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 CLSTN1 22883 broad.mit.edu 37 1 9795564 9795564 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr1:9795564G>A uc001aqh.2 - 13 2603 c.1844C>T c.(1843-1845)ACG>ATG p.T615M CLSTN1_uc001aqi.2_Missense_Mutation_p.T605M|CLSTN1_uc010oag.1_Missense_Mutation_p.T596M|CLSTN1_uc001aqf.2_5'Flank NM_001009566 NP_001009566 O94985 CSTN1_HUMAN calsyntenin 1 isoform 1 615 Extracellular (Potential). homophilic cell adhesion cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane calcium ion binding skin(1) 1 all_lung(157;0.222) all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419) AATTCCGGGCGTGGGGAACTG 0.507000 LRRIQ3 127255 broad.mit.edu 37 1 74648428 74648428 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr1:74648428T>G uc001dfy.3 - 3 559 c.367A>C c.(367-369)ACC>CCC p.T123P LRRIQ3_uc001dfz.3_RNA NM_001105659 NP_001099129 A6PVS8 LRIQ3_HUMAN leucine-rich repeats and IQ motif containing 3 123 ovary(2) 2 GCAATGAGGGTTGGACAGGCA 0.368000 TNNI3K 51086 broad.mit.edu 37 1 74957799 74957799 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr1:74957799A>C uc001dgf.1 + 23 2251 c.2200A>C c.(2200-2202)AGT>CGT p.S734R TNNI3K_uc001dge.1_Missense_Mutation_p.S835R NM_015978 NP_057062 Q59H18 TNI3K_HUMAN TNNI3 interacting kinase isoform b 734 Poly-Ser. cytoplasm|nucleus ATP binding|metal ion binding|protein C-terminus binding|protein serine/threonine kinase activity|troponin I binding large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(1) 10 TCCTGCATCAAGTAACAGCAG 0.453000 ELTD1 64123 broad.mit.edu 37 1 79404899 79404899 + Missense_Mutation SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr1:79404899C>A uc001diq.3 - 4 526 c.370G>T c.(370-372)GCA>TCA p.A124S NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN EGF, latrophilin and seven transmembrane domain 124 Extracellular (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(1)|skin(1) 2 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TTAATATTTGCAGCTATACAG 0.244000 GJA8 2703 broad.mit.edu 37 1 147381267 147381267 + Silent SNP G G T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr1:147381267G>T uc001epu.1 + 2 1248 c.1185G>T c.(1183-1185)GGG>GGT p.G395G NM_005267 NP_005258 P48165 CXA8_HUMAN connexin 50 395 Cytoplasmic (Potential). cell communication|visual perception connexon complex|integral to plasma membrane channel activity ovary(2)|large_intestine(2)|breast(1)|skin(1) 6 all_hematologic(923;0.0276) CAAAGCAAGGGCTGCCAGCTG 0.577000 FLG2 388698 broad.mit.edu 37 1 152323733 152323733 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr1:152323733T>C uc001ezw.3 - 3 6602 c.6529A>G c.(6529-6531)AGA>GGA p.R2177G uc001ezv.2_Intron NM_001014342 NP_001014364 Q5D862 FILA2_HUMAN filaggrin family member 2 2177 Filaggrin 10. calcium ion binding|structural molecule activity ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1) 17 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGACTAGATCTTTGTCTTCCA 0.512000 CD1C 911 broad.mit.edu 37 1 158261177 158261177 + Missense_Mutation SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr1:158261177A>T uc001fru.2 + 2 607 c.315A>T c.(313-315)CAA>CAT p.Q105H CD1C_uc001frv.2_5'Flank NM_001765 NP_001756 P29017 CD1C_HUMAN CD1C antigen precursor 105 Extracellular (Potential). 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) ATGCAAGTCAAGATTACTCGA 0.373000 CD1E 913 broad.mit.edu 37 1 158324361 158324361 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr1:158324361T>G uc001fse.2 + 2 492 c.253T>G c.(253-255)TTC>GTC p.F85V CD1E_uc010pid.1_Missense_Mutation_p.F83V|CD1E_uc010pie.1_Intron|CD1E_uc010pif.1_Intron|CD1E_uc001fsd.2_Missense_Mutation_p.F85V|CD1E_uc001fsk.2_Missense_Mutation_p.F85V|CD1E_uc001fsj.2_Missense_Mutation_p.F85V|CD1E_uc001fsc.2_Intron|CD1E_uc010pig.1_Intron|CD1E_uc001fsa.2_Intron|CD1E_uc001fsf.2_Missense_Mutation_p.F85V|CD1E_uc001fry.2_Missense_Mutation_p.F85V|CD1E_uc001fsg.2_Intron|CD1E_uc001fsh.2_Intron|CD1E_uc001fsi.2_Missense_Mutation_p.F85V|CD1E_uc009wsv.2_Intron|CD1E_uc001frz.2_Missense_Mutation_p.F85V|CD1E_uc009wsw.2_5'Flank NM_030893 NP_112155 P15812 CD1E_HUMAN CD1E antigen isoform a precursor 85 antigen processing and presentation|immune response early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen skin(3) 3 all_hematologic(112;0.0378) CCATGGAAACTTCAGCAAGCA 0.498000 NR5A2 2494 broad.mit.edu 37 1 200090021 200090021 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr1:200090021G>A uc001gvb.2 + 7 1522 c.1316G>A c.(1315-1317)CGT>CAT p.R439H NR5A2_uc001gvc.2_Missense_Mutation_p.R393H|NR5A2_uc009wzh.2_Missense_Mutation_p.R399H|NR5A2_uc010pph.1_Missense_Mutation_p.R367H NM_205860 NP_995582 O00482 NR5A2_HUMAN nuclear receptor subfamily 5, group A, member 2 439 embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Prostate(682;0.19) GCAAAACTTCGTTCTCTCCAG 0.438000 IGFN1 91156 broad.mit.edu 37 1 201185695 201185695 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr1:201185695G>A uc001gwc.2 + 5 1661 c.889G>A c.(889-891)GTG>ATG p.V297M IGFN1_uc001gwb.2_RNA NM_178275 NP_840059 RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1; ovary(2)|pancreas(1) 3 AGAGTGCTACGTGGTGGAGAG 0.667000 C4BPA 722 broad.mit.edu 37 1 207317917 207317917 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr1:207317917T>C uc001hfo.2 + 12 1843 c.1649T>C c.(1648-1650)CTC>CCC p.L550P NM_000715 NP_000706 P04003 C4BPA_HUMAN complement component 4 binding protein, alpha 550 complement activation, classical pathway|innate immune response extracellular region protein binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 GAACAAGTGCTCACAGGCAAA 0.463000 HHIPL2 79802 broad.mit.edu 37 1 222721161 222721161 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr1:222721161G>A uc001hnh.1 - 1 284 c.226C>T c.(226-228)CGC>TGC p.R76C NM_024746 NP_079022 Q6UWX4 HIPL2_HUMAN HHIP-like 2 precursor 76 carbohydrate metabolic process extracellular region oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding ovary(1) 1 GBM - Glioblastoma multiforme(131;0.0185) GCGATGCGGCGGTCCTTGTGC 0.532000 OR2B11 127623 broad.mit.edu 37 1 247614817 247614817 + Silent SNP G G T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr1:247614817G>T uc010pyx.1 - 1 468 c.468C>A c.(466-468)GGC>GGA p.G156G NM_001004492 NP_001004492 Q5JQS5 OR2BB_HUMAN olfactory receptor, family 2, subfamily B, 156 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity upper_aerodigestive_tract(1) 1 all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) all_cancers(173;0.241) OV - Ovarian serous cystadenocarcinoma(106;0.0188) AGTTGCCGAAGCCACTGAGCC 0.612000 OR14A16 284532 broad.mit.edu 37 1 247978499 247978499 + Missense_Mutation SNP T T A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr1:247978499T>A uc001idm.1 - 1 533 c.533A>T c.(532-534)GAC>GTC p.D178V NM_001001966 NP_001001966 Q8NHC5 O14AG_HUMAN olfactory receptor, family 14, subfamily A, 178 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 CTGGGGAATGTCACAGAAGAA 0.413000 OR2M5 127059 broad.mit.edu 37 1 248308897 248308897 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr1:248308897A>G uc010pze.1 + 1 448 c.448A>G c.(448-450)ATC>GTC p.I150V NM_001004690 NP_001004690 A3KFT3 OR2M5_HUMAN olfactory receptor, family 2, subfamily M, 150 Helical; Name=4; (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) CTTCTCCTGGATCCTGGGCTC 0.458000 OR2T1 26696 broad.mit.edu 37 1 248569626 248569626 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr1:248569626T>G uc010pzm.1 + 1 331 c.331T>G c.(331-333)TTC>GTC p.F111V NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 111 Helical; Name=2; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) ACCCATGTACTTCCTCCTCAG 0.428000 PFKP 5214 broad.mit.edu 37 10 3147323 3147323 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr10:3147323G>A uc001igp.2 + 6 673 c.637G>A c.(637-639)GTT>ATT p.V213I PFKP_uc001igq.2_Missense_Mutation_p.V205I|PFKP_uc009xhr.2_Missense_Mutation_p.V175I|PFKP_uc009xhs.1_5'UTR|PFKP_uc009xht.2_5'Flank NM_002627 NP_002618 Q01813 K6PP_HUMAN phosphofructokinase, platelet 213 glycolysis 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142) GAGGACCTTCGTTCTGGAGGT 0.607000 ARMC4 55130 broad.mit.edu 37 10 28224130 28224130 + Missense_Mutation SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr10:28224130C>A uc009xky.2 - 16 2402 c.2304G>T c.(2302-2304)CAG>CAT p.Q768H ARMC4_uc010qds.1_Missense_Mutation_p.Q293H|ARMC4_uc010qdt.1_Missense_Mutation_p.Q460H|ARMC4_uc001itz.2_Missense_Mutation_p.Q768H NM_018076 NP_060546 Q5T2S8 ARMC4_HUMAN armadillo repeat containing 4 768 ARM 5. binding ovary(4)|skin(2) 6 CTTCTTCAGGCTGATCTGTTA 0.443000 TACC2 10579 broad.mit.edu 37 10 123843296 123843296 + Silent SNP T T A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr10:123843296T>A uc001lfv.2 + 4 1641 c.1281T>A c.(1279-1281)GCT>GCA p.A427A TACC2_uc001lfw.2_Intron|TACC2_uc009xzx.2_Silent_p.A427A|TACC2_uc010qtv.1_Silent_p.A427A NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 427 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CATTCCCAGCTGCTCAGATTC 0.557000 MUC6 4588 broad.mit.edu 37 11 1016757 1016757 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr11:1016757G>A uc001lsw.2 - 31 6095 c.6044C>T c.(6043-6045)TCC>TTC p.S2015F NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 2015 Thr-rich. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) AGTCACCAAGGAGGTGGAGAA 0.542000 MUC5B 727897 broad.mit.edu 37 11 1267074 1267074 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr11:1267074G>A uc009ycr.1 + 49 10839 c.10713G>A c.(10711-10713)GGG>GGA p.G3571G MUC5B_uc001ltb.2_Silent_p.G2991G NM_017511 NP_059981 Q9HC84 MUC5B_HUMAN SubName: Full=Mucin 5AC, oligomeric mucus/gel-forming; 2988 7 X Cys-rich subdomain repeats.|Thr-rich.|17 X approximate tandem repeats, Ser/Thr- rich. Missing (in Ref. 6; AAB61398). cell adhesion extracellular region extracellular matrix structural constituent|protein binding 0 all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1) CCACTCCAGGGACGACCTGGA 0.637000 OR51E1 143503 broad.mit.edu 37 11 4674666 4674666 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr11:4674666C>T uc001lzi.3 + 2 1054 c.910C>T c.(910-912)CGC>TGC p.R304C NM_152430 NP_689643 Q8TCB6 O51E1_HUMAN olfactory receptor, family 51, subfamily E, 303 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity large_intestine(3)|pancreas(1) 4 Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227) Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19) GATTCGACAGCGCATCCTTCG 0.478000 OR2D2 120776 broad.mit.edu 37 11 6913041 6913041 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr11:6913041T>G uc010rau.1 - 1 691 c.691A>C c.(691-693)ACT>CCT p.T231P NM_003700 NP_003691 Q9H210 OR2D2_HUMAN olfactory receptor, family 2, subfamily D, 231 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity central_nervous_system(1)|skin(1) 2 Medulloblastoma(188;0.0523)|all_neural(188;0.236) Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129) CTCCCCACAGTTGACTTCATC 0.438000 TPH1 7166 broad.mit.edu 37 11 18062241 18062241 + Silent SNP G G C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr11:18062241G>C uc001mnp.2 - 1 95 c.69C>G c.(67-69)TCC>TCG p.S23S TPH1_uc009yhe.2_RNA NM_004179 NP_004170 P17752 TPH1_HUMAN tryptophan hydroxylase 1 23 ACT. aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process cytosol amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity 0 L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360) CATTCTTTAAGGAAAAAATGA 0.328000 ACCSL 390110 broad.mit.edu 37 11 44074584 44074584 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr11:44074584A>C uc001mxw.1 + 7 970 c.914A>C c.(913-915)AAG>ACG p.K305T ACCSL_uc009ykr.2_Missense_Mutation_p.K124T NM_001031854 NP_001027025 Q4AC99 1A1L2_HUMAN 1-aminocyclopropane-1-carboxylate synthase 305 1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups ovary(5) 5 ACTGTGGACAAGTTAGAGGAA 0.438000 OR1S1 219959 broad.mit.edu 37 11 57982698 57982698 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr11:57982698C>T uc010rkc.1 + 1 482 c.482C>T c.(481-483)TCA>TTA p.S161L NM_001004458 NP_001004458 Q8NH92 OR1S1_HUMAN olfactory receptor, family 1, subfamily S, 161 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1) 1 Breast(21;0.0589) ACAGTCATCTCATGGTTCCTC 0.473000 SCGB1D4 404552 broad.mit.edu 37 11 62064966 62064966 + Nonsense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr11:62064966G>A uc001ntd.1 - 2 274 c.220C>T c.(220-222)CGA>TGA p.R74* NM_206998 NP_996881 Q6XE38 SG1D4_HUMAN secretoglobin family 1D member 4 precursor 74 extracellular region binding 0 AATGAGAGTCGTTTCTTAAAA 0.448000 AHNAK 79026 broad.mit.edu 37 11 62298581 62298581 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr11:62298581A>G uc001ntl.2 - 5 3608 c.3308T>C c.(3307-3309)ATC>ACC p.I1103T AHNAK_uc001ntk.1_Intron NM_001620 NP_001611 Q09666 AHNK_HUMAN AHNAK nucleoprotein isoform 1 1103 nervous system development nucleus protein binding ovary(10)|pancreas(4)|skin(4)|upper_aerodigestive_tract(1) 19 Melanoma(852;0.155) GGGACCTCTGATGTCCACATC 0.458000 FAM89B 23625 broad.mit.edu 37 11 65341036 65341036 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr11:65341036C>T uc001oem.2 + 2 776 c.455C>T c.(454-456)CCG>CTG p.P152L FAM89B_uc001oen.2_3'UTR|FAM89B_uc001oel.2_Missense_Mutation_p.P165L|EHBP1L1_uc001oeo.3_5'Flank NM_152832 NP_690045 Q8N5H3 FA89B_HUMAN family with sequence similarity 89, member B 152 0 CCTCCTGACCCGCCACCCCTT 0.662000 ANKRD42 338699 broad.mit.edu 37 11 82938901 82938901 + Silent SNP T T A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr11:82938901T>A uc001ozz.1 + 7 1238 c.816T>A c.(814-816)ACT>ACA p.T272T ANKRD42_uc010rsv.1_Silent_p.T300T|ANKRD42_uc001paa.2_Silent_p.T300T|ANKRD42_uc001pab.1_Silent_p.T299T NM_182603 NP_872409 Q8N9B4 ANR42_HUMAN ankyrin repeat domain 42 272 ANK 8. skin(1) 1 ATGGATCAACTCCTATGCATA 0.378000 SLC35F2 54733 broad.mit.edu 37 11 107663456 107663456 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr11:107663456G>A uc001pjq.2 - 8 1431 c.1010C>T c.(1009-1011)ACT>ATT p.T337I SLC35F2_uc010rvu.1_Missense_Mutation_p.T189I NM_017515 NP_059985 Q8IXU6 S35F2_HUMAN solute carrier family 35, member F2 337 transport integral to membrane central_nervous_system(1) 1 all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104) BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217) GGCCGTGCGAGTAGGGGTGGA 0.557000 EXPH5 23086 broad.mit.edu 37 11 108383530 108383530 + Missense_Mutation SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr11:108383530A>T uc001pkk.2 - 6 2815 c.2704T>A c.(2704-2706)TCT>ACT p.S902T EXPH5_uc010rvy.1_Missense_Mutation_p.S714T|EXPH5_uc010rvz.1_Missense_Mutation_p.S746T|EXPH5_uc010rwa.1_Missense_Mutation_p.S826T NM_015065 NP_055880 Q8NEV8 EXPH5_HUMAN exophilin 5 isoform a 902 intracellular protein transport Rab GTPase binding skin(3)|ovary(2) 5 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) ACTGTAGTAGATGGAACCACA 0.443000 ARHGAP20 57569 broad.mit.edu 37 11 110451100 110451100 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr11:110451100A>G uc001pkz.1 - 16 2855 c.2570T>C c.(2569-2571)CTG>CCG p.L857P ARHGAP20_uc001pky.1_Missense_Mutation_p.L834P|ARHGAP20_uc009yyb.1_Missense_Mutation_p.L821P|ARHGAP20_uc001pla.1_Missense_Mutation_p.L821P|ARHGAP20_uc001plb.2_Missense_Mutation_p.L400P NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 857 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3)|kidney(2) 5 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) GAGATAGGTCAGCTTGCGGTT 0.493000 BCO2 83875 broad.mit.edu 37 11 112046403 112046403 + Missense_Mutation SNP C C T rs149163526 TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr11:112046403C>T uc001pnf.2 + 1 196 c.79C>T c.(79-81)CGG>TGG p.R27W BCO2_uc001pne.1_5'UTR|BCO2_uc001png.2_Missense_Mutation_p.R27W|BCO2_uc001pnh.2_5'Flank|BCO2_uc010rwt.1_5'Flank|BCO2_uc009yyn.2_5'Flank|BCO2_uc001pni.2_5'Flank NM_031938 NP_114144 Q9BYV7 BCDO2_HUMAN beta-carotene dioxygenase 2 isoform a 27 carotene metabolic process|retinal metabolic process|retinoic acid metabolic process metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen 0 GATGGTGCACCGGCTCCCAGG 0.483000 IL10RA 3587 broad.mit.edu 37 11 117864106 117864106 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr11:117864106A>C uc001prv.2 + 4 595 c.518A>C c.(517-519)AAG>ACG p.K173T IL10RA_uc010rxl.1_Missense_Mutation_p.K153T|IL10RA_uc010rxm.1_Missense_Mutation_p.K153T|IL10RA_uc010rxn.1_Missense_Mutation_p.K24T|IL10RA_uc001prw.2_Missense_Mutation_p.K24T NM_001558 NP_001549 Q13651 I10R1_HUMAN interleukin 10 receptor, alpha precursor 173 Extracellular (Potential). integral to membrane|plasma membrane interleukin-10 receptor activity ovary(1) 1 all_hematologic(175;0.0487) Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234) BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108) GCCATTCGCAAGGTGCCGGGA 0.572000 SC5DL 6309 broad.mit.edu 37 11 121174091 121174091 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr11:121174091C>T uc001pxu.2 + 2 155 c.7C>T c.(7-9)CTT>TTT p.L3F SC5DL_uc001pxs.1_Missense_Mutation_p.L3F|SC5DL_uc001pxt.2_Missense_Mutation_p.L3F|SC5DL_uc001pxv.2_Missense_Mutation_p.L3F NM_006918 NP_008849 O75845 SC5D_HUMAN sterol-C5-desaturase 3 fatty acid biosynthetic process endoplasmic reticulum membrane|integral to membrane C-5 sterol desaturase activity|iron ion binding|lathosterol oxidase activity ovary(1) 1 Breast(109;0.00328)|Medulloblastoma(222;0.0425)|all_neural(223;0.112) OV - Ovarian serous cystadenocarcinoma(1;0.0334) BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.144) AGTGATGGATCTTGTACTCCG 0.373000 TMEM225 338661 broad.mit.edu 37 11 123754862 123754862 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr11:123754862T>C uc001pzi.2 - 3 591 c.383A>G c.(382-384)CAA>CGA p.Q128R NM_001013743 NP_001013765 Q6GV28 TM225_HUMAN transmembrane protein 225 128 integral to membrane upper_aerodigestive_tract(1)|pancreas(1)|skin(1) 3 GTGCATGGATTGACCTTGCTT 0.373000 PRB2 653247 broad.mit.edu 37 12 11546745 11546745 + Silent SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr12:11546745A>G uc010shk.1 - 3 302 c.267T>C c.(265-267)CCT>CCC p.P89P NM_006248 NP_006239 proline-rich protein BstNI subfamily 2 0 all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09) OV - Ovarian serous cystadenocarcinoma(49;0.185) GGGGACCTTGAGGTTTGTTGC 0.617000 EPS8 2059 broad.mit.edu 37 12 15811059 15811059 + Missense_Mutation SNP G G C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr12:15811059G>C uc009zif.2 - 12 1149 c.1055C>G c.(1054-1056)CCT>CGT p.P352R EPS8_uc001rdb.2_Missense_Mutation_p.P352R|EPS8_uc009zig.2_Missense_Mutation_p.P92R|EPS8_uc010shv.1_Missense_Mutation_p.P92R NM_004447 NP_004438 Q12929 EPS8_HUMAN epidermal growth factor receptor pathway 352 cell proliferation|epidermal growth factor receptor signaling pathway SH3/SH2 adaptor activity ovary(2)|upper_aerodigestive_tract(1)|skin(1) 4 all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244) BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264) TGCAGCACTAGGATTCTGAAT 0.343000 SLCO1C1 53919 broad.mit.edu 37 12 20876091 20876091 + Silent SNP T T A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr12:20876091T>A uc001rej.3 + 10 1444 c.1089T>A c.(1087-1089)ACT>ACA p.T363T SLCO1C1_uc010sii.1_Silent_p.T363T|SLCO1C1_uc010sij.1_Silent_p.T314T|SLCO1C1_uc009zip.2_Silent_p.T197T|SLCO1C1_uc001rei.2_Silent_p.T363T|SLCO1C1_uc010sik.1_Silent_p.T245T NM_017435 NP_059131 Q9NYB5 SO1C1_HUMAN solute carrier organic anion transporter family, 363 Helical; Name=7; (Potential). sodium-independent organic anion transport integral to membrane|plasma membrane thyroid hormone transmembrane transporter activity ovary(5)|pancreas(1)|skin(1) 7 Esophageal squamous(101;0.149) GTACAAGCACTGTTCAGTTCA 0.378000 BCAT1 586 broad.mit.edu 37 12 25047227 25047227 + Silent SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr12:25047227A>C uc001rgd.3 - 3 703 c.261T>G c.(259-261)GCT>GCG p.A87A BCAT1_uc001rgc.2_Silent_p.A86A|BCAT1_uc010six.1_Silent_p.A99A|BCAT1_uc010siy.1_Silent_p.A87A|BCAT1_uc001rge.3_Silent_p.A63A NM_005504 NP_005495 P54687 BCAT1_HUMAN branched chain aminotransferase 1, cytosolic 87 branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle cytosol L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity lung(1)|breast(1) 2 Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196) Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114) CATAGTGCAAAGCTGATGAGC 0.468000 ADAMTS20 80070 broad.mit.edu 37 12 43821195 43821195 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr12:43821195G>A uc010skx.1 - 27 4023 c.4023C>T c.(4021-4023)TAC>TAT p.Y1341Y ADAMTS20_uc001rno.1_Silent_p.Y459Y NM_025003 NP_079279 P59510 ATS20_HUMAN a disintegrin-like and metalloprotease with 1341 TSP type-1 9. proteinaceous extracellular matrix zinc ion binding central_nervous_system(5)|ovary(4)|lung(3)|large_intestine(2)|skin(2)|urinary_tract(1)|kidney(1)|pancreas(1) 19 all_cancers(12;2.6e-05)|Lung SC(27;0.184) Lung NSC(34;0.0569)|all_lung(34;0.129) GBM - Glioblastoma multiforme(48;0.0473) CTGCATCGCAGTAACTAGCAC 0.468000 KRT73 319101 broad.mit.edu 37 12 53010156 53010156 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr12:53010156G>A uc001sas.2 - 2 491 c.456C>T c.(454-456)TTC>TTT p.F152F NM_175068 NP_778238 Q86Y46 K2C73_HUMAN keratin 73 152 Coil 1A.|Rod. keratin filament structural molecule activity large_intestine(2)|ovary(2)|skin(2) 6 BRCA - Breast invasive adenocarcinoma(357;0.189) GCTGCTCCAGGAACCGCACCT 0.522000 DGKA 1606 broad.mit.edu 37 12 56335305 56335305 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr12:56335305A>C uc001sij.2 + 15 1451 c.1187A>C c.(1186-1188)AAG>ACG p.K396T DGKA_uc001sih.1_Missense_Mutation_p.K284T|DGKA_uc001sii.1_Missense_Mutation_p.K254T|DGKA_uc009zod.1_Missense_Mutation_p.K315T|DGKA_uc001sik.2_Missense_Mutation_p.K396T|DGKA_uc001sil.2_Missense_Mutation_p.K396T|DGKA_uc001sim.2_Missense_Mutation_p.K396T|DGKA_uc001sin.2_Missense_Mutation_p.K396T|DGKA_uc009zof.2_Missense_Mutation_p.K42T|DGKA_uc001sio.2_Missense_Mutation_p.K138T NM_001345 NP_001336 P23743 DGKA_HUMAN diacylglycerol kinase, alpha 80kDa 396 DAGKc. activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation plasma membrane ATP binding|calcium ion binding|diacylglycerol kinase activity ovary(3)|pancreas(1) 4 Vitamin E(DB00163) GTGCTCTGGAAGTTCCAGTAT 0.498000 CCDC41 51134 broad.mit.edu 37 12 94763808 94763808 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr12:94763808T>C uc001tdd.2 - 9 1524 c.938A>G c.(937-939)AAA>AGA p.K313R CCDC41_uc001tde.2_Missense_Mutation_p.K313R|CCDC41_uc009zsw.1_RNA|CCDC41_uc001tdf.2_Missense_Mutation_p.K313R NM_016122 NP_057206 Q9Y592 CCD41_HUMAN NY-REN-58 antigen 305 Potential. 0 TTTAAGTTCTTTTACCTGTTG 0.333000 CCDC38 120935 broad.mit.edu 37 12 96273421 96273421 + Splice_Site SNP C C G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr12:96273421C>G uc001tek.1 - 12 1376 c.1142_splice c.e12+1 p.T381_splice NM_182496 NP_872302 Q502W7 CCD38_HUMAN coiled-coil domain containing 38 skin(1) 1 TAATGACTTACGTTTTATCCT 0.368000 MYO1H 283446 broad.mit.edu 37 12 109844646 109844646 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr12:109844646T>G uc010sxn.1 + 8 968 c.968T>G c.(967-969)ATT>AGT p.I323S NM_001101421 NP_001094891 Q8N1T3 MYO1H_HUMAN myosin 1H 70 myosin complex motor activity 0 CACAGAAAAATTGAAGCCAAA 0.498000 KSR2 283455 broad.mit.edu 37 12 117909125 117909125 + Silent SNP G G T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr12:117909125G>T uc001two.2 - 18 2551 c.2496C>A c.(2494-2496)GGC>GGA p.G832G NM_173598 NP_775869 Q6VAB6 KSR2_HUMAN kinase suppressor of ras 2 861 Protein kinase. intracellular signal transduction cytoplasm|membrane ATP binding|metal ion binding|protein serine/threonine kinase activity lung(10)|central_nervous_system(2)|stomach(1)|large_intestine(1)|breast(1) 15 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) ACCAGATTGTGCTGTTGGCAG 0.522000 SBNO1 55206 broad.mit.edu 37 12 123794051 123794051 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr12:123794051G>A uc010tap.1 - 26 3522 c.3522C>T c.(3520-3522)CAC>CAT p.H1174H SBNO1_uc009zxv.2_RNA|SBNO1_uc010tao.1_Silent_p.H1173H|SBNO1_uc010taq.1_Silent_p.H125H|SBNO1_uc001ues.1_Silent_p.H125H NM_018183 NP_060653 A3KN83 SBNO1_HUMAN sno, strawberry notch homolog 1 1174 ATP binding|DNA binding|hydrolase activity breast(5)|skin(2)|ovary(1)|kidney(1) 9 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197) ATAATTCTACGTGGCCAGAGG 0.348000 BRCA2 675 broad.mit.edu 37 13 32972435 32972435 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr13:32972435A>C uc001uub.1 + 27 10012 c.9785A>C c.(9784-9786)CAA>CCA p.Q3262P NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 3262 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) ATTGATGACCAAAAGAACTGC 0.438000 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) BRCA2 675 broad.mit.edu 37 13 32972587 32972587 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr13:32972587A>C uc001uub.1 + 27 10164 c.9937A>C c.(9937-9939)AAG>CAG p.K3313Q NM_000059 NP_000050 P51587 BRCA2_HUMAN breast cancer 2, early onset 3313 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding ovary(20)|endometrium(8)|lung(7)|breast(7)|oesophagus(5)|large_intestine(4)|central_nervous_system(3)|pancreas(3)|skin(2)|upper_aerodigestive_tract(1)|cervix(1)|salivary_gland(1)|liver(1)|kidney(1) 64 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AACACCCATAAAGAAAAAAGA 0.388000 D|Mis|N|F|S breast|ovarian|pancreatic breast|ovarian|pancreatic|leukemia (FANCB|FANCD1) Direct_reversal_of_damage|Homologous_recombination Fanconi_Anemia_type_D1_bi-allelic_BRCA2_mutations|Fanconi_Anemia|Pancreatic_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_BRCA2_type|Hereditary_Prostate_Cancer|Li-Fraumeni_syndrome TCGA Ovarian(8;0.087) KIAA0564 23078 broad.mit.edu 37 13 42465633 42465633 + Silent SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr13:42465633A>G uc001uyj.2 - 5 644 c.574T>C c.(574-576)TTG>CTG p.L192L KIAA0564_uc001uyk.2_Silent_p.L192L NM_015058 NP_055873 A3KMH1 K0564_HUMAN hypothetical protein LOC23078 isoform a 192 extracellular region ATP binding|ATPase activity ovary(3)|upper_aerodigestive_tract(1)|kidney(1)|skin(1) 6 Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969) TTTTCCAGCAAGTTGTTCAAA 0.448000 PCDH20 64881 broad.mit.edu 37 13 61985896 61985896 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr13:61985896A>G uc001vid.3 - 2 2700 c.2336T>C c.(2335-2337)GTC>GCC p.V779A PCDH20_uc010thj.1_Missense_Mutation_p.V779A NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 752 Cadherin 6.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GTAAGCTATGACAGCATTCAT 0.473000 SLITRK5 26050 broad.mit.edu 37 13 88328652 88328652 + Missense_Mutation SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr13:88328652C>A uc001vln.2 + 2 1228 c.1009C>A c.(1009-1011)CCC>ACC p.P337T SLITRK5_uc010tic.1_Missense_Mutation_p.P96T NM_015567 NP_056382 O94991 SLIK5_HUMAN SLIT and NTRK-like family, member 5 precursor 337 Extracellular (Potential). integral to membrane ovary(2)|pancreas(2)|central_nervous_system(1) 5 all_neural(89;0.101)|Medulloblastoma(90;0.163) GACTCGCCAACCCAACAAGCC 0.587000 MIA2 117153 broad.mit.edu 37 14 39709847 39709847 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr14:39709847C>T uc001wux.2 + 3 526 c.332C>T c.(331-333)ACG>ATG p.T111M MIA2_uc010amy.1_Missense_Mutation_p.T42M NM_054024 NP_473365 Q96PC5 MIA2_HUMAN melanoma inhibitory activity 2 111 SH3. extracellular region ovary(1)|breast(1) 2 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0216) CAGATGTCAACGAAAGTGAGT 0.348000 FAM179B 23116 broad.mit.edu 37 14 45433301 45433301 + Silent SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr14:45433301A>G uc001wvv.2 + 1 1886 c.1677A>G c.(1675-1677)CAA>CAG p.Q559Q FAM179B_uc001wvw.2_Silent_p.Q559Q|FAM179B_uc010anc.2_RNA|KLHL28_uc001wvq.2_5'Flank|KLHL28_uc001wvr.2_5'Flank|FAM179B_uc010anb.1_Silent_p.Q559Q|FAM179B_uc001wvu.2_Silent_p.Q559Q NM_015091 NP_055906 Q9Y4F4 F179B_HUMAN hypothetical protein LOC23116 559 binding skin(2)|upper_aerodigestive_tract(1) 3 TTGAACTGCAAGATAATGGAG 0.453000 TBPL2 387332 broad.mit.edu 37 14 55881108 55881108 + Nonsense_Mutation SNP T T A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr14:55881108T>A uc001xby.2 - 7 1117 c.1117A>T c.(1117-1119)AAA>TAA p.K373* FBXO34_uc001xbv.2_Intron|KIAA0831_uc001xbx.1_5'Flank NM_199047 NP_950248 Q6SJ96 TBPL2_HUMAN TATA box binding protein like 2 373 multicellular organismal development|transcription initiation from RNA polymerase II promoter cytoplasm|nucleus DNA binding 0 CAGGCTTTTTTAAAACCTTTT 0.328000 GPX2 2877 broad.mit.edu 37 14 65406340 65406340 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr14:65406340G>A uc010tsn.1 - 3 526 c.439C>T c.(439-441)CGC>TGC p.R147C CHURC1_uc010tsj.1_Intron|CHURC1_uc010tsk.1_Intron|FNTB_uc010tsl.1_Intron|FNTB_uc010tsm.1_Intron|GPX2_uc001xhy.1_RNA NM_002083 NP_002074 P18283 GPX2_HUMAN glutathione peroxidase 2 147 response to oxidative stress cytoplasm electron carrier activity|glutathione peroxidase activity ovary(1) 1 all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971) Glutathione(DB00143) ACATCTGAGCGGCGCACAGGG 0.562000 KIAA1409 57578 broad.mit.edu 37 14 94060075 94060075 + Missense_Mutation SNP G G A rs139389360 TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr14:94060075G>A uc001ybv.1 + 20 2634 c.2551G>A c.(2551-2553)GTC>ATC p.V851I KIAA1409_uc001ybs.1_Missense_Mutation_p.V851I NM_020818 NP_065869 Q9P2D8 UNC79_HUMAN hypothetical protein LOC57578 1028 integral to membrane ovary(10)|skin(4)|large_intestine(3) 17 all_cancers(154;0.0354)|all_epithelial(191;0.216) Epithelial(152;0.188) TTCCCTGGCAGTCCCTCTTCT 0.483000 C15orf2 23742 broad.mit.edu 37 15 24921670 24921670 + Missense_Mutation SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr15:24921670A>T uc001ywo.2 + 1 1130 c.656A>T c.(655-657)AAC>ATC p.N219I NM_018958 NP_061831 Q9NZP6 CO002_HUMAN hypothetical protein LOC23742 219 cell differentiation|multicellular organismal development|spermatogenesis ovary(2)|large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 8 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) TTCTCAGAAAACAGCATGAGT 0.617000 CTDSPL2 51496 broad.mit.edu 37 15 44816331 44816331 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr15:44816331A>G uc001ztr.2 + 13 1776 c.1360A>G c.(1360-1362)AGA>GGA p.R454G CTDSPL2_uc001zts.2_Missense_Mutation_p.R454G|CTDSPL2_uc001ztt.2_Missense_Mutation_p.R454G|CTDSPL2_uc010bdv.2_Missense_Mutation_p.R382G NM_016396 NP_057480 Q05D32 CTSL2_HUMAN CTD (carboxy-terminal domain, RNA polymerase II, 454 phosphoprotein phosphatase activity 0 all_cancers(109;4.36e-14)|all_epithelial(112;9.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122) all cancers(107;1.02e-20)|GBM - Glioblastoma multiforme(94;1.49e-06)|COAD - Colon adenocarcinoma(120;0.0857)|Colorectal(105;0.0905) ACCACACATCAGAGACAGATT 0.388000 CYP11A1 1583 broad.mit.edu 37 15 74659825 74659825 + Silent SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr15:74659825A>G uc002axt.2 - 1 257 c.102T>C c.(100-102)ACT>ACC p.T34T CYP11A1_uc002axs.2_5'Flank|CYP11A1_uc010bjm.1_5'Flank|CYP11A1_uc010bjn.1_RNA|CYP11A1_uc010bjo.1_Silent_p.T34T|CYP11A1_uc010ulj.1_5'UTR|CYP11A1_uc010bjq.2_Silent_p.T34T NM_000781 NP_000772 P05108 CP11A_HUMAN cytochrome P450, family 11, subfamily A, 34 C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process mitochondrial matrix cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding ovary(2) 2 Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108) CTCCCTCGCCAGTGGGCACCC 0.632000 MEX3B 84206 broad.mit.edu 37 15 82335547 82335547 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr15:82335547G>A uc002bgq.1 - 2 1979 c.1664C>T c.(1663-1665)CCG>CTG p.P555L NM_032246 NP_115622 Q6ZN04 MEX3B_HUMAN mex-3 homolog B 555 RING-type. protein autophosphorylation cytoplasmic mRNA processing body|nucleus calcium ion binding|RNA binding|zinc ion binding breast(1)|kidney(1) 2 GTGGCAGACCGGGCACTCGGG 0.637000 RHCG 51458 broad.mit.edu 37 15 90023598 90023598 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr15:90023598G>A uc002bnz.2 - 4 588 c.564C>T c.(562-564)GGC>GGT p.G188G RHCG_uc002bny.2_5'Flank|RHCG_uc002boa.2_RNA|RHCG_uc010bnq.1_Silent_p.G72G NM_016321 NP_057405 Q9UBD6 RHCG_HUMAN Rh family, C glycoprotein 188 Helical; (Potential). amine transport|cellular ion homeostasis|epithelial cell differentiation|transepithelial ammonium transport apical plasma membrane|basolateral plasma membrane|cytoplasmic vesicle|integral to plasma membrane ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding kidney(1) 1 Lung NSC(78;0.0237)|all_lung(78;0.0478) CAAAGTAGGCGCCAAATGTGT 0.577000 IGF1R 3480 broad.mit.edu 37 15 99434708 99434708 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr15:99434708G>A uc002bul.2 + 3 845 c.795G>A c.(793-795)CCG>CCA p.P265P IGF1R_uc010urq.1_Silent_p.P265P|IGF1R_uc010bon.2_Silent_p.P265P NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 265 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) CTGCCTGCCCGCCCAACACCT 0.642000 ACSM2B 348158 broad.mit.edu 37 16 20576139 20576139 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr16:20576139A>C uc002dhj.3 - 3 239 c.29T>G c.(28-30)CTT>CGT p.L10R ACSM2B_uc002dhk.3_Missense_Mutation_p.L10R|ACSM2B_uc010bwf.1_Missense_Mutation_p.L10R NM_182617 NP_872423 Q68CK6 ACS2B_HUMAN acyl-CoA synthetase medium-chain family member 10 fatty acid metabolic process|xenobiotic metabolic process mitochondrial matrix ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding skin(3)|ovary(1)|central_nervous_system(1) 5 CAGGGTGCAAAGTCCCTGAAC 0.507000 PRSS36 146547 broad.mit.edu 37 16 31157137 31157137 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr16:31157137G>A uc002ebd.2 - 6 752 c.693C>T c.(691-693)TAC>TAT p.Y231Y PRSS36_uc010vff.1_Silent_p.Y6Y|PRSS36_uc010vfg.1_Silent_p.Y231Y|PRSS36_uc010vfh.1_Silent_p.Y231Y NM_173502 NP_775773 Q5K4E3 POLS2_HUMAN protease, serine, 36 precursor 231 Peptidase S1 1. proteolysis cytoplasm|proteinaceous extracellular matrix serine-type endopeptidase activity ovary(1) 1 GGCCCTCTGGGTAGCCAGCAC 0.602000 IRX5 10265 broad.mit.edu 37 16 54967389 54967389 + Silent SNP C C G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr16:54967389C>G uc002ehv.2 + 3 1056 c.1056C>G c.(1054-1056)GGC>GGG p.G352G IRX5_uc002ehw.2_Silent_p.G286G NM_005853 NP_005844 P78411 IRX5_HUMAN iroquois homeobox protein 5 352 Poly-Gly. response to stimulus|visual perception nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding 0 ACGGGGGCGGCGGGAACGAGG 0.731000 CNOT1 23019 broad.mit.edu 37 16 58612764 58612764 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr16:58612764A>C uc002env.2 - 13 1716 c.1423T>G c.(1423-1425)TTC>GTC p.F475V CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.F475V|CNOT1_uc002enx.2_Missense_Mutation_p.F475V|CNOT1_uc002enz.1_Intron NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 475 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) TTGATAGGGAAGCTGAAGAGC 0.458000 MTSS1L 92154 broad.mit.edu 37 16 70697994 70697994 + Silent SNP C C T rs144949231 TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr16:70697994C>T uc002ezj.2 - 15 2090 c.1830G>A c.(1828-1830)GCG>GCA p.A610A NM_138383 NP_612392 Q765P7 MTSSL_HUMAN metastasis suppressor 1-like 610 filopodium assembly|signal transduction actin binding|cytoskeletal adaptor activity|SH3 domain binding central_nervous_system(1) 1 CCTCACTGCCCGCCCGTGTGG 0.692000 BCMO1 53630 broad.mit.edu 37 16 81314536 81314536 + Silent SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr16:81314536A>G uc002fgn.1 + 8 1394 c.1176A>G c.(1174-1176)CAA>CAG p.Q392Q BCMO1_uc010vnp.1_Silent_p.Q323Q NM_017429 NP_059125 Q9HAY6 BCDO1_HUMAN beta-carotene 15,15'-monooxygenase 392 retinoid metabolic process|steroid metabolic process cytosol beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity 0 AAGATGGCCAAGTCTACTGCC 0.443000 ZC3H18 124245 broad.mit.edu 37 16 88691082 88691082 + Silent SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr16:88691082C>T uc002fky.2 + 12 2171 c.1971C>T c.(1969-1971)CCC>CCT p.P657P ZC3H18_uc010voz.1_Silent_p.P681P|ZC3H18_uc010chw.2_RNA|ZC3H18_uc002fkz.2_5'Flank NM_144604 NP_653205 Q86VM9 ZCH18_HUMAN zinc finger CCCH-type containing 18 657 Ser-rich. nucleus nucleic acid binding|zinc ion binding skin(1) 1 BRCA - Breast invasive adenocarcinoma(80;0.0542) CTCCTGTCCCCGAGCCCACCA 0.692000 PITPNM3 83394 broad.mit.edu 37 17 6374626 6374626 + Silent SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr17:6374626C>A uc002gdd.3 - 12 1630 c.1479G>T c.(1477-1479)CGG>CGT p.R493R PITPNM3_uc010cln.2_Silent_p.R457R|PITPNM3_uc010clm.2_5'UTR|PITPNM3_uc002gdc.3_Silent_p.R84R NM_031220 NP_112497 Q9BZ71 PITM3_HUMAN PITPNM family member 3 isoform 1 493 DDHD. phosphatidylinositol metabolic process endomembrane system|integral to membrane calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding ovary(2)|central_nervous_system(2) 4 Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185) GCGGGCTGTCCCGGGAGCTGC 0.662000 TP53 7157 broad.mit.edu 37 17 7577156 7577156 + Splice_Site SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr17:7577156C>T uc002gim.2 - 8 977 c.783_splice c.e8-1 p.S261_splice TP53_uc002gig.1_Intron|TP53_uc002gih.2_Splice_Site_p.S261_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Splice_Site_p.S129_splice|TP53_uc010cng.1_Splice_Site_p.S129_splice|TP53_uc002gii.1_Splice_Site_p.S129_splice|TP53_uc010cnh.1_Splice_Site_p.S261_splice|TP53_uc010cni.1_Splice_Site_p.S261_splice|TP53_uc002gij.2_Splice_Site_p.S261_splice NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 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.?(18)|p.0?(7)|p.E258fs*71(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) TAGATTACCACTACTCAGGAT 0.512000 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) JUP 3728 broad.mit.edu 37 17 39923791 39923791 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr17:39923791A>G uc002hxq.2 - 5 1026 c.749T>C c.(748-750)CTG>CCG p.L250P JUP_uc010wfs.1_Missense_Mutation_p.L250P|JUP_uc002hxr.2_Missense_Mutation_p.L250P|JUP_uc002hxs.2_Missense_Mutation_p.L250P NM_021991 NP_068831 P14923 PLAK_HUMAN junction plakoglobin 250 ARM 2. adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity ovary(2)|lung(2)|breast(1) 5 Breast(137;0.000162) BRCA - Breast invasive adenocarcinoma(4;0.233) BRCA - Breast invasive adenocarcinoma(366;0.15) CAGGTTGTGCAGCGTGGTGAT 0.627000 WNK4 65266 broad.mit.edu 37 17 40945635 40945635 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr17:40945635C>T uc002ibj.2 + 12 2204 c.2183C>T c.(2182-2184)TCG>TTG p.S728L WNK4_uc010wgx.1_Missense_Mutation_p.S392L|WNK4_uc002ibk.1_Missense_Mutation_p.S500L|WNK4_uc010wgy.1_Missense_Mutation_p.S72L NM_032387 NP_115763 Q96J92 WNK4_HUMAN WNK lysine deficient protein kinase 4 728 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity ovary(3)|skin(3)|stomach(1) 7 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) ATTCTGCCTTCGGAGCGAGAT 0.527000 XYLT2 64132 broad.mit.edu 37 17 48433527 48433527 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr17:48433527C>T uc002iqo.2 + 7 1496 c.1387C>T c.(1387-1389)CGC>TGC p.R463C XYLT2_uc010dbo.2_RNA NM_022167 NP_071450 Q9H1B5 XYLT2_HUMAN xylosyltransferase II 463 Lumenal (Potential). glycosaminoglycan biosynthetic process endoplasmic reticulum membrane|Golgi membrane|integral to membrane acetylglucosaminyltransferase activity|protein xylosyltransferase activity pancreas(1) 1 Breast(11;7.18e-19) CAACTGGAACCGCAAGCTGGG 0.597000 KIF2B 84643 broad.mit.edu 37 17 51901040 51901040 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr17:51901040G>A uc002iua.2 + 1 802 c.646G>A c.(646-648)GTC>ATC p.V216I uc010wna.1_RNA NM_032559 NP_115948 Q8N4N8 KIF2B_HUMAN kinesin family member 2B 216 Kinesin-motor. blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle ATP binding|microtubule motor activity ovary(5)|skin(3) 8 TCGCATCTGCGTCTGCGTGAG 0.547000 SCN4A 6329 broad.mit.edu 37 17 62026057 62026057 + Missense_Mutation SNP G G C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr17:62026057G>C uc002jds.1 - 16 3135 c.3058C>G c.(3058-3060)CTG>GTG p.L1020V NM_000334 NP_000325 P35499 SCN4A_HUMAN voltage-gated sodium channel type 4 alpha 1020 muscle contraction voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(1)|pancreas(1)|skin(1) 3 Lamotrigine(DB00555) GCCCTGCGCAGAGTCCACCAC 0.617000 MEX3C 51320 broad.mit.edu 37 18 48703728 48703728 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr18:48703728C>T uc002lfc.3 - 2 973 c.973G>A c.(973-975)GGT>AGT p.G325S NM_016626 NP_057710 Q5U5Q3 MEX3C_HUMAN ring finger and KH domain containing 2 325 cytoplasm|nucleus RNA binding|zinc ion binding lung(2)|ovary(1)|skin(1) 4 Colorectal(6;0.003)|all_epithelial(6;0.0473) Colorectal(16;0.0175)|READ - Rectum adenocarcinoma(32;0.15) GTGGTTTGACCGGGCAGATTA 0.498000 CD320 51293 broad.mit.edu 37 19 8369960 8369960 + Missense_Mutation SNP C C G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr19:8369960C>G uc002mjj.1 - 2 288 c.223G>C c.(223-225)GAC>CAC p.D75H CD320_uc002mjk.1_RNA|CD320_uc002mjl.1_Intron NM_016579 NP_057663 Q9NPF0 CD320_HUMAN 8D6 antigen isoform 1 precursor 75 Extracellular (Potential).|LDL-receptor class A 1. regulation of cell growth endoplasmic reticulum|integral to membrane growth factor activity 0 AAGTCCCTGTCGCAGCGCCAG 0.662000 KRI1 65095 broad.mit.edu 37 19 10665849 10665849 + Silent SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr19:10665849C>T uc002moy.1 - 18 1722 c.1713G>A c.(1711-1713)GAG>GAA p.E571E KRI1_uc002mow.1_Silent_p.E190E|KRI1_uc002mox.1_Silent_p.E567E NM_023008 NP_075384 Q8N9T8 KRI1_HUMAN KRI1 homolog 571 ovary(1) 1 Epithelial(33;9.2e-06)|all cancers(31;3.9e-05) CCCGCAGCTCCTCCTGCTCTG 0.527000 ZNF682 91120 broad.mit.edu 37 19 20117991 20117991 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr19:20117991C>T uc002noq.2 - 4 443 c.320G>A c.(319-321)GGA>GAA p.G107E ZNF682_uc002noo.2_Missense_Mutation_p.G75E|ZNF682_uc002nop.2_Missense_Mutation_p.G75E|ZNF682_uc010eck.2_Missense_Mutation_p.G31E NM_033196 NP_149973 O95780 ZN682_HUMAN zinc finger protein 682 isoform 1 107 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|pancreas(1) 2 ATCCTCAAGTCCACAGCTTCC 0.373000 ZNF345 25850 broad.mit.edu 37 19 37368345 37368345 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr19:37368345A>G uc002oex.2 + 3 991 c.613A>G c.(613-615)ATA>GTA p.I205V ZNF345_uc002oey.3_Missense_Mutation_p.I205V|ZNF345_uc002oez.2_Intron NM_003419 NP_003410 Q14585 ZN345_HUMAN zinc finger protein 345 205 C2H2-type 6. negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter nucleus DNA binding|zinc ion binding ovary(1) 1 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTATGAATGTATAGATTGTGG 0.423000 C19orf33 64073 broad.mit.edu 37 19 38795285 38795285 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr19:38795285G>A uc002ohu.1 + 3 258 c.160G>A c.(160-162)GAC>AAC p.D54N YIF1B_uc002ohw.2_3'UTR|YIF1B_uc002ohx.2_3'UTR|YIF1B_uc010xtx.1_3'UTR|YIF1B_uc010xty.1_3'UTR|YIF1B_uc002oia.2_3'UTR|YIF1B_uc002ohy.2_3'UTR|YIF1B_uc002ohz.2_3'UTR|C19orf33_uc002ohv.1_Silent_p.P73P NM_033520 NP_277055 Q9GZP8 IMUP_HUMAN HAI-2 related small protein 54 nucleus 0 all_cancers(60;1.07e-06) Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) CAGCTCTTCCGACTCCAGCAG 0.662000 RYR1 6261 broad.mit.edu 37 19 38991278 38991278 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr19:38991278G>A uc002oit.2 + 46 7486 c.7356G>A c.(7354-7356)CGG>CGA p.R2452R RYR1_uc002oiu.2_Silent_p.R2452R|RYR1_uc002oiv.1_5'UTR NM_000540 NP_000531 P21817 RYR1_HUMAN skeletal muscle ryanodine receptor isoform 1 2452 Cytoplasmic.|6 X approximate repeats. R -> W (in MHS1). muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1) 12 all_cancers(60;7.91e-06) Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272) Dantrolene(DB01219) AGGCCCTGCGGATCCGCGCCA 0.642000 PPP1R13L 10848 broad.mit.edu 37 19 45899878 45899878 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr19:45899878C>T uc002pbn.2 - 4 714 c.637G>A c.(637-639)GCG>ACG p.A213T PPP1R13L_uc002pbo.2_Missense_Mutation_p.A213T|PPP1R13L_uc002pbp.2_Missense_Mutation_p.A213T NM_006663 NP_006654 Q8WUF5 IASPP_HUMAN protein phosphatase 1, regulatory subunit 13 213 Pro-rich. apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus transcription corepressor activity|transcription factor binding skin(1) 1 all_neural(266;0.224)|Ovarian(192;0.231) OV - Ovarian serous cystadenocarcinoma(262;0.0182) GACGCTGGCGCGTCGTAGGCT 0.786000 CD33 945 broad.mit.edu 37 19 51728508 51728508 + Missense_Mutation SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr19:51728508A>T uc002pwa.2 + 2 112 c.72A>T c.(70-72)CAA>CAT p.Q24H CD33_uc010eos.1_Missense_Mutation_p.Q24H|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank NM_001772 NP_001763 P20138 CD33_HUMAN CD33 antigen isoform 1 precursor 24 Extracellular (Potential).|Ig-like V-type. cell adhesion|cell-cell signaling|negative regulation of cell proliferation external side of plasma membrane|integral to plasma membrane receptor activity|sugar binding 0 all_neural(266;0.0199) GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468) Gemtuzumab ozogamicin(DB00056) TCTGGCTGCAAGTGCAGGAGT 0.592000 ZNF528 84436 broad.mit.edu 37 19 52918410 52918410 + Missense_Mutation SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr19:52918410A>T uc002pzh.2 + 7 731 c.305A>T c.(304-306)AAC>ATC p.N102I ZNF528_uc002pzi.2_5'UTR NM_032423 NP_115799 Q3MIS6 ZN528_HUMAN zinc finger protein 528 102 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1)|skin(1) 2 GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817) AATGCAGGAAACAAGCCTTGT 0.373000 PRKCG 5582 broad.mit.edu 37 19 54407962 54407962 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr19:54407962C>T uc002qcq.1 + 16 2012 c.1730C>T c.(1729-1731)TCG>TTG p.S577L PRKCG_uc010yeg.1_Missense_Mutation_p.S577L|PRKCG_uc010yeh.1_Intron NM_002739 NP_002730 P05129 KPCG_HUMAN protein kinase C, gamma 577 Protein kinase. activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission cytosol ATP binding|protein kinase C activity|zinc ion binding lung(4)|ovary(2)|pancreas(2)|large_intestine(1) 9 all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218) GBM - Glioblastoma multiforme(134;0.0521) TACCCCAAGTCGCTTTCCCGG 0.562000 LILRB5 10990 broad.mit.edu 37 19 54755967 54755967 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr19:54755967C>T uc002qex.2 - 12 1687 c.1576G>A c.(1576-1578)GCT>ACT p.A526T LILRA6_uc002qew.1_Intron|LILRB5_uc010yer.1_Missense_Mutation_p.A518T|LILRB5_uc002qey.2_Missense_Mutation_p.A527T|LILRB5_uc002qez.2_Missense_Mutation_p.A427T|LILRB5_uc002qfa.1_3'UTR NM_006840 NP_006831 O75023 LIRB5_HUMAN leukocyte immunoglobulin-like receptor, 526 Cytoplasmic (Potential). cell surface receptor linked signaling pathway|defense response integral to membrane transmembrane receptor activity ovary(1)|pancreas(1) 2 all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) TTCACGGCAGCATCTGCTGGG 0.637000 ZFP28 140612 broad.mit.edu 37 19 57060356 57060356 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr19:57060356T>G uc002qnj.2 + 5 624 c.553T>G c.(553-555)TTA>GTA p.L185V ZFP28_uc002qni.2_Missense_Mutation_p.L185V|uc002qnk.1_Intron NM_020828 NP_065879 Q8NHY6 ZFP28_HUMAN zinc finger protein 28 185 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|Ovarian(87;0.243) GBM - Glioblastoma multiforme(193;0.0302) GATCAAGGAGTTACCTCTCAA 0.398000 ZNF211 10520 broad.mit.edu 37 19 58152621 58152621 + Missense_Mutation SNP T T A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr19:58152621T>A uc002qpq.2 + 3 947 c.767T>A c.(766-768)CTT>CAT p.L256H ZNF211_uc010yhb.1_Missense_Mutation_p.L260H|ZNF211_uc002qpp.2_Missense_Mutation_p.L269H|ZNF211_uc002qpr.2_Missense_Mutation_p.L320H|ZNF211_uc002qps.2_Missense_Mutation_p.L321H|ZNF211_uc002qpt.2_Missense_Mutation_p.L268H|ZNF211_uc010yhc.1_Missense_Mutation_p.L268H|ZNF211_uc010yhd.1_Missense_Mutation_p.L195H|ZNF211_uc010yhe.1_Missense_Mutation_p.L247H NM_198855 NP_942152 Q13398 ZN211_HUMAN zinc finger protein 211 isoform 2 256 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(2) 2 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) AGAGAAGGACTTTTTGAGTGC 0.428000 ZSCAN4 201516 broad.mit.edu 37 19 58189377 58189377 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr19:58189377A>C uc002qpu.2 + 4 1189 c.492A>C c.(490-492)CAA>CAC p.Q164H NM_152677 NP_689890 Q8NAM6 ZSCA4_HUMAN zinc finger and SCAN domain containing 4 164 telomere maintenance via telomere lengthening|viral reproduction nuclear chromosome, telomeric region DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026) TGAATGCCCAAACCACAAGAG 0.468000 TPO 7173 broad.mit.edu 37 2 1497732 1497732 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr2:1497732T>C uc002qww.2 + 11 2018 c.1927T>C c.(1927-1929)TTC>CTC p.F643L TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.F586L|TPO_uc002qwr.2_Missense_Mutation_p.F643L|TPO_uc002qwx.2_Missense_Mutation_p.F586L|TPO_uc010yio.1_Missense_Mutation_p.F470L|TPO_uc010yip.1_Missense_Mutation_p.F643L|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.2_RNA NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 643 Extracellular (Potential). cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process cell surface|cytoplasm|integral to plasma membrane calcium ion binding|heme binding|iodide peroxidase activity ovary(7)|pancreas(6)|skin(5)|lung(1)|kidney(1) 20 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627) all_cancers(51;0.0338) all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12) Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550) AGCTGAAAACTTCCTCCCCAG 0.582000 XDH 7498 broad.mit.edu 37 2 31572645 31572645 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr2:31572645T>G uc002rnv.1 - 26 2955 c.2876A>C c.(2875-2877)AAG>ACG p.K959T NM_000379 NP_000370 P47989 XDH_HUMAN xanthine dehydrogenase 959 purine nucleotide catabolic process|xanthine catabolic process cytosol|extracellular region|peroxisome 2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity skin(4)|breast(2)|ovary(1)|central_nervous_system(1) 8 Acute lymphoblastic leukemia(172;0.155) Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163) ACCCTCAAGCTTCTGGTTGAA 0.502000 BIRC6 57448 broad.mit.edu 37 2 32602775 32602775 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr2:32602775G>A uc010ezu.2 + 2 579 c.445G>A c.(445-447)GCT>ACT p.A149T NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 149 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) GTTAGACACTGCTCTGCAAAC 0.388000 BIRC6 57448 broad.mit.edu 37 2 32724719 32724719 + Silent SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr2:32724719C>T uc010ezu.2 + 46 8708 c.8574C>T c.(8572-8574)GCC>GCT p.A2858A NM_016252 NP_057336 Q9NR09 BIRC6_HUMAN baculoviral IAP repeat-containing 6 2858 anti-apoptosis|apoptosis intracellular acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding ovary(5)|skin(4)|lung(2)|central_nervous_system(1)|breast(1)|pancreas(1) 14 Acute lymphoblastic leukemia(172;0.155) CTATTTCTGCCGTGATAGAAT 0.443000 FSHR 2492 broad.mit.edu 37 2 49381499 49381499 + Missense_Mutation SNP G G T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr2:49381499G>T uc002rww.2 - 1 132 c.58C>A c.(58-60)CAT>AAT p.H20N FSHR_uc002rwx.2_Missense_Mutation_p.H20N|FSHR_uc010fbn.2_Missense_Mutation_p.H20N|FSHR_uc010fbo.1_RNA NM_000145 NP_000136 P23945 FSHR_HUMAN follicle stimulating hormone receptor isoform 1 20 LRRNT.|Extracellular (Potential). female gamete generation|male gonad development|spermatogenesis integral to membrane|plasma membrane follicle-stimulating hormone receptor activity|protein binding ovary(4)|lung(2)|central_nervous_system(1)|skin(1) 8 all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094) CAGATCCGATGATGACATCCT 0.498000 Gonadal_Dysgenesis_46_XX PROKR1 10887 broad.mit.edu 37 2 68882556 68882556 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr2:68882556A>G uc010yqj.1 + 2 1030 c.1030A>G c.(1030-1032)ACC>GCC p.T344A PROKR1_uc002ses.2_RNA NM_138964 NP_620414 Q8TCW9 PKR1_HUMAN G protein-coupled receptor 73 344 Cytoplasmic (Potential). integral to membrane|plasma membrane neuropeptide Y receptor activity ovary(1) 1 GTGCTTCGTGACCGTCAAGAA 0.507000 ST6GAL2 84620 broad.mit.edu 37 2 107459867 107459867 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr2:107459867G>A uc002tdq.2 - 2 686 c.567C>T c.(565-567)GGC>GGT p.G189G ST6GAL2_uc002tdr.2_Silent_p.G189G|ST6GAL2_uc002tds.3_Silent_p.G189G NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 189 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity pancreas(6)|ovary(4)|skin(1) 11 CGCCGTCGTCGCCCTCCTCCA 0.642000 LRP1B 53353 broad.mit.edu 37 2 141812802 141812802 + Missense_Mutation SNP G G C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr2:141812802G>C uc002tvj.1 - 10 2407 c.1435C>G c.(1435-1437)CCA>GCA p.P479A LRP1B_uc010fnl.1_Intron NM_018557 NP_061027 Q9NZR2 LRP1B_HUMAN low density lipoprotein-related protein 1B 479 Extracellular (Potential). 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) ATTCCATATGGATCGACTTCA 0.433000 TSP Lung(27;0.18) SCN3A 6328 broad.mit.edu 37 2 165986737 165986737 + Missense_Mutation SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr2:165986737C>A uc002ucx.2 - 17 3127 c.2635G>T c.(2635-2637)GTG>TTG p.V879L SCN3A_uc002ucy.2_Missense_Mutation_p.V830L|SCN3A_uc002ucz.2_Missense_Mutation_p.V830L|SCN3A_uc002uda.1_Missense_Mutation_p.V699L|SCN3A_uc002udb.1_Missense_Mutation_p.V699L NM_006922 NP_008853 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha 879 voltage-gated sodium channel complex voltage-gated sodium channel activity ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 Lamotrigine(DB00555) AGAGCCCCCACAGAATTGCCA 0.428000 WIPF1 7456 broad.mit.edu 37 2 175431818 175431818 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr2:175431818A>G uc002uiy.2 - 8 1768 c.1436T>C c.(1435-1437)CTG>CCG p.L479P uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.L479P|WIPF1_uc010fqt.1_Missense_Mutation_p.L479P|WIPF1_uc002uiz.2_Missense_Mutation_p.L479P|WIPF1_uc002ujb.1_Missense_Mutation_p.L479P NM_003387 NP_003378 O43516 WIPF1_HUMAN WAS/WASL interacting protein family, member 1 479 actin polymerization or depolymerization|protein complex assembly cytoplasmic membrane-bounded vesicle actin binding|profilin binding ovary(1)|skin(1) 2 GTTTCTTGCCAGTTTGCTGGG 0.468000 TTN 7273 broad.mit.edu 37 2 179407393 179407393 + Silent SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr2:179407393A>T uc010zfg.1 - 297 89708 c.89484T>A c.(89482-89484)ATT>ATA p.I29828I uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Silent_p.I23523I|TTN_uc010zfi.1_Silent_p.I23456I|TTN_uc010zfj.1_Silent_p.I23331I NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 30755 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) CCTTACCAAGAATGATAACTT 0.333000 ZDBF2 57683 broad.mit.edu 37 2 207174303 207174303 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr2:207174303A>G uc002vbp.2 + 5 5301 c.5051A>G c.(5050-5052)CAC>CGC p.H1684R NM_020923 NP_065974 Q9HCK1 ZDBF2_HUMAN zinc finger, DBF-type containing 2 1684 nucleic acid binding|zinc ion binding ovary(3) 3 CAGAAAGCTCACAAAGAAGCC 0.428000 RPE 6120 broad.mit.edu 37 2 210884513 210884513 + Nonstop_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr2:210884513T>C uc002vdn.2 + 6 690 c.685T>C c.(685-687)TGA>CGA p.*229R RPE_uc002vdm.2_3'UTR|RPE_uc002vdo.2_Nonstop_Mutation_p.*179R|RPE_uc010zjf.1_Nonstop_Mutation_p.*200R|RPE_uc002vdp.2_Nonstop_Mutation_p.*176R|RPE_uc010fup.2_Nonstop_Mutation_p.*161R|RPE_uc002vdq.2_Nonstop_Mutation_p.*179R|RPE_uc002vdr.2_Nonstop_Mutation_p.*144R NM_199229 NP_954699 Q96AT9 RPE_HUMAN ribulose-5-phosphate-3-epimerase isoform 1 229 pentose-phosphate shunt cytosol metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity 0 Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431) TCTTGATCGGTGAAACCATAA 0.423000 NINL 22981 broad.mit.edu 37 20 25478911 25478911 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr20:25478911C>T uc002wux.1 - 9 1178 c.1104G>A c.(1102-1104)ATG>ATA p.M368I NINL_uc010gdn.1_Missense_Mutation_p.M368I|NINL_uc010gdo.1_Missense_Mutation_p.M151I|NINL_uc010ztf.1_Missense_Mutation_p.M384I NM_025176 NP_079452 Q9Y2I6 NINL_HUMAN ninein-like 368 G2/M transition of mitotic cell cycle cytosol|microtubule|microtubule organizing center calcium ion binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 TGTCCACTGTCATGAGCTCGT 0.612000 DNMT3B 1789 broad.mit.edu 37 20 31388003 31388003 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr20:31388003G>A uc002wyc.2 + 17 2125 c.1804G>A c.(1804-1806)GTC>ATC p.V602I DNMT3B_uc010zty.1_RNA|DNMT3B_uc002wyd.2_Missense_Mutation_p.V582I|DNMT3B_uc002wye.2_Missense_Mutation_p.V582I|DNMT3B_uc010gee.2_RNA|DNMT3B_uc010gef.2_RNA|DNMT3B_uc010ztz.1_Missense_Mutation_p.V540I|DNMT3B_uc010zua.1_Missense_Mutation_p.V506I|DNMT3B_uc002wyf.2_Missense_Mutation_p.V594I|DNMT3B_uc002wyg.2_Missense_Mutation_p.V301I|DNMT3B_uc010geg.2_5'Flank|DNMT3B_uc010geh.2_5'Flank NM_006892 NP_008823 Q9UBC3 DNM3B_HUMAN DNA cytosine-5 methyltransferase 3 beta isoform 602 negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation metal ion binding|protein binding|transcription corepressor activity lung(3)|ovary(2) 5 AGGAAAGTACGTCGCTTCTGA 0.483000 KCNK15 60598 broad.mit.edu 37 20 43374604 43374604 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr20:43374604A>G uc002xmr.2 + 1 117 c.53A>G c.(52-54)TAC>TGC p.Y18C NM_022358 NP_071753 Q9H427 KCNKF_HUMAN potassium family, subfamily K, member 15 18 Helical; (Potential). integral to membrane potassium channel activity|voltage-gated ion channel activity 0 Myeloproliferative disorder(115;0.0122) ACCCTGTGTTACCTGCTGGTG 0.736000 TSHZ2 128553 broad.mit.edu 37 20 51870079 51870079 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr20:51870079A>C uc002xwo.2 + 2 1038 c.82A>C c.(82-84)AAA>CAA p.K28Q NM_173485 NP_775756 Q9NRE2 TSH2_HUMAN teashirt zinc finger homeobox 2 28 Potential. multicellular organismal development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(5)|haematopoietic_and_lymphoid_tissue(1) 6 STAD - Stomach adenocarcinoma(23;0.1) ggaggaaataaaagaagagga 0.378000 FTCD 10841 broad.mit.edu 37 21 47574136 47574136 + Silent SNP C C T rs143451664 TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr21:47574136C>T uc002zif.2 - 2 209 c.165G>A c.(163-165)CCG>CCA p.P55P FTCD_uc002zig.2_Silent_p.P55P|FTCD_uc002zih.2_Silent_p.P55P|FTCD_uc010gqf.2_Silent_p.P55P|FTCD_uc010gqg.1_5'UTR NM_006657 NP_006648 O95954 FTCD_HUMAN formiminotransferase cyclodeaminase 55 Formiminotransferase N-subdomain (By similarity). folic acid-containing compound metabolic process|histidine catabolic process centriole|cytosol|Golgi apparatus folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity pancreas(1)|skin(1) 2 Breast(49;0.214) Colorectal(79;0.235) L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116) CCACGCACTCCGGCGGCCCCA 0.657000 TTLL1 25809 broad.mit.edu 37 22 43442565 43442565 + Silent SNP C C T rs143499869 TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr22:43442565C>T uc003bdi.2 - 10 1234 c.993G>A c.(991-993)CCG>CCA p.P331P TTLL1_uc010gzh.2_Silent_p.P302P|TTLL1_uc003bdj.2_Silent_p.P217P|TTLL1_uc003bdh.2_Silent_p.P293P NM_012263 NP_036395 O95922 TTLL1_HUMAN tubulin tyrosine ligase-like family, member 1 331 TTL. protein polyglutamylation cytoplasm|microtubule ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity skin(1) 1 Ovarian(80;0.0694) BRCA - Breast invasive adenocarcinoma(115;0.00461) ACGTGAGAGACGGGGACGCAT 0.512000 FBLN2 2199 broad.mit.edu 37 3 13659633 13659633 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr3:13659633T>C uc011avb.1 + 6 1912 c.1787T>C c.(1786-1788)CTG>CCG p.L596P FBLN2_uc011auz.1_Missense_Mutation_p.L622P|FBLN2_uc011ava.1_Missense_Mutation_p.L596P|FBLN2_uc011avc.1_Missense_Mutation_p.L596P NM_001998 NP_001989 P98095 FBLN2_HUMAN fibulin 2 isoform b precursor 596 proteinaceous extracellular matrix calcium ion binding|extracellular matrix structural constituent ovary(1) 1 UCEC - Uterine corpus endometrioid carcinoma (1;0.00416) GAGGCCGAGCTGCCGAACAGC 0.602000 C3orf39 84892 broad.mit.edu 37 3 43122809 43122809 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr3:43122809T>C uc003cmq.1 - 2 256 c.115A>G c.(115-117)AGC>GGC p.S39G C3orf39_uc003cmr.1_Missense_Mutation_p.S39G NM_032806 NP_116195 Q8NAT1 AGO61_HUMAN glycosyltransferase precursor 39 extracellular region transferase activity, transferring glycosyl groups ovary(1)|skin(1) 2 KIRC - Kidney renal clear cell carcinoma(284;0.0571)|Kidney(284;0.0718) GCCTGTCGGCTGAGGGCCAGC 0.657000 GRM2 2912 broad.mit.edu 37 3 51747059 51747059 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr3:51747059C>T uc010hlv.2 + 3 1260 c.1021C>T c.(1021-1023)CGG>TGG p.R341W GRM2_uc003dbo.3_Intron|GRM2_uc010hlu.2_RNA NM_000839 NP_000830 Q14416 GRM2_HUMAN glutamate receptor, metabotropic 2 isoform a 341 Extracellular (Potential). synaptic transmission integral to plasma membrane lung(1) 1 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716) Acamprosate(DB00659)|Nicotine(DB00184) GAACAACAGCCGGAACCCCTG 0.617000 PXK 54899 broad.mit.edu 37 3 58382783 58382783 + Silent SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr3:58382783T>C uc003djz.1 + 10 939 c.840T>C c.(838-840)CAT>CAC p.H280H PXK_uc003djx.1_Silent_p.H280H|PXK_uc003djy.1_Silent_p.H263H|PXK_uc003dka.1_Silent_p.H280H|PXK_uc003dkb.1_Silent_p.H197H|PXK_uc003dkc.1_Silent_p.H263H|PXK_uc011bfe.1_Silent_p.H247H|PXK_uc010hnj.1_Silent_p.H247H|PXK_uc003dkd.1_Silent_p.H143H|PXK_uc010hnk.1_Silent_p.H54H NM_017771 NP_060241 Q7Z7A4 PXK_HUMAN PX domain containing serine/threonine kinase 280 Protein kinase. cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission centrosome|cytoplasm|nucleus|plasma membrane actin binding|ATP binding|phosphatidylinositol binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity ovary(1) 1 BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22) AGTTTCTTCATGACAAGGGAT 0.418000 ROBO1 6091 broad.mit.edu 37 3 79174627 79174627 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr3:79174627C>T uc003dqe.2 - 3 359 c.151G>A c.(151-153)GAC>AAC p.D51N NM_002941 NP_002932 Q9Y6N7 ROBO1_HUMAN roundabout 1 isoform a 51 Extracellular (Potential). activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway cell surface|cytoplasm|integral to plasma membrane axon guidance receptor activity|identical protein binding|LRR domain binding large_intestine(2) 2 Lung SC(41;0.0257)|Lung NSC(201;0.0439) LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274) AGCGAATTGTCATCGTTATCA 0.502000 IMPG2 50939 broad.mit.edu 37 3 100951810 100951810 + Silent SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr3:100951810A>G uc003duq.1 - 15 3251 c.3048T>C c.(3046-3048)TTT>TTC p.F1016F IMPG2_uc011bhe.1_Silent_p.F879F|IMPG2_uc010hpj.1_RNA NM_016247 NP_057331 Q9BZV3 IMPG2_HUMAN interphotoreceptor matrix proteoglycan 2 1016 Extracellular (Potential).|EGF-like 1. visual perception integral to membrane|proteinaceous extracellular matrix extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity ovary(2)|haematopoietic_and_lymphoid_tissue(1) 3 TACAGGCCTGAAACTTGCAAG 0.438000 FAM55C 91775 broad.mit.edu 37 3 101540654 101540654 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr3:101540654G>A uc003dvn.2 + 8 2173 c.1536G>A c.(1534-1536)ATG>ATA p.M512I FAM55C_uc010hpn.2_Missense_Mutation_p.M512I NM_145037 NP_659474 Q969Y0 FA55C_HUMAN hypothetical protein LOC91775 precursor 512 extracellular region ovary(1)|pancreas(1)|skin(1) 3 TTCGGAGGATGTTCTCAGGGG 0.537000 KIAA1407 57577 broad.mit.edu 37 3 113761657 113761657 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr3:113761657A>G uc003eax.2 - 4 455 c.308T>C c.(307-309)CTT>CCT p.L103P KIAA1407_uc011bin.1_RNA|KIAA1407_uc011bio.1_Missense_Mutation_p.L81P|KIAA1407_uc011bip.1_Missense_Mutation_p.L90P NM_020817 NP_065868 Q8NCU4 K1407_HUMAN hypothetical protein LOC57577 103 ovary(2) 2 TTCTTGCTTAAGTTTGGTGTC 0.368000 FSTL1 11167 broad.mit.edu 37 3 120115829 120115829 + Missense_Mutation SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr3:120115829C>A uc003eds.2 - 11 1072 c.897G>T c.(895-897)AAG>AAT p.K299N FSTL1_uc011bjh.1_Missense_Mutation_p.K264N|MIR198_hsa-mir-198|MI0000240_5'Flank NM_007085 NP_009016 Q12841 FSTL1_HUMAN follistatin-like 1 precursor 299 BMP signaling pathway extracellular space calcium ion binding|heparin binding central_nervous_system(1) 1 GBM - Glioblastoma multiforme(114;0.189) CTCTCTTGGTCTTTTCAGCTG 0.403000 HSPBAP1 79663 broad.mit.edu 37 3 122459454 122459454 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr3:122459454G>A uc003efu.1 - 8 1328 c.1205C>T c.(1204-1206)CCG>CTG p.P402L HSPBAP1_uc003eft.1_Missense_Mutation_p.P113L NM_024610 NP_078886 Q96EW2 HBAP1_HUMAN Hspb associated protein 1 402 cytoplasm ovary(1)|lung(1) 2 GBM - Glioblastoma multiforme(114;0.0531) TTCTGAAGGCGGTTCTTCGGA 0.493000 PLXND1 23129 broad.mit.edu 37 3 129277407 129277407 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr3:129277407C>T uc003emx.2 - 33 5409 c.5309G>A c.(5308-5310)CGG>CAG p.R1770Q PLXND1_uc003emw.2_5'UTR|PLXND1_uc011blb.1_Missense_Mutation_p.R439Q NM_015103 NP_055918 Q9Y4D7 PLXD1_HUMAN plexin D1 precursor 1770 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane large_intestine(1) 1 CACCCAGAACCGGAGAGGAAG 0.562000 COL6A6 131873 broad.mit.edu 37 3 130354547 130354547 + Missense_Mutation SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr3:130354547A>T uc010htl.2 + 27 5064 c.5033A>T c.(5032-5034)GAG>GTG p.E1678V COL6A6_uc003eni.3_5'UTR NM_001102608 NP_001096078 A6NMZ7 CO6A6_HUMAN collagen type VI alpha 6 precursor 1678 Triple-helical region. axon guidance|cell adhesion collagen ovary(6)|central_nervous_system(1)|pancreas(1) 8 ATTTAGGGTGAGATTGGGGAC 0.358000 DZIP1L 199221 broad.mit.edu 37 3 137822699 137822699 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr3:137822699T>G uc003erq.2 - 2 478 c.115A>C c.(115-117)AGC>CGC p.S39R DZIP1L_uc003err.1_Missense_Mutation_p.S39R NM_173543 NP_775814 Q8IYY4 DZI1L_HUMAN DAZ interacting protein 1-like 39 intracellular zinc ion binding ovary(1)|pancreas(1) 2 TCCAGGGTGCTAATGCGTCTC 0.592000 PAQR9 344838 broad.mit.edu 37 3 142681913 142681913 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr3:142681913G>A uc003evg.2 - 1 266 c.266C>T c.(265-267)ACG>ATG p.T89M PAQR9_uc003evf.1_5'Flank NM_198504 NP_940906 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 89 Helical; (Potential). integral to membrane receptor activity 0 GATGAAGTGCGTCCAGAAGTT 0.632000 USP13 8975 broad.mit.edu 37 3 179460107 179460107 + Missense_Mutation SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr3:179460107A>T uc003fkh.2 + 12 1584 c.1503A>T c.(1501-1503)TTA>TTT p.L501F USP13_uc003fkf.2_Missense_Mutation_p.L501F NM_003940 NP_003931 Q92995 UBP13_HUMAN ubiquitin thiolesterase 13 501 ubiquitin-dependent protein catabolic process cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding ovary(1) 1 all_cancers(143;7.79e-15)|Ovarian(172;0.0338)|Breast(254;0.148) OV - Ovarian serous cystadenocarcinoma(80;1e-25)|GBM - Glioblastoma multiforme(14;0.0169) TGATGCAGTTACCTGTGGCCA 0.488000 ANK2 287 broad.mit.edu 37 4 114294571 114294571 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr4:114294571G>A uc003ibe.3 + 45 11925 c.11825G>A c.(11824-11826)CGT>CAT p.R3942H ANK2_uc003ibd.3_Missense_Mutation_p.R1848H|ANK2_uc003ibf.3_Missense_Mutation_p.R1857H|ANK2_uc011cgc.1_Missense_Mutation_p.R1033H|ANK2_uc003ibg.3_Missense_Mutation_p.R872H|ANK2_uc003ibh.3_Missense_Mutation_p.R562H|ANK2_uc011cgd.1_Missense_Mutation_p.R1244H|ANK2_uc010imr.2_Missense_Mutation_p.R24H|ANK2_uc010ims.2_Missense_Mutation_p.R24H NM_001148 NP_001139 Q01484 ANK2_HUMAN ankyrin 2 isoform 1 3909 axon guidance|signal transduction apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere protein binding|protein binding central_nervous_system(7)|ovary(3)|large_intestine(2)|breast(1)|skin(1) 14 Ovarian(17;0.0448)|Hepatocellular(203;0.218) OV - Ovarian serous cystadenocarcinoma(123;4.92e-05) GTTATAAAGCGTGTTGTATTG 0.448000 C4orf31 79625 broad.mit.edu 37 4 121957572 121957572 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr4:121957572G>A uc003idq.1 - 4 2081 c.1554C>T c.(1552-1554)TTC>TTT p.F518F NM_024574 NP_078850 Q8TB73 CD031_HUMAN hypothetical protein LOC79625 precursor 518 Fibronectin type-III 2. 0 TTTGACTGTGGAAATATTTAC 0.408000 PDGFC 56034 broad.mit.edu 37 4 157771489 157771489 + Silent SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr4:157771489A>C uc003iph.1 - 2 689 c.198T>G c.(196-198)ACT>ACG p.T66T PDGFC_uc003ipi.1_5'UTR|PDGFC_uc011cis.1_Intron|PDGFC_uc011cir.1_5'UTR NM_016205 NP_057289 Q9NRA1 PDGFC_HUMAN platelet-derived growth factor C precursor 66 CUB. central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity ovary(1)|lung(1)|skin(1) 3 all_hematologic(180;0.24) Renal(120;0.0458) KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212) TTCTTGGATAAGTATGAGGAA 0.383000 ADCY2 108 broad.mit.edu 37 5 7706939 7706939 + Missense_Mutation SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr5:7706939C>A uc003jdz.1 + 8 1259 c.1192C>A c.(1192-1194)CTG>ATG p.L398M ADCY2_uc011cmo.1_Missense_Mutation_p.L218M NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 398 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CGTGATTGGTCTGCAGAAGTG 0.507000 CENPH 64946 broad.mit.edu 37 5 68498798 68498798 + Splice_Site SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr5:68498798G>A uc003jvp.2 + 7 574 c.487_splice c.e7+1 p.Q163_splice CENPH_uc010ixc.2_Splice_Site_p.Q144_splice NM_022909 NP_075060 Q9H3R5 CENPH_HUMAN centromere protein H cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase condensed chromosome kinetochore|cytosol|nucleoplasm kinetochore binding|protein binding large_intestine(1) 1 Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178) AAGAGATTGCGTATGTAGAAC 0.323000 VCAN 1462 broad.mit.edu 37 5 82816102 82816102 + Silent SNP T T A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr5:82816102T>A uc003kii.3 + 7 2333 c.1977T>A c.(1975-1977)TCT>TCA p.S659S VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.S659S|VCAN_uc003kik.3_Intron NM_004385 NP_004376 P13611 CSPG2_HUMAN versican isoform 1 precursor 659 GAG-alpha (glucosaminoglycan attachment domain). 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) TTCCTTATTCTGGTGATAAAA 0.348000 GPR98 84059 broad.mit.edu 37 5 90136635 90136635 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr5:90136635A>G uc003kju.2 + 78 16948 c.16852A>G c.(16852-16854)ACT>GCT p.T5618A GPR98_uc003kjt.2_Missense_Mutation_p.T3324A|GPR98_uc003kjw.2_Missense_Mutation_p.T1279A NM_032119 NP_115495 Q8WXG9 GPR98_HUMAN G protein-coupled receptor 98 precursor 5618 Extracellular (Potential). cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance cell surface|cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity ovary(11)|central_nervous_system(3)|pancreas(2) 16 all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192) OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20) TGCCAACATCACTCTTGTCTC 0.443000 RAPGEF6 51735 broad.mit.edu 37 5 130828379 130828379 + Nonsense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr5:130828379G>A uc003kvn.1 - 14 1833 c.1627C>T c.(1627-1629)CAA>TAA p.Q543* RAPGEF6_uc003kvp.1_Nonsense_Mutation_p.Q593*|RAPGEF6_uc003kvo.1_Nonsense_Mutation_p.Q543*|RAPGEF6_uc010jdi.1_Nonsense_Mutation_p.Q543*|RAPGEF6_uc010jdj.1_Nonsense_Mutation_p.Q543*|RAPGEF6_uc003kvq.2_Nonsense_Mutation_p.Q260*|RAPGEF6_uc003kvr.2_Nonsense_Mutation_p.Q543*|RAPGEF6_uc011cxe.1_RNA|RAPGEF6_uc010jdk.2_Nonsense_Mutation_p.Q543* NM_016340 NP_057424 Q8TEU7 RPGF6_HUMAN PDZ domain-containing guanine nucleotide 543 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) AGGCTGAATTGTAGAGGGGAC 0.473000 PCDHB9 56127 broad.mit.edu 37 5 140569226 140569226 + Missense_Mutation SNP G G T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr5:140569226G>T uc003liw.1 + 3 2335 c.2335G>T c.(2335-2337)GGT>TGT p.G779C PCDHB10_uc003lix.2_5'Flank NM_019119 NP_061992 Q9Y5E1 PCDB9_HUMAN protocadherin beta 9 precursor 779 Cytoplasmic (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding 0 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GCCCCATAGGGGTGGGAAAGA 0.443000 DOCK2 1794 broad.mit.edu 37 5 169423161 169423161 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr5:169423161A>C uc003maf.2 + 30 3145 c.3065A>C c.(3064-3066)GAG>GCG p.E1022A DOCK2_uc011der.1_RNA|DOCK2_uc010jjm.2_Missense_Mutation_p.E514A NM_004946 NP_004937 Q92608 DOCK2_HUMAN dedicator of cytokinesis 2 1022 Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding ovary(5)|pancreas(2) 7 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) ACGAACTTTGAGTTCCAGGTG 0.502000 TBC1D9B 23061 broad.mit.edu 37 5 179292354 179292354 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr5:179292354T>C uc003mlh.2 - 21 3009 c.2972A>G c.(2971-2973)AAG>AGG p.K991R TBC1D9B_uc003mli.2_Missense_Mutation_p.K974R|TBC1D9B_uc003mlj.2_Missense_Mutation_p.K973R|TBC1D9B_uc003mlf.2_Missense_Mutation_p.K65R|TBC1D9B_uc003mlg.2_Missense_Mutation_p.K150R|TBC1D9B_uc011dgv.1_Missense_Mutation_p.K150R NM_198868 NP_942568 Q66K14 TBC9B_HUMAN TBC1 domain family, member 9B (with GRAM domain) 991 integral to membrane|intracellular calcium ion binding|Rab GTPase activator activity breast(1)|skin(1) 2 all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243) all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) GCTGGTCCCCTTCTCCTCTGC 0.527000 SCAND3 114821 broad.mit.edu 37 6 28543668 28543668 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr6:28543668G>A uc003nlo.2 - 3 1432 c.814C>T c.(814-816)CGC>TGC p.R272C NM_052923 NP_443155 Q6R2W3 SCND3_HUMAN SCAN domain containing 3 272 Potential. DNA integration|viral reproduction nucleus DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity ovary(1) 1 CTAGCCAAGCGACGGTAGTCA 0.353000 RIMS1 22999 broad.mit.edu 37 6 72974729 72974729 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr6:72974729G>A uc003pga.2 + 20 3245 c.3168G>A c.(3166-3168)CAG>CAA p.Q1056Q RIMS1_uc011dyb.1_Intron|RIMS1_uc003pgc.2_Intron|RIMS1_uc010kaq.2_Intron|RIMS1_uc011dyc.1_Intron|RIMS1_uc010kar.2_Intron|RIMS1_uc011dyd.1_Intron|RIMS1_uc003pgf.2_Intron|RIMS1_uc003pgg.2_Intron|RIMS1_uc003pgi.2_Intron|RIMS1_uc003pgh.2_Intron|RIMS1_uc003pgd.2_Silent_p.Q273Q|RIMS1_uc003pge.2_Intron|RIMS1_uc011dye.1_Intron|RIMS1_uc011dyf.1_Intron|RIMS1_uc010kas.1_Intron NM_014989 NP_055804 Q86UR5 RIMS1_HUMAN regulating synaptic membrane exocytosis 1 1056 calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception cell junction|presynaptic membrane metal ion binding|Rab GTPase binding ovary(7)|pancreas(2)|breast(1) 10 all_epithelial(107;0.179)|all_hematologic(105;0.212) CTTTATTACAGAGCAGTTCTC 0.373000 KCNQ5 56479 broad.mit.edu 37 6 73904338 73904338 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr6:73904338C>T uc003pgk.2 + 14 2347 c.2000C>T c.(1999-2001)TCG>TTG p.S667L KCNQ5_uc011dyh.1_Missense_Mutation_p.S686L|KCNQ5_uc011dyi.1_Missense_Mutation_p.S677L|KCNQ5_uc010kat.2_Missense_Mutation_p.S658L|KCNQ5_uc011dyj.1_Missense_Mutation_p.S557L|KCNQ5_uc011dyk.1_Missense_Mutation_p.S417L NM_019842 NP_062816 Q9NR82 KCNQ5_HUMAN potassium voltage-gated channel, KQT-like 667 protein complex assembly|synaptic transmission voltage-gated potassium channel complex inward rectifier potassium channel activity ovary(4)|large_intestine(2)|skin(1) 7 all_epithelial(107;0.116)|Lung NSC(302;0.219) COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583) AAAGATCTTTCGGGTTCCGCA 0.502000 ASCC3 10973 broad.mit.edu 37 6 101103582 101103582 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr6:101103582G>A uc003pqk.2 - 17 3145 c.2816C>T c.(2815-2817)GCT>GTT p.A939V ASCC3_uc011eai.1_Missense_Mutation_p.A841V NM_006828 NP_006819 Q8N3C0 HELC1_HUMAN activating signal cointegrator 1 complex subunit 939 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|microtubule cytoskeleton ATP binding|ATP-dependent helicase activity|nucleic acid binding ovary(5)|skin(1) 6 all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199) TACCTGATAAGCCTTGTGACT 0.348000 REV3L 5980 broad.mit.edu 37 6 111696720 111696720 + Silent SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr6:111696720A>T uc003puy.3 - 13 3161 c.2838T>A c.(2836-2838)CCT>CCA p.P946P REV3L_uc003pux.3_Silent_p.P868P|REV3L_uc003puz.3_Silent_p.P868P NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 946 DNA-dependent DNA replication|translesion synthesis nucleus|zeta DNA polymerase complex DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding large_intestine(2)|ovary(2)|skin(2) 6 all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021) OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663) CCATGGGATGAGGTAGACTAA 0.358000 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage HSF2 3298 broad.mit.edu 37 6 122740353 122740353 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr6:122740353T>G uc003pyu.2 + 6 759 c.572T>G c.(571-573)CTT>CGT p.L191R HSF2_uc003pyt.3_Missense_Mutation_p.L191R|HSF2_uc003pyv.2_Missense_Mutation_p.L191R NM_004506 NP_004497 Q03933 HSF2_HUMAN heat shock transcription factor 2 isoform a 191 Hydrophobic repeat HR-A/B. response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) AATAACCAACTTGTGAGTTTA 0.274000 SYNE1 23345 broad.mit.edu 37 6 152551776 152551776 + Missense_Mutation SNP A A T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr6:152551776A>T uc010kiw.2 - 115 21703 c.21101T>A c.(21100-21102)CTG>CAG p.L7034Q SYNE1_uc010kiv.2_Missense_Mutation_p.L1558Q|SYNE1_uc003qos.3_Missense_Mutation_p.L1558Q|SYNE1_uc003qot.3_Missense_Mutation_p.L6963Q|SYNE1_uc003qou.3_Missense_Mutation_p.L7034Q NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN spectrin repeat containing, nuclear envelope 1 7034 Cytoplasmic (Potential).|Spectrin 22. cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex actin binding|lamin binding central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2) 45 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CCATGTTTTCAGACATTGTAC 0.353000 HNSCC(10;0.0054) SP8 221833 broad.mit.edu 37 7 20824641 20824641 + Silent SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr7:20824641C>T uc003suy.2 - 3 982 c.741G>A c.(739-741)CCG>CCA p.P247P SP8_uc003suz.2_Silent_p.P265P NM_198956 NP_945194 Q8IXZ3 SP8_HUMAN Sp8 transcription factor isoform 2 247 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding pancreas(1) 1 AGCCTCCGAGCGGCGAGTGCA 0.716000 NOD1 10392 broad.mit.edu 37 7 30491122 30491122 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr7:30491122G>A uc003tav.2 - 6 2434 c.1911C>T c.(1909-1911)CGC>CGT p.R637R NM_006092 NP_006083 Q9Y239 NOD1_HUMAN nucleotide-binding oligomerization domain 637 LRR 1. activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity ovary(1)|skin(1) 2 CGACCTGAACGCGGGGCAGGC 0.637000 PKD1L1 168507 broad.mit.edu 37 7 47894629 47894629 + Silent SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr7:47894629C>T uc003tny.1 - 30 4710 c.4710G>A c.(4708-4710)AGG>AGA p.R1570R NM_138295 NP_612152 Q8TDX9 PK1L1_HUMAN polycystin-1L1 1570 Extracellular (Potential).|REJ. cell-cell adhesion integral to membrane ovary(8)|upper_aerodigestive_tract(2)|breast(1) 11 TTTTATTTCTCCTATTATCCT 0.358000 PCLO 27445 broad.mit.edu 37 7 82545323 82545323 + Silent SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr7:82545323C>T uc003uhx.2 - 7 12268 c.11979G>A c.(11977-11979)ACG>ACA p.T3993T PCLO_uc003uhv.2_Silent_p.T3993T|PCLO_uc010lec.2_Silent_p.T958T NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3924 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 ATGTGTTATCCGTAGAAACAG 0.403000 PCLO 27445 broad.mit.edu 37 7 82584206 82584206 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr7:82584206A>C uc003uhx.2 - 5 6352 c.6063T>G c.(6061-6063)CAT>CAG p.H2021Q PCLO_uc003uhv.2_Missense_Mutation_p.H2021Q NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 1952 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 GCACAACAGAATGTAAGCTTT 0.378000 PTCD1 26024 broad.mit.edu 37 7 99027390 99027390 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr7:99027390T>C uc003uqh.2 - 4 765 c.634A>G c.(634-636)ACG>GCG p.T212A PTCD1_uc011kiw.1_Missense_Mutation_p.T261A NM_015545 NP_056360 O75127 PTCD1_HUMAN pentatricopeptide repeat domain 1 212 PPR 3. ovary(1) 1 all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166) STAD - Stomach adenocarcinoma(171;0.215) AACAGGGCCGTGTAGGTGGCG 0.617000 GIGYF1 64599 broad.mit.edu 37 7 100281681 100281681 + Silent SNP C C T rs138722511 byFrequency TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr7:100281681C>T uc003uwg.1 - 15 2839 c.1830G>A c.(1828-1830)ACG>ACA p.T610T NM_022574 NP_072096 O75420 PERQ1_HUMAN PERQ amino acid rich, with GYF domain 1 610 Gln-rich. large_intestine(1)|central_nervous_system(1) 2 Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817) GCAGGAATGCCGTGAGCTGCT 0.697000 OR2F1 26211 broad.mit.edu 37 7 143657492 143657492 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr7:143657492G>A uc003wds.1 + 1 473 c.429G>A c.(427-429)AGG>AGA p.R143R NM_012369 NP_036501 Q13607 OR2F1_HUMAN olfactory receptor, family 2, subfamily F, 143 Helical; Name=4; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(1) 3 Melanoma(164;0.0903) TGTGTGCTAGGTTGGCCATCA 0.527000 CSGALNACT1 55790 broad.mit.edu 37 8 19362744 19362744 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr8:19362744T>C uc011kyn.1 - 4 1666 c.602A>G c.(601-603)CAC>CGC p.H201R CSGALNACT1_uc011kyo.1_Missense_Mutation_p.H201R|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Missense_Mutation_p.H200R|CSGALNACT1_uc003wzh.2_RNA NM_001130518 NP_001123990 Q8TDX6 CGAT1_HUMAN chondroitin sulfate 201 Lumenal (Potential). anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process Golgi cisterna membrane|integral to Golgi membrane|soluble fraction glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity central_nervous_system(2)|ovary(1) 3 Colorectal(111;0.182) GTAAGGACGGTGATTGGGGCT 0.527000 ADRA1A 148 broad.mit.edu 37 8 26628025 26628025 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr8:26628025T>C uc003xfh.1 - 2 1478 c.1042A>G c.(1042-1044)AGA>GGA p.R348G ADRA1A_uc003xfc.1_Missense_Mutation_p.R348G|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.R348G|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.R348G NM_000680 NP_000671 P35348 ADA1A_HUMAN alpha-1A-adrenergic receptor isoform 1 348 Cytoplasmic (By similarity). activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) GACTGCTTTCTGCAGAGACAC 0.542000 GINS4 84296 broad.mit.edu 37 8 41399380 41399380 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr8:41399380A>C uc003xnx.2 + 7 747 c.537A>C c.(535-537)CAA>CAC p.Q179H GINS4_uc003xny.2_Missense_Mutation_p.Q179H NM_032336 NP_115712 Q9BRT9 SLD5_HUMAN GINS complex subunit 4 179 Important for GINS complex assembly. DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle cytoplasm|nucleoplasm skin(1) 1 Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147) GAGAACGACAAGAAAACATAC 0.488000 ARMC1 55156 broad.mit.edu 37 8 66525479 66525479 + Silent SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr8:66525479C>A uc003xvl.2 - 4 700 c.465G>T c.(463-465)ACG>ACT p.T155T ARMC1_uc011leo.1_Intron NM_018120 NP_060590 Q9NVT9 ARMC1_HUMAN armadillo repeat-containing protein 155 metal ion transport metal ion binding skin(1) 1 Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235) CAGACCTTACCGTATCATCAA 0.373000 DPY19L4 286148 broad.mit.edu 37 8 95793379 95793379 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr8:95793379T>C uc003ygx.2 + 16 1824 c.1700T>C c.(1699-1701)CTT>CCT p.L567P NM_181787 NP_861452 Q7Z388 D19L4_HUMAN dpy-19-like 4 567 integral to membrane ovary(2) 2 Breast(36;3.85e-06) ACAGTGGAACTTATGACCTGG 0.303000 ZNF623 9831 broad.mit.edu 37 8 144733376 144733376 + Missense_Mutation SNP A A G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr8:144733376A>G uc003yzd.2 + 1 1423 c.1334A>G c.(1333-1335)AAG>AGG p.K445R ZNF623_uc011lkp.1_Missense_Mutation_p.K405R|ZNF623_uc003yzc.2_Missense_Mutation_p.K405R NM_014789 NP_055604 O75123 ZN623_HUMAN zinc finger protein 623 isoform 1 445 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146) CAGAGCTCCAAGCTGCTTCTG 0.483000 PARP10 84875 broad.mit.edu 37 8 145058498 145058498 + Silent SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr8:145058498G>A uc003zal.3 - 6 1668 c.1560C>T c.(1558-1560)AGC>AGT p.S520S PARP10_uc003zak.3_Silent_p.S226S|PARP10_uc011lku.1_Silent_p.S532S|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Silent_p.S520S NM_032789 NP_116178 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 520 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1) 6 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GAAACCTGGCGCTGCCCGGGT 0.647000 PARP10 84875 broad.mit.edu 37 8 145059121 145059121 + Missense_Mutation SNP C C G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr8:145059121C>G uc003zal.3 - 5 1157 c.1049G>C c.(1048-1050)AGC>ACC p.S350T PARP10_uc003zak.3_Missense_Mutation_p.S56T|PARP10_uc011lku.1_Missense_Mutation_p.S362T|PARP10_uc011lkv.1_RNA|PARP10_uc003zam.2_Missense_Mutation_p.S350T|PARP10_uc010mfn.1_Missense_Mutation_p.S265T|PARP10_uc010mfo.1_3'UTR NM_032789 NP_116178 Q53GL7 PAR10_HUMAN poly (ADP-ribose) polymerase family, member 10 350 Golgi apparatus|nucleolus NAD+ ADP-ribosyltransferase activity|nucleotide binding ovary(2)|upper_aerodigestive_tract(1)|lung(1)|breast(1)|pancreas(1) 6 all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) GGGCATCGAGCTGACTTGCTC 0.627000 PPP1R16A 84988 broad.mit.edu 37 8 145722828 145722828 + Missense_Mutation SNP T T A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr8:145722828T>A uc003zdd.2 + 2 1164 c.251T>A c.(250-252)CTG>CAG p.L84Q uc003zde.1_Missense_Mutation_p.R96W|PPP1R16A_uc003zdf.2_Missense_Mutation_p.L84Q NM_032902 NP_116291 Q96I34 PP16A_HUMAN protein phosphatase 1, regulatory (inhibitor) 84 ANK 1. plasma membrane protein binding 0 all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055) CGAAATGACCTGGAAGAAGGT 0.662000 TPD52L3 89882 broad.mit.edu 37 9 6328606 6328606 + Missense_Mutation SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr9:6328606C>A uc003zjw.2 + 1 232 c.11C>A c.(10-12)GCC>GAC p.A4D TPD52L3_uc003zjv.2_Missense_Mutation_p.A4D|TPD52L3_uc003zjx.1_Missense_Mutation_p.A4D NM_033516 NP_277051 Q96J77 TPD55_HUMAN protein kinase NYD-SP25 isoform 1 4 protein binding 0 Acute lymphoblastic leukemia(23;0.158) GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1) ATGCCACATGCCAGGACAGAG 0.473000 ELAVL2 1993 broad.mit.edu 37 9 23762120 23762120 + Missense_Mutation SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr9:23762120T>C uc003zpu.2 - 2 388 c.113A>G c.(112-114)AAG>AGG p.K38R ELAVL2_uc003zps.2_Missense_Mutation_p.K38R|ELAVL2_uc003zpt.2_Missense_Mutation_p.K38R|ELAVL2_uc003zpv.2_Missense_Mutation_p.K38R|ELAVL2_uc003zpw.2_Missense_Mutation_p.K38R NM_004432 NP_004423 Q12926 ELAV2_HUMAN ELAV (embryonic lethal, abnormal vision, 38 regulation of transcription, DNA-dependent mRNA 3'-UTR binding|nucleotide binding|protein binding ovary(2)|central_nervous_system(1) 3 GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19) TAAGTTGGTCTTGCTGTCTTC 0.443000 C9orf84 158401 broad.mit.edu 37 9 114466182 114466182 + Missense_Mutation SNP T T G TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr9:114466182T>G uc004bfr.2 - 20 2889 c.2754A>C c.(2752-2754)GAA>GAC p.E918D C9orf84_uc011lwt.1_Intron|C9orf84_uc004bfq.2_Missense_Mutation_p.E879D|C9orf84_uc010mug.2_Missense_Mutation_p.E829D NM_173521 NP_775792 Q5VXU9 CI084_HUMAN hypothetical protein LOC158401 isoform 1 918 ovary(2) 2 TGGCAGTGTGTTCATCAATTG 0.318000 TLR4 7099 broad.mit.edu 37 9 120475601 120475601 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr9:120475601A>C uc004bjz.2 + 3 1486 c.1195A>C c.(1195-1197)ACC>CCC p.T399P TLR4_uc004bka.2_Missense_Mutation_p.T359P|TLR4_uc004bkb.2_Missense_Mutation_p.T199P NM_138554 NP_612564 O00206 TLR4_HUMAN toll-like receptor 4 precursor 399 Extracellular (Potential). activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm lipopolysaccharide receptor activity|transmembrane receptor activity lung(10)|ovary(4)|breast(1)|skin(1) 16 TTTTGGGACAACCAGCCTAAA 0.388000 OR1B1 347169 broad.mit.edu 37 9 125391418 125391418 + Missense_Mutation SNP G G T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr9:125391418G>T uc011lyz.1 - 1 397 c.397C>A c.(397-399)CAC>AAC p.H133N NM_001004450 NP_001004450 Q8NGR6 OR1B1_HUMAN olfactory receptor, family 1, subfamily B, 133 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity 0 AAAGCATAGTGCAGGGGGTCA 0.502000 CERCAM 51148 broad.mit.edu 37 9 131196429 131196429 + Missense_Mutation SNP C C T rs148628855 byFrequency TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr9:131196429C>T uc004buz.3 + 10 1650 c.1252C>T c.(1252-1254)CGC>TGC p.R418C CERCAM_uc004buy.1_Missense_Mutation_p.R340C|CERCAM_uc010mxz.2_Missense_Mutation_p.R340C|CERCAM_uc010mya.1_Missense_Mutation_p.R259C NM_016174 NP_057258 Q5T4B2 GT253_HUMAN cerebral endothelial cell adhesion molecule 1 418 cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process endoplasmic reticulum lumen|plasma membrane pancreas(1) 1 GGATGACGTGCGCTTTGAGAG 0.607000 COBRA1 25920 broad.mit.edu 37 9 140151447 140151447 + Nonsense_Mutation SNP G G T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr9:140151447G>T uc004cmm.3 + 4 741 c.538G>T c.(538-540)GAG>TAG p.E180* NM_015456 NP_056271 Q8WX92 NELFB_HUMAN cofactor of BRCA1 180 negative regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction cytoplasm|nucleoplasm protein binding 0 all_cancers(76;0.0926) STAD - Stomach adenocarcinoma(284;0.137) OV - Ovarian serous cystadenocarcinoma(145;9.42e-05)|Epithelial(140;0.000766) CTTCAGTACAGAGCTCTCTGT 0.617000 RAI2 10742 broad.mit.edu 37 X 17819536 17819536 + Missense_Mutation SNP C C T TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chrX:17819536C>T uc004cyf.2 - 3 1165 c.595G>A c.(595-597)GGG>AGG p.G199R RAI2_uc004cyg.2_Missense_Mutation_p.G199R|RAI2_uc010nfa.2_Missense_Mutation_p.G199R|RAI2_uc004cyh.3_Missense_Mutation_p.G199R|RAI2_uc011miy.1_Missense_Mutation_p.G149R NM_021785 NP_068557 Q9Y5P3 RAI2_HUMAN retinoic acid induced 2 199 embryo development ovary(1)|breast(1) 2 Hepatocellular(33;0.183) GGTGGGGGCCCGAGAGTGCCC 0.647000 MAGEB18 286514 broad.mit.edu 37 X 26157600 26157600 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chrX:26157600A>C uc004dbq.1 + 2 685 c.498A>C c.(496-498)GAA>GAC p.E166D NM_173699 NP_775970 Q96M61 MAGBI_HUMAN melanoma antigen family B, 18 166 MAGE. protein binding central_nervous_system(1) 1 ATTTGAAGGAAGTGGATCCCA 0.433000 IL1RAPL2 26280 broad.mit.edu 37 X 104728346 104728346 + Missense_Mutation SNP G G A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chrX:104728346G>A uc004elz.1 + 6 1495 c.739G>A c.(739-741)GAG>AAG p.E247K NM_017416 NP_059112 Q9NP60 IRPL2_HUMAN interleukin 1 receptor accessory protein-like 2 247 Ig-like C2-type 3.|Extracellular (Potential). central nervous system development|innate immune response integral to membrane interleukin-1, Type II, blocking receptor activity breast(2)|ovary(1) 3 GTTCCCCATGGAGAATCAGCC 0.408000 ODZ1 10178 broad.mit.edu 37 X 124028194 124028194 + Silent SNP T T C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chrX:124028194T>C uc004euj.2 - 3 550 c.486A>G c.(484-486)AAA>AAG p.K162K ODZ1_uc011muj.1_Silent_p.K162K|ODZ1_uc010nqy.2_Silent_p.K162K NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 162 Teneurin N-terminal.|Cytoplasmic (Potential). immune response|negative regulation of cell proliferation|nervous system development|signal transduction extracellular region heparin binding ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1) 23 CAGGAGAGAATTTGAAACCTG 0.393000 ACTRT1 139741 broad.mit.edu 37 X 127185978 127185978 + Missense_Mutation SNP A A C TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chrX:127185978A>C uc004eum.2 - 1 405 c.208T>G c.(208-210)TTG>GTG p.L70V NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN actin-related protein T1 70 cytoplasm|cytoskeleton ovary(2)|central_nervous_system(2)|skin(1) 5 GGGTAGTGCAAATGTAGGGCC 0.478000 FLNA 2316 broad.mit.edu 37 X 153587984 153587984 + Missense_Mutation SNP C C A TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chrX:153587984C>A uc004fkk.2 - 24 4259 c.4010G>T c.(4009-4011)GGC>GTC p.G1337V FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.G1337V NM_001110556 NP_001104026 P21333 FLNA_HUMAN filamin A, alpha isoform 2 1337 Filamin 11. actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering cell cortex|cytosol|extracellular region|nucleus|plasma membrane actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding breast(6) 6 all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176) CACGGGACTGCCGTCATAGGT 0.706000 CRHR1 1394 broad.mit.edu 37 17 43908305 43908308 + Splice_Site DEL AAGT AAGT - TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr17:43908304_43908307GAAGT>G uc010dap.3 + 9 1122 c.857_splice c.e9+1 p.K286_splice CRHR1_uc010wjx.2_Splice_Site_p.K82_splice|CRHR1_uc002ijp.3_Splice_Site_p.K156_splice|CRHR1_uc002ijm.3_Splice_Site_p.K257_splice|CRHR1_uc002ijn.3_Splice_Site_p.K217_splice|CRHR1_uc010dar.3_Splice_Site_p.K257_splice|CRHR1_uc010dao.3_Splice_Site_p.K156_splice|CRHR1_uc010daq.3_Splice_Site_p.K82_splice|CRHR1_uc021tyu.1_Splice_Site_p.K82_splice NM_001145146 NP_001138618 P34998 CRFR1_HUMAN Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA. 286 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) ACGACAATGAGAAGTAAGTCATCT 0.588 PRM3 58531 broad.mit.edu 37 16 11367275 11367277 + In_Frame_Del DEL CCT CCT - TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr16:11367275_11367277delCCT uc002dat.1 - 1 176_178 c.176_178delAGG c.(175-180)GAGGGG>GGG p.E59del C16orf75_uc002daq.1_Intron NM_021247 NP_067070 Q9NNZ6 PRM3_HUMAN protamine 3 59 Asp/Glu-rich (highly acidic). cell differentiation|chromosome condensation|multicellular organismal development|spermatogenesis nucleosome|nucleus DNA binding 0 tcctcttccccctcctcctcctc 0.468 CRHR1 1394 broad.mit.edu 37 17 43908305 43908308 + Splice_Site DEL AAGT AAGT - TCGA-BR-7723-01A-11D-2053-08 TCGA-BR-7723-10A-01D-2053-08 Untested Somatic Phase_I WXS none Illumina GAIIx d5946cac-08ce-4512-823d-6c2fa6e73150 daa716c5-0804-49e0-88e8-811cf079546d g.chr17:43908304_43908307GAAGT>G uc010dap.3 + 9 1122 c.857_splice c.e9+1 p.K286_splice CRHR1_uc010wjx.2_Splice_Site_p.K82_splice|CRHR1_uc002ijp.3_Splice_Site_p.K156_splice|CRHR1_uc002ijm.3_Splice_Site_p.K257_splice|CRHR1_uc002ijn.3_Splice_Site_p.K217_splice|CRHR1_uc010dar.3_Splice_Site_p.K257_splice|CRHR1_uc010dao.3_Splice_Site_p.K156_splice|CRHR1_uc010daq.3_Splice_Site_p.K82_splice|CRHR1_uc021tyu.1_Splice_Site_p.K82_splice NM_001145146 NP_001138618 P34998 CRFR1_HUMAN Homo sapiens corticotropin releasing hormone receptor 1 (CRHR1), transcript variant 1, mRNA. 286 female pregnancy|immune response|parturition integral to plasma membrane corticotrophin-releasing factor receptor activity|protein binding NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(15)|pancreas(1)|skin(1) 24 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.161) ACGACAATGAGAAGTAAGTCATCT 0.588