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 IWS1 55677 broad.mit.edu 37 2 128262756 128262756 + Silent SNP C C T TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr2:128262756C>T ENST00000295321.4 - 3 982 c.723G>A c.(721-723)gaG>gaA p.E241E AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Silent_p.E248E NM_017969.2 NP_060439.2 Q96ST2 IWS1_HUMAN IWS1 homolog (S. cerevisiae) 241 3 X approximate tandem repeats.|Glu-rich. transcription, DNA-dependent nucleus DNA binding cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 28 Colorectal(110;0.1) BRCA - Breast invasive adenocarcinoma(221;0.0735) GTTTGGGAAGCTCCTCATTTT 0.512000 34 112 0 0 1 0 0 TRRAP 8295 broad.mit.edu 37 7 98608832 98608832 + Missense_Mutation SNP T T G TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr7:98608832T>G ENST00000359863.4 + 70 11263 c.11054T>G c.(11053-11055)gTc>gGc p.V3685G TRRAP_ENST00000446306.3_Missense_Mutation_p.V3674G|TRRAP_ENST00000355540.3_Missense_Mutation_p.V3656G NM_001244580.1 NP_001231509.1 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated protein 3685 PI3K/PI4K. histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2) 176 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) GCGGAATTCGTCCTGCATTTA 0.532000 22 123 0 0 1 0 0 PPP4R1 9989 broad.mit.edu 37 18 9595085 9595085 + Missense_Mutation SNP G G A TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr18:9595085G>A ENST00000400556.3 - 3 192 c.119C>T c.(118-120)tCa>tTa p.S40L PPP4R1_ENST00000400555.3_Missense_Mutation_p.S23L NM_001042388.2 NP_001035847.1 Q8TF05 PP4R1_HUMAN protein phosphatase 4, regulatory subunit 1 40 protein phosphorylation|signal transduction protein phosphatase 4 complex protein binding|protein phosphatase type 4 regulator activity large_intestine(1)|skin(2) 3 TTCATCTTGTGAGACAAAGTC 0.403000 18 34 0 0 1 0 0 TRAPPC6B 122553 broad.mit.edu 37 14 39623491 39623491 + Missense_Mutation SNP T T C TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr14:39623491T>C ENST00000330149.5 - 4 501 c.275A>G c.(274-276)tAt>tGt p.Y92C TRAPPC6B_ENST00000557764.1_5'UTR|TRAPPC6B_ENST00000347691.5_Intron NM_001079537.1 NP_001073005.1 Q86SZ2 TPC6B_HUMAN trafficking protein particle complex 6B 92 vesicle-mediated transport endoplasmic reticulum|Golgi apparatus guanylate cyclase activity|heme binding large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 4 Hepatocellular(127;0.213) LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711) GBM - Glioblastoma multiforme(112;0.0128) CTGAAGTACATAGATGCCCTG 0.318000 4 10 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90296532 90296532 + Nonsense_Mutation SNP A A T TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr9:90296532A>T ENST00000469640.2 + 20 2590 c.2215A>T c.(2215-2217)Aag>Tag p.K739* DAPK1_ENST00000408954.3_Nonsense_Mutation_p.K739*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.K739*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.K739*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.K739* P53355 DAPK1_HUMAN death-associated protein kinase 1 739 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 CCTGGCTTCTAAGCCCACAGG 0.577000 Chronic Lymphocytic Leukemia, Familial Clustering of 4 13 0 0 1 0 0 GPR26 2849 broad.mit.edu 37 10 125426388 125426388 + Silent SNP G G A TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr10:125426388G>A ENST00000284674.1 + 1 518 c.465G>A c.(463-465)tcG>tcA p.S155S NM_153442.3 NP_703143.1 Q8NDV2 GPR26_HUMAN G protein-coupled receptor 26 155 activation of adenylate cyclase activity by G-protein signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1) 20 Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226) TGTACGCCTCGTGCACGCTGT 0.692000 7 20 0 0 1 0 0 NLRP4 147945 broad.mit.edu 37 19 56372898 56372898 + Missense_Mutation SNP G G A TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr19:56372898G>A ENST00000301295.6 + 4 2425 c.2003G>A c.(2002-2004)cGc>cAc p.R668H NLRP4_ENST00000587891.1_Missense_Mutation_p.R593H|NLRP4_ENST00000346986.5_Missense_Mutation_p.R668H NM_134444.4 NP_604393.2 Q96MN2 NALP4_HUMAN NLR family, pyrin domain containing 4 668 ATP binding breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8) 42 Colorectal(82;0.0002)|Ovarian(87;0.221) GBM - Glioblastoma multiforme(193;0.0606) CCCAGCTGTCGCCTTCAGAAG 0.557000 20 39 0 0 1 0 0 SI 6476 broad.mit.edu 37 3 164735586 164735586 + Missense_Mutation SNP C C A TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr3:164735586C>A ENST00000264382.3 - 30 3658 c.3596G>T c.(3595-3597)gGc>gTc p.G1199V NM_001041.3 NP_001032.2 P14410 SUIS_HUMAN sucrase-isomaltase (alpha-glucosidase) 1199 Sucrase. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1) 218 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TGGAGTTGGGCCCAAAAACAT 0.333000 HNSCC(35;0.089) 3 25 2.56e-06 2.752e-06 1 1 0 CADM3 57863 broad.mit.edu 37 1 159166233 159166233 + Silent SNP C C T TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr1:159166233C>T ENST00000368125.4 + 6 928 c.771C>T c.(769-771)cgC>cgT p.R257R CADM3_ENST00000368124.4_Silent_p.R291R|CTA-134P22.2_ENST00000415675.2_RNA NM_001127173.1 NP_001120645.1 Q8N126 CADM3_HUMAN cell adhesion molecule 3 257 Ig-like C2-type 2. adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion cell-cell junction|integral to membrane protein homodimerization activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3) 55 all_hematologic(112;0.0429) GTGAGGGTCGCGGCAATCCAG 0.507000 OREG0013913 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 9 21 0 0 1 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 5 33 0 0 1 0 0 HIST1H3H 8357 broad.mit.edu 37 6 27777905 27777905 + Silent SNP C C A TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr6:27777905C>A ENST00000369163.2 + 1 64 c.54C>A c.(52-54)cgC>cgA p.R18R NM_003536.2 NP_003527.1 P68431 H31_HUMAN histone cluster 1, H3h 18 blood coagulation|nucleosome assembly|regulation of gene silencing|S phase nucleoplasm|nucleosome DNA binding|protein binding haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)|upper_aerodigestive_tract(3) 10 AGGCTCCGCGCAAGCAGCTGG 0.632000 12 85 6.40141e-05 6.71367e-05 1 1 0 C10orf107 219621 broad.mit.edu 37 10 63525768 63525768 + Silent SNP C C G TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr10:63525768C>G ENST00000330194.2 + 7 929 c.624C>G c.(622-624)gcC>gcG p.A208A NM_173554.2 NP_775825.1 Q8IVU9 CJ107_HUMAN chromosome 10 open reading frame 107 208 breast(1)|kidney(1)|lung(4)|prostate(1)|skin(1) 8 Prostate(12;0.016) TGAAAAAGGCCTAAGGACTTG 0.403000 13 18 0 0 1 0 0 MC3R 4159 broad.mit.edu 37 20 54823997 54823997 + Missense_Mutation SNP C C A TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr20:54823997C>A ENST00000243911.2 + 1 210 c.98C>A c.(97-99)gCc>gAc p.A33D NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 70 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) AGCAGCAGCGCCTTCTGTGAG 0.562000 31 112 1.26612e-14 1.51231e-14 1 1 0 SRPX2 27286 broad.mit.edu 37 X 99925824 99925824 + Missense_Mutation SNP G G A TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chrX:99925824G>A ENST00000373004.3 + 11 1666 c.1238G>A c.(1237-1239)cGc>cAc p.R413H NM_014467.2 NP_055282.1 O60687 SRPX2_HUMAN sushi-repeat containing protein, X-linked 2 413 angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation cytoplasm|extracellular region receptor binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1) 19 CGCCTCACTCGCTCCTACTTC 0.517000 OREG0019890 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 19 14 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154315375 154315375 + Missense_Mutation SNP C C T TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr1:154315375C>T ENST00000368489.3 + 15 1490 c.1490C>T c.(1489-1491)aCg>aTg p.T497M NM_020452.3 NP_065185.1 P98198 AT8B2_HUMAN ATPase, aminophospholipid transporter, class I, type 8B, member 2 483 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GACCCCCACACGCATGAGTTC 0.552000 10 33 0 0 1 0 0 PRKRIR 5612 broad.mit.edu 37 11 76062399 76062399 + Missense_Mutation SNP G G A TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr11:76062399G>A ENST00000260045.3 - 5 1900 c.1795C>T c.(1795-1797)Ctc>Ttc p.L599F NM_004705.2 NP_004696.2 O43422 P52K_HUMAN protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor) 599 negative regulation of cell proliferation|response to stress|signal transduction DNA binding|metal ion binding|protein dimerization activity cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1) 25 AGAGCTTTGAGGTGCTGTTCT 0.408000 25 42 0 0 1 0 0 TAGLN3 29114 broad.mit.edu 37 3 111719774 111719774 + Silent SNP G G A TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr3:111719774G>A ENST00000393917.2 + 3 888 c.336G>A c.(334-336)caG>caA p.Q112Q TAGLN3_ENST00000273368.4_Silent_p.Q112Q|TAGLN3_ENST00000486460.1_Silent_p.Q28Q|TAGLN3_ENST00000478951.1_Silent_p.Q112Q|TAGLN3_ENST00000455401.2_Silent_p.Q112Q NM_013259.2 NP_037391.2 Q9UI15 TAGL3_HUMAN transgelin 3 112 CH. central nervous system development|muscle organ development endometrium(2)|lung(5)|urinary_tract(1) 8 ACATCTTTCAGACGGTGGATC 0.473000 12 81 0 0 1 0 0 SYCP2 10388 broad.mit.edu 37 20 58443955 58443955 + Missense_Mutation SNP G G T TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr20:58443955G>T ENST00000357552.3 - 37 3992 c.3767C>A c.(3766-3768)tCc>tAc p.S1256Y SYCP2_ENST00000371001.2_Missense_Mutation_p.S1256Y Q9BX26 SYCP2_HUMAN synaptonemal complex protein 2 1256 cell division|meiotic prophase I|synaptonemal complex assembly DNA binding NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 53 all_lung(29;0.00344) BRCA - Breast invasive adenocarcinoma(7;1.19e-09) ACTAGACTTGGATAATGAAGA 0.313000 5 25 0.184627 0.184627 1 1 0 CEACAM16 388551 broad.mit.edu 37 19 45211203 45211203 + Silent SNP C C T TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr19:45211203C>T ENST00000587331.1 + 6 1226 c.1011C>T c.(1009-1011)acC>acT p.T337T CTB-171A8.1_ENST00000590796.1_RNA|CEACAM16_ENST00000405314.2_Silent_p.T337T NM_001039213.2 NP_001034302.2 A7LI12 A7LI12_HUMAN carcinoembryonic antigen-related cell adhesion molecule 16 337 endometrium(3)|large_intestine(2)|lung(3)|ovary(1) 9 Lung NSC(12;0.000698)|all_lung(12;0.002) Prostate(69;0.0376)|Ovarian(192;0.231) TAACACTGACCGTGCAGGGCT 0.672000 4 8 0 0 1 0 0 CTC-260E6.6 0 broad.mit.edu 37 19 20369503 20369503 + RNA SNP C C G rs8103002 by1000genomes TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr19:20369503C>G ENST00000593655.1 - 0 199 TTATTGACTGCTGTAGTGGTA 0.458000 4 54 0 0 1 0 0 TENM3 55714 broad.mit.edu 37 4 183713808 183713808 + Missense_Mutation SNP C C A TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr4:183713808C>A ENST00000511685.1 + 26 6106 c.5983C>A c.(5983-5985)Caa>Aaa p.Q1995K TENM3_ENST00000406950.2_Missense_Mutation_p.Q1995K teneurin transmembrane protein 3 TAGATACAGGCAAATTGGTCC 0.413000 32 149 9.65963e-10 1.12261e-09 1 1 0 TNN 63923 broad.mit.edu 37 1 175046867 175046867 + Missense_Mutation SNP G G T TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr1:175046867G>T ENST00000239462.4 + 2 426 c.313G>T c.(313-315)Gtc>Ttc p.V105F NM_022093.1 NP_071376.1 Q9UQP3 TENN_HUMAN tenascin N 105 cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) GGCAGGCAGTGTCCAGGACCT 0.602000 7 51 3.09899e-07 3.41683e-07 1 1 0 MUC16 94025 broad.mit.edu 37 19 9080484 9080484 + Missense_Mutation SNP C C A TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr19:9080484C>A ENST00000397910.4 - 2 9750 c.9547G>T c.(9547-9549)Gcc>Tcc p.A3183S NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 3184 Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TCTGCTGGGGCAGGCCACGTG 0.478000 7 54 8.12818e-05 8.32171e-05 1 1 0 MAFF 23764 broad.mit.edu 37 22 38609879 38609879 + Missense_Mutation SNP T T C TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr22:38609879T>C ENST00000338483.2 + 2 381 c.19T>C c.(19-21)Tcc>Ccc p.S7P MAFF_ENST00000538999.1_Intron|MAFF_ENST00000538320.1_Missense_Mutation_p.S7P|MAFF_ENST00000426621.2_Missense_Mutation_p.S7P|MAFF_ENST00000407965.1_Missense_Mutation_p.S7P Q9ULX9 MAFF_HUMAN v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog F 7 blood coagulation|parturition|transcription from RNA polymerase II promoter nucleoplasm sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity lung(2)|skin(1) 3 Melanoma(58;0.045) GGATCCCCTATCCAGCAAAGC 0.527000 7 39 0 0 1 0 0 TBC1D2 55357 broad.mit.edu 37 9 100975410 100975410 + Missense_Mutation SNP C C G TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr9:100975410C>G ENST00000375066.5 - 7 1556 c.1465G>C c.(1465-1467)Gag>Cag p.E489Q TBC1D2_ENST00000493589.2_Intron|TBC1D2_ENST00000342112.5_Missense_Mutation_p.E271Q|TBC1D2_ENST00000375064.1_Missense_Mutation_p.E489Q|TBC1D2_ENST00000375063.1_Missense_Mutation_p.E29Q NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 489 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) AGGGCCTTCTCCTTCTCAGCC 0.592000 8 17 0 0 1 0 0 BMX 660 broad.mit.edu 37 X 15574250 15574250 + Missense_Mutation SNP C C T TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chrX:15574250C>T ENST00000357607.2 + 19 2196 c.2008C>T c.(2008-2010)Cgg>Tgg p.R670W BMX_ENST00000348343.6_Missense_Mutation_p.R670W|BMX_ENST00000342014.6_Missense_Mutation_p.R670W P51813 BMX_HUMAN BMX non-receptor tyrosine kinase 670 Protein kinase. R -> W (in a lung large cell carcinoma sample; somatic mutation). cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development cytosol ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity p.R670W(3) breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3) 30 Hepatocellular(33;0.183) TGAACCACTTCGGGAAAAAGA 0.383000 33 29 0 0 1 0 0 ELFN2 114794 broad.mit.edu 37 22 37770517 37770517 + Missense_Mutation SNP G G A rs140802260 byFrequency TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr22:37770517G>A ENST00000402918.1 - 3 1843 c.1058C>T c.(1057-1059)gCg>gTg p.A353V ELFN2_ENST00000349653.3_Missense_Mutation_p.A353V|RP1-63G5.5_ENST00000430883.1_RNA NM_052906.3 NP_443138.2 Q5R3F8 LRFN6_HUMAN extracellular leucine-rich repeat and fibronectin type III domain containing 2 353 Fibronectin type-III. cell surface|integral to membrane NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 35 Melanoma(58;0.0574) CTCAGTGTGCGCCCGCAGTTT 0.587000 26 76 0 0 1 0 0 CTU2 348180 broad.mit.edu 37 16 88780127 88780127 + Missense_Mutation SNP G G A TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr16:88780127G>A ENST00000567949.1 + 9 1168 c.1159G>A c.(1159-1161)Gct>Act p.A387T CTU2_ENST00000312060.5_Missense_Mutation_p.A316T|CTU2_ENST00000378384.3_Missense_Mutation_p.A229T|CTU2_ENST00000453996.2_Missense_Mutation_p.A316T Q2VPK5 CTU2_HUMAN cytosolic thiouridylase subunit 2 homolog (S. pombe) 316 tRNA thio-modification|tRNA wobble uridine modification cytoplasm|protein complex|soluble fraction protein binding NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 11 GAAGGAGGTCGCTTTCTACAA 0.637000 39 77 0 0 1 0 0 AURKAIP1 54998 broad.mit.edu 37 1 1309669 1309669 + Missense_Mutation SNP G G C TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr1:1309669G>C ENST00000338370.3 - 2 609 c.209C>G c.(208-210)tCc>tGc p.S70C AURKAIP1_ENST00000378853.3_Missense_Mutation_p.S70C|AURKAIP1_ENST00000489799.1_5'UTR|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.S70C|AURKAIP1_ENST00000321751.5_Missense_Mutation_p.S70C Q9NWT8 AKIP_HUMAN aurora kinase A interacting protein 1 70 negative regulation of mitosis|positive regulation of proteolysis mitochondrion|nucleus protein binding kidney(1)|lung(2) 3 all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217) Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145) GGGGCTGACGGACATCTTCCT 0.672000 11 33 0 0 1 0 0 TREH 11181 broad.mit.edu 37 11 118529706 118529706 + Missense_Mutation SNP G G A TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr11:118529706G>A ENST00000529101.1 - 13 1498 c.1453C>T c.(1453-1455)Cgt>Tgt p.R485C TREH_ENST00000264029.4_Missense_Mutation_p.R485C|TREH_ENST00000530256.1_Missense_Mutation_p.R362C|TREH_ENST00000525958.1_Missense_Mutation_p.R454C|TREH_ENST00000397925.1_Missense_Mutation_p.R454C O43280 TREA_HUMAN trehalase (brush-border membrane glycoprotein) 485 polysaccharide digestion|trehalose catabolic process anchored to plasma membrane alpha,alpha-trehalase activity NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1) 13 all_hematologic(175;0.0839) Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112) BRCA - Breast invasive adenocarcinoma(274;3.16e-05) TGGGCCCGACGTAAAGGTGCC 0.562000 OREG0021385 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 11 89 0 0 1 0 0 ZZEF1 23140 broad.mit.edu 37 17 3977524 3977524 + Missense_Mutation SNP C C A TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr17:3977524C>A ENST00000381638.2 - 24 3729 c.3605G>T c.(3604-3606)tGg>tTg p.W1202L NM_015113.3 NP_055928.3 O43149 ZZEF1_HUMAN zinc finger, ZZ-type with EF-hand domain 1 1202 calcium ion binding|zinc ion binding central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 84 ATCCAGCCCCCAAGACACGGC 0.587000 22 142 4.35082e-09 4.92329e-09 1 1 0 TMEM140 55281 broad.mit.edu 37 7 134849232 134849232 + Silent SNP G G A TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr7:134849232G>A ENST00000275767.2 + 2 262 c.39G>A c.(37-39)ctG>ctA p.L13L C7orf49_ENST00000459937.1_Intron NM_018295.4 NP_060765.4 Q9NV12 TM140_HUMAN transmembrane protein 140 13 integral to membrane kidney(1)|large_intestine(2)|lung(2) 5 ACCAGCTGCTGTTCATGAGCA 0.592000 15 125 0 0 1 0 0 TCOF1 6949 broad.mit.edu 37 5 149776147 149776149 + In_Frame_Del DEL AAG AAG - TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr5:149776147_149776149delAAG ENST00000451292.1 + 25 4303_4305 c.4195_4197delAAG c.(4195-4197)del p.K1403del TCOF1_ENST00000504761.2_In_Frame_Del_p.K1366del|TCOF1_ENST00000439160.2_In_Frame_Del_p.K1329del|TCOF1_ENST00000445265.2_In_Frame_Del_p.K1290del|TCOF1_ENST00000323668.7_In_Frame_Del_p.K1289del|TCOF1_ENST00000377797.3_In_Frame_Del_p.K1367del|TCOF1_ENST00000513346.1_In_Frame_Del_p.K1366del Q13428 TCOF_HUMAN Treacher Collins-Franceschetti syndrome 1 1366 skeletal system development nucleolus protein binding|transporter activity p.K1362delK(1)|p.K1285delK(1) NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 35 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) CCCCAGGAGCAAGAAGAAGAAGA 0.601 2 4 --- --- --- --- TYSND1 219743 broad.mit.edu 37 10 71905929 71905931 + In_Frame_Del DEL CAG CAG - TCGA-J9-A52E-01A-11D-A26M-08 TCGA-J9-A52E-10A-01D-A26K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 840aa1ee-fa15-4fc3-b292-886ab0dbfc06 8486179b-1f5d-4f30-9d89-0672c1e73383 g.chr10:71905929_71905931delCAG ENST00000287078.6 - 1 411_413 c.412_414delCTG c.(412-414)del p.L138del TYSND1_ENST00000335494.5_In_Frame_Del_p.L138del NM_173555.2 NP_775826.2 Q2T9J0 TYSD1_HUMAN trypsin domain containing 1 138 proteolysis peroxisome serine-type endopeptidase activity endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1) 9 CCGGGCAGCTCAGCAGCAGCAGC 0.739 3 5 --- --- --- ---