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 ZP2 7783 broad.mit.edu 37 16 21210985 21210985 + Silent SNP G G A TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr16:21210985G>A ENST00000574002.1 - 17 2315 c.1833C>T c.(1831-1833)gtC>gtT p.V611V ZP2_ENST00000574091.1_Silent_p.V602V|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Silent_p.V611V Q05996 ZP2_HUMAN zona pellucida glycoprotein 2 (sperm receptor) 611 ZP. binding of sperm to zona pellucida|intracellular protein transport endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule acrosin binding|coreceptor activity NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1) 41 GBM - Glioblastoma multiforme(48;0.0573) AGTGGAAGTAGACCTGGAGAC 0.507000 4 45 0 0 1 0 0 GCDH 2639 broad.mit.edu 37 19 13002715 13002715 + Missense_Mutation SNP C C T TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr19:13002715C>T ENST00000422947.2 + 4 269 c.11C>T c.(10-12)tCa>tTa p.S4L GCDH_ENST00000457854.1_Silent_p.L66L|GCDH_ENST00000222214.5_Silent_p.L66L|GCDH_ENST00000591470.1_Silent_p.L66L Q92947 GCDH_HUMAN glutaryl-CoA dehydrogenase 0 lysine catabolic process mitochondrial matrix flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8) 19 ATGAGATCCTCATCAGGGACA 0.627000 3 37 0 0 1 0 0 TMPRSS2 7113 broad.mit.edu 37 21 42839672 42839672 + Nonsense_Mutation SNP G G A TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr21:42839672G>A ENST00000398585.3 - 13 1627 c.1567C>T c.(1567-1569)Cga>Tga p.R523* TMPRSS2_ENST00000458356.1_Nonsense_Mutation_p.R486*|TMPRSS2_ENST00000332149.5_Nonsense_Mutation_p.R486* NM_001135099.1 NP_001128571.1 O15393 TMPS2_HUMAN transmembrane protease, serine 2 486 proteolysis cytoplasm|extracellular region|integral to plasma membrane scavenger receptor activity|serine-type endopeptidase activity TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13) central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1) 4 Prostate(19;4.48e-07)|all_epithelial(19;0.031) CTCATTTGTCGATAAATCCAG 0.517000 T """ERG, ETV1, ETV4, ETV5""" prostate 4 66 0 0 1 0 0 ZNF536 9745 broad.mit.edu 37 19 30935719 30935719 + Missense_Mutation SNP G G A TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr19:30935719G>A ENST00000355537.3 + 2 1397 c.1250G>A c.(1249-1251)gGc>gAc p.G417D NM_014717.1 NP_055532.1 O15090 ZN536_HUMAN zinc finger protein 536 417 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.G417D(1) NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3) 182 Esophageal squamous(110;0.0834) CCCATGGGCGGCATGTCCCAG 0.632000 4 64 0 0 1 0 0 IKZF1 10320 broad.mit.edu 37 7 50358661 50358661 + Missense_Mutation SNP G G A TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr7:50358661G>A ENST00000331340.3 + 2 159 c.4G>A c.(4-6)Gat>Aat p.D2N IKZF1_ENST00000439701.1_Missense_Mutation_p.D2N|IKZF1_ENST00000413698.1_Missense_Mutation_p.D2N|IKZF1_ENST00000343574.5_Missense_Mutation_p.D2N|IKZF1_ENST00000349824.4_Missense_Mutation_p.D2N|IKZF1_ENST00000492782.1_3'UTR|IKZF1_ENST00000346667.4_Missense_Mutation_p.D2N|IKZF1_ENST00000359197.5_Missense_Mutation_p.D2N|IKZF1_ENST00000357364.4_Missense_Mutation_p.D2N|IKZF1_ENST00000440768.2_Missense_Mutation_p.D2N|IKZF1_ENST00000438033.1_Missense_Mutation_p.D2N NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4 NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1 Q13422 IKZF1_HUMAN IKAROS family zinc finger 1 (Ikaros) 2 cell cycle|chromatin modification|mesoderm development cytoplasm|nucleus zinc ion binding p.?(41) haematopoietic_and_lymphoid_tissue(275)|lung(1) 276 Glioma(55;0.08)|all_neural(89;0.245) Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07) GAGGACCATGGATGCTGATGA 0.428000 """D,T""" BCL6 """ALL, DLBCL""" 6 145 0 0 1 0 0 ECI2 10455 broad.mit.edu 37 6 4116175 4116175 + Missense_Mutation SNP C C T TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr6:4116175C>T ENST00000465828.1 - 10 1313 c.1028G>A c.(1027-1029)gGa>gAa p.G343E C6orf201_ENST00000380175.4_Intron|C6orf201_ENST00000430835.2_Intron|C6orf201_ENST00000333388.5_Intron|ECI2_ENST00000380125.2_Missense_Mutation_p.G343E|ECI2_ENST00000413766.2_Missense_Mutation_p.G206E|ECI2_ENST00000380118.3_Missense_Mutation_p.G373E|ECI2_ENST00000361538.2_Missense_Mutation_p.G343E O75521 ECI2_HUMAN enoyl-CoA delta isomerase 2 373 fatty acid metabolic process mitochondrion|peroxisomal matrix dodecenoyl-CoA delta-isomerase activity|fatty-acyl-CoA binding endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1) 11 TAGCCATCTTCCCTGAAGGAC 0.403000 5 59 0 0 1 0 0 GPR87 53836 broad.mit.edu 37 3 151011992 151011992 + Missense_Mutation SNP C C G TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr3:151011992C>G ENST00000260843.4 - 3 1506 c.1042G>C c.(1042-1044)Gaa>Caa p.E348Q MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron NM_023915.3 NP_076404.3 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 348 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 19 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATGCGAACTTCCGATCTTCTC 0.338000 13 161 0 0 1 0 0 SPTAN1 6709 broad.mit.edu 37 9 131371450 131371450 + Nonsense_Mutation SNP G G T TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr9:131371450G>T ENST00000358161.5 + 36 4758 c.4645G>T c.(4645-4647)Gaa>Taa p.E1549* SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.E1549*|SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.E1549* Q13813 SPTA2_HUMAN spectrin, alpha, non-erythrocytic 1 1549 actin filament capping|axon guidance|cellular component disassembly involved in apoptosis cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 87 AAAGCTAGGAGAATCTCAAAC 0.468000 6 80 0.217242 0.223632 1 1 0 MUC4 4585 broad.mit.edu 37 3 195505814 195505814 + Missense_Mutation SNP C C T TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr3:195505814C>T ENST00000463781.3 - 2 13096 c.12637G>A c.(12637-12639)Gac>Aac p.D4213N MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213N|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 970 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.D4213N(1) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) GAGGAAGTGTCGGTGACAGGA 0.597000 3 2 0 0 1 0 0 ARL6 84100 broad.mit.edu 37 3 97506888 97506888 + Missense_Mutation SNP G G C TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr3:97506888G>C ENST00000463745.1 + 6 881 c.404G>C c.(403-405)aGa>aCa p.R135T ARL6_ENST00000394206.1_Missense_Mutation_p.R135T|ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000335979.2_Missense_Mutation_p.R135T NM_001278293.1 NP_001265222.1 Q9H0F7 ARL6_HUMAN ADP-ribosylation factor-like 6 135 cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body GTP binding|metal ion binding|phospholipid binding|protein binding large_intestine(1)|lung(4) 5 Lung NSC(201;0.0193)|Prostate(884;0.174) LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189) ATGGATCTTAGAGATGCAGTG 0.318000 4 57 0 0 1 0 0 C7orf63 79846 broad.mit.edu 37 7 89938595 89938595 + Missense_Mutation SNP G G C TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr7:89938595G>C ENST00000389297.4 + 22 2820 c.2569G>C c.(2569-2571)Gaa>Caa p.E857Q C7orf63_ENST00000497910.1_Missense_Mutation_p.E839Q|C7orf63_ENST00000316089.8_Missense_Mutation_p.E811Q NM_001039706.2|NM_001160138.1 NP_001034795.2|NP_001153610.1 A5D8W1 CG063_HUMAN chromosome 7 open reading frame 63 857 binding breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3) 37 AAGCCTTCAAGAAAAAGCTAT 0.294000 6 78 0 0 1 0 0 WDFY3 23001 broad.mit.edu 37 4 85617303 85617303 + Silent SNP T T C TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr4:85617303T>C ENST00000322366.6 - 57 9077 c.8670A>G c.(8668-8670)ctA>ctG p.L2890L WDFY3_ENST00000295888.4_Silent_p.L2907L Q8IZQ1 WDFY3_HUMAN WD repeat and FYVE domain containing 3 2907 BEACH. cytoplasmic part|extrinsic to membrane|nuclear envelope 1-phosphatidylinositol binding|metal ion binding|protein binding breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2) 134 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;0.000808) TCCACTCATGTAGATGGGCAC 0.413000 7 137 0 0 1 0 0 MUC4 4585 broad.mit.edu 37 3 195505813 195505813 + Missense_Mutation SNP T T C TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr3:195505813T>C ENST00000463781.3 - 2 13097 c.12638A>G c.(12637-12639)gAc>gGc p.D4213G MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.D4213G|MUC4_ENST00000346145.4_Intron NM_018406.6 NP_060876.5 Q99102 MUC4_HUMAN mucin 4, cell surface associated 970 cell-matrix adhesion integral to plasma membrane|proteinaceous extracellular matrix ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity p.D4213G(2) NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206) Lung NSC(153;0.191) Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05) GBM - Glioblastoma multiforme(46;2.37e-05) TGAGGAAGTGTCGGTGACAGG 0.592000 3 2 0 0 1 0 0 NPSR1 387129 broad.mit.edu 37 7 34851409 34851409 + Missense_Mutation SNP G G A TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr7:34851409G>A ENST00000360581.1 + 4 540 c.412G>A c.(412-414)Gtc>Atc p.V138I NPSR1_ENST00000381539.3_Missense_Mutation_p.V138I|NPSR1_ENST00000359791.1_Missense_Mutation_p.V138I|NPSR1_ENST00000381542.1_Intron|NPSR1_ENST00000531252.1_Missense_Mutation_p.V127I NM_207172.1 NP_997055.1 Q6W5P4 NPSR1_HUMAN neuropeptide S receptor 1 138 cytoplasm|integral to membrane|plasma membrane vasopressin receptor activity endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7) 31 Halothane(DB01159) CTCTACCTACGTCCTGGTGTC 0.483000 6 98 0 0 1 0 0 FAM83C 128876 broad.mit.edu 37 20 33879832 33879832 + Silent SNP G G A rs138645862 TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr20:33879832G>A ENST00000374408.3 - 1 372 c.276C>T c.(274-276)agC>agT p.S92S NM_178468.5 NP_848563.1 Q9BQN1 FA83C_HUMAN family with sequence similarity 83, member C 92 central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 40 BRCA - Breast invasive adenocarcinoma(18;0.00252) CCTGAGCCTCGCTGAGCTCAG 0.662000 6 43 0 0 1 0 0 SOS1 6654 broad.mit.edu 37 2 39240676 39240676 + Missense_Mutation SNP C C G TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr2:39240676C>G ENST00000426016.1 - 14 2178 c.2092G>C c.(2092-2094)Gag>Cag p.E698Q SOS1_ENST00000402219.2_Missense_Mutation_p.E698Q|SOS1_ENST00000395038.2_Missense_Mutation_p.E698Q Q07889 SOS1_HUMAN son of sevenless homolog 1 (Drosophila) 698 N-terminal Ras-GEF. apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction cytosol DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2) 75 all_hematologic(82;0.21) AAGTGGTGCTCTACCCAGTGC 0.333000 Noonan syndrome 6 128 0 0 1 0 0 KL 9365 broad.mit.edu 37 13 33628236 33628236 + Missense_Mutation SNP G G A TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr13:33628236G>A ENST00000380099.3 + 2 1160 c.1152G>A c.(1150-1152)atG>atA p.M384I KL_ENST00000426690.2_Missense_Mutation_p.M77I|KL_ENST00000487852.1_3'UTR NM_004795.3 NP_004786.2 Q9UEF7 KLOT_HUMAN klotho 384 Glycosyl hydrolase-1 1. aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5) 41 all_epithelial(80;0.133) Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262) GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05) ACCCTCACATGAAGTTCCGCC 0.403000 11 236 0 0 1 0 0 PARK2 5071 broad.mit.edu 37 6 161771157 161771157 + Missense_Mutation SNP T T G TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr6:161771157T>G ENST00000366898.1 - 12 1474 c.1372A>C c.(1372-1374)Atg>Ctg p.M458L PARK2_ENST00000366896.1_Missense_Mutation_p.M309L|PARK2_ENST00000338468.3_Missense_Mutation_p.M267L|PARK2_ENST00000366897.1_Missense_Mutation_p.M430L|PARK2_ENST00000366894.1_Missense_Mutation_p.M267L NM_004562.2 NP_004553.2 O60260 PRKN2_HUMAN parkin RBR E3 ubiquitin protein ligase 458 aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 39 all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102) UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046) TGGTCCCCCATGCAGACGCGG 0.622000 3 11 0 0 1 0 0 ZC3H7B 23264 broad.mit.edu 37 22 41752381 41752381 + Silent SNP G G A TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr22:41752381G>A ENST00000352645.4 + 21 2675 c.2418G>A c.(2416-2418)ctG>ctA p.L806L ZC3H7B_ENST00000351589.4_Silent_p.L806L NM_017590.4 NP_060060.3 Q9UGR2 Z3H7B_HUMAN zinc finger CCCH-type containing 7B 822 interspecies interaction between organisms nucleus nucleic acid binding|protein binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 38 ACATGTGGCTGAAAAAACACA 0.592000 5 117 0 0 1 0 0 SIM1 6492 broad.mit.edu 37 6 100838498 100838498 + Silent SNP C C T TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr6:100838498C>T ENST00000369208.3 - 12 2822 c.2040G>A c.(2038-2040)tcG>tcA p.S680S SIM1_ENST00000262901.4_Silent_p.S680S P81133 SIM1_HUMAN single-minded family bHLH transcription factor 1 680 Single-minded C-terminal. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5) 79 all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13) BRCA - Breast invasive adenocarcinoma(108;0.0774) GAGATATATCCGAATGCAGAT 0.448000 6 132 0 0 1 0 0 RBM5 10181 broad.mit.edu 37 3 50155783 50155783 + Missense_Mutation SNP G G C TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr3:50155783G>C ENST00000347869.3 + 25 2517 c.2342G>C c.(2341-2343)gGa>gCa p.G781A RP11-493K19.3_ENST00000425674.1_RNA|RP11-493K19.3_ENST00000437204.1_RNA NM_005778.3 NP_005769.1 P52756 RBM5_HUMAN RNA binding motif protein 5 781 G-patch.|Required for interaction with U2AF2. apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly nucleoplasm|spliceosomal complex DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding breast(2)|cervix(2)|endometrium(3)|large_intestine(4)|lung(6)|prostate(2) 19 BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632) CGGCTAAAGGGAGCTGGCCTA 0.572000 3 27 0 0 1 0 0 ANXA13 312 broad.mit.edu 37 8 124693557 124693557 + Nonsense_Mutation SNP G G A TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr8:124693557G>A ENST00000262219.6 - 12 1064 c.997C>T c.(997-999)Cag>Tag p.Q333* ANXA13_ENST00000419625.1_Nonsense_Mutation_p.Q292* NM_001003954.1 NP_001003954.1 P27216 ANX13_HUMAN annexin A13 292 cell differentiation plasma membrane calcium ion binding|calcium-dependent phospholipid binding breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2) 25 Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00288) AGAGACTTCTGATACTTCTCT 0.468000 8 201 0 0 1 0 0 GATSL3 652968 broad.mit.edu 37 22 30685448 30685448 + Silent SNP C C G TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr22:30685448C>G ENST00000407689.3 - 1 168 c.39G>C c.(37-39)ctG>ctC p.L13L RP1-130H16.18_ENST00000447976.1_Intron|GATSL3_ENST00000404953.3_Silent_p.L13L NM_001037666.2 NP_001032755.1 GATS protein-like 3 breast(1)|endometrium(1)|lung(1) 3 GGGCGACGCTCAGCACCCGCA 0.736000 2 5 0 0 1 0 0 RGPD8 727851 broad.mit.edu 37 2 113127775 113127775 + Missense_Mutation SNP G G C TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr2:113127775G>C ENST00000302558.3 - 23 5469 c.5278C>G c.(5278-5280)Cct>Gct p.P1760A RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A NM_001164463.1 NP_001157935.1 RANBP2-like and GRIP domain containing 8 p.P1760A(12) endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1) 10 GAACGGGAAGGATTTTCTTCC 0.308000 4 58 0 0 1 0 0 GPR87 53836 broad.mit.edu 37 3 151012106 151012106 + Missense_Mutation SNP C C G TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr3:151012106C>G ENST00000260843.4 - 3 1392 c.928G>C c.(928-930)Gat>Cat p.D310H MED12L_ENST00000273432.4_Intron|MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron NM_023915.3 NP_076404.3 Q9BY21 GPR87_HUMAN G protein-coupled receptor 87 310 integral to membrane|plasma membrane purinergic nucleotide receptor activity, G-protein coupled endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1) 19 LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517) ATTATTGGATCCAGGCAAACA 0.343000 13 128 0 0 1 0 0 ABCA5 23461 broad.mit.edu 37 17 67250492 67250492 + Missense_Mutation SNP C C G TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr17:67250492C>G ENST00000392676.3 - 32 4272 c.4208G>C c.(4207-4209)gGa>gCa p.G1403A ABCA5_ENST00000588877.1_Missense_Mutation_p.G1403A|ABCA5_ENST00000392677.2_Missense_Mutation_p.G1404A Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 1403 ABC transporter 2. cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane ATP binding|ATPase activity breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 54 Breast(10;3.72e-11) TGCACTCATTCCTTTGACAGC 0.353000 5 117 0 0 1 0 0 SH2D1B 117157 broad.mit.edu 37 1 162368847 162368847 + Missense_Mutation SNP G G C TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr1:162368847G>C ENST00000367929.2 - 3 338 c.229C>G c.(229-231)Cca>Gca p.P77A SH2D1B_ENST00000359567.3_Intron NM_053282.4 NP_444512.2 O14796 SH21B_HUMAN SH2 domain containing 1B 77 SH2. kidney(1)|large_intestine(1)|lung(4)|pancreas(1) 7 all_hematologic(112;0.115) BRCA - Breast invasive adenocarcinoma(70;0.126) TTTAGGCTTGGAAAGACCTGT 0.408000 5 60 0 0 1 0 0 RP11-242J7.1 0 broad.mit.edu 37 4 185536410 185536413 + RNA DEL TTTG TTTG - rs146473442 TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr4:185536410_185536413delTTTG ENST00000522554.1 - 0 292 CAAAGCCGATtttgtttgtttgtt 0.451 2 4 --- --- --- --- MPP6 51678 broad.mit.edu 37 7 24705666 24705666 + Frame_Shift_Del DEL A A - TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr7:24705666delA ENST00000222644.5 + 8 1160 c.910delA c.(910-912)aaafs p.K308fs MPP6_ENST00000396475.2_Frame_Shift_Del_p.K308fs|MPP6_ENST00000409761.1_Frame_Shift_Del_p.K196fs Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) protein complex assembly protein binding breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2) 20 TATAAGTAGCAAAAAAAAGAA 0.299 7 177 --- --- --- --- MMP12 4321 broad.mit.edu 37 11 102738793 102738794 + RNA INS - - T rs35342965 by1000genomes TCGA-DK-A3WY-01A-11D-A22Z-08 TCGA-DK-A3WY-10A-01D-A22Z-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4fd5e4de-0e63-425d-a352-ecb88a9bcfbd 0f864c3a-117e-4d6b-a31f-79284943431e g.chr11:102738793_102738794insT ENST00000532855.1 - 0 727_728 P39900 MMP12_HUMAN matrix metallopeptidase 12 (macrophage elastase) positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1) 26 all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) BRCA - Breast invasive adenocarcinoma(274;0.014) Acetohydroxamic Acid(DB00551) TGAGGAACAAGTGGTGCCTAAG 0.416 7 6 --- --- --- ---