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 SLC45A1 50651 broad.mit.edu 37 1 8390936 8390936 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr1:8390936C>T uc001apb.2 + 4 1383 c.1383C>T c.(1381-1383)GAC>GAT p.D461D SLC45A1_uc001apc.2_Silent_p.D159D NM_001080397 NP_001073866 Q9Y2W3 S45A1_HUMAN DNB5 461 carbohydrate transport integral to membrane symporter activity central_nervous_system(2)|pancreas(1)|skin(1) 4 Ovarian(185;0.0661)|all_lung(157;0.127) all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649) CCATCCCGGACGCAGCCGGAG 0.607000 PRAMEF12 390999 broad.mit.edu 37 1 12837182 12837182 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr1:12837182G>A uc001aui.2 + 3 919 c.892G>A c.(892-894)GTA>ATA p.V298I NM_001080830 NP_001074299 O95522 PRA12_HUMAN PRAME family member 12 298 ovary(3) 3 Ovarian(185;0.249) Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731) UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649) GGAGACAGTCGTAATGACCGA 0.542000 ATP13A2 23400 broad.mit.edu 37 1 17323520 17323520 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr1:17323520C>T uc001baa.2 - 12 1380 c.1190G>A c.(1189-1191)CGC>CAC p.R397H ATP13A2_uc001bab.2_Missense_Mutation_p.R392H|ATP13A2_uc001bac.2_Missense_Mutation_p.R392H|ATP13A2_uc009vpa.1_Missense_Mutation_p.R110H|ATP13A2_uc001bad.1_Missense_Mutation_p.R110H NM_022089 NP_071372 Q9NQ11 AT132_HUMAN ATPase type 13A2 isoform 1 397 Cytoplasmic (Potential). ATP biosynthetic process|cation transport integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding skin(2)|ovary(1)|central_nervous_system(1) 4 Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646) UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182) CATACCTGTGCGGGTCACCAC 0.527000 COL11A1 1301 broad.mit.edu 37 1 103488310 103488310 + Silent SNP A A G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr1:103488310A>G uc001dul.2 - 8 1551 c.1233T>C c.(1231-1233)ATT>ATC p.I411I COL11A1_uc001duk.2_5'UTR|COL11A1_uc001dum.2_Silent_p.I423I|COL11A1_uc001dun.2_Silent_p.I372I|COL11A1_uc009weh.2_Intron NM_001854 NP_001845 P12107 COBA1_HUMAN alpha 1 type XI collagen isoform A 411 Nonhelical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging ovary(6)|breast(3)|upper_aerodigestive_tract(1)|central_nervous_system(1)|pancreas(1) 12 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) TTGTTTCTGTAATATCAGTTT 0.338000 MAN1A2 10905 broad.mit.edu 37 1 117963257 117963257 + Missense_Mutation SNP C C A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr1:117963257C>A uc001ehd.1 + 5 1562 c.841C>A c.(841-843)CTA>ATA p.L281I MAN1A2_uc009whg.1_Missense_Mutation_p.L71I NM_006699 NP_006690 O60476 MA1A2_HUMAN mannosidase, alpha, class 1A, member 2 281 Lumenal (Potential). N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity 0 Lung SC(450;0.225) all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05) Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243) AGCATATTACCTATCAGGAGA 0.363000 HSD3B2 3284 broad.mit.edu 37 1 119964589 119964589 + Silent SNP G G A rs114527791 by1000genomes TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr1:119964589G>A uc001ehs.2 + 3 1238 c.465G>A c.(463-465)CCG>CCA p.P155P HSD3B2_uc001eht.2_Silent_p.P155P|HSD3B2_uc001ehu.2_Intron NM_000198 NP_000189 P26439 3BHS2_HUMAN 3 beta-hydroxysteroid dehydrogenase 2 155 P -> L (in AH2; nonsalt-wasting form). androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane 3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity ovary(2) 2 all_neural(166;0.187) all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284) Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836) NADH(DB00157)|Trilostane(DB01108) CTCCATACCCGTACAGCAAAA 0.498000 FMO5 2330 broad.mit.edu 37 1 146696558 146696558 + Missense_Mutation SNP A A G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr1:146696558A>G uc001epi.2 - 2 453 c.64T>C c.(64-66)TGC>CGC p.C22R FMO5_uc001eph.3_Missense_Mutation_p.C22R|FMO5_uc001epj.2_Missense_Mutation_p.C22R|FMO5_uc001epk.3_Missense_Mutation_p.C22R NM_001461 NP_001452 P49326 FMO5_HUMAN flavin containing monooxygenase 5 isoform 1 22 integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding ovary(3) 3 all_hematologic(923;0.0487) TCTTCTACGCAGCACTTGATG 0.502000 ADAMTSL4 54507 broad.mit.edu 37 1 150532570 150532570 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr1:150532570C>T uc001eux.2 + 19 3359 c.3123C>T c.(3121-3123)CCC>CCT p.P1041P ADAMTSL4_uc009wlw.2_Silent_p.P1064P|ADAMTSL4_uc010pcg.1_Silent_p.P1002P|ADAMTSL4_uc009wlx.2_Silent_p.P204P NM_019032 NP_061905 Q6UY14 ATL4_HUMAN thrombospondin repeat containing 1 isoform 1 1041 PLAC. apoptosis|positive regulation of apoptosis metalloendopeptidase activity|protease binding ovary(1)|skin(1) 2 all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171) UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206) CACATTGCCCCCTGGTGGTAC 0.617000 OREG0013787 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FLG 2312 broad.mit.edu 37 1 152277422 152277422 + Nonsense_Mutation SNP T T A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr1:152277422T>A uc001ezu.1 - 3 9976 c.9940A>T c.(9940-9942)AGA>TGA p.R3314* NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 3314 Filaggrin 20.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CCTGAGTGTCTGGAGCTGTCT 0.562000 Ichthyosis FLG 2312 broad.mit.edu 37 1 152285533 152285533 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr1:152285533C>T uc001ezu.1 - 3 1865 c.1829G>A c.(1828-1830)GGG>GAG p.G610E uc001ezv.2_5'Flank NM_002016 NP_002007 P20930 FILA_HUMAN filaggrin 610 Filaggrin 3.|Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity ovary(9)|skin(4)|upper_aerodigestive_tract(3) 16 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TGTCCTGGGCCCCGATGATTG 0.572000 Ichthyosis DEDD 9191 broad.mit.edu 37 1 161092952 161092952 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr1:161092952G>A uc001fxz.2 - 5 666 c.493C>T c.(493-495)CGG>TGG p.R165W NIT1_uc001fxw.2_Intron|DEDD_uc009wty.2_Missense_Mutation_p.R165W|DEDD_uc001fya.2_Missense_Mutation_p.R165W|DEDD_uc001fyb.2_Missense_Mutation_p.R165W|DEDD_uc010pkb.1_Missense_Mutation_p.R122W|DEDD_uc001fyc.2_Missense_Mutation_p.R5W NM_001039712 NP_001034801 O75618 DEDD_HUMAN death effector domain-containing protein 165 apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent cytoplasm|nucleolus DNA binding|protein binding 0 all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093) BRCA - Breast invasive adenocarcinoma(70;0.00165) CGGGCTGGCCGCTTGCTACAC 0.547000 SLC9A11 284525 broad.mit.edu 37 1 173556830 173556830 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr1:173556830C>T uc001giz.2 - 5 920 c.497G>A c.(496-498)CGT>CAT p.R166H SLC9A11_uc010pmq.1_RNA NM_178527 NP_848622 Q5TAH2 S9A11_HUMAN solute carrier family 9, member 11 166 sodium ion transport integral to membrane ion channel activity|solute:hydrogen antiporter activity ovary(2) 2 ATTCACAGAACGAAGAGGATC 0.294000 SRGAP2 23380 broad.mit.edu 37 1 206566910 206566910 + Silent SNP C C G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr1:206566910C>G uc001hdy.2 + 4 783 c.450C>G c.(448-450)GCC>GCG p.A150A SRGAP2_uc009xbt.2_Silent_p.A74A|SRGAP2_uc010prt.1_Silent_p.A74A|SRGAP2_uc001hdx.2_Silent_p.A150A|SRGAP2_uc010pru.1_Silent_p.A74A|SRGAP2_uc010prv.1_Silent_p.A74A NM_015326 NP_056141 O75044 FNBP2_HUMAN SLIT-ROBO Rho GTPase activating protein 2 237 axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|protein binding 0 Breast(84;0.137) AGCGTCAAGCCAAGTACACGG 0.413000 CENPF 1063 broad.mit.edu 37 1 214819047 214819047 + Missense_Mutation SNP A A G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr1:214819047A>G uc001hkm.2 + 13 6308 c.6134A>G c.(6133-6135)CAG>CGG p.Q2045R NM_016343 NP_057427 P49454 CENPF_HUMAN centromere protein F 2141 Potential.|Interaction with NDE1 and NDEL1. cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding ovary(6)|central_nervous_system(4)|large_intestine(2)|skin(1) 13 all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833) AAGGACTCACAGGCACTGTCT 0.428000 ZNF124 7678 broad.mit.edu 37 1 247320073 247320073 + Missense_Mutation SNP T T A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr1:247320073T>A uc001ick.2 - 4 990 c.851A>T c.(850-852)CAT>CTT p.H284L ZNF124_uc001ici.2_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.H222L NM_003431 NP_003422 Q15973 ZN124_HUMAN zinc finger protein 124 284 C2H2-type 6. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1) 1 all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053) OV - Ovarian serous cystadenocarcinoma(106;0.00739) CTGTGCAATATGAGTTTTCTC 0.443000 OR2T1 26696 broad.mit.edu 37 1 248569964 248569964 + Missense_Mutation SNP G G T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr1:248569964G>T uc010pzm.1 + 1 669 c.669G>T c.(667-669)GAG>GAT p.E223D NM_030904 NP_112166 O43869 OR2T1_HUMAN olfactory receptor, family 2, subfamily T, 223 Extracellular (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) ATTCCCGGGAGATTAACCACT 0.507000 OSBPL5 114879 broad.mit.edu 37 11 3115056 3115056 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr11:3115056C>T uc001lxk.2 - 16 1887 c.1729G>A c.(1729-1731)GGG>AGG p.G577R OSBPL5_uc010qxq.1_Missense_Mutation_p.G488R|OSBPL5_uc009ydw.2_Missense_Mutation_p.G509R|OSBPL5_uc001lxl.2_Missense_Mutation_p.G509R|OSBPL5_uc009ydx.2_Missense_Mutation_p.G601R|OSBPL5_uc001lxj.2_Missense_Mutation_p.G31R NM_020896 NP_065947 Q9H0X9 OSBL5_HUMAN oxysterol-binding protein-like protein 5 isoform 577 cholesterol metabolic process|cholesterol transport|Golgi to plasma membrane transport cytosol oxysterol binding|protein binding large_intestine(2)|central_nervous_system(1) 3 all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681) BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207) GTGCTACCCCCGAAGAAGGGC 0.627000 OR4A47 403253 broad.mit.edu 37 11 48510483 48510483 + Missense_Mutation SNP G G A rs142333570 byFrequency TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr11:48510483G>A uc010rhx.1 + 1 139 c.139G>A c.(139-141)GTA>ATA p.V47I NM_001005512 NP_001005512 Q6IF82 O4A47_HUMAN olfactory receptor, family 4, subfamily A, 47 Helical; Name=1; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1)|skin(1) 2 TGTAGTGACCGTAACTGTCAG 0.418000 OR5M3 219482 broad.mit.edu 37 11 56237295 56237295 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr11:56237295G>A uc010rjk.1 - 1 679 c.679C>T c.(679-681)CGC>TGC p.R227C NM_001004742 NP_001004742 Q8NGP4 OR5M3_HUMAN olfactory receptor, family 5, subfamily M, 227 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2) 2 Esophageal squamous(21;0.00448) TCTGCTGAGCGCATTCGCAGA 0.418000 DSCAML1 57453 broad.mit.edu 37 11 117651260 117651260 + Silent SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr11:117651260G>A uc001prh.1 - 2 494 c.492C>T c.(490-492)ACC>ACT p.T164T DSCAML1_uc001pri.1_5'UTR NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 104 Extracellular (Potential).|Ig-like C2-type 1. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) CGTTCTCCGCGGTGCAGAAGT 0.622000 CACNA1C 775 broad.mit.edu 37 12 2788847 2788847 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr12:2788847C>T uc009zdu.1 + 44 5786 c.5473C>T c.(5473-5475)CGC>TGC p.R1825C CACNA1C_uc009zdv.1_Missense_Mutation_p.R1774C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1777C|CACNA1C_uc001qkc.2_Missense_Mutation_p.R1796C|CACNA1C_uc001qke.2_Missense_Mutation_p.R1766C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1785C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1777C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1796C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1783C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1818C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1785C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1825C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1777C|CACNA1C_uc001qko.2_Missense_Mutation_p.R1797C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1777C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1794C|CACNA1C_uc001qku.2_Missense_Mutation_p.R1777C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1805C|CACNA1C_uc001qks.2_Missense_Mutation_p.R1777C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1796C|CACNA1C_uc001qki.1_Missense_Mutation_p.R1513C|CACNA1C_uc001qkj.1_Missense_Mutation_p.R1513C|CACNA1C_uc001qkk.1_Missense_Mutation_p.R1513C|CACNA1C_uc001qkm.1_Missense_Mutation_p.R1502C|CACNA1C_uc010sea.1_Missense_Mutation_p.R468C|uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.R95C NM_199460 NP_955630 Q13936 CAC1C_HUMAN calcium channel, voltage-dependent, L type, 1825 Cytoplasmic (Potential). axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion cytoplasm|postsynaptic density|voltage-gated calcium channel complex calmodulin binding|voltage-gated calcium channel activity ovary(10)|central_nervous_system(1) 11 OV - Ovarian serous cystadenocarcinoma(31;0.00256) LUAD - Lung adenocarcinoma(1;0.134) Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661) CGCCCTGGGTCGCCTCCCTCG 0.677000 ACRBP 84519 broad.mit.edu 37 12 6748124 6748124 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr12:6748124C>T uc001qpu.1 - 9 1553 c.1505G>A c.(1504-1506)CGG>CAG p.R502Q LPAR5_uc001qps.2_5'Flank|LPAR5_uc010sff.1_5'UTR|ACRBP_uc001qpt.1_5'Flank|ACRBP_uc010sfg.1_Missense_Mutation_p.R469Q NM_032489 NP_115878 Q8NEB7 ACRBP_HUMAN proacrosin binding protein sp32 precursor 502 acrosomal vesicle|extracellular region central_nervous_system(1) 1 GCTCACCTTCCGATTGCGGTT 0.532000 CDCA3 83461 broad.mit.edu 37 12 6958779 6958779 + Missense_Mutation SNP C C G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr12:6958779C>G uc001qrg.2 - 4 622 c.494G>C c.(493-495)AGC>ACC p.S165T CDCA3_uc001qre.2_Missense_Mutation_p.S165T|uc001qrf.1_5'Flank|USP5_uc001qri.3_5'Flank|USP5_uc001qrh.3_5'Flank NM_031299 NP_112589 Q99618 CDCA3_HUMAN cell division cycle associated 3 165 cell division|mitosis cytosol 0 GGAGCTCTGGCTGGCCACAGG 0.512000 ABCC9 10060 broad.mit.edu 37 12 22001093 22001093 + Missense_Mutation SNP C C T rs143685061 TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr12:22001093C>T uc001rfi.1 - 23 2877 c.2857G>A c.(2857-2859)GAA>AAA p.E953K ABCC9_uc001rfh.2_Missense_Mutation_p.E953K|ABCC9_uc001rfj.1_Missense_Mutation_p.E917K NM_005691 NP_005682 O60706 ABCC9_HUMAN ATP-binding cassette, sub-family C, member 9 953 Cytoplasmic (Potential). defense response to virus|potassium ion import ATP-sensitive potassium channel complex ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity ovary(4)|skin(2) 6 Adenosine triphosphate(DB00171)|Glibenclamide(DB01016) CCTTCGTCTTCGTCCTCCATC 0.418000 C12orf40 283461 broad.mit.edu 37 12 40114807 40114807 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr12:40114807C>T uc001rmc.2 + 13 1880 c.1713C>T c.(1711-1713)TGC>TGT p.C571C C12orf40_uc009zjv.1_Intron NM_001031748 NP_001026918 Q86WS4 CL040_HUMAN hypothetical protein LOC283461 571 p.C571G(1) ovary(6) 6 AGTTGCAGTGCAATTCAGCCC 0.388000 CNTN1 1272 broad.mit.edu 37 12 41387064 41387064 + Silent SNP C C T rs147943881 TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr12:41387064C>T uc001rmm.1 + 17 2219 c.2106C>T c.(2104-2106)GAC>GAT p.D702D CNTN1_uc001rmn.1_Silent_p.D691D NM_001843 NP_001834 Q12860 CNTN1_HUMAN contactin 1 isoform 1 precursor 702 axon guidance|cell adhesion|Notch signaling pathway anchored to membrane|membrane fraction|plasma membrane lung(4)|ovary(3)|large_intestine(1)|skin(1) 9 all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716) Lung NSC(34;0.0211)|all_lung(34;0.0294) TTAAAACAGACGGTGCTGGTA 0.368000 TMTC2 160335 broad.mit.edu 37 12 83251144 83251144 + Missense_Mutation SNP T T G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr12:83251144T>G uc001szt.2 + 2 871 c.439T>G c.(439-441)TTC>GTC p.F147V TMTC2_uc001szr.1_Missense_Mutation_p.F147V|TMTC2_uc001szs.1_Missense_Mutation_p.F147V|TMTC2_uc010suk.1_Intron NM_152588 NP_689801 Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat 147 Helical; (Potential). endoplasmic reticulum|integral to membrane binding ovary(2) 2 GGCCAGTCTCTTCTTTCTCCT 0.552000 DNAH10 196385 broad.mit.edu 37 12 124416550 124416550 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr12:124416550C>T uc001uft.3 + 75 12862 c.12837C>T c.(12835-12837)ATC>ATT p.I4279I DNAH10_uc001ufu.3_Silent_p.I192I NM_207437 NP_997320 Q8IVF4 DYH10_HUMAN dynein, axonemal, heavy chain 10 4279 microtubule-based movement cilium axoneme|cytoplasm|dynein complex|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(3)|skin(2)|central_nervous_system(1) 6 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346) CTCTTTTTATCGGGCATATCC 0.478000 NUPL1 9818 broad.mit.edu 37 13 25883397 25883397 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr13:25883397C>T uc001uqi.2 + 3 509 c.263C>T c.(262-264)ACT>ATT p.T88I NUPL1_uc001uqg.1_Missense_Mutation_p.T88I|NUPL1_uc001uqj.2_Intron NM_014089 NP_054808 Q9BVL2 NUPL1_HUMAN nucleoporin like 1 isoform a 88 14 X 2 AA repeats of F-G. carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction nuclear membrane|nuclear pore 0 Lung SC(185;0.0225)|Breast(139;0.0351) all cancers(112;0.0092)|Epithelial(112;0.0477)|OV - Ovarian serous cystadenocarcinoma(117;0.165)|GBM - Glioblastoma multiforme(144;0.244) ATAGCAACAACTATAACTACA 0.318000 TUBGCP3 10426 broad.mit.edu 37 13 113212621 113212621 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr13:113212621C>T uc001vse.1 - 5 624 c.437G>A c.(436-438)CGG>CAG p.R146Q TUBGCP3_uc010tjq.1_Missense_Mutation_p.R136Q|TUBGCP3_uc001vsf.2_Missense_Mutation_p.R146Q|TUBGCP3_uc001vsg.1_Missense_Mutation_p.R146Q NM_006322 NP_006313 Q96CW5 GCP3_HUMAN tubulin, gamma complex associated protein 3 146 G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization centriole|cytosol|polar microtubule gamma-tubulin binding|structural constituent of cytoskeleton central_nervous_system(1) 1 all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163) CTGGGCACTCCGATCTTGGTA 0.602000 MAPK1IP1L 93487 broad.mit.edu 37 14 55529793 55529793 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr14:55529793G>A uc001xbq.1 + 3 640 c.476G>A c.(475-477)GGG>GAG p.G159E NM_144578 NP_653179 Q8NDC0 MISSL_HUMAN MAPK-interacting and spindle-stabilizing 159 Pro-rich. 0 GGAATGGGAGGGCAGTATCCT 0.597000 PLD4 122618 broad.mit.edu 37 14 105398406 105398406 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr14:105398406C>T uc001ypu.1 + 9 1257 c.1116C>T c.(1114-1116)CGC>CGT p.R372R PLD4_uc010tyl.1_Silent_p.R379R NM_138790 NP_620145 Q96BZ4 PLD4_HUMAN phospholipase D4 372 lipid catabolic process integral to membrane NAPE-specific phospholipase D activity|phospholipase D activity central_nervous_system(1)|skin(1) 2 all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183) all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116) Choline(DB00122) AGGGCGTGCGCGTGCGCCTGC 0.711000 ATP10A 57194 broad.mit.edu 37 15 25928567 25928567 + Missense_Mutation SNP G G T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr15:25928567G>T uc010ayu.2 - 17 3464 c.3358C>A c.(3358-3360)CAG>AAG p.Q1120K NM_024490 NP_077816 O60312 AT10A_HUMAN ATPase, class V, type 10A 1120 Helical; (Potential). ATP biosynthetic process|regulation of cell shape integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity pancreas(2)|ovary(1)|breast(1)|liver(1) 5 all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125) all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244) AGATACCACTGGTCAATCATG 0.498000 CSPG4 1464 broad.mit.edu 37 15 75968312 75968312 + Missense_Mutation SNP C C T rs149670354 TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr15:75968312C>T uc002baw.2 - 10 6641 c.6548G>A c.(6547-6549)CGG>CAG p.R2183Q NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 2183 Extracellular (Potential).|Cysteine-containing.|Neurite growth inhibition (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 TGCTTCCGTCCGGGCGGCCTC 0.697000 HBQ1 3049 broad.mit.edu 37 16 231013 231013 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr16:231013G>A uc002cfz.2 + 3 486 c.335G>A c.(334-336)CGG>CAG p.R112Q NM_005331 NP_005322 P09105 HBAT_HUMAN theta 1 globin 112 hemoglobin complex heme binding|oxygen binding|oxygen transporter activity 0 all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306) ACCCTCGCCCGGCACTACCCC 0.701000 ACSM3 6296 broad.mit.edu 37 16 20793081 20793081 + Nonsense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr16:20793081C>T uc002dhr.2 + 7 1178 c.991C>T c.(991-993)CGA>TGA p.R331* ACSM3_uc002dhq.2_Nonsense_Mutation_p.R331*|ACSM3_uc010vba.1_Nonsense_Mutation_p.R360*|ERI2_uc002dhs.2_Intron NM_005622 NP_005613 Q53FZ2 ACSM3_HUMAN SA hypertension-associated homolog isoform 1 331 regulation of blood pressure mitochondrial matrix ATP binding|butyrate-CoA ligase activity|metal ion binding ovary(1) 1 AACTGTATACCGAATGCTTGT 0.378000 MYST1 84148 broad.mit.edu 37 16 31131779 31131779 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr16:31131779C>T uc002eay.2 + 3 424 c.406C>T c.(406-408)CGC>TGC p.R136C MYST1_uc002eax.2_Missense_Mutation_p.R136C NM_032188 NP_115564 Q9H7Z6 MYST1_HUMAN MYST histone acetyltransferase 1 isoform 1 136 histone H4-K16 acetylation|myeloid cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent MLL1 complex|MSL complex histone acetyltransferase activity|metal ion binding|methylated histone residue binding|transcription factor binding ovary(1) 1 GCAGCCTGAGCGCAAGATCAC 0.567000 ABCC11 85320 broad.mit.edu 37 16 48247385 48247385 + Missense_Mutation SNP G G A rs148839428 TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr16:48247385G>A uc002eff.1 - 9 1675 c.1325C>T c.(1324-1326)ACG>ATG p.T442M ABCC11_uc002efg.1_Missense_Mutation_p.T442M|ABCC11_uc002efh.1_Missense_Mutation_p.T442M|ABCC11_uc010vgk.1_RNA NM_033151 NP_149163 Q96J66 ABCCB_HUMAN ATP-binding cassette, sub-family C, member 11 442 Cytoplasmic (Potential).|ABC transmembrane type-1 1. integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of substances ovary(3)|skin(2)|central_nervous_system(1) 6 all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166) CTTGGAATTCGTGAGACCTTT 0.552000 Cerumen_Type NEURL4 84461 broad.mit.edu 37 17 7231011 7231011 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr17:7231011C>T uc002gga.1 - 2 482 c.475G>A c.(475-477)GTG>ATG p.V159M NEURL4_uc002ggb.1_Missense_Mutation_p.V159M|NEURL4_uc002ggc.1_5'Flank NM_032442 NP_115818 Q96JN8 NEUL4_HUMAN neuralized homolog 4 isoform 1 159 NHR 1. protein binding upper_aerodigestive_tract(1)|ovary(1) 2 TCCACGCCCACGCGGTCCCCT 0.657000 TP53 7157 broad.mit.edu 37 17 7578479 7578479 + Missense_Mutation SNP G G T rs28934874 TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr17:7578479G>T uc002gim.2 - 5 645 c.451C>A c.(451-453)CCC>ACC p.P151T TP53_uc002gig.1_Missense_Mutation_p.P151T|TP53_uc002gih.2_Missense_Mutation_p.P151T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.P19T|TP53_uc010cng.1_Missense_Mutation_p.P19T|TP53_uc002gii.1_Missense_Mutation_p.P19T|TP53_uc010cnh.1_Missense_Mutation_p.P151T|TP53_uc010cni.1_Missense_Mutation_p.P151T|TP53_uc002gij.2_Missense_Mutation_p.P151T|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.P58T|TP53_uc002gio.2_Missense_Mutation_p.P19T|TP53_uc010vug.1_Missense_Mutation_p.P112T NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 151 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). P -> R (in sporadic cancers; somatic mutation).|P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.P151S(61)|p.P151H(25)|p.P151T(13)|p.P151P(12)|p.P151A(10)|p.P152fs*18(9)|p.0?(7)|p.P151fs*30(7)|p.P151L(6)|p.P151R(6)|p.T150fs*16(3)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P58A(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.P19A(1)|p.P152fs*14(1)|p.T150_P151delTP(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) CCGGGCGGGGGTGTGGAATCA 0.612000 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) ULK2 9706 broad.mit.edu 37 17 19689396 19689396 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr17:19689396G>A uc002gwm.3 - 21 2614 c.2105C>T c.(2104-2106)CCG>CTG p.P702L ULK2_uc002gwn.2_Missense_Mutation_p.P702L NM_001142610 NP_001136082 Q8IYT8 ULK2_HUMAN unc-51-like kinase 2 702 signal transduction ATP binding|protein binding|protein serine/threonine kinase activity skin(2)|large_intestine(1)|stomach(1) 4 all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186) GGCTCCTGCCGGAGCTACAAC 0.498000 TAOK1 57551 broad.mit.edu 37 17 27844528 27844528 + Nonsense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr17:27844528C>T uc002hdz.1 + 16 1956 c.1762C>T c.(1762-1764)CAG>TAG p.Q588* TAOK1_uc010wbe.1_Intron|TAOK1_uc010wbf.1_Nonsense_Mutation_p.Q588* NM_020791 NP_065842 Q7L7X3 TAOK1_HUMAN TAO kinase 1 588 Potential. mitotic prometaphase cytosol|intracellular membrane-bounded organelle ATP binding|protein serine/threonine kinase activity upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1)|skin(1) 4 Colorectal(6;0.198) GCTTTCAAAGCAGAAGGAGAA 0.388000 ADAP2 55803 broad.mit.edu 37 17 29281526 29281526 + Missense_Mutation SNP G G T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr17:29281526G>T uc002hfx.2 + 9 1114 c.835G>T c.(835-837)GCC>TCC p.A279S ADAP2_uc010csk.2_Missense_Mutation_p.A285S|ADAP2_uc002hfy.2_Missense_Mutation_p.A278S|ADAP2_uc010csl.2_RNA NM_018404 NP_060874 Q9NPF8 ADAP2_HUMAN centaurin-alpha 2 protein 279 PH 2. heart development|regulation of ARF GTPase activity mitochondrial envelope|plasma membrane ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding p.?(1) ovary(1) 1 AAGGTGGTTCGCCCTGGATTG 0.537000 MED13 9969 broad.mit.edu 37 17 60061595 60061595 + Missense_Mutation SNP C C G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr17:60061595C>G uc002izo.2 - 15 2902 c.2825G>C c.(2824-2826)AGT>ACT p.S942T NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 942 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 AACAGTCCAACTCTGACGGTA 0.403000 SYNGR2 9144 broad.mit.edu 37 17 76168001 76168001 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr17:76168001C>T uc002juu.1 + 4 686 c.659C>T c.(658-660)CCG>CTG p.P220L SYNGR2_uc002jut.2_Missense_Mutation_p.R250C|SYNGR2_uc002juv.1_3'UTR|SYNGR2_uc010dhi.1_RNA NM_004710 NP_004701 O43760 SNG2_HUMAN synaptogyrin 2 220 integral to plasma membrane 0 BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.0994) GGCTACCAGCCGCCCCCTGTG 0.647000 DSEL 92126 broad.mit.edu 37 18 65181679 65181679 + Missense_Mutation SNP A A G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr18:65181679A>G uc002lke.1 - 2 1421 c.197T>C c.(196-198)CTG>CCG p.L66P NM_032160 NP_115536 Q8IZU8 DSEL_HUMAN dermatan sulfate epimerase-like 56 integral to membrane isomerase activity|sulfotransferase activity ovary(3)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1) 6 Esophageal squamous(42;0.129) ACTTTTCTTCAGCTTTTGGTT 0.378000 NFATC1 4772 broad.mit.edu 37 18 77171139 77171139 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr18:77171139C>T uc010xfg.1 + 2 1317 c.864C>T c.(862-864)CAC>CAT p.H288H NFATC1_uc002lnc.1_Silent_p.H288H|NFATC1_uc010xff.1_Silent_p.H288H|NFATC1_uc002lnd.2_Silent_p.H288H|NFATC1_uc002lne.2_Intron|NFATC1_uc010xfh.1_Silent_p.H288H|NFATC1_uc010xfi.1_Silent_p.H275H|NFATC1_uc010xfj.1_Intron|NFATC1_uc002lnf.2_Silent_p.H275H|NFATC1_uc002lng.2_Silent_p.H275H|NFATC1_uc010xfk.1_Silent_p.H275H NM_006162 NP_006153 O95644 NFAC1_HUMAN nuclear factor of activated T-cells, cytosolic 288 3 X SP repeats.|3. intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter cytoplasm|nucleus FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding large_intestine(1)|ovary(1) 2 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257) CGTCCCCGCACGGCTCCCCGC 0.692000 ELANE 1991 broad.mit.edu 37 19 853309 853309 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr19:853309G>A uc002lqb.2 + 3 310 c.272G>A c.(271-273)CGG>CAG p.R91Q NM_001972 NP_001963 P08246 ELNE_HUMAN neutrophil elastase preproprotein 91 Peptidase S1. cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV cell surface|extracellular region|stored secretory granule bacterial cell surface binding|cytokine binding|heparin binding pancreas(1) 1 Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019) AACCTCTCGCGGCGGGAGCCC 0.672000 Kostmann_syndrome HMHA1 23526 broad.mit.edu 37 19 1079752 1079752 + Silent SNP G G T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr19:1079752G>T uc002lqz.1 + 12 1656 c.1425G>T c.(1423-1425)ACG>ACT p.T475T HMHA1_uc010xgd.1_Silent_p.T491T|HMHA1_uc010xge.1_Silent_p.T315T|HMHA1_uc002lra.1_Silent_p.T315T|HMHA1_uc002lrb.1_Silent_p.T358T|HMHA1_uc002lrc.1_Silent_p.T110T NM_012292 NP_036424 Q92619 HMHA1_HUMAN minor histocompatibility antigen HA-1 475 Potential. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity|metal ion binding lung(1) 1 Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) ACGCGAAGACGCAGAAGCAGG 0.682000 CLEC17A 388512 broad.mit.edu 37 19 14705596 14705596 + Silent SNP T T C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr19:14705596T>C uc010dzn.1 + 7 464 c.387T>C c.(385-387)TGT>TGC p.C129C CLEC17A_uc002mzh.1_Silent_p.C112C|CLEC17A_uc010xnt.1_RNA|CLEC17A_uc010xnu.1_Silent_p.C129C|CLEC17A_uc010dzo.1_Silent_p.C129C Q6ZS10 CL17A_HUMAN SubName: Full=CLEC17A protein; 129 Cytoplasmic (Potential). cell surface|integral to membrane fucose binding|mannose binding|metal ion binding|receptor activity 0 CTGTCACCTGTCCACCTCCTC 0.488000 ZNF568 374900 broad.mit.edu 37 19 37488168 37488168 + Silent SNP T T C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr19:37488168T>C uc010efg.2 + 10 2090 c.1533T>C c.(1531-1533)CAT>CAC p.H511H ZNF568_uc010xtn.1_Silent_p.H449H|uc010efi.2_Silent_p.H329H|uc010efj.2_Silent_p.H329H Q3ZCX4 ZN568_HUMAN SubName: Full=cDNA FLJ57578, moderately similar to Mus musculus zinc finger protein 568 (Zfp568), mRNA; 548 C2H2-type 12. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(1)|ovary(1) 2 Esophageal squamous(110;0.183) COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) TTATTCGACATCAGAGTGTCC 0.448000 PRX 57716 broad.mit.edu 37 19 40900427 40900427 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr19:40900427C>T uc002onr.2 - 7 4101 c.3832G>A c.(3832-3834)GAC>AAC p.D1278N PRX_uc002onq.2_Missense_Mutation_p.D1139N|PRX_uc002ons.2_3'UTR NM_181882 NP_870998 Q9BXM0 PRAX_HUMAN periaxin isoform 2 1278 axon ensheathment cytoplasm|nucleus|plasma membrane protein binding ovary(2) 2 Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384) AGCTCCACGTCGGGCAGTGAG 0.687000 CYP2A13 1553 broad.mit.edu 37 19 41600977 41600977 + Missense_Mutation SNP G G C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr19:41600977G>C uc002opt.2 + 8 1284 c.1275G>C c.(1273-1275)AAG>AAC p.K425N NM_000766 NP_000757 Q16696 CP2AD_HUMAN cytochrome P450, family 2, subfamily A, 425 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding ovary(2)|skin(1) 3 Clomipramine(DB01242)|Nicotine(DB00184) AGTTTAAGAAGAGTGATGCTT 0.577000 SHANK1 50944 broad.mit.edu 37 19 51171798 51171798 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr19:51171798G>A uc002psx.1 - 22 3438 c.3419C>T c.(3418-3420)CCG>CTG p.P1140L SHANK1_uc002psw.1_Missense_Mutation_p.P524L NM_016148 NP_057232 Q9Y566 SHAN1_HUMAN SH3 and multiple ankyrin repeat domains 1 1140 cytoskeletal anchoring at plasma membrane cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane ionotropic glutamate receptor binding large_intestine(2) 2 all_neural(266;0.057) OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199) ggcgggcggcggctgcgggga 0.443000 LILRA5 353514 broad.mit.edu 37 19 54823401 54823401 + Missense_Mutation SNP T T C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr19:54823401T>C uc002qfe.2 - 4 262 c.142A>G c.(142-144)ACC>GCC p.T48A LILRA5_uc002qff.2_Missense_Mutation_p.T36A|LILRA5_uc010yev.1_Missense_Mutation_p.T48A|LILRA5_uc010yew.1_Missense_Mutation_p.T36A|LILRA5_uc002qfh.1_Missense_Mutation_p.T36A|LILRA5_uc002qfg.1_Missense_Mutation_p.T48A NM_021250 NP_067073 A6NI73 LIRA5_HUMAN leukocyte immunoglobulin-like receptor subfamily 48 Extracellular (Potential). innate immune response extracellular region|integral to membrane receptor activity upper_aerodigestive_tract(1) 1 Ovarian(34;0.19) GBM - Glioblastoma multiforme(193;0.105) GCCCAGAGGGTGGCTTTGGAG 0.617000 TPO 7173 broad.mit.edu 37 2 1507810 1507810 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr2:1507810C>T uc002qww.2 + 14 2568 c.2477C>T c.(2476-2478)GCG>GTG p.A826V TPO_uc010ewj.2_RNA|TPO_uc002qwu.2_Missense_Mutation_p.A769V|TPO_uc002qwr.2_Missense_Mutation_p.A826V|TPO_uc002qwx.2_Missense_Mutation_p.A769V|TPO_uc010yio.1_Missense_Mutation_p.A653V|TPO_uc010yip.1_Intron|TPO_uc002qwy.1_Intron|TPO_uc002qwz.2_Intron NM_000547 NP_000538 P07202 PERT_HUMAN thyroid peroxidase isoform a 826 Extracellular (Potential).|EGF-like; calcium-binding (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) TGTCTCTGCGCGGACCCCTAC 0.572000 C2orf44 80304 broad.mit.edu 37 2 24261172 24261172 + Missense_Mutation SNP A A C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr2:24261172A>C uc002rep.2 - 2 1324 c.1193T>G c.(1192-1194)CTA>CGA p.L398R C2orf44_uc010eya.2_Missense_Mutation_p.L398R NM_025203 NP_079479 Q9H6R7 CB044_HUMAN hypothetical protein LOC80304 isoform 1 398 protein binding ovary(1)|breast(1) 2 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) AATTAGTAATAGTTGGTCTGT 0.353000 NCOA1 8648 broad.mit.edu 37 2 24964833 24964833 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr2:24964833G>A uc002rfk.2 + 17 3742 c.3484G>A c.(3484-3486)GGT>AGT p.G1162S NCOA1_uc010eye.2_Missense_Mutation_p.G1162S|NCOA1_uc002rfi.2_Missense_Mutation_p.G1011S|NCOA1_uc002rfj.2_Missense_Mutation_p.G1162S|NCOA1_uc002rfl.2_Missense_Mutation_p.G1162S|NCOA1_uc010eyf.2_Missense_Mutation_p.G55S NM_003743 NP_003734 Q15788 NCOA1_HUMAN nuclear receptor coactivator 1 isoform 1 1162 PAX3/NCOA1(8) soft_tissue(8)|ovary(1)|lung(1)|skin(1) 11 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TCTTCCTCAGGGTGCTCCACA 0.522000 T PAX3 alveolar rhadomyosarcoma C2orf39 92749 broad.mit.edu 37 2 26677608 26677608 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr2:26677608C>T uc002rhg.2 + 15 2087 c.2013C>T c.(2011-2013)TCC>TCT p.S671S NM_145038 NP_659475 Q96MC2 CC164_HUMAN hypothetical protein LOC92749 671 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) TGATCCCTTCCTCCAAGCAGA 0.592000 TTN 7273 broad.mit.edu 37 2 179417913 179417913 + Missense_Mutation SNP T T C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr2:179417913T>C uc010zfg.1 - 284 82234 c.82010A>G c.(82009-82011)AAT>AGT p.N27337S uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.N21032S|TTN_uc010zfi.1_Missense_Mutation_p.N20965S|TTN_uc010zfj.1_Missense_Mutation_p.N20840S NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 28264 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) TCCTGTATCATTGCGAGTAAC 0.408000 CRYGD 1421 broad.mit.edu 37 2 208988895 208988895 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr2:208988895C>T uc002vcn.3 - 2 309 c.193G>A c.(193-195)GAC>AAC p.D65N NM_006891 NP_008822 P07320 CRGD_HUMAN crystallin, gamma D 65 Beta/gamma crystallin 'Greek key' 2. cellular response to reactive oxygen species|visual perception soluble fraction protein binding|structural constituent of eye lens 0 LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133) TGCTGGTGGTCGGCATAGTCG 0.662000 SCG2 7857 broad.mit.edu 37 2 224463718 224463718 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr2:224463718C>T uc002vnm.2 - 2 416 c.283G>A c.(283-285)GAT>AAT p.D95N NM_003469 NP_003460 P13521 SCG2_HUMAN secretogranin II precursor 95 angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion extracellular space|stored secretory granule chemoattractant activity|cytokine activity ovary(1) 1 Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271) Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008) TGGCTTTCATCGCCATTTTCT 0.463000 JAG1 182 broad.mit.edu 37 20 10639259 10639259 + Missense_Mutation SNP C C T rs121918351 TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr20:10639259C>T uc002wnw.2 - 4 1067 c.551G>A c.(550-552)CGC>CAC p.R184H NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 184 Extracellular (Potential). R -> C (in ALGS1).|R -> H (in ALGS1).|R -> G (in ALGS1).|R -> L (in ALGS1). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 ACAGGTCACGCGGATCTGATA 0.522000 Alagille_Syndrome SSTR4 6754 broad.mit.edu 37 20 23016919 23016919 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr20:23016919G>A uc002wsr.2 + 1 863 c.799G>A c.(799-801)GTC>ATC p.V267I NM_001052 NP_001043 P31391 SSR4_HUMAN somatostatin receptor 4 267 Helical; Name=6; (Potential). G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity ovary(1) 1 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) GGTCGTGGTCGTCTTTGTGCT 0.607000 SEMG2 6407 broad.mit.edu 37 20 43850987 43850987 + Silent SNP C C A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr20:43850987C>A uc010ggz.2 + 2 771 c.714C>A c.(712-714)CTC>CTA p.L238L SEMG2_uc002xnk.2_Silent_p.L238L|SEMG2_uc002xnl.2_Silent_p.L238L NM_003008 NP_002999 Q02383 SEMG2_HUMAN semenogelin II precursor 238 2-2.|Repeat-rich region. sexual reproduction extracellular space|stored secretory granule structural molecule activity skin(1) 1 Myeloproliferative disorder(115;0.0122) AAACTTCACTCCATCCTGCAC 0.378000 ARFGEF2 10564 broad.mit.edu 37 20 47639687 47639687 + Missense_Mutation SNP A A C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr20:47639687A>C uc002xtx.3 + 35 4876 c.4724A>C c.(4723-4725)AAG>ACG p.K1575T ARFGEF2_uc010zyf.1_Missense_Mutation_p.K868T NM_006420 NP_006411 Q9Y6D5 BIG2_HUMAN ADP-ribosylation factor guanine 1575 exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction cytosol|Golgi membrane ARF guanyl-nucleotide exchange factor activity breast(3)|upper_aerodigestive_tract(1) 4 BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198) ACGAGCAAAAAGGAGGATGCA 0.478000 CBLN4 140689 broad.mit.edu 37 20 54579014 54579014 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr20:54579014C>T uc002xxa.2 - 1 999 c.214G>A c.(214-216)GCC>ACC p.A72T NM_080617 NP_542184 Q9NTU7 CBLN4_HUMAN cerebellin 4 precursor 72 C1q. cell junction|extracellular region|synapse p.A72T(1) ovary(3)|pancreas(1) 4 Colorectal(105;0.202) GCCGAGAAGGCGACCTTGGAG 0.637000 ZNF831 128611 broad.mit.edu 37 20 57766931 57766931 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr20:57766931C>T uc002yan.2 + 1 857 c.857C>T c.(856-858)GCG>GTG p.A286V NM_178457 NP_848552 Q5JPB2 ZN831_HUMAN zinc finger protein 831 286 intracellular nucleic acid binding|zinc ion binding skin(13)|ovary(1) 14 all_lung(29;0.0085) GCCCCCATGGCGTCACCTGGG 0.662000 GTPBP5 26164 broad.mit.edu 37 20 60768650 60768650 + Silent SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr20:60768650G>A uc002yce.3 + 2 212 c.174G>A c.(172-174)CCG>CCA p.P58P GTPBP5_uc011aab.1_Intron|GTPBP5_uc011aac.1_Intron|GTPBP5_uc011aad.1_5'UTR|GTPBP5_uc011aae.1_Intron|GTPBP5_uc011aaf.1_Silent_p.P58P|GTPBP5_uc011aag.1_Silent_p.P58P NM_015666 NP_056481 Q9H4K7 GTPB5_HUMAN GTP binding protein 5 58 Localized in the mitocondria.|Not localized in the mitocondria. ribosome biogenesis mitochondrion GTP binding|GTPase activity|magnesium ion binding 0 Breast(26;3.52e-09) BRCA - Breast invasive adenocarcinoma(19;2.5e-08) AGGAACTCCCGGGGAAGAAGC 0.627000 TIAM1 7074 broad.mit.edu 37 21 32493107 32493107 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr21:32493107C>T uc002yow.1 - 29 4827 c.4355G>A c.(4354-4356)CGA>CAA p.R1452Q TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Missense_Mutation_p.R1392Q NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1452 apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cell-cell junction|cytosol receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity lung(3)|breast(3)|ovary(2)|large_intestine(2) 10 AAACCTGTTTCGAGCCAGCCG 0.552000 C21orf63 59271 broad.mit.edu 37 21 33867373 33867373 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr21:33867373G>A uc002ypr.1 + 5 1081 c.671G>A c.(670-672)CGA>CAA p.R224Q C21orf63_uc002yps.1_RNA|C21orf63_uc010glw.1_Missense_Mutation_p.R224Q|C21orf63_uc002ypt.1_RNA|C21orf63_uc002ypu.1_Missense_Mutation_p.R129Q|C21orf63_uc011adq.1_5'UTR NM_058187 NP_478067 P58658 CU063_HUMAN hypothetical protein LOC59271 precursor 224 SUEL-type lectin 2.|Extracellular (Potential). integral to membrane sugar binding ovary(2)|pancreas(1) 3 GTCCTATCCCGAAGGTGCTAT 0.488000 SEC14L2 23541 broad.mit.edu 37 22 30812329 30812329 + Nonsense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr22:30812329C>T uc003ahr.2 + 11 1191 c.1018C>T c.(1018-1020)CAG>TAG p.Q340* SEC14L2_uc003ahq.2_Nonsense_Mutation_p.Q340*|SEC14L2_uc011akx.1_Nonsense_Mutation_p.Q286*|SEC14L2_uc003ahs.2_Nonsense_Mutation_p.Q266*|SEC14L2_uc011aky.1_Nonsense_Mutation_p.Q257*|SEC14L2_uc003aht.2_RNA|SEC14L2_uc003ahu.3_Intron|SEC14L2_uc010gvv.2_RNA|SEC14L2_uc010gvw.1_Intron|MTP18_uc010gvx.1_Nonsense_Mutation_p.Q33*|MTP18_uc003ahv.1_Nonsense_Mutation_p.Q164*|MTP18_uc010gvy.1_Intron NM_012429 NP_036561 O76054 S14L2_HUMAN SEC14-like 2 isoform 1 340 GOLD. positive regulation of transcription, DNA-dependent|transcription, DNA-dependent integral to membrane|nucleus phospholipid binding|transporter activity|vitamin E binding 0 Vitamin E(DB00163) GCTGCCCAACCAGAGGTACAA 0.547000 SEC14L4 284904 broad.mit.edu 37 22 30891385 30891385 + Silent SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr22:30891385G>A uc003aid.2 - 5 379 c.279C>T c.(277-279)TAC>TAT p.Y93Y SEC14L4_uc011akz.1_Silent_p.Y93Y|SEC14L4_uc003aie.2_Silent_p.Y78Y|SEC14L4_uc003aif.2_Silent_p.Y39Y NM_174977 NP_777637 Q9UDX3 S14L4_HUMAN SEC14p-like protein TAP3 isoform a 93 CRAL-TRIO. integral to membrane|intracellular lipid binding|transporter activity skin(1) 1 Vitamin E(DB00163) GGCAGCCTTCGTAGTCGTAGC 0.562000 CNTN6 27255 broad.mit.edu 37 3 1414148 1414148 + Missense_Mutation SNP G G T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr3:1414148G>T uc003boz.2 + 13 1925 c.1658G>T c.(1657-1659)AGG>ATG p.R553M CNTN6_uc011asj.1_Missense_Mutation_p.R481M|CNTN6_uc003bpa.2_Missense_Mutation_p.R553M NM_014461 NP_055276 Q9UQ52 CNTN6_HUMAN contactin 6 precursor 553 Ig-like C2-type 6. axon guidance|cell adhesion|central nervous system development|Notch signaling pathway anchored to membrane|plasma membrane skin(3)|lung(2)|breast(2)|pancreas(1) 8 all_cancers(2;0.000164)|all_epithelial(2;0.107) Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139) CATTTTGAAAGGATTGGAGGA 0.358000 CPNE9 151835 broad.mit.edu 37 3 9756630 9756630 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr3:9756630G>A uc003bsd.2 + 10 854 c.683G>A c.(682-684)CGG>CAG p.R228Q NM_153635 NP_705899 Q8IYJ1 CPNE9_HUMAN copine-like protein 228 C2 2. ovary(2) 2 Medulloblastoma(99;0.227) GACTGGGACCGGGATGGAAGG 0.453000 BSN 8927 broad.mit.edu 37 3 49680203 49680203 + Missense_Mutation SNP C C A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr3:49680203C>A uc003cxe.3 + 3 1250 c.1136C>A c.(1135-1137)CCC>CAC p.P379H NM_003458 NP_003449 Q9UPA5 BSN_HUMAN bassoon protein 379 synaptic transmission cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome metal ion binding ovary(5)|pancreas(1)|central_nervous_system(1)|skin(1) 8 BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336) CAGCCTGCCCCCAGCAAGGGG 0.652000 PCOLCE2 26577 broad.mit.edu 37 3 142567080 142567080 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr3:142567080C>T uc003evd.2 - 3 623 c.427G>A c.(427-429)GCT>ACT p.A143T NM_013363 NP_037495 Q9UKZ9 PCOC2_HUMAN procollagen C-endopeptidase enhancer 2 143 CUB 1. extracellular region collagen binding|heparin binding|peptidase activator activity ovary(2)|skin(1) 3 GGTTCAGCAGCGGAGAACATG 0.458000 MME 4311 broad.mit.edu 37 3 154832866 154832866 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr3:154832866C>T uc010hvr.1 + 4 491 c.280C>T c.(280-282)CGT>TGT p.R94C MME_uc003fab.1_Missense_Mutation_p.R94C|MME_uc003fac.1_Missense_Mutation_p.R94C|MME_uc003fad.1_Missense_Mutation_p.R94C|MME_uc003fae.1_Missense_Mutation_p.R94C NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 94 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) CTGGTTGAAACGTAATGTCAT 0.448000 FGF12 2257 broad.mit.edu 37 3 192053209 192053209 + Nonsense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr3:192053209G>A uc003fsx.2 - 3 1181 c.355C>T c.(355-357)CAA>TAA p.Q119* FGF12_uc003fsy.2_Nonsense_Mutation_p.Q57* NM_021032 NP_066360 P61328 FGF12_HUMAN fibroblast growth factor 12 isoform 1 119 cell-cell signaling|heart development|JNK cascade|nervous system development|signal transduction extracellular space|nucleus growth factor activity|heparin binding ovary(1)|skin(1)|lung(1)|pancreas(1) 4 all_cancers(143;1.72e-08)|Ovarian(172;0.0634)|Breast(254;0.247) Lung NSC(153;0.21) LUSC - Lung squamous cell carcinoma(58;5.45e-06)|Lung(62;6.17e-06) GBM - Glioblastoma multiforme(46;0.00032) TTCACTCCTTGGATGGCCACT 0.458000 KIAA1530 57654 broad.mit.edu 37 4 1345537 1345537 + Missense_Mutation SNP C C G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr4:1345537C>G uc003gde.3 + 4 911 c.464C>G c.(463-465)GCA>GGA p.A155G NM_020894 NP_065945 Q2YD98 K1530_HUMAN hypothetical protein LOC57654 155 0 OV - Ovarian serous cystadenocarcinoma(23;0.0138) CGGAGTCTGGCAGAAAGGAAG 0.373000 OREG0016033 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FRAS1 80144 broad.mit.edu 37 4 79396677 79396677 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr4:79396677C>T uc003hlb.2 + 54 8208 c.7768C>T c.(7768-7770)CGC>TGC p.R2590C NM_025074 NP_079350 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 2589 Calx-beta 1.|Extracellular (Potential). cell communication integral to membrane|plasma membrane metal ion binding large_intestine(5) 5 CGTCCTGTGTCGCACCGAGCA 0.577000 LEF1 51176 broad.mit.edu 37 4 108991888 108991888 + Silent SNP A A G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr4:108991888A>G uc003hyt.1 - 9 1702 c.1047T>C c.(1045-1047)TAT>TAC p.Y349Y LEF1_uc011cfj.1_Silent_p.Y206Y|LEF1_uc011cfk.1_Silent_p.Y253Y|LEF1_uc003hyu.1_Silent_p.Y321Y|LEF1_uc003hyv.1_Silent_p.Y321Y|LEF1_uc010imb.1_RNA|LEF1_uc003hys.1_RNA|LEF1_uc010ima.1_Silent_p.Y37Y|LEF1_uc003hyw.1_RNA NM_016269 NP_057353 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 isoform 1 349 HMG box. canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation cytoplasm|protein-DNA complex|transcription factor complex armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding large_intestine(1) 1 OV - Ovarian serous cystadenocarcinoma(123;0.000224) GTGCTAATTCATAATATTTAG 0.418000 HAND2 9464 broad.mit.edu 37 4 174450016 174450016 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr4:174450016C>T uc003ith.1 - 1 1363 c.425G>A c.(424-426)CGC>CAC p.R142H NBLA00301_uc011ckd.1_5'Flank|NBLA00301_uc003itl.3_5'Flank|NBLA00301_uc003itj.2_5'Flank|NBLA00301_uc010irf.2_5'Flank|NBLA00301_uc010irg.2_5'Flank|NBLA00301_uc010irh.2_5'Flank|NBLA00301_uc010iri.2_5'Flank|NBLA00301_uc010irj.2_5'Flank|NBLA00301_uc010irk.2_5'Flank|NBLA00301_uc010irl.2_5'Flank|NBLA00301_uc010irm.2_5'Flank|NBLA00301_uc010irn.2_5'Flank|NBLA00301_uc003itk.2_5'Flank|HAND2_uc003itg.1_Silent_p.A107A|HAND2_uc010ire.1_Missense_Mutation_p.R142H NM_021973 NP_068808 P61296 HAND2_HUMAN basic helix-loop-helix transcription factor 142 Helix-loop-helix motif. adult heart development|angiogenesis|apoptosis|cardiac neural crest cell development involved in outflow tract morphogenesis|heart looping|in utero embryonic development|negative regulation of cardiac muscle cell apoptosis|noradrenergic neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|regulation of secondary heart field cardioblast proliferation|thymus development nuclear chromatin|transcription factor complex activating transcription factor binding|protein homodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|transcription coactivator activity skin(1) 1 Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107) all cancers(43;1.37e-18)|Epithelial(43;5.5e-17)|OV - Ovarian serous cystadenocarcinoma(60;3.3e-10)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249) GGTGGCCAGGCGCAGGGTCTT 0.612000 FAT1 2195 broad.mit.edu 37 4 187557880 187557880 + Silent SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr4:187557880G>A uc003izf.2 - 5 4019 c.3831C>T c.(3829-3831)ACC>ACT p.T1277T NM_005245 NP_005236 Q14517 FAT1_HUMAN FAT tumor suppressor 1 precursor 1277 Extracellular (Potential).|Cadherin 11. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding ovary(10)|central_nervous_system(1)|pancreas(1) 12 CATCCTTGTCGGTGGCTATGA 0.493000 HNSCC(5;0.00058) UGT3A1 133688 broad.mit.edu 37 5 35965682 35965682 + Missense_Mutation SNP T T C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr5:35965682T>C uc003jjv.1 - 4 806 c.649A>G c.(649-651)ATG>GTG p.M217V UGT3A1_uc003jjw.1_RNA|UGT3A1_uc011coq.1_Missense_Mutation_p.M217V|UGT3A1_uc011cor.1_Missense_Mutation_p.M183V|UGT3A1_uc003jjy.1_Missense_Mutation_p.M163V NM_152404 NP_689617 Q6NUS8 UD3A1_HUMAN UDP glycosyltransferase 3 family, polypeptide A1 217 Extracellular (Potential). integral to membrane glucuronosyltransferase activity ovary(2)|central_nervous_system(1) 3 all_lung(31;0.000197) Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) GTAGACTGCATGTCCCATTGG 0.448000 C5orf42 65250 broad.mit.edu 37 5 37170433 37170433 + Silent SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr5:37170433G>A uc011cpa.1 - 33 6403 c.6172C>T c.(6172-6174)CTG>TTG p.L2058L C5orf42_uc011coy.1_Silent_p.L558L|C5orf42_uc003jks.2_RNA|C5orf42_uc011coz.1_Silent_p.L1133L|C5orf42_uc003jkr.1_Silent_p.L91L NM_023073 NP_075561 E9PH94 E9PH94_HUMAN hypothetical protein LOC65250 2058 ovary(4)|breast(2)|skin(1) 7 all_lung(31;0.000616) COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202) ATCTGTTGCAGCTTGAATAAA 0.338000 CHSY3 337876 broad.mit.edu 37 5 129241195 129241195 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr5:129241195G>A uc003kvd.2 + 1 673 c.673G>A c.(673-675)GCG>ACG p.A225T NM_175856 NP_787052 Q70JA7 CHSS3_HUMAN chondroitin sulfate synthase 3 225 Lumenal (Potential).|Pro-rich. Golgi cisterna membrane|integral to membrane glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity ovary(2)|pancreas(1) 3 all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239) KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365) OV - Ovarian serous cystadenocarcinoma(64;0.136) GCCTGTCATCGCGCTACCGGG 0.612000 SLC36A2 153201 broad.mit.edu 37 5 150696616 150696616 + Missense_Mutation SNP A A C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr5:150696616A>C uc003lty.2 - 10 1344 c.1214T>G c.(1213-1215)CTG>CGG p.L405R GM2A_uc011dcs.1_Intron|SLC36A2_uc003ltz.2_RNA|SLC36A2_uc003lua.2_Missense_Mutation_p.L207R NM_181776 NP_861441 Q495M3 S36A2_HUMAN solute carrier family 36, member 2 405 Helical; (Potential). cellular nitrogen compound metabolic process cytoplasm|integral to membrane|plasma membrane glycine transmembrane transporter activity ovary(1)|central_nervous_system(1) 2 Medulloblastoma(196;0.109)|all_hematologic(541;0.243) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GGAGATGACCAGGTCCAGGCG 0.607000 EEF1E1 9521 broad.mit.edu 37 6 8097522 8097522 + Missense_Mutation SNP T T C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr6:8097522T>C uc003mxz.2 - 2 340 c.266A>G c.(265-267)AAT>AGT p.N89S EEF1E1_uc011dic.1_Missense_Mutation_p.N89S NM_004280 NP_004271 O43324 MCA3_HUMAN eukaryotic translation elongation factor 1 89 GST C-terminal. negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of DNA damage response, signal transduction by p53 class mediator|tRNA aminoacylation for protein translation cytosol|nucleus 0 Ovarian(93;0.0398) GTGGATGTCATTTTTACTGGA 0.403000 HIVEP1 3096 broad.mit.edu 37 6 12125570 12125570 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr6:12125570G>A uc003nac.2 + 4 5721 c.5542G>A c.(5542-5544)GTT>ATT p.V1848I HIVEP1_uc011diq.1_RNA NM_002114 NP_002105 P15822 ZEP1_HUMAN human immunodeficiency virus type I enhancer 1848 transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 Breast(50;0.0639)|Ovarian(93;0.0816) all_hematologic(90;0.117) TAAATTTGTCGTTATAGAACC 0.338000 CRISP3 10321 broad.mit.edu 37 6 49704128 49704128 + Silent SNP G G C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr6:49704128G>C uc003ozs.2 - 3 180 c.165C>G c.(163-165)CCC>CCG p.P55P NM_006061 NP_006052 P54108 CRIS3_HUMAN cysteine-rich secretory protein 3 precursor 55 innate immune response proteinaceous extracellular matrix|specific granule skin(2) 2 Lung NSC(77;0.0161) KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156) TTCTGGCAGGGGGAGATACTG 0.473000 REV3L 5980 broad.mit.edu 37 6 111652933 111652933 + Silent SNP A A G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr6:111652933A>G uc003puy.3 - 24 8303 c.7980T>C c.(7978-7980)CTT>CTC p.L2660L REV3L_uc003pux.3_Silent_p.L2582L|REV3L_uc003puz.3_Silent_p.L2582L|REV3L_uc003pva.1_RNA NM_002912 NP_002903 O60673 DPOLZ_HUMAN DNA polymerase zeta 2660 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) TAACTTGGTAAAGTAAATCTG 0.363000 DNA_polymerases_(catalytic_subunits)|Direct_reversal_of_damage PDE1C 5137 broad.mit.edu 37 7 31917586 31917586 + Missense_Mutation SNP T T G TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr7:31917586T>G uc003tcm.1 - 5 958 c.489A>C c.(487-489)TTA>TTC p.L163F PDE1C_uc003tcn.1_Missense_Mutation_p.L163F|PDE1C_uc003tco.1_Missense_Mutation_p.L223F|PDE1C_uc003tcr.2_Missense_Mutation_p.L163F|PDE1C_uc003tcs.2_Missense_Mutation_p.L163F NM_005020 NP_005011 Q14123 PDE1C_HUMAN phosphodiesterase 1C 163 activation of phospholipase C activity|nerve growth factor receptor signaling pathway cytosol calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding skin(3)|central_nervous_system(1) 4 GBM - Glioblastoma multiforme(11;0.216) GTATTACCTTTAATGCCTCAA 0.333000 KIAA1324L 222223 broad.mit.edu 37 7 86542424 86542424 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr7:86542424C>T uc011kha.1 - 14 2013 c.1828G>A c.(1828-1830)GGT>AGT p.G610S KIAA1324L_uc003uif.1_Missense_Mutation_p.G370S|KIAA1324L_uc011kgz.1_Missense_Mutation_p.G496S|KIAA1324L_uc003uie.2_Missense_Mutation_p.G443S NM_001142749 NP_001136221 A8MWY0 K132L_HUMAN hypothetical protein LOC222223 isoform 1 610 Extracellular (Potential). integral to membrane ovary(6)|skin(1) 7 Esophageal squamous(14;0.0058) TGTTCAGAACCGAGGGCACAG 0.507000 OR2F2 135948 broad.mit.edu 37 7 143632642 143632642 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr7:143632642C>T uc011ktv.1 + 1 317 c.317C>T c.(316-318)GCC>GTC p.A106V NM_001004685 NP_001004685 O95006 OR2F2_HUMAN olfactory receptor, family 2, subfamily F, 106 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(3)|skin(1) 4 Melanoma(164;0.0903) TTCTCCCTGGCCTTGGGTGGG 0.547000 PDIA4 9601 broad.mit.edu 37 7 148701057 148701057 + Silent SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr7:148701057G>A uc003wff.2 - 10 2049 c.1767C>T c.(1765-1767)GAC>GAT p.D589D NM_004911 NP_004902 P13667 PDIA4_HUMAN protein disulfide isomerase A4 precursor 589 Thioredoxin 3. cell redox homeostasis|glycerol ether metabolic process|protein secretion endoplasmic reticulum lumen|melanosome electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity lung(5)|ovary(1) 6 Melanoma(164;0.15) OV - Ovarian serous cystadenocarcinoma(82;0.00385) CGCTGGGGACGTCGTTGGCAG 0.577000 GALNTL5 168391 broad.mit.edu 37 7 151684285 151684285 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr7:151684285C>T uc003wkp.2 + 5 800 c.577C>T c.(577-579)CGG>TGG p.R193W GALNTL5_uc003wkq.2_Intron|GALNTL5_uc003wkr.2_RNA|GALNTL5_uc003wks.2_RNA|GALNTL5_uc010lqf.2_Missense_Mutation_p.R82W NM_145292 NP_660335 Q7Z4T8 GLTL5_HUMAN UDP-N-acetyl-alpha-D-galactosamine:polypeptide 193 Catalytic subdomain A.|Lumenal (Potential). Golgi membrane|integral to membrane transferase activity, transferring glycosyl groups ovary(2) 2 all_neural(206;0.187) all_hematologic(28;0.0749) OV - Ovarian serous cystadenocarcinoma(82;0.00427) UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166) GGAAACTTTTCGGGGAAAGGT 0.378000 PTPRN2 5799 broad.mit.edu 37 7 157931093 157931093 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr7:157931093C>T uc003wno.2 - 7 1146 c.1025G>A c.(1024-1026)GGC>GAC p.G342D PTPRN2_uc003wnp.2_Missense_Mutation_p.G325D|PTPRN2_uc003wnq.2_Missense_Mutation_p.G342D|PTPRN2_uc003wnr.2_Missense_Mutation_p.G304D|PTPRN2_uc011kwa.1_Missense_Mutation_p.G365D NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 342 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) ATGGTCCACGCCTTGCATCAG 0.672000 PTPRN2 5799 broad.mit.edu 37 7 157959936 157959936 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr7:157959936C>T uc003wno.2 - 6 718 c.597G>A c.(595-597)ACG>ACA p.T199T PTPRN2_uc003wnp.2_Silent_p.T182T|PTPRN2_uc003wnq.2_Silent_p.T199T|PTPRN2_uc003wnr.2_Silent_p.T161T|PTPRN2_uc011kwa.1_Silent_p.T222T NM_002847 NP_002838 Q92932 PTPR2_HUMAN protein tyrosine phosphatase, receptor type, N 199 Extracellular (Potential). integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity ovary(4)|large_intestine(1)|pleura(1)|skin(1) 7 all_neural(206;0.181) all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132) OV - Ovarian serous cystadenocarcinoma(82;0.00463) STAD - Stomach adenocarcinoma(7;0.0875) TCAGCGCAGACGTGTGGGCCA 0.622000 SLC25A37 51312 broad.mit.edu 37 8 23429083 23429083 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr8:23429083C>T uc003xdo.2 + 4 885 c.732C>T c.(730-732)GCC>GCT p.A244A SLC25A37_uc003xdp.2_RNA|SLC25A37_uc010ltz.2_RNA|SLC25A37_uc003xdq.2_RNA|SLC25A37_uc003xdr.1_RNA|uc003xds.2_5'Flank NM_016612 NP_057696 Q9NYZ2 MFRN1_HUMAN solute carrier family 25, member 37 244 Solcar 3.|Helical; Name=5; (Potential). ion transport|iron ion homeostasis integral to membrane|mitochondrial inner membrane 0 Prostate(55;0.114) Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751) GCGGGCTGGCCGGGGCCCTCG 0.647000 KCNU1 157855 broad.mit.edu 37 8 36698509 36698509 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr8:36698509C>T uc010lvw.2 + 16 1778 c.1691C>T c.(1690-1692)ACG>ATG p.T564M KCNU1_uc003xjw.2_RNA NM_001031836 NP_001027006 A8MYU2 KCNU1_HUMAN potassium channel, subfamily U, member 1 564 Cytoplasmic (Potential). voltage-gated potassium channel complex binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634) TCCCTCTTTACGGATGGTTTC 0.403000 MCM4 4173 broad.mit.edu 37 8 48889314 48889314 + Silent SNP T T C TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr8:48889314T>C uc003xqk.1 + 17 2663 c.2568T>C c.(2566-2568)ACT>ACC p.T856T MCM4_uc003xql.1_Silent_p.T856T|MCM4_uc011ldi.1_Silent_p.T843T NM_182746 NP_877423 P33991 MCM4_HUMAN minichromosome maintenance complex component 4 856 cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle MCM complex ATP binding|DNA binding|helicase activity|protein binding ovary(2)|skin(2) 4 all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354) TGACAGTGACTGGGAAGACCG 0.493000 NSMAF 8439 broad.mit.edu 37 8 59535981 59535981 + Silent SNP A A T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr8:59535981A>T uc003xtt.2 - 8 673 c.459T>A c.(457-459)CTT>CTA p.L153L NSMAF_uc011lee.1_Silent_p.L184L|NSMAF_uc003xtu.2_Silent_p.L153L NM_003580 NP_003571 Q92636 FAN_HUMAN neutral sphingomyelinase (N-SMase) activation 153 ceramide metabolic process cytoplasm|soluble fraction protein binding|receptor signaling protein activity ovary(1) 1 all_lung(136;0.174)|Lung NSC(129;0.2) ATGCTCTGTGAAGCTACAGTA 0.338000 EFR3A 23167 broad.mit.edu 37 8 132997219 132997219 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr8:132997219G>A uc003yte.2 + 16 1982 c.1781G>A c.(1780-1782)CGT>CAT p.R594H NM_015137 NP_055952 Q14156 EFR3A_HUMAN EFR3 homolog A 594 plasma membrane binding ovary(3)|breast(1)|central_nervous_system(1) 5 Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102) ATGTTCCATCGTTGTGGAATC 0.383000 ZNF658 26149 broad.mit.edu 37 9 40774433 40774433 + Missense_Mutation SNP T T A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr9:40774433T>A uc004abs.2 - 5 994 c.842A>T c.(841-843)AAA>ATA p.K281I ZNF658_uc010mmm.1_Missense_Mutation_p.K281I|ZNF658_uc010mmn.1_Missense_Mutation_p.K281I NM_033160 NP_149350 Q5TYW1 ZN658_HUMAN zinc finger protein 658 281 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(1) 1 GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681) AGCGGTGGTTTTGTCACAGGA 0.373000 PHF2 5253 broad.mit.edu 37 9 96428068 96428068 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr9:96428068G>A uc004aub.2 + 15 2185 c.2038G>A c.(2038-2040)GTG>ATG p.V680M PHF2_uc011lug.1_Missense_Mutation_p.V563M|PHF2_uc004auc.2_Missense_Mutation_p.V99M NM_005392 NP_005383 O75151 PHF2_HUMAN PHD finger protein 2 680 liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent nucleolus histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding ovary(1) 1 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;9.11e-28) GTATGAGTACGTGTCGGATGA 0.587000 ANKS6 203286 broad.mit.edu 37 9 101533322 101533322 + Missense_Mutation SNP C C T rs138782444 by1000genomes TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr9:101533322C>T uc004ayu.2 - 10 1849 c.1828G>A c.(1828-1830)GTC>ATC p.V610I ANKS6_uc004ayt.2_Missense_Mutation_p.V309I|ANKS6_uc004ayv.1_Missense_Mutation_p.V72I|ANKS6_uc004ayw.1_Missense_Mutation_p.V192I|ANKS6_uc004ayx.1_RNA|ANKS6_uc004ayy.1_RNA NM_173551 NP_775822 Q68DC2 ANKS6_HUMAN ankyrin repeat and sterile alpha motif domain 610 ovary(2) 2 Acute lymphoblastic leukemia(62;0.0527) ACAGGCCTGACGGGTGTCTAC 0.577000 TNC 3371 broad.mit.edu 37 9 117825304 117825304 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr9:117825304G>A uc004bjj.3 - 13 4287 c.3925C>T c.(3925-3927)CGT>TGT p.R1309C TNC_uc010mvf.2_Missense_Mutation_p.R1309C NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 1309 Fibronectin type-III 8. cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding central_nervous_system(4)|upper_aerodigestive_tract(1)|ovary(1)|skin(1) 7 TCCATGGAACGCAGGCTGCCA 0.592000 ASTN2 23245 broad.mit.edu 37 9 119976939 119976939 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr9:119976939C>T uc004bjs.1 - 3 814 c.713G>A c.(712-714)CGC>CAC p.R238H ASTN2_uc004bjr.1_Missense_Mutation_p.R238H|ASTN2_uc004bjt.1_Missense_Mutation_p.R238H NM_198187 NP_937830 O75129 ASTN2_HUMAN astrotactin 2 isoform c 238 Cytoplasmic (Potential). integral to membrane skin(4)|ovary(3)|breast(1)|kidney(1) 9 CTGGGGGATGCGGCGACGCTT 0.637000 CACNA1B 774 broad.mit.edu 37 9 140777327 140777327 + Silent SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr9:140777327C>T uc004cog.2 + 3 667 c.522C>T c.(520-522)GTC>GTT p.V174V uc004cof.1_RNA NM_000718 NP_000709 Q00975 CAC1B_HUMAN calcium channel, voltage-dependent, N type, 174 Helical; Name=S3 of repeat I; (Potential).|I. membrane depolarization|synaptic transmission voltage-gated calcium channel complex ATP binding|protein C-terminus binding|voltage-gated calcium channel activity breast(3)|large_intestine(2)|ovary(1) 6 all_cancers(76;0.166) OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476) Amlodipine(DB00381)|Gabapentin(DB00996) TCGTGGTCGTCCTCACAGGGT 0.612000 GRPR 2925 broad.mit.edu 37 X 16142390 16142390 + Missense_Mutation SNP G G T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chrX:16142390G>T uc004cxj.2 + 1 967 c.314G>T c.(313-315)AGA>ATA p.R105I NM_005314 NP_005305 P30550 GRPR_HUMAN gastrin-releasing peptide receptor 105 Extracellular (Potential). cell proliferation integral to plasma membrane bombesin receptor activity ovary(3)|lung(1) 4 Hepatocellular(33;0.183) CTGGCTGACAGATGGCTATTT 0.532000 OREG0019682 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) FAM47C 442444 broad.mit.edu 37 X 37029349 37029349 + Missense_Mutation SNP C C A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chrX:37029349C>A uc004ddl.1 + 1 2880 c.2866C>A c.(2866-2868)CCT>ACT p.P956T NM_001013736 NP_001013758 Q5HY64 FA47C_HUMAN hypothetical protein LOC442444 956 ovary(3) 3 AAGTGATGAACCTTTGATTGA 0.443000 RPS6KA6 27330 broad.mit.edu 37 X 83359569 83359569 + Missense_Mutation SNP G G A TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chrX:83359569G>A uc004eej.1 - 17 1629 c.1552C>T c.(1552-1554)CGG>TGG p.R518W RPS6KA6_uc011mqt.1_Missense_Mutation_p.R518W|RPS6KA6_uc011mqu.1_Missense_Mutation_p.R415W NM_014496 NP_055311 Q9UK32 KS6A6_HUMAN ribosomal protein S6 kinase polypeptide 6 518 Protein kinase 2. axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission cytosol|nucleoplasm ATP binding|magnesium ion binding|protein serine/threonine kinase activity lung(5)|stomach(1)|central_nervous_system(1)|skin(1) 8 CTAGCCTCCCGTTCCGAGAAA 0.353000 MUM1L1 139221 broad.mit.edu 37 X 105450999 105450999 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chrX:105450999C>T uc004emf.1 + 4 2223 c.1574C>T c.(1573-1575)CCG>CTG p.P525L MUM1L1_uc004emg.1_Missense_Mutation_p.P525L NM_152423 NP_689636 Q5H9M0 MUML1_HUMAN melanoma associated antigen (mutated) 1-like 1 525 ovary(2)|pancreas(1)|skin(1) 4 GCCAGGGAACCGATGGCTGTA 0.448000 ODZ1 10178 broad.mit.edu 37 X 123540329 123540329 + Missense_Mutation SNP C C T TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chrX:123540329C>T uc004euj.2 - 25 5036 c.4972G>A c.(4972-4974)GAG>AAG p.E1658K ODZ1_uc011muj.1_Missense_Mutation_p.E1664K|ODZ1_uc010nqy.2_Missense_Mutation_p.E1665K NM_014253 NP_055068 Q9UKZ4 TEN1_HUMAN odz, odd Oz/ten-m homolog 1 isoform 3 1658 Extracellular (Potential).|YD 5. 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 AGGTGTCCCTCGGGGTCATAC 0.488000 EZH1 2145 broad.mit.edu 37 17 40864502 40864503 + Frame_Shift_Del DEL CT CT - TCGA-CD-8528-01A-11D-2340-08 TCGA-CD-8528-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx f1428870-65bf-45a5-b321-578ad94288c1 07bd0343-e5c6-48bf-ae2a-1d3d56b624ea g.chr17:40864502_40864503delCT uc002iaz.2 - 12 1350_1351 c.1205_1206delAG c.(1204-1206)GAGfs p.E402fs EZH1_uc002iba.2_Frame_Shift_Del_p.E393fs|EZH1_uc010wgt.1_Frame_Shift_Del_p.E332fs|EZH1_uc010wgu.1_Frame_Shift_Del_p.E408fs|EZH1_uc010wgv.1_Frame_Shift_Del_p.E362fs|EZH1_uc010wgw.1_Frame_Shift_Del_p.E263fs|EZH1_uc010cyp.2_Frame_Shift_Del_p.E303fs|EZH1_uc010cyq.2_Frame_Shift_Del_p.E319fs|EZH1_uc010cyo.1_Frame_Shift_Del_p.E65fs|EZH1_uc010cyr.1_Frame_Shift_Del_p.E54fs NM_001991 NP_001982 Q92800 EZH1_HUMAN enhancer of zeste homolog 1 402 anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent ESC/E(Z) complex chromatin binding|DNA binding ovary(3) 3 Breast(137;0.00104) BRCA - Breast invasive adenocarcinoma(366;0.0784) GAGAGTTAGCCTCTGAGAAGGG 0.465