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 SLC1A7 6512 broad.mit.edu 37 1 53558323 53558323 + Silent SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr1:53558323G>A uc001cuy.2 - 7 1102 c.934C>T c.(934-936)CTG>TTG p.L312L SLC1A7_uc001cux.2_5'Flank NM_006671 NP_006662 O00341 EAA5_HUMAN solute carrier family 1 (glutamate transporter), 312 Helical; (Potential). integral to membrane|plasma membrane high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity ovary(2)|large_intestine(1) 3 Colorectal(1306;0.234) L-Glutamic Acid(DB00142) AGCAGGGGCAGGATAAAGAGC 0.592000 CNN3 1266 broad.mit.edu 37 1 95367785 95367785 + Silent SNP A A G TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr1:95367785A>G uc010otw.1 - 5 358 c.276T>C c.(274-276)GCT>GCC p.A92A CNN3_uc010otv.1_Silent_p.A51A|CNN3_uc001dqz.3_Silent_p.A92A|CNN3_uc010otx.1_Intron NM_001839 NP_001830 Q15417 CNN3_HUMAN calponin 3 92 CH. actomyosin structure organization|smooth muscle contraction actin binding|calmodulin binding|tropomyosin binding|troponin C binding 0 all_lung(203;0.00206)|Lung NSC(277;0.00948) all cancers(265;0.0325)|Epithelial(280;0.0861) AAGCCTGAATAGCTTTAATAA 0.343000 OLFML2B 25903 broad.mit.edu 37 1 161967627 161967627 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr1:161967627G>A uc001gbu.2 - 6 1886 c.1462C>T c.(1462-1464)CGG>TGG p.R488W OLFML2B_uc010pkq.1_Missense_Mutation_p.R489W NM_015441 NP_056256 Q68BL8 OLM2B_HUMAN olfactomedin-like 2B precursor 488 skin(1) 1 all_hematologic(112;0.156) BRCA - Breast invasive adenocarcinoma(70;0.0172) ATGACATTCCGGATGTCATCT 0.552000 TNR 7143 broad.mit.edu 37 1 175292512 175292512 + Missense_Mutation SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr1:175292512C>T uc001gkp.1 - 21 4139 c.4058G>A c.(4057-4059)CGG>CAG p.R1353Q TNR_uc009wwu.1_Missense_Mutation_p.R1353Q NM_003285 NP_003276 Q92752 TENR_HUMAN tenascin R precursor 1353 axon guidance|cell adhesion|signal transduction proteinaceous extracellular matrix pancreas(5)|ovary(4)|central_nervous_system(1)|skin(1) 11 Renal(580;0.146) TAAGGACTGCCGTTTTCTCCC 0.473000 PPFIBP1 8496 broad.mit.edu 37 12 27841317 27841317 + Silent SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr12:27841317G>A uc001ric.1 + 25 2852 c.2475G>A c.(2473-2475)GCG>GCA p.A825A PPFIBP1_uc010sjr.1_Silent_p.A656A|PPFIBP1_uc001rib.1_Silent_p.A819A|PPFIBP1_uc001ria.2_Silent_p.A794A|PPFIBP1_uc001rid.1_Silent_p.A672A|PPFIBP1_uc001rif.1_Silent_p.A332A NM_003622 NP_003613 Q86W92 LIPB1_HUMAN PTPRF interacting protein binding protein 1 825 SAM 3. cell adhesion plasma membrane protein binding PPFIBP1/ALK(3) soft_tissue(3)|kidney(1)|skin(1) 5 Lung SC(9;0.0873) CAGAATATGCGCCCAATCTCA 0.473000 SLC17A8 246213 broad.mit.edu 37 12 100811871 100811871 + Silent SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr12:100811871C>T uc010svi.1 + 11 1675 c.1362C>T c.(1360-1362)AAC>AAT p.N454N SLC17A8_uc009ztx.2_Silent_p.N404N NM_139319 NP_647480 Q8NDX2 VGLU3_HUMAN solute carrier family 17 (sodium-dependent 454 Helical; (Potential). neurotransmitter transport|sensory perception of sound|sodium ion transport cell junction|integral to membrane|synaptic vesicle membrane|synaptosome L-glutamate transmembrane transporter activity|symporter activity ovary(3) 3 GGATCTCAAACGGAGTGGGAA 0.488000 NRXN3 9369 broad.mit.edu 37 14 80271525 80271525 + Missense_Mutation SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr14:80271525C>T uc001xun.2 + 16 3367 c.2876C>T c.(2875-2877)CCG>CTG p.P959L NRXN3_uc001xum.1_RNA|NRXN3_uc001xup.2_RNA|NRXN3_uc001xuq.2_Missense_Mutation_p.P327L|NRXN3_uc010asw.2_Missense_Mutation_p.P357L|NRXN3_uc001xur.3_Missense_Mutation_p.P327L NM_004796 NP_004787 Q9Y4C0 NRX3A_HUMAN neurexin 3 isoform 1 precursor 1332 Extracellular (Potential). axon guidance|cell adhesion integral to plasma membrane metal ion binding|receptor activity ovary(3)|upper_aerodigestive_tract(2)|pancreas(2)|central_nervous_system(1)|breast(1)|skin(1) 10 Renal(4;0.00876) BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223) GAATGTGAGCCGAGTACAGGT 0.333000 ATP8B4 79895 broad.mit.edu 37 15 50223420 50223420 + Missense_Mutation SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr15:50223420C>T uc001zxu.2 - 16 1680 c.1538G>A c.(1537-1539)CGG>CAG p.R513Q ATP8B4_uc010ber.2_Missense_Mutation_p.R386Q|ATP8B4_uc010ufd.1_Intron|ATP8B4_uc010ufe.1_RNA NM_024837 NP_079113 Q8TF62 AT8B4_HUMAN ATPase class I type 8B member 4 513 Cytoplasmic (Potential). ATP biosynthetic process integral to membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity skin(3)|ovary(2)|breast(2)|large_intestine(1) 8 all_lung(180;0.00183) all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05) CTCTGGGGTCCGGGATTTAAA 0.398000 IL16 3603 broad.mit.edu 37 15 81589340 81589340 + Silent SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr15:81589340C>T uc002bgh.3 + 13 2350 c.1974C>T c.(1972-1974)GCC>GCT p.A658A IL16_uc010blq.1_Silent_p.A612A|IL16_uc002bge.3_RNA|IL16_uc010unp.1_Silent_p.A700A|IL16_uc002bgg.2_Silent_p.A658A|IL16_uc002bgi.1_Silent_p.A48A|IL16_uc002bgj.2_Silent_p.A152A|IL16_uc002bgk.2_5'UTR|IL16_uc002bgl.1_5'UTR|IL16_uc010unq.1_5'Flank NM_172217 NP_757366 Q14005 IL16_HUMAN interleukin 16 isoform 2 658 immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|extracellular space|nucleus|plasma membrane cytokine activity ovary(2)|lung(1)|skin(1) 4 GTGCCTCTGCCGGCTGCCCAG 0.592000 CNOT1 23019 broad.mit.edu 37 16 58619350 58619350 + Missense_Mutation SNP T T G TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr16:58619350T>G uc002env.2 - 8 991 c.698A>C c.(697-699)GAC>GCC p.D233A CNOT1_uc002enw.2_RNA|CNOT1_uc002enu.3_Missense_Mutation_p.D233A|CNOT1_uc002enx.2_Missense_Mutation_p.D233A|CNOT1_uc002enz.1_Intron NM_016284 NP_057368 A5YKK6 CNOT1_HUMAN CCR4-NOT transcription complex, subunit 1 233 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasmic mRNA processing body|cytosol ovary(4)|central_nervous_system(2) 6 Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239) CATTAGAATGTCCCGTTTTTC 0.453000 CDH1 999 broad.mit.edu 37 16 68842595 68842595 + Splice_Site SNP G G T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr16:68842595G>T uc002ewg.1 + 5 656 c.532_splice c.e5-1 p.I178_splice CDH1_uc010vlj.1_Splice_Site|CDH1_uc010cfg.1_Splice_Site_p.I178_splice NM_004360 NP_004351 P12830 CADH1_HUMAN cadherin 1, type 1 preproprotein adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm cell adhesion molecule binding|gamma-catenin binding p.?(4) 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) TTTGTCTTCAGATCAAATCCA 0.418000 Mis|N|F|S lobular breast|gastric gastric Hereditary_Diffuse_Gastric_Cancer IMP5 162540 broad.mit.edu 37 17 43923555 43923555 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr17:43923555G>A uc010wka.1 + 1 1283 c.1283G>A c.(1282-1284)CGG>CAG p.R428Q LOC100128977_uc010wjz.1_Intron NM_175882 NP_787078 Q8IUH8 IMP5_HUMAN intramembrane protease 5 precursor 428 Cytoplasmic (Potential). integral to membrane aspartic-type endopeptidase activity pancreas(2) 2 Colorectal(2;0.0416) BRCA - Breast invasive adenocarcinoma(366;0.148) AAAGTGCCCCGGCTAAGAGTC 0.587000 CACNA1G 8913 broad.mit.edu 37 17 48680542 48680542 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr17:48680542G>A uc002irk.1 + 21 4523 c.4151G>A c.(4150-4152)CGG>CAG p.R1384Q CACNA1G_uc002iri.1_Missense_Mutation_p.R1384Q|CACNA1G_uc002irj.1_Missense_Mutation_p.R1361Q|CACNA1G_uc002irl.1_Missense_Mutation_p.R1361Q|CACNA1G_uc002irm.1_Missense_Mutation_p.R1361Q|CACNA1G_uc002irn.1_Missense_Mutation_p.R1361Q|CACNA1G_uc002iro.1_Missense_Mutation_p.R1361Q|CACNA1G_uc002irp.1_Missense_Mutation_p.R1384Q|CACNA1G_uc002irq.1_Missense_Mutation_p.R1361Q|CACNA1G_uc002irr.1_Missense_Mutation_p.R1384Q|CACNA1G_uc002irs.1_Missense_Mutation_p.R1384Q|CACNA1G_uc002irt.1_Missense_Mutation_p.R1384Q|CACNA1G_uc002irv.1_Missense_Mutation_p.R1384Q|CACNA1G_uc002irw.1_Missense_Mutation_p.R1361Q|CACNA1G_uc002iru.1_Missense_Mutation_p.R1361Q|CACNA1G_uc002irx.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002iry.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002irz.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002isa.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002isb.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002isc.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002isd.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002ise.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002isf.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002isg.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002ish.1_Missense_Mutation_p.R1297Q|CACNA1G_uc002isi.1_Missense_Mutation_p.R1274Q|CACNA1G_uc002isj.2_Missense_Mutation_p.R108Q NM_018896 NP_061496 O43497 CAC1G_HUMAN voltage-dependent calcium channel alpha 1G 1384 III.|Helical; Name=S4 of repeat III; (Potential). axon guidance voltage-gated calcium channel complex low voltage-gated calcium channel activity breast(1) 1 Breast(11;6.7e-17) BRCA - Breast invasive adenocarcinoma(22;7.52e-09) Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909) CGGCTGCTGCGGACCCTGCGC 0.657000 ME2 4200 broad.mit.edu 37 18 48443718 48443718 + Missense_Mutation SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr18:48443718C>T uc002ley.2 + 6 726 c.470C>T c.(469-471)GCT>GTT p.A157V ME2_uc010dpd.2_Missense_Mutation_p.A157V NM_002396 NP_002387 P23368 MAOM_HUMAN malic enzyme 2, NAD(+)-dependent, mitochondrial 157 malate metabolic process mitochondrial matrix electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding 0 Colorectal(6;0.0273)|all_epithelial(6;0.118) Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184) NADH(DB00157) GTGATTAAGGCTGTTGTAGTG 0.338000 CREB3L3 84699 broad.mit.edu 37 19 4154997 4154997 + Silent SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr19:4154997C>T uc002lzl.2 + 2 245 c.129C>T c.(127-129)GGC>GGT p.G43G CREB3L3_uc002lzm.2_Silent_p.G34G|CREB3L3_uc010xib.1_Silent_p.G34G|CREB3L3_uc010xic.1_Silent_p.G34G NM_032607 NP_115996 Q68CJ9 CR3L3_HUMAN cAMP responsive element binding protein 3-like 43 Cytoplasmic (Potential). response to unfolded protein endoplasmic reticulum membrane|integral to membrane|nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(1)|skin(1) 2 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18) TGGAGCTGGGCGAGGGCTGGG 0.642000 RDH8 50700 broad.mit.edu 37 19 10129502 10129502 + Missense_Mutation SNP C C A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr19:10129502C>A uc002mmr.2 + 3 607 c.358C>A c.(358-360)CGT>AGT p.R120S NM_015725 NP_056540 Q9NYR8 RDH8_HUMAN retinol dehydrogenase 8 (all-trans) 120 estrogen biosynthetic process|response to stimulus|visual perception cytoplasm|integral to plasma membrane binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity ovary(3)|pancreas(1) 4 Epithelial(33;4.24e-05) Vitamin A(DB00162) CGGAGCTGTCCGTCTCGTCAA 0.587000 FOSL2 2355 broad.mit.edu 37 2 28635103 28635103 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr2:28635103G>A uc002rma.2 + 4 1578 c.769G>A c.(769-771)GGT>AGT p.G257S FOSL2_uc010ymi.1_Missense_Mutation_p.G218S NM_005253 NP_005244 P15408 FOSL2_HUMAN FOS-like antigen 2 257 cell death|regulation of transcription from RNA polymerase II promoter nucleus protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(2)|breast(1) 3 Acute lymphoblastic leukemia(172;0.155) GGGCTTCTACGGTGAGGAGCC 0.647000 RANBP2 5903 broad.mit.edu 37 2 109399073 109399073 + Missense_Mutation SNP C C A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr2:109399073C>A uc002tem.3 + 28 9250 c.9124C>A c.(9124-9126)CAG>AAG p.Q3042K NM_006267 NP_006258 P49792 RBP2_HUMAN RAN binding protein 2 3042 RanBD1 4. carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding RANBP2/ALK(16) soft_tissue(16)|lung(1)|pancreas(1) 18 AGAATGTCAGCAGAATTTAAT 0.398000 C20orf194 25943 broad.mit.edu 37 20 3355774 3355774 + Splice_Site SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr20:3355774C>T uc002wii.2 - 5 460 c.409_splice c.e5-1 p.Y137_splice C20orf194_uc002wik.2_Splice_Site|C20orf194_uc010gay.1_Splice_Site NM_001009984 NP_001009984 Q5TEA3 CT194_HUMAN hypothetical protein LOC25943 0 CATCTTCATACTGAAGAGACA 0.383000 CD93 22918 broad.mit.edu 37 20 23065099 23065099 + Silent SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr20:23065099G>A uc002wsv.2 - 1 1879 c.1731C>T c.(1729-1731)GAC>GAT p.D577D NM_012072 NP_036204 Q9NPY3 C1QR1_HUMAN CD93 antigen precursor 577 Extracellular (Potential). cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis plasma membrane calcium ion binding|complement component C1q binding|receptor activity|sugar binding large_intestine(2) 2 Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118) GCTTTTGCCCGTCAGTGCCAT 0.617000 GNAS 2778 broad.mit.edu 37 20 57484421 57484421 + Missense_Mutation SNP G G A rs121913495 TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr20:57484421G>A uc002xzw.2 + 8 2816 c.2531G>A c.(2530-2532)CGT>CAT p.R844H GNAS_uc002xzt.2_3'UTR|GNAS_uc010gjq.2_Missense_Mutation_p.R142H|GNAS_uc002xzx.2_Missense_Mutation_p.R142H|GNAS_uc010gjr.2_Missense_Mutation_p.R92H|GNAS_uc002xzy.2_Missense_Mutation_p.R127H|GNAS_uc002yaa.2_Missense_Mutation_p.R187H|GNAS_uc010zzt.1_Missense_Mutation_p.R202H|GNAS_uc002yab.2_Intron|GNAS_uc002yad.2_Missense_Mutation_p.R92H|GNAS_uc002yae.2_Missense_Mutation_p.R126H NM_080425 NP_536350 P63092 GNAS2_HUMAN GNAS complex locus XLas 201 GTP (By similarity). R -> L (in non-MAS endocrine tumors).|R -> S (in AIMAH, pituitary tumor and polyostotic fibrous dysplasia).|R -> H (in MAS, somatotrophinoma and AIMAH).|R -> G (in MAS). activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity p.R201H(37)|p.R201L(1)|p.R844H(1) pituitary(201)|thyroid(35)|ovary(15)|adrenal_gland(9)|liver(7)|large_intestine(5)|parathyroid(5)|kidney(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|testis(1)|stomach(1)|small_intestine(1)|autonomic_ganglia(1)|pancreas(1) 292 all_lung(29;0.0104) BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109) CTTCGCTGCCGTGTCCTGACT 0.423000 Mis pituitary adenoma McCune-Albright syndrome; pseudohypoparathyroidism|type IA 3-Methylglutaconic_Aciduria_and_Myelodysplasia|McCune-Albright_syndrome|Mazabraud_syndrome TSP Lung(22;0.16) RHOA 387 broad.mit.edu 37 3 49405956 49405956 + Missense_Mutation SNP G G T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr3:49405956G>T uc003cwu.2 - 3 458 c.182C>A c.(181-183)GCT>GAT p.A61D RHOA_uc010hku.2_Translation_Start_Site NM_001664 NP_001655 P61586 RHOA_HUMAN ras homolog gene family, member A precursor 61 GTP (By similarity). 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) TTCCTGCCCAGCTGTGTCCCA 0.473000 MYH15 22989 broad.mit.edu 37 3 108159995 108159995 + Missense_Mutation SNP T T C TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr3:108159995T>C uc003dxa.1 - 24 2885 c.2828A>G c.(2827-2829)GAG>GGG p.E943G NM_014981 NP_055796 Q9Y2K3 MYH15_HUMAN myosin, heavy polypeptide 15 943 Potential. myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(5)|central_nervous_system(2) 7 AGAATTTATCTCCTCTTCTTC 0.478000 MME 4311 broad.mit.edu 37 3 154886414 154886414 + Silent SNP C C T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr3:154886414C>T uc010hvr.1 + 19 2125 c.1914C>T c.(1912-1914)CAC>CAT p.H638H MME_uc003fab.1_Silent_p.H638H|MME_uc003fac.1_Silent_p.H638H|MME_uc003fad.1_Silent_p.H638H|MME_uc003fae.1_Silent_p.H638H NM_007289 NP_009220 P08473 NEP_HUMAN membrane metallo-endopeptidase 638 Extracellular (Potential). cell-cell signaling|proteolysis integral to plasma membrane metal ion binding|metalloendopeptidase activity|protein binding ovary(2)|central_nervous_system(1) 3 all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122) LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135) Candoxatril(DB00616) GTGGACAGCACGTATGTCATT 0.383000 CLCN2 1181 broad.mit.edu 37 3 184073198 184073198 + Silent SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr3:184073198G>A uc003foi.2 - 12 1414 c.1290C>T c.(1288-1290)AAC>AAT p.N430N CLCN2_uc003foh.2_Translation_Start_Site|CLCN2_uc010hya.1_Silent_p.N430N|CLCN2_uc011brl.1_Silent_p.N430N|CLCN2_uc011brm.1_Silent_p.N386N|CLCN2_uc011brn.1_Silent_p.N430N NM_004366 NP_004357 P51788 CLCN2_HUMAN chloride channel 2 430 Helical; (By similarity). chloride channel complex voltage-gated chloride channel activity 0 all_cancers(143;6.66e-11)|Ovarian(172;0.0339) Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22) Lubiprostone(DB01046) TGAGGAAGACGTTGGCACGTG 0.522000 OR14J1 442191 broad.mit.edu 37 6 29274611 29274611 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr6:29274611G>A uc011dln.1 + 1 145 c.145G>A c.(145-147)GTG>ATG p.V49M NM_030946 NP_112208 Q9UGF5 O14J1_HUMAN olfactory receptor, family 5, subfamily U member 49 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(1) 1 CATCATTACCGTGGACCGTCG 0.468000 C6orf1 221491 broad.mit.edu 37 6 34214824 34214824 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr6:34214824G>A uc003ojf.2 - 4 714 c.122C>T c.(121-123)CCA>CTA p.P41L uc003oje.1_5'Flank|C6orf1_uc003ojg.2_Missense_Mutation_p.P41L|C6orf1_uc003ojh.2_Missense_Mutation_p.P41L|C6orf1_uc003oji.2_RNA NM_178508 NP_848603 Q86T20 CF001_HUMAN hypothetical protein LOC221491 precursor 41 extracellular region 0 Ovarian(999;0.0228) BRCA - Breast invasive adenocarcinoma(397;1.11e-10) TGCTCACCTTGGGGTCTCCCA 0.607000 OREG0017364 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) HSF2 3298 broad.mit.edu 37 6 122743424 122743424 + Missense_Mutation SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr6:122743424G>A uc003pyu.2 + 8 998 c.811G>A c.(811-813)GTT>ATT p.V271I HSF2_uc003pyv.2_Missense_Mutation_p.V271I NM_004506 NP_004497 Q03933 HSF2_HUMAN heat shock transcription factor 2 isoform a 271 response to stress|transcription from RNA polymerase II promoter cytoplasm|nucleus sequence-specific DNA binding transcription factor activity|transcription coactivator activity 0 OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586) TAATGAGGATGTTATATCTGA 0.313000 C7orf27 221927 broad.mit.edu 37 7 2594051 2594051 + Silent SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr7:2594051G>A uc003smi.2 - 2 57 c.15C>T c.(13-15)TGC>TGT p.C5C C7orf27_uc003smj.1_Silent_p.C5C NM_152743 NP_689956 Q6PJG6 BRAT1_HUMAN hypothetical protein LOC221927 precursor 5 response to ionizing radiation nucleus protein binding 0 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;2.91e-14) GCAGCTGGGCGCATTCTGGGT 0.597000 RABEPK 10244 broad.mit.edu 37 9 127990211 127990211 + Silent SNP A A G TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr9:127990211A>G uc004bpi.2 + 7 722 c.549A>G c.(547-549)CCA>CCG p.P183P RABEPK_uc004bpj.2_Silent_p.P132P|RABEPK_uc004bpk.2_Silent_p.P183P|RABEPK_uc004bpl.1_Silent_p.P132P|RABEPK_uc004bpm.2_Silent_p.P183P NM_005833 NP_005824 Q7Z6M1 RABEK_HUMAN Rab9 effector protein with kelch motifs 183 Kelch 3. receptor-mediated endocytosis|vesicle docking involved in exocytosis endosome membrane|plasma membrane ovary(1) 1 GGTCACAGCCAGAGACACTTG 0.483000 NHS 4810 broad.mit.edu 37 X 17745826 17745826 + Silent SNP G G A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chrX:17745826G>A uc004cxx.2 + 6 3875 c.3537G>A c.(3535-3537)CTG>CTA p.L1179L NHS_uc011mix.1_Silent_p.L1200L|NHS_uc004cxy.2_Silent_p.L1023L|NHS_uc004cxz.2_Silent_p.L1002L|NHS_uc004cya.2_Silent_p.L902L NM_198270 NP_938011 Q6T4R5 NHS_HUMAN Nance-Horan syndrome protein isoform 1 1179 nucleus skin(3)|ovary(2)|breast(1)|central_nervous_system(1) 7 Hepatocellular(33;0.183) ACACCATACTGTCCTTTTTAG 0.413000 MAGEB10 139422 broad.mit.edu 37 X 27840218 27840218 + Missense_Mutation SNP C C A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chrX:27840218C>A uc004dbw.2 + 3 1022 c.795C>A c.(793-795)AAC>AAA p.N265K NM_182506 NP_872312 Q96LZ2 MAGBA_HUMAN melanoma antigen family B, 10 265 MAGE. lung(1)|breast(1)|central_nervous_system(1) 3 AAGTGCCCAACAGTGATCCTC 0.458000 PCDH19 57526 broad.mit.edu 37 X 99551591 99551591 + Missense_Mutation SNP C C A TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chrX:99551591C>A uc010nmz.2 - 6 4807 c.3131G>T c.(3130-3132)TGC>TTC p.C1044F PCDH19_uc004efw.3_Missense_Mutation_p.C996F|PCDH19_uc004efx.3_Missense_Mutation_p.C997F NM_020766 NP_001098713 Q8TAB3 PCD19_HUMAN protocadherin 19 isoform b 1044 Cytoplasmic (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1) 7 CTTGGGGCTGCAGATGGTCAC 0.592000 PLA2G1B 5319 broad.mit.edu 37 12 120763700 120763701 + Frame_Shift_Ins INS - - A rs78096484 TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr12:120763699_120763700C>CA uc001tyd.3 - 1 194_195 c.158_159G>TG c.(157-159)ttgfs p.L53fs PLA2G1B_uc009zwx.3_Frame_Shift_Ins_p.L53fs NM_000928 NP_000919 P04054 PA21B_HUMAN Homo sapiens phospholipase A2, group IB (pancreas) (PLA2G1B), mRNA. 53 actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of DNA replication|positive regulation of NF-kappaB transcription factor activity|positive regulation of calcium ion transport into cytosol|positive regulation of immune response|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter extracellular space bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding endometrium(1)|large_intestine(1)|lung(3)|skin(2) 7 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) CTGAGCCCCCCAAGCCACAGTA 0.614 OREG0022189 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) BZRAP1 9256 broad.mit.edu 37 17 56386384 56386385 + Frame_Shift_Ins INS - - T TCGA-D7-8574-01A-13D-2340-08 TCGA-D7-8574-10A-01D-2341-08 Untested Somatic Phase_I WXS none Illumina GAIIx b8bb9319-5450-418d-874c-e117448cecfe 2c754412-22e7-471f-b5f7-a390110559b7 g.chr17:56386383_56386384C>CT uc002ivx.4 - 21 5120_5121 c.4249_4250G>AG c.(4249-4251)agcfs p.S1417fs BZRAP1_uc002ivw.3_5'Flank|BZRAP1_uc010dcs.3_Frame_Shift_Ins_p.S1357fs|BZRAP1_uc010wnt.2_Frame_Shift_Ins_p.S1417fs NM_004758 NP_004749 O95153 RIMB1_HUMAN Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA. 1417 mitochondrion benzodiazepine receptor binding cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 54 Medulloblastoma(34;0.127)|all_neural(34;0.237) CCGCCTGCGGCTTGGGGGCTTC 0.653