107)TGC>TGT p.C369C ZBTB49_uc003ghv.2_5'UTR|ZBTB49_uc010icy.2_RNA|ZBTB49_uc010icz.2_Silent_p.C69C NM_145291 NP_660334 Q6ZSB9 ZBT49_HUMAN zinc finger protein 509 369 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 ATTTTAATTGCATTAGTGAGA 0.468000 SULT1E1 6783 broad.mit.edu 37 4 70723267 70723267 + Silent SNP C C T rs138937330 TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr4:70723267C>T uc003heo.2 - 2 209 c.96G>A c.(94-96)GCG>GCA p.A32A SULT1E1_uc010ihv.1_Silent_p.A32A NM_005420 NP_005411 P49888 ST1E1_HUMAN estrogen sulfotransferase 32 3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process cytosol|nuclear membrane estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity ovary(1) 1 TTGCCTGGAACGCTTCCACAT 0.348000 PCDH18 54510 broad.mit.edu 37 4 138452262 138452262 + Silent SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr4:138452262T>C uc003ihe.3 - 1 1368 c.981A>G c.(979-981)CAA>CAG p.Q327Q PCDH18_uc003ihf.3_Silent_p.Q320Q|PCDH18_uc011cgz.1_Intron|PCDH18_uc003ihg.3_Silent_p.Q107Q|PCDH18_uc011cha.1_Intron NM_019035 NP_061908 Q9HCL0 PCD18_HUMAN protocadherin 18 precursor 327 Cadherin 3.|Extracellular (Potential). brain development|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding pancreas(3)|skin(2) 5 all_hematologic(180;0.24) GACCCAAATCTTGAGCCTGAA 0.353000 WDR17 116966 broad.mit.edu 37 4 177082116 177082116 + Missense_Mutation SNP T T A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr4:177082116T>A uc003iuj.2 + 21 2941 c.2785T>A c.(2785-2787)TCA>ACA p.S929T WDR17_uc003iuk.2_Missense_Mutation_p.S905T|WDR17_uc003ium.3_Missense_Mutation_p.S905T|WDR17_uc003iul.1_Intron|WDR17_uc003iun.2_Missense_Mutation_p.S148T NM_170710 NP_733828 Q8IZU2 WDR17_HUMAN WD repeat domain 17 isoform 1 929 ovary(2)|skin(2)|pancreas(1)|central_nervous_system(1) 6 Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164) all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232) TAAAGGAGCTTCATATTCTGA 0.343000 SEMA5A 9037 broad.mit.edu 37 5 9044528 9044528 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr5:9044528T>G uc003jek.2 - 22 3774 c.3062A>C c.(3061-3063)CAC>CCC p.H1021P NM_003966 NP_003957 Q13591 SEM5A_HUMAN semaphorin 5A precursor 1021 Cytoplasmic (Potential). cell adhesion|cell-cell signaling integral to membrane|plasma membrane ovary(1)|central_nervous_system(1) 2 TTTGTTGATGTGGTTGGTTAT 0.488000 CDH10 1008 broad.mit.edu 37 5 24487971 24487971 + Missense_Mutation SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr5:24487971A>G uc003jgr.1 - 12 2500 c.2168T>C c.(2167-2169)CTT>CCT p.L723P CDH10_uc011cnu.1_RNA NM_006727 NP_006718 Q9Y6N8 CAD10_HUMAN cadherin 10, type 2 preproprotein 723 Cytoplasmic (Potential). adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(6)|pancreas(4)|breast(2) 12 STAD - Stomach adenocarcinoma(35;0.0556) GGTGGGGTCAAGATCATGCTC 0.443000 HNSCC(23;0.051) ADAMTS12 81792 broad.mit.edu 37 5 33614400 33614400 + Missense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr5:33614400G>T uc003jia.1 - 16 2633 c.2470C>A c.(2470-2472)CAG>AAG p.Q824K ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q739K NM_030955 NP_112217 P58397 ATS12_HUMAN ADAM metallopeptidase with thrombospondin type 1 824 TSP type-1 2.|Spacer 1. Missing (in Ref. 1; CAC20419). proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(4)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|kidney(1) 9 AAGTACATCTGCTGCTCAACA 0.512000 HNSCC(64;0.19) RXFP3 51289 broad.mit.edu 37 5 33936965 33936965 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr5:33936965C>T uc003jic.1 + 1 477 c.120C>T c.(118-120)AAC>AAT p.N40N NM_016568 NP_057652 Q9NSD7 RL3R1_HUMAN relaxin/insulin-like family peptide receptor 3 40 Extracellular (Potential). integral to plasma membrane N-formyl peptide receptor activity upper_aerodigestive_tract(1) 1 CGAGTGGTAACGCGTCGCTGC 0.667000 ITGA1 3672 broad.mit.edu 37 5 52229783 52229783 + Missense_Mutation SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr5:52229783A>G uc003jou.2 + 23 2973 c.2921A>G c.(2920-2922)AAT>AGT p.N974S ITGA1_uc003jov.2_RNA|ITGA1_uc003jow.2_Missense_Mutation_p.N505S NM_181501 NP_852478 P56199 ITA1_HUMAN integrin, alpha 1 precursor 974 Extracellular (Potential). axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction integrin complex collagen binding|receptor activity ovary(2)|lung(1) 3 Lung NSC(810;5.05e-05)|Breast(144;0.0851) GAAGTTATTAATTCTACTGAG 0.269000 VCAN 1462 broad.mit.edu 37 5 82837805 82837805 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr5:82837805A>C uc003kii.3 + 8 9339 c.8983A>C c.(8983-8985)AGT>CGT p.S2995R VCAN_uc003kij.3_Missense_Mutation_p.S2008R|VCAN_uc010jau.2_Intron|VCAN_uc003kik.3_Intron|VCAN_uc003kil.3_Missense_Mutation_p.S1659R NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 2995 GAG-beta. cell adhesion|cell recognition|glial cell migration extracellular space|proteinaceous extracellular matrix calcium ion binding|hyaluronic acid binding|sugar binding ovary(7)|skin(6)|lung(2)|central_nervous_system(1) 16 Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142) OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29) GCCTTGGCTAAGTCCACAGAC 0.502000 FAM81B 153643 broad.mit.edu 37 5 94749783 94749783 + Missense_Mutation SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr5:94749783C>G uc003kla.1 + 4 472 c.426C>G c.(424-426)TGC>TGG p.C142W FAM81B_uc010jbe.1_5'UTR NM_152548 NP_689761 Q96LP2 FA81B_HUMAN hypothetical protein LOC153643 142 ovary(1)|skin(1) 2 all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473) all cancers(79;1.04e-16) TCTCTGCTTGCCTGCAGGGGA 0.527000 ADAMTS19 171019 broad.mit.edu 37 5 129039996 129039996 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr5:129039996A>C uc003kvb.1 + 21 3206 c.3206A>C c.(3205-3207)AAG>ACG p.K1069T ADAMTS19_uc010jdh.1_RNA NM_133638 NP_598377 Q8TE59 ATS19_HUMAN ADAM metallopeptidase with thrombospondin type 1 1069 TSP type-1 4. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding ovary(5)|breast(2)|lung(1)|skin(1) 9 all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.222) CCAAGAAAGAAGTGTGTCCTC 0.458000 RAPGEF6 51735 broad.mit.edu 37 5 130825266 130825266 + Missense_Mutation SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr5:130825266C>G uc003kvn.1 - 15 2019 c.1813G>C c.(1813-1815)GCA>CCA p.A605P RAPGEF6_uc003kvp.1_Missense_Mutation_p.A655P|RAPGEF6_uc003kvo.1_Missense_Mutation_p.A605P|RAPGEF6_uc010jdi.1_Missense_Mutation_p.A605P|RAPGEF6_uc010jdj.1_Missense_Mutation_p.A605P|RAPGEF6_uc003kvq.2_Missense_Mutation_p.A322P|RAPGEF6_uc003kvr.2_Missense_Mutation_p.A605P|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Missense_Mutation_p.A605P NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 605 PDZ. Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction cytoplasm|plasma membrane GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding ovary(1)|lung(1)|central_nervous_system(1) 3 KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) Lung(113;0.0721) ACAGTAAGTGCAAGATGAGTA 0.289000 SPOCK1 6695 broad.mit.edu 37 5 136324155 136324155 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr5:136324155T>G uc003lbo.2 - 7 1075 c.884A>C c.(883-885)AAG>ACG p.K295T SPOCK1_uc003lbp.2_Missense_Mutation_p.K295T NM_004598 NP_004589 Q08629 TICN1_HUMAN sparc/osteonectin, cwcv and kazal-like domains 295 cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction proteinaceous extracellular matrix calcium ion binding ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) GTTAGAAAGCTTGCCATCCTT 0.532000 HNRNPA0 10949 broad.mit.edu 37 5 137088877 137088877 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr5:137088877G>A uc003lbt.2 - 1 1163 c.879C>T c.(877-879)GGC>GGT p.G293G MYOT_uc011cye.1_Intron|HNRNPA0_uc010jeo.2_RNA NM_006805 NP_006796 Q13151 ROA0_HUMAN heterogeneous nuclear ribonucleoprotein A0 293 Gly-rich. nuclear mRNA splicing, via spliceosome heterogeneous nuclear ribonucleoprotein complex|nucleoplasm nucleotide binding|RNA binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233) CACCGCCATAGCCGCCTCTGT 0.468000 CDC25C 995 broad.mit.edu 37 5 137661584 137661584 + Missense_Mutation SNP G G C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr5:137661584G>C uc003lcp.1 - 6 650 c.379C>G c.(379-381)CTT>GTT p.L127V CDC25C_uc003lcq.1_Intron|CDC25C_uc003lcr.1_Missense_Mutation_p.L127V|CDC25C_uc011cyp.1_Missense_Mutation_p.L144V|CDC25C_uc003lcs.1_Missense_Mutation_p.L205V|CDC25C_uc010jet.1_Intron|CDC25C_uc003lct.1_Intron|CDC25C_uc003lcu.1_Missense_Mutation_p.L84V NM_001790 NP_001781 P30307 MPIP3_HUMAN cell division cycle 25C isoform a 127 cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle cytosol|nucleoplasm protein tyrosine phosphatase activity|WW domain binding lung(3) 3 KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592) GTGCTACAAAGAAGCTGTGCC 0.443000 PCDHA8 56140 broad.mit.edu 37 5 140222910 140222910 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr5:140222910G>A uc003lhs.2 + 1 2004 c.2004G>A c.(2002-2004)TCG>TCA p.S668S PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhr.1_Silent_p.S668S NM_018911 NP_061734 Q9Y5H6 PCDA8_HUMAN protocadherin alpha 8 isoform 1 precursor 668 Cadherin 6.|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) TTCTGGTGTCGCTGGTGGAGA 0.637000 PCDHB16 57717 broad.mit.edu 37 5 140562740 140562740 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr5:140562740G>A uc003liv.2 + 1 1761 c.606G>A c.(604-606)CGG>CGA p.R202R PCDHB16_uc010jfw.1_Intron NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 202 Extracellular (Potential).|Cadherin 2. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) AGCTGGATCGGGAGGAGGAGC 0.498000 ADAM19 8728 broad.mit.edu 37 5 156929870 156929870 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr5:156929870G>A uc003lwz.2 - 12 1313 c.1249C>T c.(1249-1251)CGG>TGG p.R417W ADAM19_uc003lww.1_Missense_Mutation_p.R150W|ADAM19_uc003lwy.2_Missense_Mutation_p.R16W|ADAM19_uc011ddr.1_Missense_Mutation_p.R348W NM_033274 NP_150377 Q9H013 ADA19_HUMAN ADAM metallopeptidase domain 19 preproprotein 417 Disintegrin.|Extracellular (Potential). proteolysis integral to membrane metalloendopeptidase activity|SH3 domain binding|zinc ion binding ovary(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 8 Renal(175;0.00488) Medulloblastoma(196;0.0359)|all_neural(177;0.14) Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785) CCACACCTCCGGCCTCCATAC 0.537000 SOX4 6659 broad.mit.edu 37 6 21595667 21595667 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr6:21595667G>A uc003ndi.2 + 1 1696 c.902G>A c.(901-903)GGC>GAC p.G301D NM_003107 NP_003098 Q06945 SOX4_HUMAN SRY (sex determining region Y)-box 4 301 canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation mitochondrion|nucleus core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity 0 Ovarian(93;0.163) all cancers(50;0.0751)|Epithelial(50;0.155) CTGTTCGGCGGCCTGGGCACG 0.766000 ZNF165 7718 broad.mit.edu 37 6 28057156 28057156 + Missense_Mutation SNP T T A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr6:28057156T>A uc003nkg.2 + 5 2450 c.1366T>A c.(1366-1368)TAT>AAT p.Y456N ZNF165_uc003nkh.2_Missense_Mutation_p.Y456N|ZNF165_uc003nki.3_Missense_Mutation_p.Y456N|ZSCAN12P1_uc003nkj.3_5'Flank NM_003447 NP_003438 P49910 ZN165_HUMAN zinc finger protein 165 456 C2H2-type 6. viral reproduction nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding 0 AGAAAAACCCTATGAATGCAG 0.428000 MDC1 9656 broad.mit.edu 37 6 30680604 30680604 + Missense_Mutation SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr6:30680604C>G uc003nrg.3 - 5 1555 c.1115G>C c.(1114-1116)AGC>ACC p.S372T MDC1_uc003nrf.3_Missense_Mutation_p.S26T|MDC1_uc011dmp.1_Missense_Mutation_p.S244T|MDC1_uc003nrh.1_Missense_Mutation_p.S244T|MDC1_uc003nri.2_Missense_Mutation_p.S372T NM_014641 NP_055456 Q14676 MDC1_HUMAN mediator of DNA-damage checkpoint 1 372 Required for nuclear localization (NLS1). cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint focal adhesion|nucleoplasm FHA domain binding|protein C-terminus binding breast(2)|ovary(1)|kidney(1) 4 ACCAGCCTGGCTCTCCTGCAG 0.537000 Other_conserved_DNA_damage_response_genes DOM3Z 1797 broad.mit.edu 37 6 31938737 31938737 + Missense_Mutation SNP G G A rs147759642 TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr6:31938737G>A uc003nyo.1 - 2 1078 c.544C>T c.(544-546)CGG>TGG p.R182W DOM3Z_uc003nyp.1_Missense_Mutation_p.R182W|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc003nyr.1_Missense_Mutation_p.R182W|DOM3Z_uc003nys.1_Missense_Mutation_p.R182W|DOM3Z_uc010jtl.1_3'UTR|STK19_uc003nyt.2_5'Flank|STK19_uc011dow.1_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.2_5'Flank|STK19_uc003nyw.2_5'Flank|STK19_uc010jtn.1_5'Flank NM_005510 NP_005501 O77932 DOM3Z_HUMAN DOM-3 homolog Z 182 identical protein binding|metal ion binding|nucleotide binding 0 ATAAGCTCCCGGAGGAGCGGT 0.592000 PTK7 5754 broad.mit.edu 37 6 43096749 43096749 + Silent SNP G G A rs151242533 TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr6:43096749G>A uc003oub.1 + 2 312 c.114G>A c.(112-114)CCG>CCA p.P38P PTK7_uc003ouc.1_Silent_p.P38P|PTK7_uc003oud.1_Silent_p.P38P|PTK7_uc003oue.1_Silent_p.P38P|PTK7_uc003ouf.1_RNA|PTK7_uc003oug.1_RNA|PTK7_uc011dve.1_Silent_p.P46P|PTK7_uc003oua.2_Silent_p.P38P NM_002821 NP_002812 Q13308 PTK7_HUMAN PTK7 protein tyrosine kinase 7 isoform a 38 Ig-like C2-type 1.|Extracellular (Potential). actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration cell-cell junction|integral to plasma membrane ATP binding|transmembrane receptor protein tyrosine kinase activity ovary(2)|large_intestine(1) 3 Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423) TCAAGCAGCCGTCCTCCCAGG 0.637000 KHDRBS2 202559 broad.mit.edu 37 6 62390958 62390958 + Missense_Mutation SNP T T A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr6:62390958T>A uc003peg.2 - 9 1207 c.960A>T c.(958-960)GAA>GAT p.E320D NM_152688 NP_689901 Q5VWX1 KHDR2_HUMAN KH domain-containing, RNA-binding, signal 320 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus SH3 domain binding skin(7)|ovary(3)|liver(1) 11 BRCA - Breast invasive adenocarcinoma(397;0.149) TGGCCCATTCTTCTGGTGCTG 0.448000 MCHR2 84539 broad.mit.edu 37 6 100382309 100382309 + Silent SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr6:100382309A>C uc003pqh.1 - 5 987 c.672T>G c.(670-672)ACT>ACG p.T224T MCHR2_uc003pqi.1_Silent_p.T224T NM_001040179 NP_001035269 Q969V1 MCHR2_HUMAN melanin-concentrating hormone receptor 2 224 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity lung(3)|ovary(2)|breast(1)|central_nervous_system(1)|skin(1) 8 all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069) BRCA - Breast invasive adenocarcinoma(108;0.0429) ACATCTCCCAAGTATAGCATA 0.299000 QRSL1 55278 broad.mit.edu 37 6 107088263 107088263 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr6:107088263G>A uc003prm.2 + 2 180 c.64G>A c.(64-66)GAG>AAG p.E22K QRSL1_uc003prl.2_Missense_Mutation_p.E22K NM_018292 NP_060762 Q9H0R6 QRSL1_HUMAN glutaminyl-tRNA synthase 22 translation ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor 0 Breast(9;0.0107)|all_epithelial(6;0.14) all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248) Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152) BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176) TACACCAACAGAGCTCTGTCA 0.373000 LAMA4 3910 broad.mit.edu 37 6 112512889 112512889 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr6:112512889G>A uc003pvu.2 - 6 976 c.667C>T c.(667-669)CGT>TGT p.R223C LAMA4_uc003pvv.2_Missense_Mutation_p.R223C|LAMA4_uc003pvt.2_Missense_Mutation_p.R223C NM_001105206 NP_001098676 Q16363 LAMA4_HUMAN laminin, alpha 4 isoform 1 precursor 223 Laminin EGF-like 3. cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex extracellular matrix structural constituent|receptor binding ovary(4)|breast(2)|large_intestine(1)|central_nervous_system(1)|pancreas(1) 9 all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209) all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242) GGAGCGCAACGTTCACACTTG 0.502000 TAAR5 9038 broad.mit.edu 37 6 132909837 132909837 + Missense_Mutation SNP C C T rs145127866 byFrequency TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr6:132909837C>T uc003qdk.2 - 1 1041 c.989G>A c.(988-990)CGC>CAC p.R330H NM_003967 NP_003958 O14804 TAAR5_HUMAN trace amine associated receptor 5 330 Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity skin(1) 1 Breast(56;0.112) OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015) ATCAACAGTGCGTGTCTGCGG 0.493000 TBPL1 9519 broad.mit.edu 37 6 134305750 134305750 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr6:134305750G>A uc010kgg.2 + 6 982 c.422G>A c.(421-423)CGG>CAG p.R141Q TBPL1_uc003qel.2_Missense_Mutation_p.R141Q NM_004865 NP_004856 P62380 TBPL1_HUMAN TBP-like 1 141 regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter cytoplasm DNA binding|protein binding|transcription coactivator activity 0 Colorectal(23;0.221)|Breast(56;0.247) GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848) GTGTGCTATCGGATAAAATCT 0.313000 HIVEP2 3097 broad.mit.edu 37 6 143093770 143093770 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr6:143093770G>A uc003qjd.2 - 5 2849 c.2106C>T c.(2104-2106)AGC>AGT p.S702S NM_006734 NP_006725 P31629 ZEP2_HUMAN human immunodeficiency virus type I enhancer 702 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(2)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102) CATCCCCTACGCTCTTCTCTT 0.512000 STX11 8676 broad.mit.edu 37 6 144507996 144507996 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr6:144507996C>T uc003qks.3 + 2 424 c.232C>T c.(232-234)CGC>TGC p.R78C NM_003764 NP_003755 O75558 STX11_HUMAN syntaxin 11 78 cellular membrane fusion|intracellular protein transport|vesicle-mediated transport Golgi apparatus|membrane SNAP receptor activity ovary(1)|central_nervous_system(1) 2 OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492) GTCCATGCGGCGCCTCAGCAG 0.627000 Familial_Hemophagocytic_Lymphohistiocytosis UTRN 7402 broad.mit.edu 37 6 144801088 144801088 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr6:144801088A>C uc003qkt.2 + 25 3569 c.3477A>C c.(3475-3477)GAA>GAC p.E1159D UTRN_uc010khq.1_Missense_Mutation_p.E1159D NM_007124 NP_009055 P46939 UTRO_HUMAN utrophin 1159 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) AGTCACCAGAAGAGCTTGAGA 0.517000 PACRG 135138 broad.mit.edu 37 6 163735984 163735984 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr6:163735984G>A uc003qua.2 + 7 1080 c.856G>A c.(856-858)GTG>ATG p.V286M PACRG_uc003qub.2_Missense_Mutation_p.V247M|PACRG_uc003quc.2_Missense_Mutation_p.V247M|LOC285796_uc011egh.1_Intron NM_152410 NP_689623 Q96M98 PACRG_HUMAN parkin co-regulated gene protein isoform 1 286 0 Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203) OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242) CATTAAGTACGTGGTCCCAAC 0.507000 DLL1 28514 broad.mit.edu 37 6 170592364 170592364 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr6:170592364T>G uc003qxm.2 - 9 2473 c.2003A>C c.(2002-2004)CAG>CCG p.Q668P NM_005618 NP_005609 O00548 DLL1_HUMAN delta-like 1 precursor 668 Cytoplasmic (Potential). cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding lung(4)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) TGAGGAGCCCTGGGGCTGGCA 0.677000 DLL1 28514 broad.mit.edu 37 6 170594140 170594140 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr6:170594140G>A uc003qxm.2 - 8 1586 c.1116C>T c.(1114-1116)GAC>GAT p.D372D NM_005618 NP_005609 O00548 DLL1_HUMAN delta-like 1 precursor 372 Extracellular (Potential).|EGF-like 5. cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion extracellular region|integral to plasma membrane calcium ion binding|Notch binding lung(4)|ovary(1) 5 Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246) OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584) AGCAAGGGCCGTCCGCACAGG 0.582000 SDK1 221935 broad.mit.edu 37 7 4218127 4218127 + Missense_Mutation SNP G G T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr7:4218127G>T uc003smx.2 + 35 5146 c.5007G>T c.(5005-5007)AAG>AAT p.K1669N SDK1_uc010kso.2_Missense_Mutation_p.K925N|SDK1_uc003smy.2_Missense_Mutation_p.K156N NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1669 Fibronectin type-III 10. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) ATTTAAAGAAGTACCGGCGCT 0.522000 SDK1 221935 broad.mit.edu 37 7 4247869 4247869 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr7:4247869G>A uc003smx.2 + 37 5492 c.5353G>A c.(5353-5355)GGA>AGA p.G1785R SDK1_uc010kso.2_Missense_Mutation_p.G1041R|SDK1_uc003smy.2_Missense_Mutation_p.G272R NM_152744 NP_689957 Q7Z5N4 SDK1_HUMAN sidekick 1 precursor 1785 Fibronectin type-III 11. cell adhesion integral to membrane large_intestine(3)|ovary(2)|skin(1) 6 all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194) UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15) CAACGCCGCCGGAGATGGACC 0.602000 TXNDC3 51314 broad.mit.edu 37 7 37907454 37907454 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr7:37907454G>A uc003tfn.2 + 11 1144 c.772G>A c.(772-774)GTC>ATC p.V258I NM_016616 NP_057700 Q8N427 TXND3_HUMAN thioredoxin domain containing 3 258 cell differentiation|cell redox homeostasis|CTP biosynthetic process|GTP biosynthetic process|multicellular organismal development|spermatogenesis|UTP biosynthetic process cytoplasm|microtubule cytoskeleton ATP binding|nucleoside diphosphate kinase activity ovary(1)|breast(1)|central_nervous_system(1) 3 TCAACCTGAGGTCGAAGCCCA 0.438000 Kartagener_syndrome URGCP 55665 broad.mit.edu 37 7 43917267 43917267 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr7:43917267T>C uc003tiw.2 - 6 1852 c.1795A>G c.(1795-1797)ACC>GCC p.T599A URGCP_uc003tiu.2_Missense_Mutation_p.T556A|URGCP_uc003tiv.2_Missense_Mutation_p.T524A|URGCP_uc003tix.2_Missense_Mutation_p.T590A|URGCP_uc003tiy.2_Missense_Mutation_p.T556A|URGCP_uc003tiz.2_Missense_Mutation_p.T556A|URGCP_uc011kbj.1_Missense_Mutation_p.T556A NM_001077663 NP_001071131 Q8TCY9 URGCP_HUMAN up-regulated gene 4 isoform 3 599 cell cycle centrosome|nucleus GTP binding ovary(2)|liver(1)|skin(1) 4 ACGTCTGTGGTGCCCCCATGC 0.632000 VSTM2A 222008 broad.mit.edu 37 7 54612434 54612434 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr7:54612434C>T uc010kzf.2 + 2 604 c.199C>T c.(199-201)CGG>TGG p.R67W VSTM2A_uc010kze.2_Missense_Mutation_p.R67W|VSTM2A_uc003tqc.3_Missense_Mutation_p.R67W NM_182546 NP_872352 Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2 67 Ig-like V-type. extracellular region 0 STAD - Stomach adenocarcinoma(5;0.0525) GTGGTTCCTGCGGGGGCCGGA 0.721000 TYW1 55253 broad.mit.edu 37 7 66479483 66479483 + Missense_Mutation SNP C C A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr7:66479483C>A uc003tvn.2 + 5 654 c.505C>A c.(505-507)CTG>ATG p.L169M TYW1_uc010lai.2_RNA NM_018264 NP_060734 Q9NV66 TYW1_HUMAN radical S-adenosyl methionine and flavodoxin 169 Flavodoxin-like. tRNA processing 4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity skin(1) 1 Lung NSC(55;0.0846)|all_lung(88;0.183) CAAAACTTACCTGAAGGGTAT 0.428000 PCLO 27445 broad.mit.edu 37 7 82545713 82545713 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr7:82545713T>G uc003uhx.2 - 7 11878 c.11589A>C c.(11587-11589)GAA>GAC p.E3863D PCLO_uc003uhv.2_Missense_Mutation_p.E3863D|PCLO_uc010lec.2_Missense_Mutation_p.E828D NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3794 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 ACTGGCTGAATTCAGTTTGGG 0.458000 SEMA3A 10371 broad.mit.edu 37 7 83590815 83590815 + Nonsense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr7:83590815G>A uc003uhz.2 - 17 2503 c.2188C>T c.(2188-2190)CGA>TGA p.R730* NM_006080 NP_006071 Q14563 SEM3A_HUMAN semaphorin 3A precursor 730 Arg/Lys-rich (basic). axon guidance extracellular region|membrane receptor activity ovary(2)|breast(1)|kidney(1) 4 CGTTGTTTTCGGTCCCTTTTC 0.468000 COL1A2 1278 broad.mit.edu 37 7 94038121 94038121 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr7:94038121G>A uc003ung.1 + 16 1249 c.778G>A c.(778-780)GCC>ACC p.A260T COL1A2_uc011kib.1_Intron NM_000089 NP_000080 P08123 CO1A2_HUMAN alpha 2 type I collagen precursor 260 axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway collagen type I|extracellular space|plasma membrane extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging COL1A2/PLAG1(3) soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1) 9 all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08) STAD - Stomach adenocarcinoma(171;0.0031) Collagenase(DB00048) CTTCCCAGGTGCCCCTGGCCC 0.433000 HNSCC(75;0.22) RELN 5649 broad.mit.edu 37 7 103143594 103143594 + Nonsense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr7:103143594C>T uc003vca.2 - 52 8518 c.8358G>A c.(8356-8358)TGG>TGA p.W2786* RELN_uc010liz.2_Nonsense_Mutation_p.W2786* NM_005045 NP_005036 P78509 RELN_HUMAN reelin isoform a 2786 BNR 13. 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) CCAGATAATTCCAACTCACAC 0.413000 PTPRZ1 5803 broad.mit.edu 37 7 121650904 121650904 + Missense_Mutation SNP A A G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr7:121650904A>G uc003vjy.2 + 12 2199 c.1804A>G c.(1804-1806)AAC>GAC p.N602D PTPRZ1_uc003vjz.2_Missense_Mutation_p.N602D|PTPRZ1_uc011knt.1_Missense_Mutation_p.N52D NM_002851 NP_002842 P23471 PTPRZ_HUMAN protein tyrosine phosphatase, receptor-type, 602 Extracellular (Potential). central nervous system development integral to plasma membrane protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1) 9 CATCTCTGAGAACATATCCCA 0.423000 GRM8 2918 broad.mit.edu 37 7 126086287 126086287 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr7:126086287T>G uc003vlr.2 - 9 2881 c.2570A>C c.(2569-2571)AAG>ACG p.K857T GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.K857T|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 857 Cytoplasmic (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) CACCACAGCCTTGAAGCTCCT 0.418000 HNSCC(24;0.065) GRM8 2918 broad.mit.edu 37 7 126086390 126086390 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr7:126086390T>G uc003vlr.2 - 9 2778 c.2467A>C c.(2467-2469)AGT>CGT p.S823R GRM8_uc003vls.2_RNA|GRM8_uc011kof.1_RNA|GRM8_uc003vlt.2_Missense_Mutation_p.S823R|GRM8_uc010lkz.1_RNA NM_000845 NP_000836 O00222 GRM8_HUMAN glutamate receptor, metabotropic 8 isoform a 823 Helical; Name=7; (Potential). negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception integral to plasma membrane lung(15)|ovary(5)|pancreas(1)|breast(1)|skin(1) 23 Prostate(267;0.186) L-Glutamic Acid(DB00142) GCACTTAAACTCATGGAGACA 0.368000 HNSCC(24;0.065) GCC1 79571 broad.mit.edu 37 7 127223170 127223170 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr7:127223170G>A uc003vma.2 - 2 1644 c.1226C>T c.(1225-1227)GCT>GTT p.A409V NM_024523 NP_078799 Q96CN9 GCC1_HUMAN Golgi coiled-coil protein 1 409 Potential. Golgi membrane|plasma membrane protein binding ovary(2) 2 GGCTGCTAGAGCCAGTGTCTT 0.542000 DGKI 9162 broad.mit.edu 37 7 137096916 137096916 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr7:137096916C>T uc003vtt.2 - 30 2824 c.2823G>A c.(2821-2823)AAG>AAA p.K941K DGKI_uc003vtu.2_Silent_p.K610K NM_004717 NP_004708 O75912 DGKI_HUMAN diacylglycerol kinase, iota 941 activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation nucleus|plasma membrane ATP binding|diacylglycerol kinase activity|metal ion binding ovary(1)|kidney(1)|skin(1) 3 GATATCTTACCTTCATAAGAT 0.343000 OR9A4 130075 broad.mit.edu 37 7 141619330 141619330 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr7:141619330G>A uc003vwu.1 + 1 655 c.655G>A c.(655-657)GCC>ACC p.A219T NM_001001656 NP_001001656 Q8NGU2 OR9A4_HUMAN olfactory receptor, family 9, subfamily A, 219 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 Melanoma(164;0.0171) TGTCTCCAACGCCTACATCAT 0.448000 LRRC61 65999 broad.mit.edu 37 7 150034324 150034324 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr7:150034324A>C uc003wgv.2 + 3 1048 c.374A>C c.(373-375)GAG>GCG p.E125A LRRC61_uc003wgx.2_Missense_Mutation_p.E125A|LRRC61_uc003wgw.2_Missense_Mutation_p.E125A|LRRC61_uc003wgz.3_Missense_Mutation_p.E125A NM_023942 NP_076431 Q9BV99 LRC61_HUMAN leucine rich repeat containing 61 125 0 OV - Ovarian serous cystadenocarcinoma(82;0.011) CCGTGCCTGGAGTACCTGCGG 0.657000 MLL3 58508 broad.mit.edu 37 7 151927304 151927304 + Splice_Site SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr7:151927304C>T uc003wla.2 - 17 3090 c.2871_splice c.e17+1 p.Q957_splice MLL3_uc003wkz.2_Splice_Site_p.Q18_splice NM_170606 NP_733751 Q8NEZ4 MLL3_HUMAN myeloid/lymphoid or mixed-lineage leukemia 3 intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent DNA binding|protein binding|zinc ion binding large_intestine(27)|pancreas(13)|ovary(9)|central_nervous_system(8)|breast(3)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 63 all_neural(206;0.187) all_hematologic(28;0.0592)|Prostate(32;0.0906) OV - Ovarian serous cystadenocarcinoma(82;0.00715) UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462) CAAGTTCAAACCTGATTCAAA 0.343000 N medulloblastoma NOM1 64434 broad.mit.edu 37 7 156762348 156762348 + Missense_Mutation SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr7:156762348C>G uc003wmy.2 + 11 2549 c.2534C>G c.(2533-2535)GCT>GGT p.A845G NM_138400 NP_612409 Q5C9Z4 NOM1_HUMAN nucleolar protein with MIF4G domain 1 845 RNA metabolic process nucleolus protein binding 0 Ovarian(565;0.218) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00301) UCEC - Uterine corpus endometrioid carcinoma (81;0.169) AGAGAGAAAGCTGACCTTGCA 0.512000 KCTD9 54793 broad.mit.edu 37 8 25301820 25301820 + Missense_Mutation SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr8:25301820C>G uc003xeo.2 - 3 360 c.202G>C c.(202-204)GAG>CAG p.E68Q PPP2R2A_uc003xek.2_Intron NM_017634 NP_060104 Q7L273 KCTD9_HUMAN potassium channel tetramerisation domain 68 KHA. voltage-gated potassium channel complex voltage-gated potassium channel activity 0 all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438) ATAAATGGCTCTCCTTCACAA 0.284000 CYP7B1 9420 broad.mit.edu 37 8 65536986 65536986 + Missense_Mutation SNP C C G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr8:65536986C>G uc003xvj.2 - 2 437 c.233G>C c.(232-234)GGT>GCT p.G78A NM_004820 NP_004811 O75881 CP7B1_HUMAN cytochrome P450, family 7, subfamily B, 78 bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome 25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity ovary(3) 3 all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215) GAAAGTGTCACCATGTTGCTT 0.368000 FAM135B 51059 broad.mit.edu 37 8 139263121 139263121 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr8:139263121G>A uc003yuy.2 - 6 676 c.505C>T c.(505-507)CAT>TAT p.H169Y FAM135B_uc003yux.2_Missense_Mutation_p.H70Y|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 169 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) AGGGCAGCATGGACGGTCACC 0.582000 HNSCC(54;0.14) ADAMTSL1 92949 broad.mit.edu 37 9 18706804 18706804 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr9:18706804G>A uc003zne.3 + 14 1761 c.1634G>A c.(1633-1635)CGA>CAA p.R545Q NM_001040272 NP_001035362 Q8N6G6 ATL1_HUMAN ADAMTS-like 1 isoform 4 precursor 545 TSP type-1 4. proteinaceous extracellular matrix metallopeptidase activity|zinc ion binding ovary(3)|upper_aerodigestive_tract(1)|lung(1) 5 GBM - Glioblastoma multiforme(50;1.29e-17) ACCCAGGTGCGAATAGTCAGG 0.602000 TRPM3 80036 broad.mit.edu 37 9 73442926 73442926 + Silent SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr9:73442926C>T uc004aid.2 - 6 1054 c.810G>A c.(808-810)CGG>CGA p.R270R TRPM3_uc004ahu.2_Silent_p.R100R|TRPM3_uc004ahv.2_Silent_p.R100R|TRPM3_uc004ahw.2_Silent_p.R117R|TRPM3_uc004ahx.2_Silent_p.R117R|TRPM3_uc004ahy.2_Silent_p.R117R|TRPM3_uc004ahz.2_Silent_p.R117R|TRPM3_uc004aia.2_Silent_p.R117R|TRPM3_uc004aib.2_Silent_p.R117R|TRPM3_uc004aic.2_Silent_p.R270R|TRPM3_uc010mor.2_Silent_p.R270R|TRPM3_uc004aie.2_Silent_p.R117R|TRPM3_uc004aif.2_Silent_p.R117R|TRPM3_uc004aig.2_Silent_p.R117R|TRPM3_uc004aii.2_Silent_p.R272R NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 270 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 TCTGGTATGGCCGGACAACCT 0.458000 TRPM6 140803 broad.mit.edu 37 9 77377031 77377031 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr9:77377031A>C uc004ajl.1 - 26 4794 c.4556T>G c.(4555-4557)CTT>CGT p.L1519R TRPM6_uc004ajk.1_Missense_Mutation_p.L1514R|TRPM6_uc010mpb.1_RNA|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Missense_Mutation_p.L475R NM_017662 NP_060132 Q9BX84 TRPM6_HUMAN transient receptor potential cation channel, 1519 Cytoplasmic (Potential). response to toxin integral to membrane ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity lung(3)|stomach(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|skin(1) 8 GTTTGGCTGAAGCCATGGTCC 0.498000 PALM2-AKAP2 445815 broad.mit.edu 37 9 112899268 112899268 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr9:112899268G>A uc004bei.2 + 9 2332 c.2140G>A c.(2140-2142)GAG>AAG p.E714K PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.E482K|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.E482K|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.E292K|AKAP2_uc011lwi.1_Missense_Mutation_p.E340K|AKAP2_uc004bem.2_Missense_Mutation_p.E340K|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.E300K|AKAP2_uc011lwj.1_Missense_Mutation_p.E251K|PALM2-AKAP2_uc004ben.2_Missense_Mutation_p.E251K NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 251 Potential. enzyme binding ovary(3)|central_nervous_system(2)|skin(1) 6 AAAAACCATCGAGGAGCAGCT 0.453000 TNC 3371 broad.mit.edu 37 9 117791715 117791715 + Silent SNP G G A rs150281525 TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr9:117791715G>A uc004bjj.3 - 25 6455 c.6093C>T c.(6091-6093)AAC>AAT p.N2031N TNC_uc010mvf.2_Silent_p.N1758N NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 2031 Fibrinogen C-terminal. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 TCTCGCGTCCGTTTTTGCGTC 0.383000 PAPPA 5069 broad.mit.edu 37 9 118973933 118973933 + Missense_Mutation SNP A A C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr9:118973933A>C uc004bjn.2 + 4 2021 c.1640A>C c.(1639-1641)AAC>ACC p.N547T PAPPA_uc011lxp.1_Intron|PAPPA_uc011lxq.1_Intron NM_002581 NP_002572 Q13219 PAPP1_HUMAN pregnancy-associated plasma protein A 547 Metalloprotease. cell differentiation|female pregnancy cytoplasm|extracellular region|membrane metalloendopeptidase activity|zinc ion binding ovary(4)|skin(4)|pancreas(1) 9 ATTGTCTTGAACCCATCTTTC 0.502000 FRMPD4 9758 broad.mit.edu 37 X 12627882 12627882 + Silent SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chrX:12627882G>A uc004cuz.1 + 3 707 c.201G>A c.(199-201)GAG>GAA p.E67E FRMPD4_uc011mij.1_Silent_p.E59E NM_014728 NP_055543 Q14CM0 FRPD4_HUMAN FERM and PDZ domain containing 4 67 positive regulation of synapse structural plasticity cytoskeleton|dendritic spine phosphatidylinositol-4,5-bisphosphate binding|protein binding central_nervous_system(5)|ovary(3)|skin(2)|large_intestine(1)|lung(1)|pancreas(1) 13 CTCGGTTAGAGAGCTGCCAAA 0.522000 MED12 9968 broad.mit.edu 37 X 70347218 70347218 + Missense_Mutation SNP G G A TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chrX:70347218G>A uc004dyy.2 + 21 3081 c.2882G>A c.(2881-2883)CGG>CAG p.R961Q MED12_uc011mpq.1_Missense_Mutation_p.R961Q|MED12_uc004dyz.2_Missense_Mutation_p.R961Q|MED12_uc004dza.2_Missense_Mutation_p.R808Q|MED12_uc010nla.2_5'Flank NM_005120 NP_005111 Q93074 MED12_HUMAN mediator complex subunit 12 961 R -> W (in OKS). androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding ovary(1)|breast(1)|central_nervous_system(1)|skin(1) 4 Renal(35;0.156) GGGATGAACCGGTCCGATGGC 0.522000 KLHL4 56062 broad.mit.edu 37 X 86887303 86887303 + Missense_Mutation SNP T T C TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chrX:86887303T>C uc004efb.2 + 7 1600 c.1418T>C c.(1417-1419)GTT>GCT p.V473A KLHL4_uc004efa.2_Missense_Mutation_p.V473A NM_019117 NP_061990 Q9C0H6 KLHL4_HUMAN kelch-like 4 isoform 1 473 Kelch 1. cytoplasm|microtubule cytoskeleton|nucleolus actin binding ovary(2)|lung(1)|breast(1)|central_nervous_system(1) 5 GGAGTCGCAGTTATTGATAAT 0.403000 CPXCR1 53336 broad.mit.edu 37 X 88008710 88008710 + Nonsense_Mutation SNP A A T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chrX:88008710A>T uc004efd.3 + 3 554 c.295A>T c.(295-297)AAA>TAA p.K99* CPXCR1_uc004efc.3_Nonsense_Mutation_p.K99* NM_033048 NP_149037 Q8N123 CPXCR_HUMAN CPX chromosome region, candidate 1 99 intracellular zinc ion binding ovary(3) 3 CATTCCCAGAAAATTGGTCTC 0.408000 DCAF12L2 340578 broad.mit.edu 37 X 125298766 125298766 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chrX:125298766T>G uc004euk.1 - 1 1169 c.1142A>C c.(1141-1143)AAG>ACG p.K381T NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 381 WD 4. lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 CTCCAGGAACTTCTGGGCGCG 0.632000 GABRE 2564 broad.mit.edu 37 X 151123878 151123878 + Missense_Mutation SNP T T G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chrX:151123878T>G uc004ffi.2 - 8 1153 c.1099A>C c.(1099-1101)AAC>CAC p.N367H GABRE_uc011myd.1_RNA NM_004961 NP_004952 P78334 GBRE_HUMAN gamma-aminobutyric acid (GABA) A receptor, 367 Cytoplasmic (Probable). gamma-aminobutyric acid signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity ovary(2) 2 Acute lymphoblastic leukemia(192;6.56e-05) TTTGTCTGGTTGTAGATCAGG 0.493000 PNMA3 29944 broad.mit.edu 37 X 152226465 152226465 + Missense_Mutation SNP A A T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chrX:152226465A>T uc004fhc.2 + 2 1389 c.1053A>T c.(1051-1053)GAA>GAT p.E351D PNMA5_uc004fha.3_5'Flank|PNMA3_uc004fhd.2_5'Flank NM_013364 NP_037496 Q9UL41 PNMA3_HUMAN paraneoplastic cancer-testis-brain antigen 351 apoptosis nucleolus nucleic acid binding|zinc ion binding skin(2)|large_intestine(1) 3 Acute lymphoblastic leukemia(192;6.56e-05) AGGGGCTGGAAGTAGCCCCAA 0.428000 SRY 6736 broad.mit.edu 37 Y 2655179 2655179 + Missense_Mutation SNP C C T TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chrY:2655179C>T uc004fqg.1 - 1 614 c.466G>A c.(466-468)GAA>AAA p.E156K NM_003140 NP_003131 Q05066 SRY_HUMAN sex determining region Y 156 cell differentiation|male sex determination|positive regulation of transcription, DNA-dependent|sex differentiation cytoplasm|nuclear speck DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding 0 AGTTGCACTTCGCTGCAGAGT 0.527000 Swyer_syndrome KIF11 3832 broad.mit.edu 37 10 94409609 94409610 + Frame_Shift_Del DEL AA AA - TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr10:94409609_94409610delAA uc001kic.2 + 20 3096_3097 c.2788_2789delAA c.(2788-2790)AAAfs p.K930fs KIF11_uc010qnq.1_RNA NM_004523 NP_004514 P52732 KIF11_HUMAN kinesin family member 11 930 blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding skin(1) 1 ACCACAGAGGAAAAGTTATTTA 0.337 C8orf80 389643 broad.mit.edu 37 8 27905066 27905066 + Frame_Shift_Del DEL G G - TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr8:27905066delG uc003xgm.3 - 11 1413 c.1270delC c.(1270-1272)CAGfs p.Q424fs NM_001010906 NP_001010906 Q68CJ6 SLIP_HUMAN speckled-like pattern in the germinal center 424 nucleus GTP binding|GTPase activity ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.0218) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.126)|Kidney(114;0.15)|Colorectal(74;0.181) CAGTACTCCTGGGCGCTGACT 0.453 ARID1A 8289 broad.mit.edu 37 1 27105931 27105932 + Frame_Shift_Ins INS - - G rs140055856 TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr1:27105930_27105931T>TG uc001bmv.1 + 19 5914_5915 c.5541_5542T>TG c.(5539-5544)ggtgggfs p.G1847fs ARID1A_uc001bmu.1_Frame_Shift_Ins_p.G1630fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.G693fs|ARID1A_uc009vsm.1_Frame_Shift_Ins_p.G175fs|ARID1A_uc009vsn.1_Frame_Shift_Ins_p.G89fs NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 1847 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding p.G1848fs*6(6)|p.G1847fs*36(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) GGCGGATTGGTGGGGGGGACAC 0.579 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" RHOJ 57381 broad.mit.edu 37 14 63757715 63757716 + Frame_Shift_Ins INS - - G TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr14:63757714_63757715A>AG uc001xgb.2 + 4 1103_1104 c.617_618A>AG c.(616-618)gagfs p.E206fs NM_020663 NP_065714 Q9H4E5 RHOJ_HUMAN Homo sapiens ras homolog gene family, member J (RHOJ), mRNA. 206 actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction cytosol|plasma membrane GTP binding|GTPase activity NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1) 21 OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119) CGCTGTTCTGAGGGTCACAGCT 0.500 C15orf2 23742 broad.mit.edu 37 15 24922934 24922934 + Frame_Shift_Del DEL A A - TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr15:24922933_24922933GA>G uc001ywo.3 + 0 2393 c.1919_1919GA>G c.(1918-1920)ggafs p.G640fs NM_018958 NP_061831 Q9NZP6 CO002_HUMAN Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA. 640 cell differentiation|multicellular organismal development|spermatogenesis NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8) 140 all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086) all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229) CAACTCTTTGGAAAAGAAGCC 0.507 SLC7A6OS 84138 broad.mit.edu 37 16 68335220 68335222 + In_Frame_Del DEL CTT CTT - TCGA-D7-A4YU-01A-21D-A25D-08 TCGA-D7-A4YU-10A-01D-A25E-08 Untested Somatic Phase_I WXS none Illumina GAIIx 63220bf2-a703-4487-b97c-3be4140b4f0d 63ddf1ce-74da-436e-ab08-d445c7b1860a g.chr16:68335219_68335221CCTT>C uc002evw.2 - 4 926_928 c.887_889AAGG>G c.(886-891)aaggag>aGag p.296_297KE>R SLC7A6_uc002evv.2_Non-coding_Transcript|SLC7A6_uc002evt.2_3'UTR|SLC7A6_uc002evu.2_3'UTR|SLC7A6_uc010cfc.1_Non-coding_Transcript NM_032178 NP_115554 Q96CW6 S7A6O_HUMAN Homo sapiens solute carrier family 7, member 6 opposite strand (SLC7A6OS), mRNA. 296 protein transport cytoplasm|nucleus breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1) 10 Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.034)|Epithelial(162;0.106) TAGCCGAACTCCTTCTGCACATC 0.547