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 IFI44L 10964 broad.mit.edu 37 1 79102793 79102793 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr1:79102793G>A uc010oro.1 + 6 1132 c.953G>A c.(952-954)TGT>TAT p.C318Y IFI44L_uc010orp.1_Missense_Mutation_p.C55Y|IFI44L_uc010orq.1_Missense_Mutation_p.C55Y NM_006820 NP_006811 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 318 cytoplasm 0 AGGATTCACTGTGTGGCTTAT 0.363000 BCL10 8915 broad.mit.edu 37 1 85736384 85736384 + Missense_Mutation SNP C C T rs147850504 TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr1:85736384C>T uc001dkz.2 - 3 968 c.263G>A c.(262-264)CGA>CAA p.R88Q NM_003921 NP_003912 O95999 BCL10_HUMAN B-cell CLL/lymphoma 10 88 CARD. apoptosis|cellular response to mechanical stimulus|innate immune response|interleukin-6 biosynthetic process|lymphotoxin A biosynthetic process|negative regulation of mature B cell apoptosis|neural tube closure|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 biosynthetic process|positive regulation of mast cell cytokine production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of transcription, DNA-dependent|protein homooligomerization|response to molecule of bacterial origin|T cell receptor signaling pathway CBM complex|cytosol|lysosome|membrane raft|nucleus|perinuclear region of cytoplasm NF-kappaB binding|protease binding|protein C-terminus binding|protein kinase B binding|protein self-association|transcription coactivator activity|ubiquitin binding|ubiquitin protein ligase binding lung(2) 2 all cancers(265;0.0114)|Epithelial(280;0.0311) TGTTTTTTCTCGCCGAATAGA 0.348000 T IGH@ MALT CELSR2 1952 broad.mit.edu 37 1 109794776 109794776 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr1:109794776G>A uc001dxa.3 + 1 2136 c.2075G>A c.(2074-2076)CGG>CAG p.R692Q NM_001408 NP_001399 Q9HCU4 CELR2_HUMAN cadherin EGF LAG seven-pass G-type receptor 2 692 Cadherin 5.|Extracellular (Potential). dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway cytoplasm|integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(4)|lung(3)|skin(1) 8 all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244) Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219) GATGGCACTCGGCAGGACACG 0.557000 HIPK1 204851 broad.mit.edu 37 1 114483281 114483281 + Silent SNP G G T rs145171448 byFrequency TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr1:114483281G>T uc001eem.2 + 2 437 c.276G>T c.(274-276)TCG>TCT p.S92S HIPK1_uc001eel.2_Silent_p.S92S|HIPK1_uc001een.2_Silent_p.S92S NM_198268 NP_938009 Q86Z02 HIPK1_HUMAN homeodomain-interacting protein kinase 1 isoform 92 regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus ATP binding|protein binding|protein serine/threonine kinase activity ovary(4) 4 Lung SC(450;0.184) all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) CTGATAGCTCGGGCAGTGCTG 0.502000 HMCN1 83872 broad.mit.edu 37 1 185988786 185988786 + Missense_Mutation SNP A A C rs147131235 TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr1:185988786A>C uc001grq.1 + 35 5813 c.5584A>C c.(5584-5586)AAA>CAA p.K1862Q NM_031935 NP_114141 Q96RW7 HMCN1_HUMAN hemicentin 1 precursor 1862 Ig-like C2-type 16. response to stimulus|visual perception basement membrane calcium ion binding ovary(22)|skin(1) 23 TACATGGTTAAAAGATGACCA 0.423000 KCNT2 343450 broad.mit.edu 37 1 196398803 196398803 + Silent SNP A A T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr1:196398803A>T uc001gtd.1 - 9 783 c.723T>A c.(721-723)TCT>TCA p.S241S KCNT2_uc009wyt.1_RNA|KCNT2_uc001gte.1_Silent_p.S241S|KCNT2_uc001gtf.1_Silent_p.S241S|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.2_Silent_p.S241S|KCNT2_uc009wyv.1_Silent_p.S216S NM_198503 NP_940905 Q6UVM3 KCNT2_HUMAN potassium channel, subfamily T, member 2 241 voltage-gated potassium channel complex ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity ovary(5)|breast(1)|skin(1) 7 AGCCCACAGTAGAAAACGTCA 0.413000 IGFN1 91156 broad.mit.edu 37 1 201195249 201195249 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr1:201195249G>A uc001gwc.2 + 11 3036 c.2264G>A c.(2263-2265)CGC>CAC p.R755H IGFN1_uc001gwb.2_RNA NM_178275 NP_840059 RecName: Full=Immunoglobulin-like and fibronectin type III domain-containing protein 1; AltName: Full=EEF1A2-binding protein 1; AltName: Full=KY-interacting protein 1; ovary(2)|pancreas(1) 3 CCCCGGCAGCGCGGTAAGCAG 0.662000 C1orf58 148362 broad.mit.edu 37 1 222892355 222892355 + Missense_Mutation SNP T T C TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr1:222892355T>C uc001hnq.1 + 3 585 c.190T>C c.(190-192)TAT>CAT p.Y64H C1orf58_uc010put.1_Missense_Mutation_p.Y64H|C1orf58_uc010puu.1_Missense_Mutation_p.Y64H|C1orf58_uc010puv.1_Missense_Mutation_p.Y64H NM_144695 NP_653296 Q5VW32 BROX_HUMAN Bro1-domain-containing protein 64 membrane 0 GBM - Glioblastoma multiforme(131;0.0667) AGCAGATTCATATTTCTCACT 0.318000 PTCHD3 374308 broad.mit.edu 37 10 27702994 27702994 + Silent SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr10:27702994C>T uc001itu.2 - 1 304 c.186G>A c.(184-186)TCG>TCA p.S62S NM_001034842 NP_001030014 Q3KNS1 PTHD3_HUMAN patched domain containing 3 62 spermatid development integral to membrane hedgehog receptor activity ovary(2)|pancreas(1)|skin(1) 4 CATCCTGCTCCGACGCCAGGG 0.697000 MUC6 4588 broad.mit.edu 37 11 1031906 1031906 + Missense_Mutation SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr11:1031906C>T uc001lsw.2 - 3 314 c.263G>A c.(262-264)CGA>CAA p.R88Q NM_005961 NP_005952 Q6W4X9 MUC6_HUMAN mucin 6, gastric 88 VWFD 1. maintenance of gastrointestinal epithelium extracellular region extracellular matrix structural constituent ovary(1) 1 all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703) GTCTGGGCCTCGCCGCAGCTG 0.622000 FCHSD2 9873 broad.mit.edu 37 11 72695249 72695249 + Silent SNP G G T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr11:72695249G>T uc009ytl.2 - 8 810 c.589C>A c.(589-591)CGA>AGA p.R197R FCHSD2_uc010rrg.1_Silent_p.R37R|FCHSD2_uc001oth.3_Silent_p.R141R|FCHSD2_uc001oti.2_Silent_p.R156R NM_014824 NP_055639 O94868 FCSD2_HUMAN FCH and double SH3 domains 2 197 protein binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(5;3.3e-05) CACTCAGATCGCCGGGCTTTT 0.378000 FAT3 120114 broad.mit.edu 37 11 92616530 92616530 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr11:92616530G>A uc001pdj.3 + 23 12925 c.12908G>A c.(12907-12909)CGG>CAG p.R4303Q FAT3_uc001pdi.3_Missense_Mutation_p.R743Q NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 4303 Cytoplasmic (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) GACTCCATCCGGAAGAATGGC 0.672000 TCGA Ovarian(4;0.039) ENDOD1 23052 broad.mit.edu 37 11 94861549 94861549 + Silent SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr11:94861549C>T uc001pfh.2 + 2 384 c.309C>T c.(307-309)GAC>GAT p.D103D NM_015036 NP_055851 O94919 ENDD1_HUMAN endonuclease domain containing 1 precursor 103 extracellular region endonuclease activity|metal ion binding|nucleic acid binding 0 Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824) AGATCGATGACCCCAACAGCA 0.507000 ATN1 1822 broad.mit.edu 37 12 7045235 7045235 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr12:7045235G>A uc001qrw.1 + 5 1042 c.805G>A c.(805-807)GGT>AGT p.G269S ATN1_uc001qrx.1_Missense_Mutation_p.G269S|ATN1_uc001qry.1_Missense_Mutation_p.G268S NM_001007026 NP_001007027 P54259 ATN1_HUMAN atrophin-1 269 cell death|central nervous system development cytoplasm|nucleus protein domain specific binding ovary(2)|breast(2)|pancreas(1)|skin(1) 6 TGGGGCTAGTGGTGCTCCCCC 0.622000 DPF3 8110 broad.mit.edu 37 14 73190342 73190342 + Missense_Mutation SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr14:73190342C>T uc001xnc.2 - 5 537 c.524G>A c.(523-525)CGG>CAG p.R175Q DPF3_uc001xnd.1_RNA|DPF3_uc001xnf.2_RNA|DPF3_uc010ari.1_Missense_Mutation_p.R175Q|DPF3_uc010ttq.1_Missense_Mutation_p.R185Q NM_012074 NP_036206 Q92784 DPF3_HUMAN D4, zinc and double PHD fingers, family 3 175 chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nBAF complex nucleic acid binding|zinc ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654) CCAACTTACCCGTCCTCTAGT 0.478000 C14orf102 55051 broad.mit.edu 37 14 90767687 90767687 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr14:90767687G>A uc001xyi.1 - 7 1472 c.1441C>T c.(1441-1443)CGG>TGG p.R481W C14orf102_uc010atp.1_5'UTR|C14orf102_uc001xyj.1_Missense_Mutation_p.R250W NM_017970 NP_060440 Q9H7Z3 CN102_HUMAN hypothetical protein LOC55051 isoform 1 481 protein binding ovary(2)|lung(1) 3 all_cancers(154;0.118) COAD - Colon adenocarcinoma(157;0.218) CCAGCCTGCCGCAGAAAGTGG 0.517000 PML 5371 broad.mit.edu 37 15 74325745 74325745 + Silent SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr15:74325745C>T uc002awv.2 + 6 1787 c.1647C>T c.(1645-1647)GCC>GCT p.A549A PML_uc002awm.2_Silent_p.A549A|PML_uc002awl.2_Intron|PML_uc002awj.1_Silent_p.A501A|PML_uc002awk.2_Silent_p.A549A|PML_uc002awn.2_Silent_p.A549A|PML_uc002awo.2_Silent_p.A501A|PML_uc002awp.2_Intron|PML_uc002awq.2_Silent_p.A549A|PML_uc002awr.2_Silent_p.A549A|PML_uc002aws.2_Silent_p.A501A|PML_uc002awt.2_Intron|PML_uc002awu.2_Silent_p.A501A|PML_uc010ule.1_Silent_p.A110A|PML_uc002awx.2_Silent_p.A259A|PML_uc002awy.2_5'UTR NM_033238 NP_150241 P29590 PML_HUMAN promyelocytic leukemia protein isoform 1 549 cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body cobalt ion binding|DNA binding|protein binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding|zinc ion binding central_nervous_system(2)|kidney(2)|breast(1) 5 CCAGTGGCGCCGGGGAGGCAG 0.662000 T RARA|PAX5 APL|ALL C16orf71 146562 broad.mit.edu 37 16 4797531 4797531 + Missense_Mutation SNP G G T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr16:4797531G>T uc002cxn.2 + 9 1930 c.1468G>T c.(1468-1470)GCT>TCT p.A490S NM_139170 NP_631909 Q8IYS4 CP071_HUMAN hypothetical protein LOC146562 490 central_nervous_system(1) 1 GAGCGCCCAGGCTCGACTCCC 0.657000 NLRC5 84166 broad.mit.edu 37 16 57059473 57059473 + Silent SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr16:57059473C>T uc002ekk.1 + 6 843 c.618C>T c.(616-618)GAC>GAT p.D206D NLRC5_uc010ccq.1_RNA|NLRC5_uc002ekn.2_Silent_p.D11D|NLRC5_uc002ekl.2_Silent_p.D11D|NLRC5_uc002ekm.2_Silent_p.D11D|NLRC5_uc010ccr.1_RNA NM_032206 NP_115582 Q86WI3 NLRC5_HUMAN nucleotide-binding oligomerization domains 27 206 defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity cytosol|nucleus ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding ovary(4)|skin(2)|breast(1) 7 all_neural(199;0.225) ATGGTGCTGACGTGAGCATCT 0.612000 GPR114 221188 broad.mit.edu 37 16 57609350 57609350 + Missense_Mutation SNP G G T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr16:57609350G>T uc002elx.3 + 12 1572 c.1487G>T c.(1486-1488)GGT>GTT p.G496V GPR114_uc010vhr.1_3'UTR|GPR114_uc002ely.2_Missense_Mutation_p.G496V NM_153837 NP_722579 Q8IZF4 GP114_HUMAN G protein-coupled receptor 114 precursor 496 Helical; Name=7; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1) 1 TCTCTTGCAGGTTTCTTCCTT 0.617000 GEMIN4 50628 broad.mit.edu 37 17 649304 649304 + Missense_Mutation SNP A A C TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr17:649304A>C uc002frs.1 - 2 2098 c.1979T>G c.(1978-1980)TTG>TGG p.L660W NM_015721 NP_056536 P57678 GEMI4_HUMAN gemin 4 660 rRNA processing|spliceosomal snRNP assembly Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex protein binding ovary(2)|kidney(1)|skin(1) 4 Myeloproliferative disorder(207;0.204) UCEC - Uterine corpus endometrioid carcinoma (25;0.022) ATCTAACCTCAAGAAAGGCAG 0.532000 YWHAE 7531 broad.mit.edu 37 17 1264542 1264542 + Missense_Mutation SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr17:1264542C>T uc002fsj.2 - 4 574 c.422G>A c.(421-423)AGG>AAG p.R141K YWHAE_uc002fsk.2_Missense_Mutation_p.R119K|YWHAE_uc010vqh.1_RNA|YWHAE_uc010vqi.1_Intron NM_006761 NP_006752 P62258 1433E_HUMAN tyrosine 3/tryptophan 5 -monooxygenase 141 apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway cytosol|melanosome histone deacetylase binding|phosphoserine binding lung(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(18;0.203) UCEC - Uterine corpus endometrioid carcinoma (25;0.0887) AGCCTCCTTCCTGTCGTTTCC 0.413000 TP53 7157 broad.mit.edu 37 17 7577121 7577121 + Missense_Mutation SNP G G T rs121913343 TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr17:7577121G>T uc002gim.2 - 8 1011 c.817C>A c.(817-819)CGT>AGT p.R273S TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R273S|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R141S|TP53_uc010cng.1_Missense_Mutation_p.R141S|TP53_uc002gii.1_Missense_Mutation_p.R141S|TP53_uc010cnh.1_Missense_Mutation_p.R273S|TP53_uc010cni.1_Missense_Mutation_p.R273S|TP53_uc002gij.2_Missense_Mutation_p.R273S NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 273 Interaction with DNA.||Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R273H(467)|p.R273C(396)|p.R273L(83)|p.R273P(24)|p.R273S(11)|p.R273G(9)|p.0?(7)|p.R273fs*72(3)|p.?(2)|p.R273fs*33(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273R(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GCACAAACACGCACCTCAAAG 0.542000 R273C(SH10TC_STOMACH)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(RH30_SOFT_TISSUE)|R273C(PANC0213_PANCREAS)|R273C(SJRH30_SOFT_TISSUE)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(TT2609C02_THYROID)|R273C(MFE319_ENDOMETRIUM)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(NCIH1048_LUNG)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE) 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) SLC13A2 9058 broad.mit.edu 37 17 26818792 26818792 + Missense_Mutation SNP T T A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr17:26818792T>A uc002hbh.2 + 6 867 c.800T>A c.(799-801)TTC>TAC p.F267Y SLC13A2_uc010wal.1_Missense_Mutation_p.F224Y|SLC13A2_uc010wam.1_Missense_Mutation_p.F223Y|SLC13A2_uc010wan.1_Missense_Mutation_p.F316Y|SLC13A2_uc010wao.1_Missense_Mutation_p.F224Y|SLC13A2_uc002hbi.2_Missense_Mutation_p.F196Y NM_003984 NP_003975 Q13183 S13A2_HUMAN solute carrier family 13, member 2 isoform b 267 integral to plasma membrane|membrane fraction low affinity sodium:dicarboxylate symporter activity 0 all_lung(13;0.000871)|Lung NSC(42;0.0027) UCEC - Uterine corpus endometrioid carcinoma (53;0.154) Succinic acid(DB00139) GCCTCCTGGTTCAGCTTCGCC 0.582000 RALBP1 10928 broad.mit.edu 37 18 9535916 9535916 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr18:9535916G>A uc002kob.2 + 10 2172 c.1949G>A c.(1948-1950)AGG>AAG p.R650K RALBP1_uc002koc.2_Missense_Mutation_p.R650K NM_006788 NP_006779 Q15311 RBP1_HUMAN ralA binding protein 1 650 chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport cytosol|membrane ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding central_nervous_system(1) 1 AGCAGGGATAGGAAGGAGACG 0.632000 ST8SIA5 29906 broad.mit.edu 37 18 44260212 44260212 + Silent SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr18:44260212C>T uc002lcj.1 - 7 1492 c.924G>A c.(922-924)GCG>GCA p.A308A ST8SIA5_uc002lci.1_Silent_p.A155A|ST8SIA5_uc010xcy.1_Silent_p.A344A|ST8SIA5_uc010xcz.1_Silent_p.A277A NM_013305 NP_037437 O15466 SIA8E_HUMAN ST8 alpha-N-acetyl-neuraminide 308 Lumenal (Potential). glycosphingolipid biosynthetic process|protein glycosylation integral to Golgi membrane upper_aerodigestive_tract(1)|ovary(1)|pancreas(1) 3 GCTCCAGCGCCGCAGTGACCA 0.607000 SYDE1 85360 broad.mit.edu 37 19 15224376 15224376 + Missense_Mutation SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr19:15224376C>T uc002nah.1 + 8 1841 c.1810C>T c.(1810-1812)CGC>TGC p.R604C SYDE1_uc002nai.1_Missense_Mutation_p.R537C|SYDE1_uc002naj.1_Missense_Mutation_p.R261C NM_033025 NP_149014 Q6ZW31 SYDE1_HUMAN synapse defective 1, Rho GTPase, homolog 1 604 Rho-GAP. activation of Rho GTPase activity|small GTPase mediated signal transduction cytosol Rho GTPase activator activity ovary(1)|pancreas(1) 2 TTCAGATCCCCGCCTGCCCCG 0.607000 BCKDHA 593 broad.mit.edu 37 19 41920017 41920017 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr19:41920017G>A uc002oqq.2 + 4 468 c.439G>A c.(439-441)GCC>ACC p.A147T CYP2F1_uc010xvw.1_Intron|BCKDHA_uc002oqm.3_Missense_Mutation_p.A181T|BCKDHA_uc002oqp.1_Missense_Mutation_p.A39T|BCKDHA_uc002oqr.2_Missense_Mutation_p.A147T|BCKDHA_uc010xvz.1_Missense_Mutation_p.A125T NM_000709 NP_000700 P12694 ODBA_HUMAN branched chain keto acid dehydrogenase E1, alpha 147 branched chain family amino acid catabolic process mitochondrial alpha-ketoglutarate dehydrogenase complex 3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding 0 GAGTGCCGCCGCCCTGGACAA 0.607000 NLRP2 55655 broad.mit.edu 37 19 55494535 55494535 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr19:55494535G>A uc002qij.2 + 6 1555 c.1469G>A c.(1468-1470)CGC>CAC p.R490H NLRP2_uc010yfp.1_Missense_Mutation_p.R467H|NLRP2_uc010esn.2_Missense_Mutation_p.R466H|NLRP2_uc010eso.2_Missense_Mutation_p.R487H|NLRP2_uc010esp.2_Missense_Mutation_p.R468H NM_017852 NP_060322 Q9NX02 NALP2_HUMAN NLR family, pyrin domain containing 2 490 NACHT. apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion cytoplasm ATP binding|Pyrin domain binding ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(297;0.163) GBM - Glioblastoma multiforme(193;0.028) GACATCCTCCGCCAGGACAGA 0.602000 ADCY3 109 broad.mit.edu 37 2 25044392 25044392 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr2:25044392G>A uc002rfs.3 - 19 3320 c.3121C>T c.(3121-3123)CGC>TGC p.R1041C ADCY3_uc002rfr.3_Missense_Mutation_p.R628C|ADCY3_uc010ykm.1_Missense_Mutation_p.R1042C NM_004036 NP_004027 O60266 ADCY3_HUMAN adenylate cyclase 3 1041 Cytoplasmic (Potential). activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport cytoplasm|integral to plasma membrane ATP binding|calmodulin binding|metal ion binding breast(3)|ovary(1) 4 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203) TCACCTATGCGCAGCATGAAG 0.617000 CAPN13 92291 broad.mit.edu 37 2 30966280 30966280 + Nonsense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr2:30966280G>A uc002rnn.2 - 12 1590 c.1414C>T c.(1414-1416)CGA>TGA p.R472* CAPN13_uc002rnm.2_RNA|CAPN13_uc002rno.2_Nonsense_Mutation_p.R26* NM_144575 NP_653176 Q6MZZ7 CAN13_HUMAN calpain 13 472 proteolysis intracellular calcium ion binding|calcium-dependent cysteine-type endopeptidase activity large_intestine(1)|ovary(1) 2 all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155) AGGAAGATTCGGAGCAAGAAC 0.408000 UGGT1 56886 broad.mit.edu 37 2 128937376 128937376 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr2:128937376G>A uc002tps.2 + 35 4010 c.3832G>A c.(3832-3834)GTG>ATG p.V1278M UGGT1_uc002tpr.2_Missense_Mutation_p.V1254M NM_020120 NP_064505 Q9NYU2 UGGG1_HUMAN UDP-glucose ceramide glucosyltransferase-like 1 1278 Glucosyltransferase (By similarity). 'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding ovary(1) 1 GATGCTATCCGTGCTGAAGAA 0.373000 CENPB 1059 broad.mit.edu 37 20 3766016 3766016 + Missense_Mutation SNP C C G TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr20:3766016C>G uc002wjk.2 - 1 1322 c.1115G>C c.(1114-1116)TGG>TCG p.W372S CDC25B_uc010zqk.1_5'Flank|CDC25B_uc010zql.1_5'Flank|CDC25B_uc010zqm.1_5'Flank NM_001810 NP_001801 P07199 CENPB_HUMAN centromere protein B 372 regulation of transcription, DNA-dependent chromosome, centromeric region|nucleus chromatin binding|satellite DNA binding 0 CACTGCCTGCCAGGCGGCAGC 0.627000 MYLK2 85366 broad.mit.edu 37 20 30414609 30414609 + Silent SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr20:30414609C>T uc002wwq.2 + 8 1194 c.1092C>T c.(1090-1092)GGC>GGT p.G364G MYLK2_uc002wws.2_5'UTR NM_033118 NP_149109 Q9H1R3 MYLK2_HUMAN skeletal myosin light chain kinase 364 Protein kinase. cardiac muscle tissue morphogenesis|regulation of muscle filament sliding ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity lung(2)|skin(2)|ovary(1)|central_nervous_system(1) 6 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) GCATCGAGGGCGGAGAGCTCT 0.592000 PREX1 57580 broad.mit.edu 37 20 47324856 47324856 + Missense_Mutation SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr20:47324856C>T uc002xtw.1 - 6 748 c.725G>A c.(724-726)CGG>CAG p.R242Q NM_020820 NP_065871 Q8TCU6 PREX1_HUMAN phosphatidylinositol-3,4, 242 actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process cytosol|plasma membrane enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity lung(3)|ovary(2)|pancreas(1) 6 BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198) CTCCATCTGCCGCTTGGTCTC 0.642000 B4GALT5 9334 broad.mit.edu 37 20 48263510 48263510 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr20:48263510G>A uc002xuu.3 - 3 550 c.356C>T c.(355-357)CCT>CTT p.P119L NM_004776 NP_004767 O43286 B4GT5_HUMAN UDP-Gal:betaGlcNAc beta 1,4- 119 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine Golgi cisterna membrane|integral to membrane galactosyltransferase activity|metal ion binding ovary(1) 1 BRCA - Breast invasive adenocarcinoma(9;2.51e-06) ACTCATGGAAGGGAGTCTTTC 0.463000 UFD1L 7353 broad.mit.edu 37 22 19444143 19444143 + Silent SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr22:19444143G>A uc002zpm.2 - 9 775 c.645C>T c.(643-645)GAC>GAT p.D215D UFD1L_uc002zpo.2_Silent_p.D215D|UFD1L_uc011agy.1_Silent_p.D215D|UFD1L_uc002zpp.2_Silent_p.D168D NM_005659 NP_005650 Q92890 UFD1_HUMAN ubiquitin fusion degradation 1-like isoform A 215 skeletal system development|ubiquitin-dependent protein catabolic process cytosol|nucleus protein binding|ubiquitin-specific protease activity 0 Colorectal(54;0.0993) AGCCACTGTGGTCGGCTTCAC 0.567000 SCN10A 6336 broad.mit.edu 37 3 38739948 38739948 + Missense_Mutation SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr3:38739948C>T uc003ciq.2 - 27 4763 c.4763G>A c.(4762-4764)CGA>CAA p.R1588Q NM_006514 NP_006505 Q9Y5Y9 SCNAA_HUMAN sodium channel, voltage-gated, type X, alpha 1588 IV.|Helical; Voltage-sensor; Name=S4 of repeat IV; (Potential). sensory perception voltage-gated sodium channel complex ovary(5)|skin(3)|large_intestine(1)|kidney(1) 10 KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945) Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296) CTTGGCCGCTCGGATCAGTCT 0.517000 CELSR3 1951 broad.mit.edu 37 3 48698891 48698891 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr3:48698891G>A uc003cul.2 - 1 1458 c.1177C>T c.(1177-1179)CGC>TGC p.R393C CELSR3_uc003cuf.1_Missense_Mutation_p.R463C NM_001407 NP_001398 Q9NYQ7 CELR3_HUMAN cadherin EGF LAG seven-pass G-type receptor 3 393 Extracellular (Potential).|Cadherin 1. homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway integral to membrane|plasma membrane calcium ion binding|G-protein coupled receptor activity|protein binding ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ATGCTCTCGCGGTCCAGAGCT 0.672000 SLC4A4 8671 broad.mit.edu 37 4 72313451 72313451 + Splice_Site SNP G G T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr4:72313451G>T uc003hfy.2 + 9 1170 c.1053_splice c.e9+1 p.E351_splice SLC4A4_uc010iic.2_Splice_Site_p.E351_splice|SLC4A4_uc010iib.2_Splice_Site_p.E351_splice|SLC4A4_uc003hfz.2_Splice_Site_p.E351_splice|SLC4A4_uc003hgc.3_Splice_Site_p.E307_splice|SLC4A4_uc010iid.2_Splice_Site|SLC4A4_uc003hga.2_Splice_Site_p.E229_splice|SLC4A4_uc003hgb.3_Splice_Site_p.E307_splice NM_001098484 NP_001091954 Q9Y6R1 S4A4_HUMAN solute carrier family 4, sodium bicarbonate basolateral plasma membrane|integral to plasma membrane inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity ovary(3)|kidney(1)|skin(1) 5 Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225) GTCTGATGAGGTAGGAAATCA 0.418000 LEF1 51176 broad.mit.edu 37 4 109010376 109010376 + Missense_Mutation SNP A A G TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr4:109010376A>G uc003hyt.1 - 4 1107 c.452T>C c.(451-453)GTC>GCC p.V151A LEF1_uc011cfj.1_Missense_Mutation_p.V36A|LEF1_uc011cfk.1_Missense_Mutation_p.V83A|LEF1_uc003hyu.1_Missense_Mutation_p.V151A|LEF1_uc003hyv.1_Missense_Mutation_p.V151A|LEF1_uc010imb.1_RNA NM_016269 NP_057353 Q9UJU2 LEF1_HUMAN lymphoid enhancer-binding factor 1 isoform 1 151 Pro-rich. 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) GAGAGGATGGACCGCATGGGA 0.498000 ODZ3 55714 broad.mit.edu 37 4 183675916 183675916 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr4:183675916G>A uc003ivd.1 + 21 4433 c.4396G>A c.(4396-4398)GCC>ACC p.A1466T ODZ3_uc003ive.1_Missense_Mutation_p.A879T NM_001080477 NP_001073946 Q9P273 TEN3_HUMAN odz, odd Oz/ten-m homolog 3 1466 Extracellular (Potential).|NHL 5. signal transduction integral to membrane 0 all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184) all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487) AGATGGCTACGCCAAGGATGC 0.507000 ADCY2 108 broad.mit.edu 37 5 7766854 7766854 + Missense_Mutation SNP A A G TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr5:7766854A>G uc003jdz.1 + 17 2216 c.2149A>G c.(2149-2151)ACA>GCA p.T717A ADCY2_uc011cmo.1_Missense_Mutation_p.T537A NM_020546 NP_065433 Q08462 ADCY2_HUMAN adenylate cyclase 2 717 activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport cytoplasm|dendrite|integral to membrane|plasma membrane ATP binding|metal ion binding ovary(5)|pancreas(1)|skin(1) 7 CACAACAAACACAAGCTTTTC 0.393000 FBXO4 26272 broad.mit.edu 37 5 41934278 41934278 + Missense_Mutation SNP A A C TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr5:41934278A>C uc003jmq.2 + 5 822 c.766A>C c.(766-768)AAC>CAC p.N256H FBXO4_uc003jmp.2_Missense_Mutation_p.N256H|FBXO4_uc003jmr.2_Missense_Mutation_p.N256H NM_012176 NP_036308 Q9UKT5 FBX4_HUMAN F-box only protein 4 isoform 1 256 positive regulation of protein ubiquitination|protein polyubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|telomere maintenance|ubiquitin-dependent protein catabolic process cytoplasm|SCF ubiquitin ligase complex protein binding|protein homodimerization activity|ubiquitin-protein ligase activity liver(1) 1 Lung NSC(810;4.15e-05)|Breast(839;0.00093)|Ovarian(839;0.00965)|Myeloproliferative disorder(839;0.0255)|all_neural(839;0.0604) AAGTGCAGTTAACAAGATGTT 0.388000 PJA2 9867 broad.mit.edu 37 5 108698688 108698688 + Missense_Mutation SNP C C A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr5:108698688C>A uc003kos.3 - 6 1725 c.1505G>T c.(1504-1506)TGG>TTG p.W502L NM_014819 NP_055634 O43164 PJA2_HUMAN praja 2, RING-H2 motif containing 502 long-term memory|regulation of protein kinase A signaling cascade cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding ovary(1)|skin(1) 2 all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151) OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224) GTACTGTAACCAAGGAATTTC 0.358000 FAT2 2196 broad.mit.edu 37 5 150921854 150921854 + Missense_Mutation SNP T T A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr5:150921854T>A uc003lue.3 - 9 8847 c.8834A>T c.(8833-8835)TAC>TTC p.Y2945F GM2A_uc011dcs.1_Intron NM_001447 NP_001438 Q9NYQ8 FAT2_HUMAN FAT tumor suppressor 2 precursor 2945 Extracellular (Potential).|Cadherin 26. epithelial cell migration|homophilic cell adhesion cell-cell adherens junction|integral to membrane|nucleus calcium ion binding ovary(4)|upper_aerodigestive_tract(1)|skin(1) 6 Medulloblastoma(196;0.0912)|all_hematologic(541;0.104) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) ACCTGTGATGTAGCAGGTGAC 0.453000 EHMT2 10919 broad.mit.edu 37 6 31848468 31848468 + Missense_Mutation SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr6:31848468C>T uc003nxz.1 - 27 3444 c.3434G>A c.(3433-3435)CGG>CAG p.R1145Q EHMT2_uc003nxv.1_Missense_Mutation_p.R184Q|EHMT2_uc003nxw.1_Missense_Mutation_p.R184Q|EHMT2_uc003nxx.1_Missense_Mutation_p.R343Q|EHMT2_uc003nxy.1_Missense_Mutation_p.R943Q|EHMT2_uc011don.1_Missense_Mutation_p.R1168Q|EHMT2_uc003nya.1_Missense_Mutation_p.R1111Q|SLC44A4_uc010jti.2_5'Flank|SLC44A4_uc011dom.1_5'Flank NM_006709 NP_006700 Q96KQ7 EHMT2_HUMAN euchromatic histone-lysine N-methyltransferase 2 1145 SET. DNA methylation|peptidyl-lysine dimethylation chromosome|nucleus histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding ovary(1) 1 CTCCCCAGTCCGGATGTCTCG 0.592000 ZNF76 7629 broad.mit.edu 37 6 35260365 35260365 + Silent SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr6:35260365C>T uc003oki.1 + 10 1171 c.966C>T c.(964-966)TGC>TGT p.C322C ZNF76_uc011dsz.1_Silent_p.C322C|ZNF76_uc003okj.1_Silent_p.C322C NM_003427 NP_003418 P36508 ZNF76_HUMAN zinc finger protein 76 (expressed in testis) 322 C2H2-type 6. regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent nucleus DNA binding|zinc ion binding 0 TGCCAGGCTGCGGGAAACGCT 0.463000 GUCA1A 2978 broad.mit.edu 37 6 42141400 42141400 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr6:42141400G>A uc003orx.2 + 3 694 c.49G>A c.(49-51)GAG>AAG p.E17K GUCA1A_uc011duo.1_RNA|GUCA1A_uc010jxt.2_Missense_Mutation_p.E17K NM_000409 NP_000400 P43080 GUC1A_HUMAN guanylate cyclase activator 1A (retina) 17 EF-hand 1. signal transduction|visual perception membrane calcium ion binding|calcium sensitive guanylate cyclase activator activity 0 Colorectal(47;0.196) STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152) GAGCAGCACCGAGTGCCACCA 0.587000 CDK13 8621 broad.mit.edu 37 7 40134360 40134360 + Silent SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr7:40134360C>T uc003thh.3 + 14 4602 c.4320C>T c.(4318-4320)AGC>AGT p.S1440S CDK13_uc003thi.3_Silent_p.S1380S|CDK13_uc003thj.2_Silent_p.S491S|CDK13_uc003thk.2_Silent_p.S373S NM_003718 NP_003709 Q14004 CDK13_HUMAN cell division cycle 2-like 5 isoform 1 1440 alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity lung(2)|skin(2)|ovary(1) 5 TGGCAAACAGCAGTGACCCTT 0.473000 ASB4 51666 broad.mit.edu 37 7 95157511 95157511 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr7:95157511G>A uc011kij.1 + 3 874 c.874G>A c.(874-876)GTG>ATG p.V292M ASB4_uc003unx.2_Missense_Mutation_p.V292M NM_016116 NP_057200 Q9Y574 ASB4_HUMAN ankyrin repeat and SOCS box-containing protein 4 292 intracellular signal transduction central_nervous_system(1) 1 all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246) STAD - Stomach adenocarcinoma(171;0.0151) CATCCAGTACGTGCTGAAGGT 0.587000 OREG0018172 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) WISP1 8840 broad.mit.edu 37 8 134233084 134233084 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr8:134233084G>A uc003yub.2 + 3 686 c.610G>A c.(610-612)GAT>AAT p.D204N WISP1_uc003yuc.2_Intron|WISP1_uc010meb.2_Intron|WISP1_uc010mec.2_Intron|WISP1_uc010med.2_Intron|WISP1_uc003yud.2_Intron NM_003882 NP_003873 O95388 WISP1_HUMAN WNT1 inducible signaling pathway protein 1 204 cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway extracellular region|soluble fraction insulin-like growth factor binding central_nervous_system(1)|kidney(1) 2 all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0107) AGGAGCCTTCGGTGGGTGTGG 0.617000 FAM135B 51059 broad.mit.edu 37 8 139323096 139323096 + Missense_Mutation SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr8:139323096C>T uc003yuy.2 - 3 316 c.145G>A c.(145-147)GCT>ACT p.A49T FAM135B_uc003yux.2_5'UTR|FAM135B_uc003yuz.2_RNA NM_015912 NP_056996 Q49AJ0 F135B_HUMAN hypothetical protein LOC51059 49 ovary(7)|skin(2) 9 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GTCTGCCCAGCGATGGAGGCA 0.557000 HNSCC(54;0.14) TRPM3 80036 broad.mit.edu 37 9 73233887 73233887 + Missense_Mutation SNP C C T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr9:73233887C>T uc004aid.2 - 16 2462 c.2218G>A c.(2218-2220)GTG>ATG p.V740M TRPM3_uc004ahu.2_Missense_Mutation_p.V570M|TRPM3_uc004ahv.2_Missense_Mutation_p.V542M|TRPM3_uc004ahw.2_Missense_Mutation_p.V612M|TRPM3_uc004ahx.2_Missense_Mutation_p.V599M|TRPM3_uc004ahy.2_Missense_Mutation_p.V602M|TRPM3_uc004ahz.2_Missense_Mutation_p.V589M|TRPM3_uc004aia.2_Missense_Mutation_p.V587M|TRPM3_uc004aib.2_Missense_Mutation_p.V577M|TRPM3_uc004aic.2_Missense_Mutation_p.V740M NM_001007471 NP_001007472 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, 765 Cytoplasmic (Potential). integral to membrane calcium channel activity ovary(3)|pancreas(2)|central_nervous_system(2)|skin(2) 9 TTGGCAGCCACGGCAAGCTGC 0.607000 CTNNAL1 8727 broad.mit.edu 37 9 111741743 111741743 + Missense_Mutation SNP G G A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr9:111741743G>A uc004bdo.1 - 7 961 c.919C>T c.(919-921)CGG>TGG p.R307W CTNNAL1_uc010mts.1_Missense_Mutation_p.R43W|CTNNAL1_uc010mtt.1_Missense_Mutation_p.R307W|CTNNAL1_uc004bdp.1_Missense_Mutation_p.R307W NM_003798 NP_003789 Q9UBT7 CTNL1_HUMAN catenin, alpha-like 1 307 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity ovary(1) 1 STAD - Stomach adenocarcinoma(157;0.0768) AGATTCTCCCGAAGAGCTTCA 0.418000 FAM120C 54954 broad.mit.edu 37 X 54107882 54107882 + Missense_Mutation SNP T T C TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chrX:54107882T>C uc004dsz.3 - 14 2934 c.2851A>G c.(2851-2853)ATC>GTC p.I951V FAM120C_uc011moh.1_Silent_p.Q813Q NM_017848 NP_060318 Q9NX05 F120C_HUMAN hypothetical protein LOC54954 951 ovary(1)|central_nervous_system(1) 2 TGGGGTGGGATTGGATGGAGA 0.393000 NAP1L2 4674 broad.mit.edu 37 X 72433514 72433514 + Missense_Mutation SNP A A T TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chrX:72433514A>T uc004ebi.2 - 1 1171 c.815T>A c.(814-816)ATT>AAT p.I272N NAP1L2_uc011mqj.1_Missense_Mutation_p.I130N NM_021963 NP_068798 Q9ULW6 NP1L2_HUMAN nucleosome assembly protein 1-like 2 272 nucleosome assembly chromatin assembly complex lung(1) 1 Renal(35;0.156) CTTAACTTTAATATCTGTCAG 0.363000 DEPDC4 120863 broad.mit.edu 37 12 100660815 100660816 + Frame_Shift_Ins INS - - C rs142975288 by1000genomes TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr12:100660814_100660815A>AC uc009ztv.1 - 0 43_44 c.40_41T>GT c.(40-42)gttfs p.V14fs SCYL2_uc009ztw.1_5'Flank|SCYL2_uc001thm.1_5'Flank|SCYL2_uc001thn.3_5'Flank|DEPDC4_uc001thh.1_Non-coding_Transcript|DEPDC4_uc001thi.3_Frame_Shift_Ins_p.V14fs|DEPDC4_uc001thj.1_Frame_Shift_Ins_p.V14fs|DEPDC4_uc001thk.1_5'UTR|DEPDC4_uc001thl.1_Non-coding_Transcript NM_152317 NP_689530 Q8N2C3 DEPD4_HUMAN Homo sapiens DEP domain containing 4 (DEPDC4), mRNA. 14 intracellular signal transduction NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1) 15 AGTCAAAAGAACCGCCATAAGC 0.634 RBBP6 5930 broad.mit.edu 37 16 24583197 24583198 + Frame_Shift_Ins INS - - A TCGA-D7-8578-01A-21D-2340-08 TCGA-D7-8578-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4e5dfe9a-e9be-4fb5-b9f3-d41268dbfad3 33b49419-1891-4766-96fd-a54a188f70dc g.chr16:24583196_24583197T>TA uc002dmh.3 + 17 5849_5850 c.4809_4810T>TA c.(4807-4812)attactfs p.I1603fs RBBP6_uc002dmi.3_Frame_Shift_Ins_p.I1569fs|RBBP6_uc010bxr.3_Frame_Shift_Ins_p.I763fs|RBBP6_uc002dmk.3_Frame_Shift_Ins_p.I1436fs NM_006910 NP_008841 Q7Z6E9 RBBP6_HUMAN Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA. 1603 protein ubiquitination involved in ubiquitin-dependent protein catabolic process chromosome|nucleolus|ubiquitin ligase complex nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding p.Q1602R(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1) 46 GBM - Glioblastoma multiforme(48;0.0518) AAGAGCAAATTACTGGGCAAAT 0.381