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 t_alt_count t_ref_count validation_alt_allele validation_method validation_status validation_tumor_sample pox qox pox_cutoff isArtifactMode oxoGCut IL9R 3581 broad.mit.edu 37 X 155239821 155239821 + Missense_Mutation SNP G G A rs140822242 byFrequency TCGA-DJ-A3V3-01A-11D-A22Z-08 TCGA-DJ-A3V3-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d012ddd7-fcd6-4551-b1b1-d80ee5909894 05824ae9-7726-4f77-bd87-857be39089f3 g.chrX:155239821G>A ENST00000424344.3 + 10 1617 c.1250G>A c.(1249-1251)aGc>aAc p.S417N IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR|IL9R_ENST00000244174.5_Missense_Mutation_p.S438N Q01113 IL9R_HUMAN interleukin 9 receptor 438 cell proliferation extracellular space|integral to plasma membrane interleukin-9 receptor activity NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1) 23 all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) agcagcagcagcaacaacaac 0.642000 3 18 0 0 1 0 0 PCDHB7 0 broad.mit.edu 37 5 140553994 140553994 + Silent SNP G G T TCGA-DJ-A3V3-01A-11D-A22Z-08 TCGA-DJ-A3V3-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d012ddd7-fcd6-4551-b1b1-d80ee5909894 05824ae9-7726-4f77-bd87-857be39089f3 g.chr5:140553994G>T ENST00000231137.3 + 1 1752 c.1578G>T c.(1576-1578)gcG>gcT p.A526A NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 526 Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.A526A(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 119 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCCTGCAGGCGTTCGAGTTCC 0.706000 5 97 0.000157383 0.000170499 1 1 0 EPPK1 83481 broad.mit.edu 37 8 144940525 144940525 + Missense_Mutation SNP C C A TCGA-DJ-A3V3-01A-11D-A22Z-08 TCGA-DJ-A3V3-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d012ddd7-fcd6-4551-b1b1-d80ee5909894 05824ae9-7726-4f77-bd87-857be39089f3 g.chr8:144940525C>A ENST00000525985.1 - 2 6968 c.6897G>T c.(6895-6897)aaG>aaT p.K2299N P58107 EPIPL_HUMAN epiplakin 1 2299 cytoplasm|cytoskeleton protein binding|structural molecule activity NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 71 all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105) CCGACAGCAGCTTCTCCTGGA 0.701000 10 137 3.86212e-05 4.56432e-05 1 1 0 GPR132 29933 broad.mit.edu 37 14 105518396 105518396 + Silent SNP C C T TCGA-DJ-A3V3-01A-11D-A22Z-08 TCGA-DJ-A3V3-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d012ddd7-fcd6-4551-b1b1-d80ee5909894 05824ae9-7726-4f77-bd87-857be39089f3 g.chr14:105518396C>T ENST00000329797.3 - 4 989 c.78G>A c.(76-78)ctG>ctA p.L26L GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Silent_p.L17L|GPR132_ENST00000539291.2_Silent_p.L26L NM_013345.2 NP_037477.1 Q9UNW8 GP132_HUMAN G protein-coupled receptor 132 26 response to stress integral to membrane|plasma membrane G-protein coupled receptor activity central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1) 18 all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219) OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227) Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521) CGGAGAGGCCCAGGGAGGCCC 0.642000 21 37 0 0 1 0 0 LEPR 3953 broad.mit.edu 37 1 66058449 66058449 + Missense_Mutation SNP A A G TCGA-DJ-A3V3-01A-11D-A22Z-08 TCGA-DJ-A3V3-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d012ddd7-fcd6-4551-b1b1-d80ee5909894 05824ae9-7726-4f77-bd87-857be39089f3 g.chr1:66058449A>G ENST00000349533.6 + 6 789 c.604A>G c.(604-606)Aca>Gca p.T202A LEPR_ENST00000371060.3_Missense_Mutation_p.T202A|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000344610.8_Missense_Mutation_p.T202A|LEPR_ENST00000406510.3_Intron|LEPR_ENST00000371058.1_Missense_Mutation_p.T202A|LEPR_ENST00000371059.3_Missense_Mutation_p.T202A NM_002303.5 NP_002294.2 P48357 LEPR_HUMAN leptin receptor 202 energy reserve metabolic process|multicellular organismal development extracellular region|integral to membrane|plasma membrane cytokine receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2) 36 OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094) GCCTGTGCCAACAGCCAAACT 0.428000 19 28 0 0 1 0 0 RP11-798G7.5 0 broad.mit.edu 37 17 43587576 43587576 + RNA SNP A A G rs145439557 by1000genomes TCGA-DJ-A3V3-01A-11D-A22Z-08 TCGA-DJ-A3V3-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d012ddd7-fcd6-4551-b1b1-d80ee5909894 05824ae9-7726-4f77-bd87-857be39089f3 g.chr17:43587576A>G ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA tctgaaaagaaaagaaaaaaa 0.428000 5 36 0 0 1 0 0 OR1L8 138881 broad.mit.edu 37 9 125330357 125330357 + Missense_Mutation SNP C C T TCGA-DJ-A3V3-01A-11D-A22Z-08 TCGA-DJ-A3V3-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d012ddd7-fcd6-4551-b1b1-d80ee5909894 05824ae9-7726-4f77-bd87-857be39089f3 g.chr9:125330357C>T ENST00000304865.2 - 1 481 c.400G>A c.(400-402)Gtc>Atc p.V134I NM_001004454.1 NP_001004454.1 Q8NGR8 OR1L8_HUMAN olfactory receptor, family 1, subfamily L, member 8 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 20 ATGGTGGTGACATAGTGGAAA 0.537000 11 35 0 0 1 0 0 AQP9 366 broad.mit.edu 37 15 58476192 58476192 + Missense_Mutation SNP T T A TCGA-DJ-A3V3-01A-11D-A22Z-08 TCGA-DJ-A3V3-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d012ddd7-fcd6-4551-b1b1-d80ee5909894 05824ae9-7726-4f77-bd87-857be39089f3 g.chr15:58476192T>A ENST00000219919.4 + 6 1116 c.746T>A c.(745-747)gTg>gAg p.V249E AQP9_ENST00000536493.1_Missense_Mutation_p.V249E|AQP9_ENST00000558772.1_Missense_Mutation_p.V184E|ALDH1A2_ENST00000558231.1_Intron NM_020980.3 NP_066190.2 O43315 AQP9_HUMAN aquaporin 9 249 cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis integral to plasma membrane|intracellular membrane-bounded organelle amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1) 21 GBM - Glioblastoma multiforme(80;0.16) ATTCCTGTAGTGGGCCCTTTG 0.428000 47 60 0 0 1 0 0 RP11-586K2.1 0 broad.mit.edu 37 8 89498121 89498122 + RNA INS - - A TCGA-DJ-A3V3-01A-11D-A22Z-08 TCGA-DJ-A3V3-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d012ddd7-fcd6-4551-b1b1-d80ee5909894 05824ae9-7726-4f77-bd87-857be39089f3 g.chr8:89498121_89498122insA ENST00000521433.1 + 0 179 RP11-586K2.1_ENST00000523254.1_RNA gaacagctatgaaaaaaaaaac 0.386 2 4 --- --- --- --- TPTE2P1 0 broad.mit.edu 37 13 25527490 25527491 + RNA INS - - AAAAAG TCGA-DJ-A3V3-01A-11D-A22Z-08 TCGA-DJ-A3V3-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d012ddd7-fcd6-4551-b1b1-d80ee5909894 05824ae9-7726-4f77-bd87-857be39089f3 g.chr13:25527490_25527491insAAAAAG ENST00000429698.1 - 0 282 AGGAAGGTTCTAAAAAAAATTT 0.252 3 5 --- --- --- --- AC068831.10 0 broad.mit.edu 37 15 91577398 91577398 + RNA DEL G G - rs71463787 TCGA-DJ-A3V3-01A-11D-A22Z-08 TCGA-DJ-A3V3-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d012ddd7-fcd6-4551-b1b1-d80ee5909894 05824ae9-7726-4f77-bd87-857be39089f3 g.chr15:91577398delG ENST00000557804.1 + 0 465 TCCTGCTGCCGGTTCAGGTGA 0.627 2 4 --- --- --- --- RP1-37N7.4 0 broad.mit.edu 37 17 18334142 18334142 + RNA DEL T T - TCGA-DJ-A3V3-01A-11D-A22Z-08 TCGA-DJ-A3V3-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx d012ddd7-fcd6-4551-b1b1-d80ee5909894 05824ae9-7726-4f77-bd87-857be39089f3 g.chr17:18334142delT ENST00000580052.1 + 0 43 TTGGCAGGGGTGGGGCTCTCA 0.562 2 4 --- --- --- ---