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 RASAL2 9462 broad.mit.edu 37 1 178426964 178426964 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr1:178426964G>A uc001glr.2 + 12 2239 c.2114G>A c.(2113-2115)CGG>CAG p.R705Q RASAL2_uc001glq.2_Missense_Mutation_p.R846Q|RASAL2_uc009wxc.2_Missense_Mutation_p.R219Q NM_004841 NP_004832 Q9UJF2 NGAP_HUMAN RAS protein activator like 2 isoform 1 705 negative regulation of Ras protein signal transduction|signal transduction cytoplasm|intrinsic to internal side of plasma membrane Ras GTPase activator activity ovary(2)|breast(2)|large_intestine(1) 5 CCTAATGGTCGGAGCGTCTCC 0.493000 HMCN1 83872 broad.mit.edu 37 1 186092180 186092180 + Silent SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr1:186092180C>T uc001grq.1 + 81 12556 c.12327C>T c.(12325-12327)GAC>GAT p.D4109D NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 4109 Ig-like C2-type 40. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 CTCCGCCTGACATTACATGGC 0.502000 NID1 4811 broad.mit.edu 37 1 236205258 236205258 + Missense_Mutation SNP G G T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr1:236205258G>T uc001hxo.2 - 4 1189 c.1087C>A c.(1087-1089)CAG>AAG p.Q363K NID1_uc009xgd.2_Missense_Mutation_p.Q363K NM_002508 NP_002499 P14543 NID1_HUMAN nidogen 1 precursor 363 cell-matrix adhesion basement membrane calcium ion binding large_intestine(1)|pancreas(1) 2 Ovarian(103;0.0544)|Breast(184;0.23) all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229) OV - Ovarian serous cystadenocarcinoma(106;0.00162) Becaplermin(DB00102)|Urokinase(DB00013) TGAGGGTGCTGCTGGTGAAAA 0.542000 GRID1 2894 broad.mit.edu 37 10 88123850 88123850 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr10:88123850G>A uc001kdl.1 - 2 184 c.83C>T c.(82-84)GCC>GTC p.A28V GRID1_uc009xsu.1_RNA NM_017551 NP_060021 Q9ULK0 GRID1_HUMAN glutamate receptor, ionotropic, delta 1 28 Extracellular (Potential). cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity ovary(5)|upper_aerodigestive_tract(2)|large_intestine(2)|central_nervous_system(1) 10 L-Glutamic Acid(DB00142) CTCGAAGATGGCACCTGGAGG 0.602000 Multiple Myeloma(13;0.14) TACC2 10579 broad.mit.edu 37 10 123976316 123976316 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr10:123976316G>A uc001lfv.2 + 11 7879 c.7519G>A c.(7519-7521)GAG>AAG p.E2507K TACC2_uc001lfw.2_Missense_Mutation_p.E653K|TACC2_uc009xzx.2_Missense_Mutation_p.E2462K|TACC2_uc010qtv.1_Missense_Mutation_p.E2511K|TACC2_uc001lfx.2_Missense_Mutation_p.E211K|TACC2_uc001lfy.2_Missense_Mutation_p.E207K|TACC2_uc001lfz.2_Missense_Mutation_p.E585K|TACC2_uc001lga.2_Missense_Mutation_p.E585K|TACC2_uc009xzy.2_Missense_Mutation_p.E597K|TACC2_uc001lgb.2_Missense_Mutation_p.E542K|TACC2_uc010qtw.1_Missense_Mutation_p.E602K NM_206862 NP_996744 O95359 TACC2_HUMAN transforming, acidic coiled-coil containing 2507 microtubule organizing center|nucleus nuclear hormone receptor binding ovary(4)|breast(3)|skin(2)|central_nervous_system(1) 10 all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197) CTTTGTAAACGAGACCAAATT 0.582000 DMBT1 1755 broad.mit.edu 37 10 124402642 124402642 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr10:124402642G>A uc001lgk.1 + 53 7076 c.6970G>A c.(6970-6972)GTG>ATG p.V2324M DMBT1_uc001lgl.1_Missense_Mutation_p.V2314M|DMBT1_uc001lgm.1_Missense_Mutation_p.V1696M|DMBT1_uc009xzz.1_Missense_Mutation_p.V2323M|DMBT1_uc010qtx.1_Missense_Mutation_p.V1044M|DMBT1_uc009yab.1_Missense_Mutation_p.V1027M|DMBT1_uc009yac.1_Missense_Mutation_p.V618M NM_007329 NP_015568 Q9UGM3 DMBT1_HUMAN deleted in malignant brain tumors 1 isoform b 2324 ZP. epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding central_nervous_system(7) 7 all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238) TTCCAGATGCGTGAGGGATGA 0.567000 OR5L1 219437 broad.mit.edu 37 11 55579431 55579431 + Silent SNP T T C TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr11:55579431T>C uc001nhw.1 + 1 489 c.489T>C c.(487-489)GCT>GCC p.A163A NM_001004738 NP_001004738 Q8NGL2 OR5L1_HUMAN olfactory receptor, family 5, subfamily L, 163 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(3)|ovary(2) 5 all_epithelial(135;0.208) TGTGCTTAGCTCTTAGGATCC 0.443000 RSF1 51773 broad.mit.edu 37 11 77386245 77386245 + Missense_Mutation SNP G G A rs149460903 by1000genomes TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr11:77386245G>A uc001oyn.2 - 14 3518 c.3398C>T c.(3397-3399)CCG>CTG p.P1133L RSF1_uc001oym.2_Missense_Mutation_p.P881L NM_016578 NP_057662 Q96T23 RSF1_HUMAN remodeling and spacing factor 1 1133 CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent RSF complex histone binding|protein binding|zinc ion binding ovary(2)|central_nervous_system(2) 4 all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152) Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31) ATTAGATGGCGGATCTTCTTC 0.448000 KCNA1 3736 broad.mit.edu 37 12 5021267 5021267 + Silent SNP C C T rs147731985 TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr12:5021267C>T uc001qnh.2 + 2 1828 c.723C>T c.(721-723)TTC>TTT p.F241F NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 241 Helical; Name=Segment S2; (Potential). synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity p.F241F(1) ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) TGCGCTTCTTCGCCTGCCCCA 0.493000 PEX5 5830 broad.mit.edu 37 12 7361645 7361645 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr12:7361645G>A uc009zfu.1 + 15 2019 c.1439G>A c.(1438-1440)CGG>CAG p.R480Q PEX5_uc001qsw.2_Missense_Mutation_p.R480Q|PEX5_uc010sgc.1_Missense_Mutation_p.R495Q|PEX5_uc001qsu.2_Missense_Mutation_p.R443Q|PEX5_uc010sgd.1_Missense_Mutation_p.R501Q|PEX5_uc001qsv.2_Missense_Mutation_p.R472Q NM_001131026 NP_001124498 P50542 PEX5_HUMAN peroxisomal biogenesis factor 5 isoform d 480 TPR 4. protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport cytosol|peroxisomal matrix|peroxisomal membrane peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding ovary(1) 1 GCAGCTGTGCGGCTGGACCCT 0.502000 PLXNC1 10154 broad.mit.edu 37 12 94654549 94654549 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr12:94654549G>A uc001tdc.2 + 20 3632 c.3383G>A c.(3382-3384)CGC>CAC p.R1128H PLXNC1_uc010sut.1_Missense_Mutation_p.R175H|PLXNC1_uc009zsv.2_5'Flank NM_005761 NP_005752 O60486 PLXC1_HUMAN plexin C1 precursor 1128 Cytoplasmic (Potential). axon guidance|cell adhesion integral to membrane|intracellular|plasma membrane receptor activity|receptor binding ovary(2)|central_nervous_system(1) 3 ATGCTGAGACGCACGGAGTCC 0.522000 NBEA 26960 broad.mit.edu 37 13 36241608 36241608 + Silent SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr13:36241608C>T uc001uvb.2 + 56 8705 c.8499C>T c.(8497-8499)AGC>AGT p.S2833S NBEA_uc010abi.2_Silent_p.S1491S|NBEA_uc010tef.1_Silent_p.S626S|NBEA_uc001uvd.2_Silent_p.S411S NM_015678 NP_056493 Q8NFP9 NBEA_HUMAN neurobeachin 2833 cytosol|endomembrane system|plasma membrane|trans-Golgi network protein binding ovary(9)|large_intestine(2) 11 Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207) all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199) CTGTCTCCAGCGAAGGCCACT 0.468000 MYCBP2 23077 broad.mit.edu 37 13 77780921 77780921 + Silent SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr13:77780921C>T uc001vkf.2 - 25 3433 c.3342G>A c.(3340-3342)GCG>GCA p.A1114A MYCBP2_uc010aev.2_Silent_p.A518A NM_015057 NP_055872 O75592 MYCB2_HUMAN MYC binding protein 2 1114 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus ligase activity|protein binding|zinc ion binding ovary(4)|breast(4)|skin(3)|lung(2)|pancreas(1) 14 Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22) GBM - Glioblastoma multiforme(99;0.109) CAGCAACCACCGCATTGTAAC 0.428000 PPP2R5C 5527 broad.mit.edu 37 14 102349871 102349871 + Missense_Mutation SNP A A G TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr14:102349871A>G uc001yko.2 + 5 741 c.601A>G c.(601-603)AGA>GGA p.R201G PPP2R5C_uc010txr.1_Missense_Mutation_p.R232G|PPP2R5C_uc001ykk.2_Missense_Mutation_p.R256G|PPP2R5C_uc010txt.1_Missense_Mutation_p.R191G|PPP2R5C_uc001ykn.2_Missense_Mutation_p.R201G|PPP2R5C_uc001ykp.2_Missense_Mutation_p.R201G|PPP2R5C_uc001ykq.2_Missense_Mutation_p.R99G|uc001ykr.1_5'Flank NM_002719 NP_002710 Q13362 2A5G_HUMAN gamma isoform of regulatory subunit B56, protein 201 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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction chromosome, centromeric region|nucleus|protein phosphatase type 2A complex protein binding|protein binding|protein phosphatase type 2A regulator activity|protein phosphatase type 2A regulator activity ovary(1)|breast(1) 2 AGCTTACATCAGAAAACAGAT 0.433000 UNC45A 55898 broad.mit.edu 37 15 91491480 91491480 + Silent SNP G G A rs139418696 by1000genomes TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr15:91491480G>A uc002bqg.2 + 12 2044 c.1704G>A c.(1702-1704)GCG>GCA p.A568A UNC45A_uc002bqd.2_Silent_p.A553A|UNC45A_uc010uqr.1_5'UTR|UNC45A_uc002bqi.2_5'Flank NM_018671 NP_061141 Q9H3U1 UN45A_HUMAN smooth muscle cell associated protein-1 isoform 568 cell differentiation|muscle organ development nucleus|perinuclear region of cytoplasm protein binding ovary(2) 2 Lung NSC(78;0.0771)|all_lung(78;0.137) Lung(145;0.189) TGGAGGATGCGGCTGCTCTGA 0.582000 HS3ST2 9956 broad.mit.edu 37 16 22926408 22926408 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr16:22926408G>A uc002dli.2 + 2 701 c.629G>A c.(628-630)CGT>CAT p.R210H HS3ST2_uc002dlj.2_RNA NM_006043 NP_006034 Q9Y278 HS3S2_HUMAN heparan sulfate D-glucosaminyl 210 PAPS and substrate (By similarity).|Lumenal (Potential). Golgi membrane|integral to membrane [heparan sulfate]-glucosamine 3-sulfotransferase 2 activity ovary(1)|pancreas(1) 2 GBM - Glioblastoma multiforme(48;0.0299) CCTGTGACCCGTGCCATCTCT 0.587000 SALL1 6299 broad.mit.edu 37 16 51174297 51174297 + Silent SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr16:51174297G>A uc010vgs.1 - 2 1867 c.1836C>T c.(1834-1836)GCC>GCT p.A612A SALL1_uc010vgr.1_Silent_p.A515A|SALL1_uc010cbv.2_Intron NM_002968 NP_002959 Q9NSC2 SALL1_HUMAN sal-like 1 isoform a 612 adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development chromocenter|cytoplasm|heterochromatin|nucleus beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding skin(5)|ovary(3) 8 all_cancers(37;0.0322) COAD - Colon adenocarcinoma(2;0.24) TGGACCCTTCGGCTTCCTCTG 0.622000 CDH1 999 broad.mit.edu 37 16 68842699 68842699 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr16:68842699G>A uc002ewg.1 + 5 759 c.635G>A c.(634-636)GGA>GAA p.G212E CDH1_uc010vlj.1_RNA|CDH1_uc010cfg.1_Missense_Mutation_p.G212E NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein 212 Cadherin 1.|Extracellular (Potential). adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding breast(148)|stomach(71)|biliary_tract(8)|endometrium(3)|soft_tissue(2)|large_intestine(2)|urinary_tract(2)|oesophagus(2)|ovary(2)|thyroid(1)|central_nervous_system(1)|lung(1) 243 all_neural(199;0.0189)|Ovarian(137;0.0563) Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261) AGAGAAACAGGATGGCTGAAG 0.463000 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer VAT1L 57687 broad.mit.edu 37 16 77918562 77918562 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr16:77918562G>A uc002ffg.1 + 7 1037 c.940G>A c.(940-942)GCG>ACG p.A314T NM_020927 NP_065978 Q9HCJ6 VAT1L_HUMAN vesicle amine transport protein 1 homolog (T. 314 oxidoreductase activity|zinc ion binding central_nervous_system(1) 1 CAAAGTCATCGCGGGGTTTTC 0.502000 GP1BA 2811 broad.mit.edu 37 17 4835962 4835962 + Missense_Mutation SNP G G T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr17:4835962G>T uc010vsq.1 + 2 138 c.63G>T c.(61-63)GAG>GAT p.E21D uc002fzn.1_RNA NM_000173 NP_000164 P07359 GP1BA_HUMAN platelet glycoprotein Ib alpha polypeptide 21 0 CCATCTGTGAGGTCTCCAAAG 0.592000 DNAH9 1770 broad.mit.edu 37 17 11651040 11651040 + Silent SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr17:11651040G>A uc002gne.2 + 32 6635 c.6567G>A c.(6565-6567)GAG>GAA p.E2189E DNAH9_uc010coo.2_Silent_p.E1483E NM_001372 NP_001363 Q9NYC9 DYH9_HUMAN dynein, axonemal, heavy chain 9 isoform 2 2189 AAA 2 (By similarity). cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity skin(10)|ovary(4)|breast(3)|central_nervous_system(2)|pancreas(1) 20 Breast(5;0.0122)|all_epithelial(5;0.131) Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157) CAAATGATGAGCTCTTTGGCA 0.527000 MYO1D 4642 broad.mit.edu 37 17 30932222 30932222 + Missense_Mutation SNP A A G TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr17:30932222A>G uc002hho.1 - 21 2759 c.2747T>C c.(2746-2748)CTT>CCT p.L916P MYO1D_uc002hhp.1_Missense_Mutation_p.L916P NM_015194 NP_056009 O94832 MYO1D_HUMAN myosin ID 916 myosin complex actin binding|ATP binding|calmodulin binding large_intestine(1)|ovary(1)|central_nervous_system(1) 3 BRCA - Breast invasive adenocarcinoma(9;0.0362) GAACACTACAAGTTGGTCCTT 0.403000 KRT16 3868 broad.mit.edu 37 17 39767374 39767374 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr17:39767374C>T uc002hxg.3 - 4 1019 c.880G>A c.(880-882)GAG>AAG p.E294K JUP_uc010wfs.1_Intron NM_005557 NP_005548 P08779 K1C16_HUMAN keratin 16 294 Rod.|Coil 2. cell proliferation|epidermis development intermediate filament protein binding|structural constituent of cytoskeleton skin(1) 1 Breast(137;0.000307) GCCATCTGCTCGTACTGGTCA 0.617000 OSBPL7 114881 broad.mit.edu 37 17 45894030 45894030 + Missense_Mutation SNP A A T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr17:45894030A>T uc002ilx.1 - 10 1030 c.827T>A c.(826-828)CTG>CAG p.L276Q OSBPL7_uc002ilw.1_5'UTR NM_145798 NP_665741 Q9BZF2 OSBL7_HUMAN oxysterol-binding protein-like protein 7 276 lipid transport lipid binding 0 GTAGCGAGACAGGTTGGGAAC 0.647000 TANC2 26115 broad.mit.edu 37 17 61498701 61498701 + Missense_Mutation SNP C C G TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr17:61498701C>G uc002jal.3 + 25 5381 c.5358C>G c.(5356-5358)AGC>AGG p.S1786R TANC2_uc010wpe.1_3'UTR|TANC2_uc002jao.3_Missense_Mutation_p.S897R NM_025185 NP_079461 Q9HCD6 TANC2_HUMAN tetratricopeptide repeat, ankyrin repeat and 1786 binding ovary(2) 2 CTCCATCTAGCAATAGTATCT 0.517000 CD7 924 broad.mit.edu 37 17 80274701 80274701 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr17:80274701G>A uc002kel.1 - 2 348 c.239C>T c.(238-240)ACG>ATG p.T80M CD7_uc010din.2_Missense_Mutation_p.T80M|CD7_uc002kem.2_Silent_p.Y61Y|CD7_uc010wvk.1_Missense_Mutation_p.T80M NM_006137 NP_006128 P09564 CD7_HUMAN CD7 antigen precursor 80 Ig-like.|Extracellular (Probable). immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway integral to membrane|membrane fraction|plasma membrane receptor activity 0 Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249) OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667) CCGTCTGTCCGTAGTGGGCAC 0.637000 MALT1 10892 broad.mit.edu 37 18 56376637 56376637 + Missense_Mutation SNP A A C rs149988025 TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr18:56376637A>C uc002lhm.1 + 5 935 c.677A>C c.(676-678)AAG>ACG p.K226T MALT1_uc002lhn.1_Missense_Mutation_p.K226T NM_006785 NP_006776 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma 226 Ig-like C2-type 2. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity ovary(2)|lung(1)|central_nervous_system(1) 4 TCTGAATCCAAGTTGCAAATC 0.358000 T BIRC3 MALT MALT1 10892 broad.mit.edu 37 18 56376642 56376642 + Nonsense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr18:56376642C>T uc002lhm.1 + 5 940 c.682C>T c.(682-684)CAA>TAA p.Q228* MALT1_uc002lhn.1_Nonsense_Mutation_p.Q228* NM_006785 NP_006776 Q9UDY8 MALT1_HUMAN mucosa associated lymphoid tissue lymphoma 228 Ig-like C2-type 2. activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway CBM complex|cytosol|nucleus|perinuclear region of cytoplasm cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity ovary(2)|lung(1)|central_nervous_system(1) 4 ATCCAAGTTGCAAATCTGTGT 0.358000 T BIRC3 MALT RLN3 117579 broad.mit.edu 37 19 14139122 14139122 + Missense_Mutation SNP G G A rs141631429 TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr19:14139122G>A uc002mxw.1 + 1 106 c.106G>A c.(106-108)GGC>AGC p.G36S RLN3_uc010dzj.1_Missense_Mutation_p.G36S NM_080864 NP_543140 Q8WXF3 REL3_HUMAN relaxin 3 preproprotein 36 extracellular region hormone activity 0 CAGGCTTTGCGGCCGAGAATT 0.662000 MLL4 9757 broad.mit.edu 37 19 36221615 36221615 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr19:36221615C>T uc010eei.2 + 27 5284 c.5284C>T c.(5284-5286)CGT>TGT p.R1762C NM_014727 NP_055542 Q9UMN6 MLL4_HUMAN myeloid/lymphoid or mixed-lineage leukemia 4 1762 FYR N-terminal. chromatin-mediated maintenance of transcription DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1) 11 all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) CAGGTGCTCCCGTCTGTACTG 0.612000 PSG8 440533 broad.mit.edu 37 19 43262204 43262204 + Missense_Mutation SNP C C T rs139399276 byFrequency TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr19:43262204C>T uc002ouo.2 - 3 757 c.659G>A c.(658-660)CGG>CAG p.R220Q PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Intron|PSG8_uc010eim.2_RNA|PSG8_uc002oui.2_Missense_Mutation_p.R59Q|PSG8_uc002ouh.2_Missense_Mutation_p.R220Q|PSG8_uc010ein.2_Missense_Mutation_p.R98Q|PSG8_uc002ouj.3_Intron|PSG8_uc002ouk.3_Missense_Mutation_p.R59Q|PSG8_uc002oul.3_Missense_Mutation_p.R220Q|PSG8_uc002oum.3_Intron|PSG1_uc002oun.2_Intron|PSG8_uc002oup.3_Intron NM_182707 NP_874366 Q9UQ74 PSG8_HUMAN pregnancy specific beta-1-glycoprotein 8 isoform 220 Ig-like C2-type 1. extracellular region 0 Prostate(69;0.00899) CACTGGGTTCCGTATTTCACA 0.507000 CRX 1406 broad.mit.edu 37 19 48343048 48343048 + Missense_Mutation SNP G G A rs61748459 byFrequency TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr19:48343048G>A uc002phq.3 + 4 928 c.724G>A c.(724-726)GTG>ATG p.V242M NM_000554 NP_000545 O43186 CRX_HUMAN cone-rod homeobox protein 242 V -> M (in CORD2). organ morphogenesis|response to stimulus|visual perception leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity breast(1)|central_nervous_system(1) 2 all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133) OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521) TGGCCCCTCCGTGGGACCTTC 0.652000 AURKC 6795 broad.mit.edu 37 19 57743416 57743416 + Silent SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr19:57743416C>T uc002qoe.2 + 3 309 c.120C>T c.(118-120)GTC>GTT p.V40V AURKC_uc002qoc.2_Silent_p.V21V|AURKC_uc002qod.2_Silent_p.V6V|AURKC_uc010etv.2_Silent_p.V37V NM_001015878 NP_001015878 Q9UQB9 AURKC_HUMAN aurora kinase C isoform 1 40 cell cycle|cytokinesis condensed chromosome|cytoplasm|midbody|spindle midzone ATP binding|protein serine/threonine kinase activity lung(4)|ovary(2) 6 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122) GCCTCACAGTCGATGACTTTG 0.562000 LTBP1 4052 broad.mit.edu 37 2 33572560 33572560 + Missense_Mutation SNP G G A rs139673362 TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr2:33572560G>A uc002ros.2 + 26 3986 c.3986G>A c.(3985-3987)CGC>CAC p.R1329H LTBP1_uc002rot.2_Missense_Mutation_p.R1003H|LTBP1_uc002rou.2_Missense_Mutation_p.R1002H|LTBP1_uc002rov.2_Missense_Mutation_p.R949H|LTBP1_uc010ymz.1_Missense_Mutation_p.R960H|LTBP1_uc010yna.1_Missense_Mutation_p.R907H|LTBP1_uc010ynb.1_Missense_Mutation_p.R226H NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1328 EGF-like 14; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GGGCAGTGCCGCTCCCGGACC 0.567000 LHCGR 3973 broad.mit.edu 37 2 48915521 48915521 + Missense_Mutation SNP A A G TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr2:48915521A>G uc002rwu.3 - 11 1485 c.1415T>C c.(1414-1416)ATT>ACT p.I472T GTF2A1L_uc002rwt.2_Intron NM_000233 NP_000224 P22888 LSHR_HUMAN luteinizing hormone/choriogonadotropin receptor 472 Cytoplasmic (Potential). male genitalia development|male gonad development endosome|integral to plasma membrane luteinizing hormone receptor activity ovary(3)|lung(2)|breast(2)|skin(1) 8 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176) Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151) Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032) GTCCAGGTGAATAGCATAGGT 0.463000 Familial_Male-Limited_Precocious_Puberty LRRTM1 347730 broad.mit.edu 37 2 80529646 80529646 + Missense_Mutation SNP C C A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr2:80529646C>A uc002sok.1 - 2 1569 c.1299G>T c.(1297-1299)ATG>ATT p.M433I CTNNA2_uc010yse.1_Intron|CTNNA2_uc010ysf.1_Intron|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysh.1_Intron|CTNNA2_uc010ysi.1_5'Flank|LRRTM1_uc002soj.3_RNA NM_178839 NP_849161 Q86UE6 LRRT1_HUMAN leucine rich repeat transmembrane neuronal 1 433 Helical; (Potential). axon|endoplasmic reticulum membrane|growth cone|integral to membrane ovary(3)|upper_aerodigestive_tract(1)|skin(1) 5 AGATGAGGGCCATGGTGCCCG 0.627000 HNSCC(69;0.2) CTNNA2 1496 broad.mit.edu 37 2 80835315 80835315 + Missense_Mutation SNP G G T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr2:80835315G>T uc010ysh.1 + 16 2307 c.2302G>T c.(2302-2304)GAT>TAT p.D768Y CTNNA2_uc010yse.1_Missense_Mutation_p.D768Y|CTNNA2_uc010ysf.1_Missense_Mutation_p.D768Y|CTNNA2_uc010ysg.1_Intron|CTNNA2_uc010ysi.1_Missense_Mutation_p.D400Y|CTNNA2_uc010ysj.1_Missense_Mutation_p.D97Y NM_004389 NP_004380 P26232 CTNA2_HUMAN catenin, alpha 2 isoform 1 768 axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity actin cytoskeleton|axon|cytosol cadherin binding|structural constituent of cytoskeleton pancreas(4)|lung(3)|breast(1)|skin(1) 9 ATAGTGTCCTGATTCAGCATG 0.368000 RAPGEF4 11069 broad.mit.edu 37 2 173679118 173679118 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr2:173679118C>T uc002uhv.3 + 4 596 c.409C>T c.(409-411)CGC>TGC p.R137C RAPGEF4_uc002uhu.2_Missense_Mutation_p.R137C|RAPGEF4_uc010fqn.2_Missense_Mutation_p.R120C NM_007023 NP_008954 Q8WZA2 RPGF4_HUMAN Rap guanine nucleotide exchange factor (GEF) 4 137 cAMP 1. blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cAMP-dependent protein kinase complex|membrane fraction|plasma membrane cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity large_intestine(2)|skin(2)|kidney(1)|central_nervous_system(1) 6 OV - Ovarian serous cystadenocarcinoma(117;0.194) TGAACTGCTCCGCATCGAGCA 0.522000 TTN 7273 broad.mit.edu 37 2 179429737 179429737 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr2:179429737G>A uc010zfg.1 - 275 73642 c.73418C>T c.(73417-73419)ACG>ATG p.T24473M uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.T18168M|TTN_uc010zfi.1_Missense_Mutation_p.T18101M|TTN_uc010zfj.1_Missense_Mutation_p.T17976M NM_133378 NP_596869 Q8WZ42 TITIN_HUMAN titin isoform N2-A 25400 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) CTGGTACTCCGTGCCTGTTTT 0.393000 ANKRD44 91526 broad.mit.edu 37 2 197878392 197878392 + Silent SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr2:197878392C>T uc002uua.1 - 18 1769 c.1692G>A c.(1690-1692)TCG>TCA p.S564S ANKRD44_uc002utz.3_Silent_p.S296S NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 589 ANK 17. protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) GGTCCACCAACGACTGCAGAA 0.532000 C2orf80 389073 broad.mit.edu 37 2 209047703 209047703 + Silent SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr2:209047703C>T uc002vcr.2 - 4 364 c.192G>A c.(190-192)CTG>CTA p.L64L NM_001099334 NP_001092804 Q0P641 CB080_HUMAN hypothetical protein LOC389073 64 skin(1) 1 CCTCCCACTCCAGCCAAGTTA 0.453000 TTLL9 164395 broad.mit.edu 37 20 30521649 30521649 + Silent SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr20:30521649C>T uc010gdx.1 + 11 1048 c.795C>T c.(793-795)TAC>TAT p.Y265Y TTLL9_uc002wwy.1_RNA|TTLL9_uc002wwz.1_RNA|TTLL9_uc002wxa.1_RNA|TTLL9_uc002wxb.1_RNA|TTLL9_uc010zto.1_RNA|TTLL9_uc002wxc.2_Silent_p.Y167Y|TTLL9_uc010ztp.1_RNA|TTLL9_uc010ztq.1_RNA NM_001008409 NP_001008409 Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 265 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity ovary(2) 2 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CTCCCGACTACCACCCAAAGA 0.612000 TIAM1 7074 broad.mit.edu 37 21 32492758 32492758 + Silent SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr21:32492758G>A uc002yow.1 - 29 5176 c.4704C>T c.(4702-4704)AGC>AGT p.S1568S TIAM1_uc011adk.1_3'UTR|TIAM1_uc011adl.1_Silent_p.S1508S NM_003253 NP_003244 Q13009 TIAM1_HUMAN T-cell lymphoma invasion and metastasis 1 1568 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 CCTCGCTTGCGCTCTCCAGGC 0.577000 PDE9A 5152 broad.mit.edu 37 21 44151921 44151921 + Missense_Mutation SNP G G T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr21:44151921G>T uc002zbm.2 + 5 367 c.304G>T c.(304-306)GCT>TCT p.A102S PDE9A_uc002zbn.2_Intron|PDE9A_uc002zbo.2_Intron|PDE9A_uc002zbp.2_5'UTR|PDE9A_uc002zbq.2_Intron|PDE9A_uc002zbs.2_Intron|PDE9A_uc002zbr.2_Intron|PDE9A_uc002zbt.2_Intron|PDE9A_uc002zbu.2_Intron|PDE9A_uc002zbv.2_Intron|PDE9A_uc002zbw.2_Intron|PDE9A_uc002zbx.2_Intron|PDE9A_uc002zby.2_Intron|PDE9A_uc002zbz.2_Intron|PDE9A_uc002zca.2_Missense_Mutation_p.A61S|PDE9A_uc002zcb.2_Missense_Mutation_p.A76S|PDE9A_uc002zcc.2_Intron|PDE9A_uc002zcd.2_Intron|PDE9A_uc002zce.2_Missense_Mutation_p.A35S|PDE9A_uc002zcf.2_5'UTR|PDE9A_uc002zcg.2_Intron|PDE9A_uc002zch.2_5'UTR NM_002606 NP_002597 O76083 PDE9A_HUMAN phosphodiesterase 9A isoform a 102 platelet activation|signal transduction cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane 3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding ovary(1)|skin(1) 2 TGGCCAGTCTGCTGAGAGACC 0.567000 AGPAT3 56894 broad.mit.edu 37 21 45390580 45390580 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr21:45390580G>A uc002zdv.2 + 6 779 c.557G>A c.(556-558)CGC>CAC p.R186H AGPAT3_uc002zdw.2_Missense_Mutation_p.R186H|AGPAT3_uc002zdx.2_Missense_Mutation_p.R273H|AGPAT3_uc002zdy.2_Missense_Mutation_p.R124H NM_020132 NP_064517 Q9NRZ7 PLCC_HUMAN 1-acylglycerol-3-phosphate O-acyltransferase 3 186 Lumenal (Potential). phospholipid biosynthetic process endoplasmic reticulum membrane|integral to membrane|plasma membrane 1-acylglycerol-3-phosphate O-acyltransferase activity 0 STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24) ACCAAGCACCGCGTTAGCATG 0.622000 HIRA 7290 broad.mit.edu 37 22 19349416 19349416 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr22:19349416C>T uc002zpf.1 - 16 2034 c.1814G>A c.(1813-1815)CGA>CAA p.R605Q HIRA_uc011agx.1_Missense_Mutation_p.R471Q|HIRA_uc010grn.1_Intron|HIRA_uc010gro.1_Missense_Mutation_p.R561Q|HIRA_uc010grp.2_RNA NM_003325 NP_003316 P54198 HIRA_HUMAN HIR histone cell cycle regulation defective 605 Interaction with CCNA1.|Interaction with PAX3 (By similarity).|Interaction with histone H2B. chromatin modification|regulation of transcription from RNA polymerase II promoter PML body chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity ovary(1) 1 Colorectal(54;0.0993) CAGGAGGTCTCGGGGCCTCAG 0.378000 PLA2G3 50487 broad.mit.edu 37 22 31536082 31536082 + Missense_Mutation SNP A A G TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr22:31536082A>G uc003aka.2 - 1 388 c.259T>C c.(259-261)TGT>CGT p.C87R NM_015715 NP_056530 Q9NZ20 PA2G3_HUMAN phospholipase A2, group III precursor 87 cilium morphogenesis|lipid catabolic process|phospholipid metabolic process centriole|extracellular space|plasma membrane calcium ion binding|calcium-dependent phospholipase A2 activity 0 TCATGAGCACAGAGAGCACCG 0.642000 C3orf20 84077 broad.mit.edu 37 3 14731512 14731512 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr3:14731512G>A uc003byy.2 + 5 1038 c.634G>A c.(634-636)GCA>ACA p.A212T C3orf20_uc003byz.2_Missense_Mutation_p.A90T|C3orf20_uc003bza.2_Missense_Mutation_p.A90T|C3orf20_uc003byx.1_Missense_Mutation_p.A212T NM_032137 NP_115513 Q8ND61 CC020_HUMAN hypothetical protein LOC84077 212 cytoplasm|integral to membrane ovary(3)|skin(1) 4 AGAGTCCCTCGCAAACATGTC 0.433000 CTNNB1 1499 broad.mit.edu 37 3 41277254 41277254 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr3:41277254G>A uc010hia.1 + 12 1879 c.1723G>A c.(1723-1725)GGA>AGA p.G575R CTNNB1_uc003ckp.2_Missense_Mutation_p.G575R|CTNNB1_uc003ckq.2_Missense_Mutation_p.G575R|CTNNB1_uc003ckr.2_Missense_Mutation_p.G575R|CTNNB1_uc011azf.1_Missense_Mutation_p.G568R|CTNNB1_uc011azg.1_Missense_Mutation_p.G503R|CTNNB1_uc003cks.2_3'UTR|CTNNB1_uc003ckt.1_Missense_Mutation_p.G10R NM_001904 NP_001895 P35222 CTNB1_HUMAN beta-catenin 575 adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding CTNNB1/PLAG1(60) liver(806)|soft_tissue(609)|large_intestine(243)|endometrium(222)|kidney(172)|stomach(157)|central_nervous_system(139)|ovary(104)|skin(97)|pancreas(91)|adrenal_gland(85)|pituitary(81)|salivary_gland(62)|haematopoietic_and_lymphoid_tissue(57)|thyroid(55)|biliary_tract(41)|lung(38)|prostate(24)|bone(20)|small_intestine(17)|cervix(9)|parathyroid(9)|urinary_tract(8)|breast(7)|oesophagus(5)|NS(3)|pleura(2)|upper_aerodigestive_tract(2)|eye(1) 3166 KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294) Lithium(DB01356) AGGTTGTACCGGAGCCCTTCA 0.433000 15 H|Mis|T PLAG1 colorectal|cvarian| hepatoblastoma|others|pleomorphic salivary adenoma Pilomatrixoma_Familial_Clustering_of NBEAL2 23218 broad.mit.edu 37 3 47049627 47049627 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr3:47049627G>A uc003cqp.2 + 50 7849 c.7670G>A c.(7669-7671)AGC>AAC p.S2557N NBEAL2_uc010hjm.1_Missense_Mutation_p.S1934N|NBEAL2_uc010hjn.1_Missense_Mutation_p.S923N|NBEAL2_uc010hjo.1_Missense_Mutation_p.S117N NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN neurobeachin-like 2 2557 WD 4. binding ovary(1) 1 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GCTGCAGTGAGCTGTGTGGCC 0.592000 RHOA 387 broad.mit.edu 37 3 49412898 49412898 + Missense_Mutation SNP T T C TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr3:49412898T>C uc003cwu.2 - 2 401 c.125A>G c.(124-126)TAT>TGT p.Y42C RHOA_uc010hku.2_5'UTR NM_001664 NP_001655 P61586 RHOA_HUMAN ras homolog gene family, member A precursor 42 Effector region (Potential). axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) ATCTGCCACATAGTTCTCAAA 0.433000 LRIG1 26018 broad.mit.edu 37 3 66457882 66457882 + Silent SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr3:66457882G>A uc003dmx.2 - 8 983 c.969C>T c.(967-969)GAC>GAT p.D323D LRIG1_uc003dmw.2_5'Flank|LRIG1_uc010hnz.2_Silent_p.D63D|LRIG1_uc010hoa.2_Silent_p.D323D NM_015541 NP_056356 Q96JA1 LRIG1_HUMAN leucine-rich repeats and immunoglobulin-like 323 Extracellular (Potential).|LRR 11. integral to membrane skin(3)|ovary(2) 5 Lung NSC(201;0.0101) BRCA - Breast invasive adenocarcinoma(55;0.00047) GGCTCTCCTCGTCCAGCCGTG 0.612000 OREG0015662 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) KLHL24 54800 broad.mit.edu 37 3 183368716 183368716 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr3:183368716C>T uc003flv.2 + 3 867 c.572C>T c.(571-573)GCG>GTG p.A191V KLHL24_uc003flw.2_Missense_Mutation_p.A191V|KLHL24_uc003flx.2_Missense_Mutation_p.A191V NM_017644 NP_060114 Q6TFL4 KLH24_HUMAN DRE1 protein 191 BACK. axon|cytoplasm|perikaryon ovary(1) 1 all_cancers(143;2.88e-10)|Ovarian(172;0.0303) all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22) AAAAATTTTGCGTTACAGACT 0.368000 ECE2 9718 broad.mit.edu 37 3 184005662 184005662 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr3:184005662C>T uc003fni.3 + 11 1693 c.1655C>T c.(1654-1656)ACG>ATG p.T552M ECE2_uc011brh.1_Missense_Mutation_p.T405M|ECE2_uc003fnl.3_Missense_Mutation_p.T480M|ECE2_uc003fnm.3_Missense_Mutation_p.T434M|ECE2_uc003fnk.3_Missense_Mutation_p.T405M|ECE2_uc011bri.1_Missense_Mutation_p.T467M|ECE2_uc010hxv.2_Missense_Mutation_p.T196M NM_014693 NP_055508 O60344 ECE2_HUMAN endothelin converting enzyme 2 isoform A 552 Lumenal (Potential).|Endothelin-converting enzyme 2 region. brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing cytoplasmic vesicle membrane|Golgi membrane|integral to membrane metal ion binding|metalloendopeptidase activity|methyltransferase activity ovary(2)|skin(2) 4 all_cancers(143;1.39e-10)|Ovarian(172;0.0339) Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) ATCTCCAACACGGATGACGCC 0.527000 PCYT1A 5130 broad.mit.edu 37 3 195974306 195974306 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr3:195974306G>A uc003fwg.2 - 6 591 c.418C>T c.(418-420)CGC>TGC p.R140C PCYT1A_uc003fwh.2_Missense_Mutation_p.R140C NM_005017 NP_005008 P49585 PCY1A_HUMAN choline phosphate cytidylyltransferase 1 alpha 140 Catalytic (Potential). cytosol|soluble fraction choline-phosphate cytidylyltransferase activity 0 all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06) GBM - Glioblastoma multiforme(46;0.00259) Choline(DB00122) TCCACGTAGCGGCAGTGCTGG 0.537000 ADAMTS3 9508 broad.mit.edu 37 4 73164020 73164020 + Missense_Mutation SNP G G C TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr4:73164020G>C uc003hgk.1 - 18 2601 c.2564C>G c.(2563-2565)TCT>TGT p.S855C ADAMTS3_uc003hgl.2_Missense_Mutation_p.S196C NM_014243 NP_055058 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 855 TSP type-1 2. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding ovary(1)|lung(1) 2 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) GGAACACTGAGACCAGCTCTT 0.363000 PRKG2 5593 broad.mit.edu 37 4 82125924 82125924 + Missense_Mutation SNP G G A rs147037183 byFrequency TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr4:82125924G>A uc003hmh.2 - 1 292 c.278C>T c.(277-279)CCG>CTG p.P93L PRKG2_uc011cch.1_Missense_Mutation_p.P93L NM_006259 NP_006250 Q13237 KGP2_HUMAN protein kinase, cGMP-dependent, type II 93 platelet activation|signal transduction cytosol ATP binding|cGMP binding|cGMP-dependent protein kinase activity breast(3)|central_nervous_system(2)|ovary(1)|large_intestine(1) 7 GGCCTGAAGCGGGCTTCCTCC 0.557000 TACR3 6870 broad.mit.edu 37 4 104640553 104640553 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr4:104640553C>T uc003hxe.1 - 1 423 c.280G>A c.(280-282)GTG>ATG p.V94M NM_001059 NP_001050 P29371 NK3R_HUMAN tachykinin receptor 3 94 Helical; Name=1; (Potential). integral to plasma membrane tachykinin receptor activity ovary(3)|lung(2)|breast(1)|skin(1) 7 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) GCCACCACCACACCATACGCC 0.612000 PCDH10 57575 broad.mit.edu 37 4 134072680 134072680 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr4:134072680G>A uc003iha.2 + 1 2211 c.1385G>A c.(1384-1386)CGT>CAT p.R462H uc003igy.2_5'Flank|PCDH10_uc003igz.2_Missense_Mutation_p.R462H NM_032961 NP_116586 Q9P2E7 PCD10_HUMAN protocadherin 10 isoform 1 precursor 462 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2) 2 LUSC - Lung squamous cell carcinoma(193;0.227) AACGCGCCGCGTTTCAGCCAG 0.617000 DNAH5 1767 broad.mit.edu 37 5 13776589 13776589 + Missense_Mutation SNP A A G TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr5:13776589A>G uc003jfd.2 - 55 9374 c.9332T>C c.(9331-9333)ATT>ACT p.I3111T NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 3111 AAA 4 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) GAACCAGTCAATTGTGCATCC 0.453000 Kartagener_syndrome DMXL1 1657 broad.mit.edu 37 5 118469231 118469231 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr5:118469231G>A uc003ksd.2 + 12 1793 c.1612G>A c.(1612-1614)GAT>AAT p.D538N DMXL1_uc010jcl.1_Missense_Mutation_p.D538N|DMXL1_uc003ksc.1_Missense_Mutation_p.D538N NM_005509 NP_005500 Q9Y485 DMXL1_HUMAN Dmx-like 1 538 ovary(2) 2 all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231) OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243) CCCCACAGGTGATGCAAACTC 0.393000 PCDHAC1 56135 broad.mit.edu 37 5 140307641 140307641 + Silent SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr5:140307641G>A uc003lih.2 + 1 1340 c.1164G>A c.(1162-1164)ACG>ACA p.T388T PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Intron|PCDHA13_uc003lif.2_Intron|PCDHAC1_uc003lig.1_Silent_p.T388T NM_018898 NP_061721 Q9H158 PCDC1_HUMAN protocadherin alpha subfamily C, 1 isoform 1 388 Cadherin 4.|Extracellular (Potential). homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding skin(3)|ovary(2) 5 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TTCAGCTGACGGCTTCCTTTG 0.507000 PCDHB16 57717 broad.mit.edu 37 5 140564164 140564164 + Missense_Mutation SNP C C G TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr5:140564164C>G uc003liv.2 + 1 3185 c.2030C>G c.(2029-2031)GCC>GGC p.A677G PCDHB9_uc003liw.1_5'Flank NM_020957 NP_066008 Q9NRJ7 PCDBG_HUMAN protocadherin beta 16 precursor 677 Extracellular (Potential). calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to membrane|plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCAGAGGCGGCCCCCGGCCAG 0.682000 GCM2 9247 broad.mit.edu 37 6 10876693 10876693 + Silent SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr6:10876693G>A uc003mzn.3 - 3 513 c.441C>T c.(439-441)AAC>AAT p.N147N SYCP2L_uc011dim.1_Intron NM_004752 NP_004743 O75603 GCM2_HUMAN glial cells missing homolog 2 147 GCM. cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus metal ion binding|sequence-specific DNA binding ovary(2)|central_nervous_system(1) 3 Breast(50;0.0838)|Ovarian(93;0.107) all_hematologic(90;0.135) AAAAGATCGCGTTGCCATCAA 0.498000 THEMIS 387357 broad.mit.edu 37 6 128134866 128134866 + Missense_Mutation SNP A A G TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr6:128134866A>G uc003qbi.2 - 5 1239 c.920T>C c.(919-921)ATT>ACT p.I307T THEMIS_uc010kfa.2_Missense_Mutation_p.I210T|THEMIS_uc011ebt.1_Missense_Mutation_p.I307T|THEMIS_uc010kfb.2_Missense_Mutation_p.I272T NM_001010923 NP_001010923 Q8N1K5 THMS1_HUMAN thymocyte selection pathway associated isoform 307 CABIT 2. negative T cell selection|positive T cell selection|T cell receptor signaling pathway cytoplasm|nucleus ovary(2)|skin(2) 4 GTGGATCACAATGGTTTTCCC 0.408000 GRM1 2911 broad.mit.edu 37 6 146755675 146755675 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr6:146755675G>A uc010khw.1 + 9 3798 c.3328G>A c.(3328-3330)GTG>ATG p.V1110M GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR NM_000838 NP_000829 Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 isoform alpha 1110 Asp/Glu-rich (acidic).|Cytoplasmic (Potential). synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity lung(8)|ovary(4)|central_nervous_system(3)|large_intestine(2)|breast(2) 19 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) CCAGGAGTACGTGTATGAGCA 0.627000 ESR1 2099 broad.mit.edu 37 6 152265479 152265479 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr6:152265479C>T uc003qom.3 + 6 1302 c.932C>T c.(931-933)ACG>ATG p.T311M ESR1_uc010kin.2_Missense_Mutation_p.T311M|ESR1_uc010kio.2_Missense_Mutation_p.T313M|ESR1_uc010kip.2_Missense_Mutation_p.T310M|ESR1_uc003qon.3_Missense_Mutation_p.T311M|ESR1_uc003qoo.3_Missense_Mutation_p.T311M|ESR1_uc010kiq.2_Intron|ESR1_uc010kir.2_Intron|ESR1_uc011eet.1_Intron|ESR1_uc011eeu.1_Intron|ESR1_uc011eev.1_Intron|ESR1_uc011eew.1_Intron|ESR1_uc010kis.2_Intron|ESR1_uc011eex.1_Missense_Mutation_p.T92M|ESR1_uc010kit.1_Missense_Mutation_p.T48M|ESR1_uc011eey.1_Missense_Mutation_p.T48M NM_001122742 NP_001116214 P03372 ESR1_HUMAN estrogen receptor alpha isoform 4 311 Steroid-binding.|Interaction with AKAP13. positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus chromatin remodeling complex|cytoplasm|nucleoplasm beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding central_nervous_system(2)|ovary(1)|lung(1)|breast(1) 5 Ovarian(120;0.0448) BRCA - Breast invasive adenocarcinoma(37;0.0841) OV - Ovarian serous cystadenocarcinoma(155;4.55e-10) Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539) TTGTCCCTGACGGCCGACCAG 0.557000 RABL5 64792 broad.mit.edu 37 7 100959744 100959744 + Missense_Mutation SNP G G A rs140464086 byFrequency TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr7:100959744G>A uc003uyl.2 - 4 389 c.286C>T c.(286-288)CGG>TGG p.R96W RABL5_uc011kkk.1_Missense_Mutation_p.R19W|RABL5_uc011kkl.1_Missense_Mutation_p.R19W|RABL5_uc003uym.2_Missense_Mutation_p.R66W|RABL5_uc010lhw.2_RNA|RABL5_uc011kkm.1_Missense_Mutation_p.R96W NM_022777 NP_073614 Q9H7X7 RABL5_HUMAN RAB, member RAS oncogene family-like 5 isoform 96 GTP binding 0 Lung NSC(181;0.215) ATTTCCTTCCGGTGGCTTGGG 0.517000 NEFL 4747 broad.mit.edu 37 8 24811294 24811294 + Silent SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr8:24811294G>A uc003xee.2 - 3 1287 c.1185C>T c.(1183-1185)GGC>GGT p.G395G NM_006158 NP_006149 P07196 NFL_HUMAN neurofilament, light polypeptide 68kDa 395 Rod.|Coil 2B. anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission cytosol|neurofilament identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton ovary(1)|central_nervous_system(1) 2 Ovarian(32;0.00965)|Prostate(55;0.157) UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375) GGGTCTCCTCGCCTTCCAAGA 0.527000 KCNV1 27012 broad.mit.edu 37 8 110986297 110986297 + Silent SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr8:110986297C>T uc003ynr.3 - 1 663 c.321G>A c.(319-321)TCG>TCA p.S107S KCNV1_uc010mcw.2_Silent_p.S107S NM_014379 NP_055194 Q6PIU1 KCNV1_HUMAN potassium channel, subfamily V, member 1 107 Cytoplasmic (Potential). voltage-gated potassium channel complex ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity lung(1)|kidney(1) 2 all_neural(195;0.219) OV - Ovarian serous cystadenocarcinoma(57;5.35e-13) GGAACGCCTGCGAGCTGCGGT 0.662000 CSMD3 114788 broad.mit.edu 37 8 113564865 113564865 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr8:113564865C>T uc003ynu.2 - 26 4478 c.4319G>A c.(4318-4320)CGT>CAT p.R1440H CSMD3_uc003yns.2_Missense_Mutation_p.R712H|CSMD3_uc003ynt.2_Missense_Mutation_p.R1400H|CSMD3_uc011lhx.1_Missense_Mutation_p.R1336H NM_198123 NP_937756 Q7Z407 CSMD3_HUMAN CUB and Sushi multiple domains 3 isoform 1 1440 Extracellular (Potential).|CUB 8. integral to membrane|plasma membrane ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1) 63 CCACATGCAACGCAGGTTATT 0.378000 HNSCC(6;0.00088)|TCGA Ovarian(7;0.080) ZHX2 22882 broad.mit.edu 37 8 123965143 123965143 + Missense_Mutation SNP G G T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr8:123965143G>T uc003ypk.1 + 3 1960 c.1393G>T c.(1393-1395)GAC>TAC p.D465Y NM_014943 NP_055758 Q9Y6X8 ZHX2_HUMAN zinc fingers and homeoboxes 2 465 Required for interaction with NFYA.|Homeobox 2. cytoplasm|nucleus|plasma membrane protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1)|skin(1) 2 Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105) STAD - Stomach adenocarcinoma(47;0.00527) CCAGTTCCCTGACGATGCCGA 0.572000 TMEFF1 8577 broad.mit.edu 37 9 103279048 103279048 + Silent SNP T T C TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr9:103279048T>C uc004baz.1 + 5 665 c.555T>C c.(553-555)AAT>AAC p.N185N TMEFF1_uc004bay.1_Silent_p.N259N NM_003692 NP_003683 Q8IYR6 TEFF1_HUMAN transmembrane protein with EGF-like and two 185 Kazal-like 2.|Extracellular (Potential). multicellular organismal development integral to membrane|plasma membrane 0 Acute lymphoblastic leukemia(62;0.0452) ATGCAGAAAATGTTGGGTGAG 0.398000 TNC 3371 broad.mit.edu 37 9 117849383 117849383 + Silent SNP G G A rs138151398 TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr9:117849383G>A uc004bjj.3 - 3 989 c.627C>T c.(625-627)GAC>GAT p.D209D TNC_uc010mvf.2_Silent_p.D209D NM_002160 NP_002151 P24821 TENA_HUMAN tenascin C precursor 209 EGF-like 2. 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 CCGTGAAGCCGTCGTCACAGA 0.602000 ZNF79 7633 broad.mit.edu 37 9 130206310 130206310 + Missense_Mutation SNP T T C TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr9:130206310T>C uc004bqw.3 + 5 745 c.331T>C c.(331-333)TGG>CGG p.W111R ZNF79_uc011maf.1_Missense_Mutation_p.W87R|ZNF79_uc011mag.1_Missense_Mutation_p.W87R NM_007135 NP_009066 Q15937 ZNF79_HUMAN zinc finger protein 79 111 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1) 1 TTTTTCAGGCTGGAAGATTAT 0.483000 AKAP4 8852 broad.mit.edu 37 X 49958235 49958235 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chrX:49958235C>T uc004dow.1 - 5 1253 c.1129G>A c.(1129-1131)GAG>AAG p.E377K AKAP4_uc004dov.1_Intron|AKAP4_uc010njp.1_Missense_Mutation_p.E199K|AKAP4_uc004dou.1_Missense_Mutation_p.E368K NM_003886 NP_003877 Q5JQC9 AKAP4_HUMAN A-kinase anchor protein 4 isoform 1 377 cell projection organization|single fertilization|sperm motility cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum protein kinase A binding kidney(3)|central_nervous_system(2)|ovary(1)|lung(1)|skin(1) 8 Ovarian(276;0.236) GACACAATCTCCTTGGTGTGC 0.463000 TRO 7216 broad.mit.edu 37 X 54956240 54956240 + Missense_Mutation SNP G G T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chrX:54956240G>T uc004dtq.2 + 12 3190 c.3083G>T c.(3082-3084)GGT>GTT p.G1028V TRO_uc004dts.2_Intron|TRO_uc004dtr.2_Intron|TRO_uc004dtt.2_Intron|TRO_uc004dtu.2_Intron|TRO_uc004dtv.2_Intron|TRO_uc011mok.1_Missense_Mutation_p.G559V|TRO_uc004dtw.2_Missense_Mutation_p.G631V|TRO_uc004dtx.2_Missense_Mutation_p.G411V NM_001039705 NP_001034794 Q12816 TROP_HUMAN trophinin isoform 5 1028 62 X 10 AA approximate tandem repeats.|22; approximate. embryo implantation|homophilic cell adhesion integral to plasma membrane ovary(1) 1 ACCAATGCTGGTTATGGTGGT 0.547000 AMOT 154796 broad.mit.edu 37 X 112035098 112035098 + Nonsense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chrX:112035098G>A uc004epr.2 - 6 1888 c.1888C>T c.(1888-1890)CGA>TGA p.R630* AMOT_uc004eps.2_Nonsense_Mutation_p.R221* NM_001113490 NP_001106962 Q4VCS5 AMOT_HUMAN angiomotin isoform 1 630 Potential. actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction|tight junction angiostatin binding|protein binding|receptor activity ovary(1) 1 CTCTCCAGTCGTGTCCGGAGA 0.483000 THOC2 57187 broad.mit.edu 37 X 122755146 122755146 + Missense_Mutation SNP C C G TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chrX:122755146C>G uc004etu.2 - 31 4110 c.4078G>C c.(4078-4080)GAG>CAG p.E1360Q THOC2_uc010nqt.1_RNA|THOC2_uc004etw.1_Missense_Mutation_p.E181Q NM_001081550 NP_001075019 Q8NI27 THOC2_HUMAN THO complex 2 1360 Lys-rich. intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing THO complex part of transcription export complex protein binding|RNA binding ovary(3) 3 GGCTCCTTCTCTCTTTCCCTT 0.368000 DCAF12L2 340578 broad.mit.edu 37 X 125299117 125299117 + Missense_Mutation SNP T T C TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chrX:125299117T>C uc004euk.1 - 1 818 c.791A>G c.(790-792)AAG>AGG p.K264R NM_001013628 NP_001013650 Q5VW00 DC122_HUMAN DDB1 and CUL4 associated factor 12-like 2 264 WD 3. lung(2)|skin(2)|large_intestine(1)|pancreas(1)|ovary(1) 7 GGCCCGTACCTTGCGGTTGCT 0.637000 GPR101 83550 broad.mit.edu 37 X 136113194 136113194 + Missense_Mutation SNP C C T TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chrX:136113194C>T uc011mwh.1 - 1 640 c.640G>A c.(640-642)GTG>ATG p.V214M NM_054021 NP_473362 Q96P66 GP101_HUMAN G protein-coupled receptor 101 214 Helical; Name=5; (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(3)|lung(1)|skin(1) 5 Acute lymphoblastic leukemia(192;0.000127) CAGAACACCACGGAGTAGCAG 0.537000 PLXNB3 5365 broad.mit.edu 37 X 153043007 153043007 + Missense_Mutation SNP G G A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chrX:153043007G>A uc004fii.2 + 31 5299 c.5125G>A c.(5125-5127)GAC>AAC p.D1709N PLXNB3_uc010nuk.2_Missense_Mutation_p.D1732N|PLXNB3_uc011mzd.1_Missense_Mutation_p.D1348N|SRPK3_uc004fik.2_5'UTR NM_005393 NP_005384 Q9ULL4 PLXB3_HUMAN plexin B3 isoform 1 1709 Cytoplasmic (Potential). axon guidance integral to membrane|intracellular|plasma membrane protein binding|receptor activity lung(1) 1 all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05) GTTTGTGGACGACACCTTCCA 0.627000 MECP2 4204 broad.mit.edu 37 X 153297980 153297980 + Missense_Mutation SNP G G C rs61754425 TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chrX:153297980G>C uc004fjv.2 - 3 281 c.55C>G c.(55-57)CAG>GAG p.Q19E MECP2_uc004fjw.2_Missense_Mutation_p.Q31E NM_004992 NP_004983 P51608 MECP2_HUMAN methyl CpG binding protein 2 isoform 1 19 negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent heterochromatin|nucleus double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity 0 all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) TTGAGGCCCTGGAGGTCCTGG 0.478000 ARID1A 8289 broad.mit.edu 37 1 27106498 27106499 + Frame_Shift_Ins INS - - C TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr1:27106497_27106498A>AC uc001bmv.1 + 19 6481_6482 c.6108_6109A>AC c.(6106-6111)gaacagfs p.E2036fs ARID1A_uc001bmu.1_Frame_Shift_Ins_p.E1819fs|ARID1A_uc001bmx.1_Frame_Shift_Ins_p.E882fs|ARID1A_uc009vsm.1_Frame_Shift_Ins_p.E364fs|ARID1A_uc009vsn.1_Frame_Shift_Ins_p.E278fs NM_006015 NP_006006 O14497 ARI1A_HUMAN Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA. 2036 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex DNA binding|protein binding p.Q2037*(2)|p.E2036*(1) ARID1A/MAST2_ENST00000361297(2) NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24) 411 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) AGGAGGAGGAACAGGACCAAGG 0.564 """Mis, N, F, S, D""" """clear cell ovarian carcinoma, RCC""" PPM1D 8493 broad.mit.edu 37 17 58740624 58740625 + Frame_Shift_Ins INS - - A TCGA-BR-4188-01A-01D-1126-08 TCGA-BR-4188-11A-01D-1126-08 Untested Somatic Phase_I WXS none Illumina GAIIx b1006a43-c576-49f4-aa45-1ab5dfc3b0e4 5719f03a-27b7-4219-b949-38b4d2a86977 g.chr17:58740623_58740624C>CA uc002iyt.2 + 5 1760_1761 c.1528_1529C>CA c.(1528-1530)caafs p.Q510fs PPM1D_uc010ddm.2_Non-coding_Transcript NM_003620 NP_003611 O15297 PPM1D_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA. 510 negative regulation of cell proliferation|protein dephosphorylation|response to radiation nucleus|protein serine/threonine phosphatase complex metal ion binding|protein binding|protein serine/threonine phosphatase activity p.N512fs*2(1) haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 15 all_neural(34;0.0878)|Medulloblastoma(34;0.0922) Epithelial(12;6.75e-12)|all cancers(12;1.96e-10) TGTCATGGACCAAAAAAATTTG 0.376 OREG0031485 type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)