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 LZTR1 8216 broad.mit.edu 37 22 21349206 21349206 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr22:21349206G>A ENST00000215739.8 + 16 2192 c.1833G>A c.(1831-1833)gtG>gtA p.V611V LZTR1_ENST00000389355.3_Silent_p.V592V|LZTR1_ENST00000479606.1_3'UTR NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 611 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TCAACCAGGTGATCATGATGA 0.617000 51 108 0 0 0.014410 0 0 FREM2 341640 broad.mit.edu 37 13 39265184 39265184 + Missense_Mutation SNP C C A rs151214132 TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr13:39265184C>A ENST00000280481.7 + 1 3919 c.3703C>A c.(3703-3705)Cat>Aat p.H1235N NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1235 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ATTCCCCACTCATGGTCACAT 0.428000 58 258 2.12129e-23 2.48898e-23 0.014410 1 0 C14orf37 145407 broad.mit.edu 37 14 58471868 58471868 + Silent SNP T T G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr14:58471868T>G ENST00000267485.7 - 7 2348 c.2154A>C c.(2152-2154)gtA>gtC p.V718V NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 718 integral to membrane binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 TCCCAACCCCTACAGGCACCA 0.488000 47 50 0 0 0.014410 0 0 PGBD5 79605 broad.mit.edu 37 1 230468601 230468601 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr1:230468601G>A ENST00000321327.2 - 7 1351 c.1352C>T c.(1351-1353)cCg>cTg p.P451L PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000391860.1_Missense_Mutation_p.P306L|PGBD5_ENST00000525115.1_Missense_Mutation_p.P352L Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 352 integral to membrane p.P451L(1) biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1) 33 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) CTGCTGCACCGGGGAGTAGGC 0.627000 33 63 0 0 0.015359 0 0 ZC2HC1A 51101 broad.mit.edu 37 8 79588079 79588079 + Missense_Mutation SNP C C A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr8:79588079C>A ENST00000263849.4 + 2 176 c.74C>A c.(73-75)aCa>aAa p.T25K ZC2HC1A_ENST00000521176.1_Intron NM_016010.2 NP_057094.2 Q96GY0 F164A_HUMAN zinc finger, C2HC-type containing 1A 25 TGTGGAAGAACATTCTTTCCA 0.323000 35 147 5.44703e-19 6.26586e-19 0.036044 1 0 PHC3 80012 broad.mit.edu 37 3 169840414 169840414 + Missense_Mutation SNP C C G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr3:169840414C>G ENST00000494943.1 - 9 1939 c.1871G>C c.(1870-1872)aGa>aCa p.R624T PHC3_ENST00000467570.1_Missense_Mutation_p.R583T|PHC3_ENST00000495893.1_Missense_Mutation_p.R636T Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 624 Pro-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) ATCTTCTCCTCTCCCCACTGT 0.398000 10 202 0 0 0.010729 0 0 DST 667 broad.mit.edu 37 6 56471961 56471961 + Nonsense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr6:56471961G>A ENST00000370754.5 - 39 7365 c.7366C>T c.(7366-7368)Cag>Tag p.Q2456* DST_ENST00000370788.2_Intron|DST_ENST00000370769.4_Nonsense_Mutation_p.Q2278*|DST_ENST00000312431.6_Nonsense_Mutation_p.Q2278*|DST_ENST00000361203.3_Nonsense_Mutation_p.Q2278*|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Nonsense_Mutation_p.Q1952* Q03001 DYST_HUMAN dystonin 2278 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity p.Q2278K(1) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CCCAGAAACTGGTCTTGAAAT 0.383000 12 41 0 0 0.010729 0 0 SLC39A12 221074 broad.mit.edu 37 10 18280093 18280093 + Missense_Mutation SNP A A T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr10:18280093A>T ENST00000377369.2 + 8 1556 c.1283A>T c.(1282-1284)cAt>cTt p.H428L SLC39A12_ENST00000377371.3_Missense_Mutation_p.H428L|SLC39A12_ENST00000377374.4_Missense_Mutation_p.H428L|SLC39A12_ENST00000539911.1_Missense_Mutation_p.H294L NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 428 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 CTTGGTTTACATAAGCAGGAA 0.373000 11 42 0 0 0.010729 0 0 RTKN2 219790 broad.mit.edu 37 10 64022543 64022543 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr10:64022543C>T ENST00000373789.3 - 2 194 c.98G>A c.(97-99)cGa>cAa p.R33Q RTKN2_ENST00000395265.1_Missense_Mutation_p.R33Q|RTKN2_ENST00000395260.3_Missense_Mutation_p.R33Q NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 33 signal transduction intracellular endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) TTCTCGCATTCGAATTTCTAA 0.333000 7 26 0 0 0.029380 0 0 B3GNT6 192134 broad.mit.edu 37 11 76750656 76750656 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr11:76750656G>A ENST00000533140.1 + 2 199 c.61G>A c.(61-63)Gtg>Atg p.V21M B3GNT6_ENST00000421061.1_Missense_Mutation_p.V21M|B3GNT6_ENST00000354301.5_Missense_Mutation_p.V21M Q6ZMB0 B3GN6_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase) 21 O-glycan processing, core 3 Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity central_nervous_system(1)|kidney(2)|lung(4)|prostate(1) 8 CCTGGTGGGCGTGAGTTTCTT 0.657000 OREG0021252 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 78 37 0 0 0.014410 0 0 KCNB2 9312 broad.mit.edu 37 8 73849229 73849229 + Missense_Mutation SNP A A G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr8:73849229A>G ENST00000523207.1 + 3 2227 c.1639A>G c.(1639-1641)Atc>Gtc p.I547V NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 547 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ATACAATGAAATCACCAAGAC 0.488000 23 88 0 0 0.021523 0 0 UGGT2 55757 broad.mit.edu 37 13 96675306 96675306 + Missense_Mutation SNP T T A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr13:96675306T>A ENST00000376747.3 - 4 543 c.473A>T c.(472-474)aAa>aTa p.K158I UGGT2_ENST00000376712.4_Missense_Mutation_p.K158I|UGGT2_ENST00000397618.3_Missense_Mutation_p.K158I|UGGT2_ENST00000376714.3_Missense_Mutation_p.K158I NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 158 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TGAAGCAGCTTTCTTCAGCAG 0.323000 22 56 0 0 0.014323 0 0 PGBD2 267002 broad.mit.edu 37 1 249211729 249211729 + Missense_Mutation SNP C C G rs75935520 TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr1:249211729C>G ENST00000355360.4 + 3 463 c.193C>G c.(193-195)Ctg>Gtg p.L65V PGBD2_ENST00000329291.5_Missense_Mutation_p.L316V|PGBD2_ENST00000539153.1_Missense_Mutation_p.L313V NM_001017434.1 NP_001017434.1 Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 316 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) ACAGGGCACACTGTTTACCAA 0.512000 82 33 0 0 0.014410 0 0 PAPOLB 56903 broad.mit.edu 37 7 4901062 4901062 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr7:4901062C>T ENST00000404991.1 - 1 563 c.377G>A c.(376-378)cGa>cAa p.R126Q RADIL_ENST00000399583.3_Intron|RADIL_ENST00000536091.1_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 126 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) AAAGTCGCTTCGATCCACATG 0.438000 13 36 0 0 0.020292 0 0 CFH 3075 broad.mit.edu 37 1 196642255 196642255 + Missense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr1:196642255G>T ENST00000367429.4 + 2 446 c.206G>T c.(205-207)gGa>gTa p.G69V CFH_ENST00000439155.2_Missense_Mutation_p.G69V|CFH_ENST00000359637.2_Missense_Mutation_p.G69V|CFH_ENST00000496761.1_3'UTR NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 69 Sushi 1. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TGCAGGAAGGGAGAATGGGTT 0.363000 69 44 2.72615e-36 3.28632e-36 0.014410 1 0 BAZ2B 29994 broad.mit.edu 37 2 160204131 160204131 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr2:160204131C>T ENST00000392783.2 - 31 5815 c.5320G>A c.(5320-5322)Gaa>Aaa p.E1774K BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1738K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1740K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1674K NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1774 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TGGTTTTCTTCATTTTCATTC 0.343000 14 33 0 0 0.020292 0 0 DNAH5 1767 broad.mit.edu 37 5 13830755 13830755 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr5:13830755G>A ENST00000265104.4 - 36 6116 c.6012C>T c.(6010-6012)ttC>ttT p.F2004F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2004 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTGAACAATTGAAAACCACGA 0.473000 Kartagener syndrome 19 104 0 0 0.008871 0 0 LAMA1 284217 broad.mit.edu 37 18 6943269 6943269 + Missense_Mutation SNP C C A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr18:6943269C>A ENST00000389658.3 - 62 9070 c.8977G>T c.(8977-8979)Gtt>Ttt p.V2993F NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2993 Laminin G-like 5. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTCCCGTCAACAATCAGAGTG 0.488000 99 30 1.54295e-31 1.84734e-31 0.014410 1 0 LMBRD2 92255 broad.mit.edu 37 5 36111350 36111350 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr5:36111350G>A ENST00000296603.4 - 14 2113 c.1651C>T c.(1651-1653)Cgt>Tgt p.R551C NM_001007527.1 NP_001007528.1 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 551 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTCAAACAACGGGTTCCCAAA 0.313000 16 36 0 0 0.028581 0 0 TBR1 10716 broad.mit.edu 37 2 162274717 162274717 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr2:162274717C>T ENST00000389554.3 + 3 1170 c.853C>T c.(853-855)Cgg>Tgg p.R285W TBR1_ENST00000410035.1_5'UTR NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 285 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 TCTAGGAAATCGGGTCTATAT 0.478000 19 28 0 0 0.038395 0 0 PRG4 10216 broad.mit.edu 37 1 186275519 186275519 + Missense_Mutation SNP G G C rs28698702 TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr1:186275519G>C ENST00000445192.2 + 7 713 c.668G>C c.(667-669)gGa>gCa p.G223A PRG4_ENST00000367484.3_Missense_Mutation_p.G182A|PRG4_ENST00000367485.4_Missense_Mutation_p.G130A|PRG4_ENST00000367483.4_Missense_Mutation_p.G182A|PRG4_ENST00000367486.3_Missense_Mutation_p.G180A NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 223 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GATGAAGCTGGAAGTGGATTG 0.393000 57 206 0 0 0.014410 0 0 PAX3 5077 broad.mit.edu 37 2 223161823 223161823 + Missense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr2:223161823G>T ENST00000350526.4 - 2 331 c.195C>A c.(193-195)caC>caA p.H65Q PAX3_ENST00000409551.3_Missense_Mutation_p.H65Q|PAX3_ENST00000392070.2_Missense_Mutation_p.H65Q|PAX3_ENST00000409828.3_Missense_Mutation_p.H65Q|PAX3_ENST00000392069.2_Missense_Mutation_p.H65Q|PAX3_ENST00000344493.4_Missense_Mutation_p.H65Q|PAX3_ENST00000258387.5_Missense_Mutation_p.H65Q|PAX3_ENST00000336840.6_Missense_Mutation_p.H65Q NM_181457.3 NP_852122.1 P23760 PAX3_HUMAN paired box 3 65 Paired. Missing (in WS1). apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.H65H(1) PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749) NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1) 38 Renal(207;0.0183) Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942) GCCGGATGCCGTGGTGGGCCA 0.657000 T """FOXO1A, NCOA1""" alveolar rhabdomyosarcoma Waardenburg syndrome; craniofacial-deafness-hand syndrome 15 7 4.7546e-09 5.07158e-09 0.028581 1 0 SEMA6D 80031 broad.mit.edu 37 15 48063143 48063143 + Missense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr15:48063143G>T ENST00000316364.5 + 19 2822 c.2383G>T c.(2383-2385)Gcc>Tcc p.A795S SEMA6D_ENST00000536845.2_Missense_Mutation_p.A795S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.A739S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.A733S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.A733S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.A752S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.A720S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.A776S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.A733S NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 795 axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CTCAGAAAAGGCCCATGGCCA 0.542000 24 53 5.45024e-15 6.10982e-15 0.018920 1 0 C12orf68 387856 broad.mit.edu 37 12 48578417 48578417 + Missense_Mutation SNP A A G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr12:48578417A>G ENST00000316554.3 + 1 1052 c.512A>G c.(511-513)gAc>gGc p.D171G NM_001013635.3 NP_001013657.3 Q52MB2 CL068_HUMAN chromosome 12 open reading frame 68 171 cytoplasm central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1) 4 CTTGGGGGGGACGGGCCACTT 0.657000 2 5 0 0 0.004672 0 0 IRF4 3662 broad.mit.edu 37 6 407576 407576 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr6:407576G>A ENST00000380956.4 + 9 1460 c.1334G>A c.(1333-1335)cGc>cAc p.R445H NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 445 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) AGATCTATCCGCCATTCCTCT 0.373000 T IGH@ MM 21 49 0 0 0.012319 0 0 CD247 919 broad.mit.edu 37 1 167400951 167400951 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr1:167400951G>A ENST00000392122.3 - 8 603 c.459C>T c.(457-459)gaC>gaT p.D153D CD247_ENST00000483825.1_5'UTR|CD247_ENST00000362089.5_Silent_p.D154D NM_000734.3|NM_198053.2 NP_000725.1|NP_932170.1 P20963 CD3Z_HUMAN CD247 molecule 154 ITAM 3. interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytoplasm|integral to membrane protein homodimerization activity|transmembrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1) 6 LUSC - Lung squamous cell carcinoma(543;0.236) TGTGAAGGGCGTCGTAGGTGT 0.562000 8 211 0 0 0.004482 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174742 150174742 + Silent SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr7:150174742G>T ENST00000307271.3 + 5 2446 c.1872G>T c.(1870-1872)ctG>ctT p.L624L NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 624 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TCAATGATCTGAGAAAAGAAA 0.443000 25 103 2.44723e-14 2.70888e-14 0.024334 1 0 TTC21A 199223 broad.mit.edu 37 3 39170771 39170771 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr3:39170771G>A ENST00000301819.6 + 15 2306 c.2129G>A c.(2128-2130)aGa>aAa p.R710K TTC21A_ENST00000431162.2_Missense_Mutation_p.R709K|TTC21A_ENST00000440121.1_Missense_Mutation_p.R661K NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 709 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CAGACCCTCAGAGACAGGCGC 0.522000 67 52 0 0 0.014410 0 0 DNAH11 8701 broad.mit.edu 37 7 21730399 21730399 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr7:21730399G>A ENST00000328843.6 + 36 5993 c.5962G>A c.(5962-5964)Gaa>Aaa p.E1988K DNAH11_ENST00000409508.3_Missense_Mutation_p.E1981K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1988 AAA 1 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 ATTTCTTGGGGAAGCTATCAC 0.363000 Kartagener syndrome 48 194 0 0 0.014410 0 0 GRAMD4 23151 broad.mit.edu 37 22 47054120 47054120 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr22:47054120C>T ENST00000406902.1 + 4 533 c.320C>T c.(319-321)gCg>gTg p.A107V GRAMD4_ENST00000361034.3_Missense_Mutation_p.A107V Q6IC98 GRAM4_HUMAN GRAM domain containing 4 107 apoptosis integral to membrane|mitochondrial membrane breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 12 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) GAAACCAACGCGGAGATGCTG 0.657000 10 42 0 0 0.008291 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540507 169540507 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr3:169540507G>A ENST00000340806.6 + 1 798 c.798G>A c.(796-798)ggG>ggA p.G266G NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 266 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 GGCTGAGCGGGAACCGCCTGG 0.612000 7 114 0 0 0.029380 0 0 RPL13A 23521 broad.mit.edu 37 19 49993179 49993179 + Splice_Site SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr19:49993179G>A ENST00000391857.4 + 2 164 c.88_splice c.e2+1 p.G30_splice RPL13A_ENST00000477613.2_3'UTR NM_001270491.1|NM_012423.3 NP_001257420.1|NP_036555.1 P40429 RL13A_HUMAN ribosomal protein L13a 30 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome cervix(1)|endometrium(1) 2 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) GGTACTGCTGGGTAAGTCGCT 0.592000 38 100 0 0 0.027894 0 0 TMTC2 160335 broad.mit.edu 37 12 83324299 83324299 + Missense_Mutation SNP A A G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr12:83324299A>G ENST00000549919.1 + 5 3360 c.1555A>G c.(1555-1557)Aac>Gac p.N519D TMTC2_ENST00000321196.3_Missense_Mutation_p.N525D|TMTC2_ENST00000548305.1_Missense_Mutation_p.N525D Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 525 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 CTACCGCAGCAACATGGCTGA 0.433000 9 43 0 0 0.006214 0 0 FAM173B 134145 broad.mit.edu 37 5 10239377 10239377 + Nonsense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr5:10239377C>T ENST00000511437.1 - 2 120 c.108G>A c.(106-108)tgG>tgA p.W36* FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Nonsense_Mutation_p.W36* NM_199133.3 NP_954584.2 Q6P4H8 F173B_HUMAN family with sequence similarity 173, member B 36 integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 16 GTAAGAACCCCCAGTTGCTTT 0.478000 60 109 0 0 0.014410 0 0 LIPI 149998 broad.mit.edu 37 21 15538694 15538694 + Nonsense_Mutation SNP G G C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr21:15538694G>C ENST00000344577.2 - 5 810 c.785C>G c.(784-786)tCa>tGa p.S262* LIPI_ENST00000536861.1_Nonsense_Mutation_p.S241* NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 241 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TGAGAAAATTGATTTAGGACA 0.358000 21 57 0 0 0.018920 0 0 RCE1 9986 broad.mit.edu 37 11 66612403 66612403 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr11:66612403C>T ENST00000309657.3 + 5 559 c.515C>T c.(514-516)cCg>cTg p.P172L RCE1_ENST00000525356.1_Missense_Mutation_p.P49L|RCE1_ENST00000524506.1_Missense_Mutation_p.P172L NM_001032279.1|NM_005133.2 NP_001027450.1|NP_005124.1 Q9Y256 FACE2_HUMAN Ras converting CAAX endopeptidase 1 172 proteolysis endoplasmic reticulum membrane|integral to plasma membrane metalloendopeptidase activity breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 GTGATCGCCCCGCTGACAGAG 0.632000 21 10 0 0 0.008871 0 0 ELN 2006 broad.mit.edu 37 7 73477973 73477973 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr7:73477973C>T ENST00000252034.7 + 29 2340 c.1941C>T c.(1939-1941)ctC>ctT p.L647L ELN_ENST00000380576.5_Silent_p.L628L|ELN_ENST00000380584.4_Silent_p.L599L|ELN_ENST00000380553.4_Silent_p.L511L|ELN_ENST00000357036.5_Silent_p.L652L|ELN_ENST00000429192.1_Silent_p.L633L|ELN_ENST00000380575.4_Silent_p.L618L|ELN_ENST00000458204.1_Silent_p.L637L|ELN_ENST00000380562.4_Silent_p.L653L|ELN_ENST00000320399.6_Silent_p.L680L|ELN_ENST00000414324.1_Silent_p.L623L|ELN_ENST00000320492.7_Silent_p.L566L|ELN_ENST00000358929.4_Silent_p.L715L|ELN_ENST00000445912.1_Silent_p.L647L NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 709 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CCGCTGGGCTCGGAGGACTCG 0.602000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 58 86 0 0 0.014410 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176624 140176624 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr5:140176624C>T ENST00000526136.1 + 1 2075 c.2075C>T c.(2074-2076)aCg>aTg p.T692M PCDHA2_ENST00000520672.2_Missense_Mutation_p.T692M|PCDHA2_ENST00000378132.1_Missense_Mutation_p.T692M|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018905.2 NP_061728.1 p.T692M(2) NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGAGGCTACGCTGGTGGAT 0.647000 41 97 0 0 0.036044 0 0 OR13A1 79290 broad.mit.edu 37 10 45799805 45799805 + Silent SNP A A G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr10:45799805A>G ENST00000553795.1 - 4 374 c.66T>C c.(64-66)agT>agC p.S22S OR13A1_ENST00000536058.1_Silent_p.S22S|OR13A1_ENST00000374401.2_Silent_p.S22S NM_001004297.2 NP_001004297.2 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, member 1 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1) 19 ACGTCTGGTTACTCATCATCC 0.502000 23 60 0 0 0.021523 0 0 CECR2 27443 broad.mit.edu 37 22 18022469 18022469 + Missense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr22:18022469G>T ENST00000262608.8 + 15 2574 c.2574G>T c.(2572-2574)atG>atT p.M858I CECR2_ENST00000400585.2_Missense_Mutation_p.M716I|CECR2_ENST00000400573.4_Missense_Mutation_p.M857I NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 899 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) GGGACTCCATGATGGACAGCC 0.637000 26 61 2.44723e-14 2.70888e-14 0.024334 1 0 PPP1R2P1 100507444 broad.mit.edu 37 6 32847145 32847145 + RNA SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr6:32847145G>A ENST00000420261.1 - 0 480 TGTCTAGCTAGTTTGATATTG 0.383000 4 8 0 0 0.009096 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098962 178098962 + Missense_Mutation SNP A A G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr2:178098962A>G ENST00000397062.3 - 2 637 c.83T>C c.(82-84)aTa>aCa p.I28T NFE2L2_ENST00000423513.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000464747.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000446151.2_Missense_Mutation_p.I12T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.I12T NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 28 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.I28T(1) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCCAAGATCTATATCTTGCCT 0.358000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 19 14 0 0 0.010504 0 0 CDH23 64072 broad.mit.edu 37 10 73545397 73545397 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr10:73545397G>A ENST00000224721.6 + 43 5742 c.5737G>A c.(5737-5739)Gtc>Atc p.V1913I NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1908 Cadherin 18. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GACAGGGATCGTCACTGTGAA 0.582000 3 4 0 0 0.004672 0 0 SYT5 6861 broad.mit.edu 37 19 55687172 55687172 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr19:55687172G>A ENST00000354308.3 - 5 814 c.445C>T c.(445-447)Cgg>Tgg p.R149W SYT5_ENST00000590851.1_Missense_Mutation_p.R146W|SYT5_ENST00000537500.1_Missense_Mutation_p.R149W|CTD-2587H24.5_ENST00000591665.1_RNA NM_003180.2 NP_003171.2 O00445 SYT5_HUMAN synaptotagmin V 149 C2 1. energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) AGGTAGACCCGCACATAGGGG 0.622000 27 82 0 0 0.030593 0 0 EPHX4 253152 broad.mit.edu 37 1 92495663 92495663 + Silent SNP C C G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr1:92495663C>G ENST00000370383.4 + 1 125 c.27C>G c.(25-27)ccC>ccG p.P9P NM_173567.4 NP_775838.3 Q8IUS5 EPHX4_HUMAN epoxide hydrolase 4 9 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(3)|lung(8) 12 ATTGCCTGCCCCGCCTGATGC 0.701000 9 7 0 0 0.010729 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43927243 43927243 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr2:43927243C>T ENST00000282406.4 + 8 1256 c.1146C>T c.(1144-1146)tcC>tcT p.S382S NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 382 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AAGATAGTTCCTCGGATGAAC 0.403000 51 63 0 0 0.014410 0 0 FDFT1 2222 broad.mit.edu 37 8 11660408 11660408 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr8:11660408G>A ENST00000220584.4 + 1 289 c.67G>A c.(67-69)Ggc>Agc p.G23S FDFT1_ENST00000525900.1_Missense_Mutation_p.G23S|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Missense_Mutation_p.G23S|FDFT1_ENST00000538689.1_Intron NM_004462.3 NP_004453.3 P37268 FDFT_HUMAN farnesyl-diphosphate farnesyltransferase 1 23 cholesterol biosynthetic process|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2) 12 all_epithelial(15;0.234) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.18) CCGGATCGGGGGCAAGCGGAA 0.692000 4 15 0 0 0.009096 0 0 CACNA2D1 781 broad.mit.edu 37 7 81620503 81620503 + Nonsense_Mutation SNP G G C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr7:81620503G>C ENST00000356860.3 - 21 2132 c.1794C>G c.(1792-1794)taC>taG p.Y598* CACNA2D1_ENST00000356253.5_Nonsense_Mutation_p.Y617* NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 617 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TTAATTACCTGTAATCTGTGC 0.308000 17 32 0 0 0.033300 0 0 LETM2 137994 broad.mit.edu 37 8 38264944 38264944 + Nonsense_Mutation SNP C C A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr8:38264944C>A ENST00000379957.4 + 10 1503 c.1376C>A c.(1375-1377)tCa>tAa p.S459* LETM2_ENST00000524874.1_Nonsense_Mutation_p.S411*|LETM2_ENST00000527710.1_Nonsense_Mutation_p.S245*|LETM2_ENST00000297720.5_Nonsense_Mutation_p.S364*|LETM2_ENST00000523983.2_Nonsense_Mutation_p.S412* NM_001199659.1 NP_001186588.1 Q2VYF4 LETM2_HUMAN leucine zipper-EF-hand containing transmembrane protein 2 459 integral to membrane|mitochondrial inner membrane NS(1)|large_intestine(1)|lung(3)|prostate(2) 7 all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202) all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175) Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114) ACACCTATTTCATTACCTAAA 0.378000 30 89 3.1745e-13 3.47026e-13 0.037714 1 0 TTN 7273 broad.mit.edu 37 2 179517412 179517412 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr2:179517412G>A ENST00000589042.1 - 201 39235 c.39011C>T c.(39010-39012)cCt>cTt p.P13004L TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11346 Ig-like 86. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTTTTAGGAGGAGCCGAGGG 0.388000 92 140 0 0 0.014410 0 0 ATF7 11016 broad.mit.edu 37 12 53918430 53918430 + Missense_Mutation SNP C C A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr12:53918430C>A ENST00000420353.2 - 10 1192 c.1043G>T c.(1042-1044)cGc>cTc p.R348L ATF7_ENST00000548446.2_Missense_Mutation_p.R359L|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.R348L|ATF7_ENST00000456903.4_Missense_Mutation_p.R348L|ATF7_ENST00000415113.1_Missense_Mutation_p.R327L|ATF7_ENST00000546661.1_5'UTR|ATF7_ENST00000328463.7_Missense_Mutation_p.R359L NM_006856.2 NP_006847.1 P17544 ATF7_HUMAN activating transcription factor 7 359 Essential for binding adenovirus 2 E1A. interspecies interaction between organisms cytoplasm|nuclear periphery|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 TTGGCGGCAGCGGGAGGCTGC 0.607000 33 45 3.03874e-20 3.51854e-20 0.015359 1 0 FCF1 51077 broad.mit.edu 37 14 75182665 75182665 + Missense_Mutation SNP C C G rs114572906 by1000genomes TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr14:75182665C>G ENST00000341162.4 + 4 209 c.155C>G c.(154-156)cCt>cGt p.P52R FCF1_ENST00000553615.1_Missense_Mutation_p.P37R|FCF1_ENST00000534938.2_Missense_Mutation_p.P40R NM_015962.4 NP_057046.1 Q9Y324 FCF1_HUMAN FCF1 rRNA-processing protein 52 rRNA processing nucleolus breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.0037) CCCCAACACCCTTCCTGCTTA 0.373000 12 178 0 0 0.013537 0 0 CTNND2 1501 broad.mit.edu 37 5 11364898 11364898 + Missense_Mutation SNP C C T rs148824970 byFrequency TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr5:11364898C>T ENST00000304623.8 - 8 1471 c.1282G>A c.(1282-1284)Gtc>Atc p.V428I CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.V428I|CTNND2_ENST00000511377.1_Missense_Mutation_p.V337I|CTNND2_ENST00000503622.1_Missense_Mutation_p.V91I NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 428 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.V428I(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TTCTGATAGACGCGGTCTTCA 0.617000 15 59 0 0 0.033300 0 0 AVPR1B 553 broad.mit.edu 37 1 206224960 206224960 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr1:206224960C>T ENST00000367126.4 + 1 985 c.520C>T c.(520-522)Ctg>Ttg p.L174L NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 174 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) CATTTTTTCCCTGCGGGAGGT 0.647000 14 107 0 0 0.016723 0 0 CDK11B 984 broad.mit.edu 37 1 1586909 1586909 + Silent SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr1:1586909G>T ENST00000407249.3 - 2 140 c.141C>A c.(139-141)tcC>tcA p.S47S CDK11B_ENST00000317673.7_Silent_p.S47S|CDK11B_ENST00000341832.6_Silent_p.S13S|CDK11B_ENST00000340677.5_Silent_p.S47S P21127 CD11B_HUMAN cyclin-dependent kinase 11B 47 apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2) 12 cctcctcaagggaatcccgct 0.408000 18 14 1.40151e-16 1.59139e-16 0.010504 1 0 WEE2 494551 broad.mit.edu 37 7 141418927 141418927 + Missense_Mutation SNP A A T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr7:141418927A>T ENST00000397541.2 + 4 1047 c.641A>T c.(640-642)gAg>gTg p.E214V WEE2-AS1_ENST00000488785.1_RNA NM_001105558.1 NP_001099028.1 P0C1S8 WEE2_HUMAN WEE1 homolog 2 (S. pombe) 214 Protein kinase. egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) GAATTCTTGGAGGTTGAAAAA 0.353000 60 52 0 0 0.014410 0 0 LARP4B 23185 broad.mit.edu 37 10 931622 931622 + Nonsense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr10:931622G>A ENST00000316157.3 - 1 80 c.40C>T c.(40-42)Cag>Tag p.Q14* NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 14 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 CTCTGCGTCTGCGGTTCAGCC 0.512000 26 45 0 0 0.012213 0 0 SSTR4 6754 broad.mit.edu 37 20 23016973 23016973 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr20:23016973G>A ENST00000255008.3 + 1 917 c.853G>A c.(853-855)Gtg>Atg p.V285M RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 285 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity p.V285M(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) GAACCTCTTCGTGACCAGCCT 0.552000 42 127 0 0 0.036044 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73149358 73149358 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr4:73149358G>A ENST00000286657.4 - 22 3149 c.3113C>T c.(3112-3114)tCc>tTc p.S1038F NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 1038 PLAC. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ACCTGGTATGGAGCAGTATCG 0.418000 7 116 0 0 0.038147 0 0 TUBA3E 112714 broad.mit.edu 37 2 130951598 130951598 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr2:130951598C>T ENST00000312988.7 - 4 917 c.817G>A c.(817-819)Gcc>Acc p.A273T NM_207312.2 NP_997195.1 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 273 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2) 28 Colorectal(110;0.1) ATGACTGGGGCGTAGGTGGCC 0.597000 32 199 0 0 0.033182 0 0 DICER1 23405 broad.mit.edu 37 14 95584087 95584087 + Missense_Mutation SNP T T C rs141163928 TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr14:95584087T>C ENST00000526495.1 - 11 1672 c.1381A>G c.(1381-1383)Ata>Gta p.I461V DICER1_ENST00000541352.1_Missense_Mutation_p.I461V|DICER1_ENST00000393063.1_Missense_Mutation_p.I461V|DICER1_ENST00000343455.3_Missense_Mutation_p.I461V|DICER1_ENST00000527414.1_Missense_Mutation_p.I461V Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 461 Helicase C-terminal.|Required for interaction with PRKRA and TARBP2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GCTTCCTTTATCAATCTAAGA 0.348000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 8 43 0 0 0.038147 0 0 BPIFB4 149954 broad.mit.edu 37 20 31677343 31677343 + Missense_Mutation SNP G G C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr20:31677343G>C ENST00000375483.3 + 7 1030 c.1030G>C c.(1030-1032)Gac>Cac p.D344H NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 344 cytoplasm|extracellular region lipid binding TCTTGTCAATGACCAGCTGGG 0.582000 54 66 0 0 0.014410 0 0 UGT3A2 167127 broad.mit.edu 37 5 36049095 36049095 + Missense_Mutation SNP A A G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr5:36049095A>G ENST00000282507.3 - 4 840 c.739T>C c.(739-741)Tgg>Cgg p.W247R UGT3A2_ENST00000513300.1_Missense_Mutation_p.W213R|UGT3A2_ENST00000504954.1_Intron|UGT3A2_ENST00000545528.1_Intron NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 247 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTAATGAACCACAACTCTGCT 0.428000 66 77 0 0 0.014410 0 0 ABCG8 64241 broad.mit.edu 37 2 44078781 44078781 + Missense_Mutation SNP C C G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr2:44078781C>G ENST00000272286.2 + 4 471 c.381C>G c.(379-381)atC>atG p.I127M NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 127 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GCGGCAAGATCAAGTCAGGCC 0.602000 42 48 0 0 0.030466 0 0 FLG 2312 broad.mit.edu 37 1 152281214 152281214 + Missense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr1:152281214G>T ENST00000368799.1 - 3 6183 c.6148C>A c.(6148-6150)Cat>Aat p.H2050N FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2050 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTTCTGAATGTCCCTCACTG 0.562000 Ichthyosis 30 863 1.08312e-15 1.22198e-15 0.041601 1 0 KMT2D 8085 broad.mit.edu 37 12 49435964 49435964 + Nonsense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr12:49435964C>T ENST00000301067.7 - 28 6016 c.6017G>A c.(6016-6018)tGg>tAg p.W2006* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D ATCCTTCTCCCAGCGCTGAAG 0.582000 11 3 0 0 0.008291 0 0 SLC6A3 6531 broad.mit.edu 37 5 1416215 1416215 + Nonsense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr5:1416215G>T ENST00000270349.9 - 7 1156 c.1029C>A c.(1027-1029)taC>taA p.Y343* SLC6A3_ENST00000453492.2_Nonsense_Mutation_p.Y343* NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 343 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) GGGCTCACCTGTAGCAGTTGT 0.587000 14 57 1.05317e-09 1.14419e-09 0.020292 1 0 IL2 3558 broad.mit.edu 37 4 123377563 123377563 + Silent SNP T T C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr4:123377563T>C ENST00000226730.4 - 1 317 c.33A>G c.(31-33)gcA>gcG p.A11A NM_000586.3 NP_000577.2 P60568 IL2_HUMAN interleukin 2 11 anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity endometrium(2)|large_intestine(4)|lung(6)|skin(1) 13 LUSC - Lung squamous cell carcinoma(721;0.185) CAAGACTTAGTGCAATGCAAG 0.413000 T TNFRSF17 intestinal T-cell lymphoma 39 22 0 0 0.033182 0 0 SLC1A6 6511 broad.mit.edu 37 19 15072831 15072831 + Silent SNP C C A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr19:15072831C>A ENST00000598504.1 - 8 2277 c.918G>T c.(916-918)ctG>ctT p.L306L SLC1A6_ENST00000430939.2_Silent_p.L242L|SLC1A6_ENST00000600144.1_Silent_p.L306L|SLC1A6_ENST00000544886.2_Silent_p.L306L|SLC1A6_ENST00000221742.3_Silent_p.L306L NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 306 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) TGATGCCCACCAGCCTCATAA 0.572000 4 92 0.00909568 0.00920023 0.009096 1 0 SBK2 646643 broad.mit.edu 37 19 56042631 56042631 + Missense_Mutation SNP G G C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr19:56042631G>C ENST00000413299.1 - 3 372 c.335C>G c.(334-336)tCg>tGg p.S112W SBK2_ENST00000344158.3_Missense_Mutation_p.S112W NM_001101401.2 NP_001094871.2 P0C263 SBK2_HUMAN SH3 domain binding kinase family, member 2 112 Protein kinase. ATP binding|protein serine/threonine kinase activity endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 CGCGCCCAGCGAGAGCCCCAC 0.667000 5 24 0 0 0.014758 0 0 ZNF484 83744 broad.mit.edu 37 9 95609196 95609196 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr9:95609196C>T ENST00000395505.2 - 3 1857 c.1765G>A c.(1765-1767)Gta>Ata p.V589I ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000375495.3_Missense_Mutation_p.V625I|ZNF484_ENST00000395506.3_Missense_Mutation_p.V627I|ZNF484_ENST00000332591.6_Missense_Mutation_p.V589I NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 625 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 TGCTGATGTACGTGGAGCTGT 0.393000 25 41 0 0 0.016522 0 0 GLRA2 2742 broad.mit.edu 37 X 14748410 14748410 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chrX:14748410G>A ENST00000218075.4 + 9 1692 c.1162G>A c.(1162-1164)Gct>Act p.A388T GLRA2_ENST00000443437.2_Missense_Mutation_p.A299T|GLRA2_ENST00000355020.4_Missense_Mutation_p.A388T NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 388 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) AGATGGAACAGCTGTCAAGGC 0.473000 7 172 0 0 0.029380 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431883 140431883 + Silent SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr5:140431883G>T ENST00000306549.3 + 1 905 c.828G>T c.(826-828)gcG>gcT p.A276A NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 276 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCAACAAAGCGATAACTTACT 0.507000 7 31 0.00198382 0.00202995 0.029380 1 0 TTN 7273 broad.mit.edu 37 2 179463494 179463494 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr2:179463494C>T ENST00000589042.1 - 291 57167 c.56943G>A c.(56941-56943)gcG>gcA p.A18981A TTN_ENST00000342992.6_Silent_p.A16413A|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Silent_p.A10041A|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.A9916A|TTN_ENST00000591111.1_Silent_p.A17340A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.A10108A NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17340 Fibronectin type-III 37. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.A16411A(1)|p.A9916A(1)|p.A10108A(1)|p.A10041A(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCTAGCAGTCGCTGGGTCTG 0.418000 56 162 0 0 0.014410 0 0 GPC5 2262 broad.mit.edu 37 13 92380812 92380812 + Silent SNP A A T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr13:92380812A>T ENST00000377067.3 + 4 1419 c.1047A>T c.(1045-1047)gtA>gtT p.V349V GPC5_ENST00000483422.1_3'UTR NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 349 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GCCGCCCTGTAAGAACACCCA 0.423000 14 126 0 0 0.016723 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71532547 71532547 + Silent SNP G G A rs61752951 byFrequency TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr9:71532547G>A ENST00000265382.3 + 9 1160 c.855G>A c.(853-855)gaG>gaA p.E285E PIP5K1B_ENST00000541509.1_Silent_p.E285E NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 285 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) AGAAAGAGGAGGAGACCCCAC 0.463000 10 215 0 0 0.006214 0 0 WASH4P 374677 broad.mit.edu 37 16 67048 67048 + Nonsense_Mutation SNP G G C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr16:67048G>C ENST00000326592.9 - 5 1246 c.588C>G c.(586-588)taC>taG p.Y196* CATACTTCTTGTACCTACAGA 0.577000 4 28 0 0 0.014758 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134473675 134473675 + Missense_Mutation SNP G G C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr9:134473675G>C ENST00000372195.1 - 13 2260 c.2017C>G c.(2017-2019)Ctg>Gtg p.L673V RAPGEF1_ENST00000372189.3_Missense_Mutation_p.L656V|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.L674V Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 656 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) GCCGACTCCAGAGCATCTGGT 0.582000 10 16 0 0 0.006214 0 0 NXPH1 30010 broad.mit.edu 37 7 8790658 8790658 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr7:8790658G>A ENST00000405863.1 + 3 986 c.75G>A c.(73-75)acG>acA p.T25T NXPH1_ENST00000602349.1_5'UTR|NXPH1_ENST00000497400.1_3'UTR NM_152745.2 NP_689958.1 P58417 NXPH1_HUMAN neurexophilin 1 25 II. extracellular region breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1) 17 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) CCAATTTAACGAACGGTGGAA 0.423000 69 71 0 0 0.014410 0 0 SERPINC1 462 broad.mit.edu 37 1 173881055 173881055 + Missense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr1:173881055G>T ENST00000367698.3 - 3 624 c.506C>A c.(505-507)tCc>tAc p.S169Y NM_000488.3 NP_000479.1 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C (antithrombin), member 1 169 blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1) 25 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) TAACTTGGAGGATTTGTTGGC 0.423000 18 186 7.07596e-05 7.36905e-05 0.038395 1 0 NOS2 4843 broad.mit.edu 37 17 26114800 26114800 + Missense_Mutation SNP C C T rs148763708 byFrequency TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr17:26114800C>T ENST00000313735.6 - 5 604 c.371G>A c.(370-372)aGt>aAt p.S124N NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 124 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TCTGGTCAAACTTTTGGGAGT 0.498000 6 164 0 0 0.021553 0 0 OSR1 130497 broad.mit.edu 37 2 19552911 19552911 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr2:19552911C>T ENST00000536433.1 - 1 3766 c.656G>A c.(655-657)cGa>cAa p.R219Q OSR1_ENST00000272223.2_Missense_Mutation_p.R219Q Q8TAX0 OSR1_HUMAN odd-skipped related transciption factor 1 219 chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development nucleolus nucleic acid binding|zinc ion binding breast(1)|large_intestine(2)|lung(4)|ovary(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) Acute lymphoblastic leukemia(84;0.221) CCTGTGGTCTCGCAGGTGGTC 0.597000 48 65 0 0 0.014410 0 0 DKK3 27122 broad.mit.edu 37 11 12030045 12030045 + Missense_Mutation SNP A A T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr11:12030045A>T ENST00000396505.2 - 2 323 c.85T>A c.(85-87)Tcg>Acg p.S29T DKK3_ENST00000326932.4_Missense_Mutation_p.S29T|DKK3_ENST00000525493.1_Missense_Mutation_p.S29T|DKK3_ENST00000527132.1_5'UTR|DKK3_ENST00000450094.2_Missense_Mutation_p.S29T NM_015881.5 NP_056965.3 Q9UBP4 DKK3_HUMAN dickkopf WNT signaling pathway inhibitor 3 29 O-glycosylated at one site. adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway extracellular space breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1) 8 Epithelial(150;0.000502) ACTGGAGCCGAGGTCGCCGTC 0.716000 3 13 0 0 0.009096 0 0 MAGI1 9223 broad.mit.edu 37 3 65376930 65376930 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr3:65376930G>A ENST00000330909.8 - 14 2302 c.2303C>T c.(2302-2304)cCc>cTc p.P768L MAGI1_ENST00000497477.2_Missense_Mutation_p.P768L|MAGI1_ENST00000402939.2_Missense_Mutation_p.P768L|MAGI1_ENST00000483466.1_Missense_Mutation_p.P768L NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 768 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TGGGAACTCGGGGAGCACCTG 0.547000 54 25 0 0 0.014410 0 0 SPAM1 6677 broad.mit.edu 37 7 123593871 123593871 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr7:123593871G>A ENST00000340011.5 + 3 604 c.247G>A c.(247-249)Gcc>Acc p.A83T SPAM1_ENST00000460182.1_Missense_Mutation_p.A83T|SPAM1_ENST00000223028.7_Missense_Mutation_p.A83T|SPAM1_ENST00000439500.1_Missense_Mutation_p.A83T|SPAM1_ENST00000402183.2_Missense_Mutation_p.A83T NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 83 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) CCGAATAAACGCCACCGGGCA 0.443000 26 33 0 0 0.018920 0 0 HHIP 64399 broad.mit.edu 37 4 145581029 145581029 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr4:145581029C>T ENST00000434550.2 + 4 1374 c.870C>T c.(868-870)taC>taT p.Y290Y HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000296575.3_Intron Q96QV1 HHIP_HUMAN hedgehog interacting protein 155 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) GTGCTGGCTACGTTAATTTTA 0.313000 5 10 0 0 0.014758 0 0 KIAA1522 57648 broad.mit.edu 37 1 33235551 33235551 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr1:33235551C>T ENST00000401073.2 + 6 841 c.771C>T c.(769-771)ccC>ccT p.P257P KIAA1522_ENST00000373481.3_Silent_p.P209P|KIAA1522_ENST00000373480.1_Silent_p.P198P|KIAA1522_ENST00000294521.3_Intron NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 198 breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TACGCATCCCCACAGTGGACG 0.721000 13 14 0 0 0.013537 0 0 KCNK13 56659 broad.mit.edu 37 14 90650616 90650616 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr14:90650616C>T ENST00000282146.4 + 2 937 c.496C>T c.(496-498)Cgg>Tgg p.R166W NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 166 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) GCGGCAGCTCCGGAGACGAGG 0.612000 5 76 0 0 0.021553 0 0 KCNG2 26251 broad.mit.edu 37 18 77659522 77659522 + Silent SNP C C T rs3744887 TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr18:77659522C>T ENST00000316249.3 + 2 1107 c.1107C>T c.(1105-1107)acC>acT p.T369T KCNG2_ENST00000590307.1_3'UTR NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 369 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCATGACCACCGTGGGCTACG 0.706000 25 15 0 0 0.024334 0 0 DNAJB9 4189 broad.mit.edu 37 7 108213555 108213555 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr7:108213555C>T ENST00000249356.3 + 3 976 c.430C>T c.(430-432)Cgc>Tgc p.R144C DNAJB9_ENST00000465725.1_Intron NM_012328.2 NP_036460.1 Q9UBS3 DNJB9_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 9 144 ER-associated protein catabolic process|protein folding endoplasmic reticulum|nucleolus heat shock protein binding|misfolded protein binding|unfolded protein binding p.R144C(1) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 13 TTTCCAGACACGCCAGGATGG 0.348000 21 62 0 0 0.010504 0 0 DNAJC14 85406 broad.mit.edu 37 12 56221350 56221350 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr12:56221350G>A ENST00000357606.3 - 3 1382 c.1093C>T c.(1093-1095)Ctc>Ttc p.L365F DNAJC14_ENST00000317287.5_Missense_Mutation_p.L365F|DNAJC14_ENST00000317269.3_Missense_Mutation_p.L365F Q6Y2X3 DJC14_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 14 365 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1) 23 CAAGAGAAGAGCCAGGTAGCC 0.567000 22 70 0 0 0.010504 0 0 COPB1 1315 broad.mit.edu 37 11 14504607 14504607 + Missense_Mutation SNP C C G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr11:14504607C>G ENST00000249923.3 - 8 1228 c.928G>C c.(928-930)Gag>Cag p.E310Q COPB1_ENST00000439561.2_Missense_Mutation_p.E310Q NM_016451.4 NP_057535.1 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 310 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 GCAGGATGCTCTTTTAATTCT 0.333000 27 5 0 0 0.034045 0 0 FNDC9 408263 broad.mit.edu 37 5 156770492 156770492 + Nonsense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr5:156770492G>T ENST00000312349.4 - 2 240 c.53C>A c.(52-54)tCg>tAg p.S18* CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000435847.2_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000377576.3_Intron NM_001001343.3 NP_001001343.2 Q8TBE3 FNDC9_HUMAN fibronectin type III domain containing 9 18 Fibronectin type-III. integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 9 CTCCGAGGACGACCAGGAGAT 0.498000 16 42 3.57192e-18 4.0822e-18 0.038395 1 0 TICAM1 148022 broad.mit.edu 37 19 4816803 4816803 + Missense_Mutation SNP C C A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr19:4816803C>A ENST00000248244.5 - 2 1816 c.1587G>T c.(1585-1587)aaG>aaT p.K529N NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 529 Sufficient to induce apoptosis. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GCCTGTGGGGCTTGAAGGTGT 0.657000 13 23 7.93312e-07 8.36065e-07 0.020292 1 0 SHOX2 6474 broad.mit.edu 37 3 157820514 157820514 + Nonsense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr3:157820514G>A ENST00000490689.2 - 2 1654 c.121C>T c.(121-123)Cga>Tga p.R41* SHOX2_ENST00000483851.2_Nonsense_Mutation_p.R170*|SHOX2_ENST00000441443.2_Nonsense_Mutation_p.R41*|SHOX2_ENST00000425436.3_Nonsense_Mutation_p.R170*|SHOX2_ENST00000554685.1_5'UTR|SHOX2_ENST00000389589.4_Nonsense_Mutation_p.R194* O60902 SHOX2_HUMAN short stature homeobox 2 170 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) AGTTCCTCTCGCATGAAGGCG 0.597000 23 246 0 0 0.016522 0 0 CYP4F12 66002 broad.mit.edu 37 19 15784508 15784508 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr19:15784508C>T ENST00000550308.1 + 2 549 c.169C>T c.(169-171)Cgg>Tgg p.R57W CYP4F12_ENST00000324632.9_Missense_Mutation_p.R57W NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GCCCCCAAAACGGAACTGGTT 0.592000 6 123 0 0 0.021553 0 0 ATP9A 10079 broad.mit.edu 37 20 50234077 50234077 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr20:50234077G>A ENST00000338821.5 - 22 2631 c.2367C>T c.(2365-2367)gaC>gaT p.D789D ATP9A_ENST00000402822.1_Silent_p.D668D|ATP9A_ENST00000311637.5_Silent_p.D653D NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 789 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 breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TCATGCTGACGTCATTGCCTC 0.498000 6 11 0 0 0.038147 0 0 FEZF1 389549 broad.mit.edu 37 7 121943848 121943848 + Missense_Mutation SNP C C G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr7:121943848C>G ENST00000442488.2 - 1 711 c.644G>C c.(643-645)gGa>gCa p.G215A FEZF1_ENST00000331178.4_Missense_Mutation_p.G215A|FEZF1_ENST00000427185.2_Missense_Mutation_p.G165A|FEZF1-AS1_ENST00000428449.1_RNA NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 215 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 GAAAGCTACTCCAGAAGGGTA 0.507000 23 55 0 0 0.016522 0 0 TAOK2 9344 broad.mit.edu 37 16 29993064 29993064 + Missense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr16:29993064G>T ENST00000308893.4 + 9 1781 c.738G>T c.(736-738)caG>caT p.Q246H TAOK2_ENST00000543033.1_Missense_Mutation_p.Q246H|TAOK2_ENST00000416441.2_Missense_Mutation_p.Q73H|TAOK2_ENST00000279394.3_Missense_Mutation_p.Q246H NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 246 Protein kinase. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CCGTGCTCCAGTCAGGACACT 0.542000 14 59 7.93312e-07 8.36065e-07 0.020292 1 0 PLCB1 23236 broad.mit.edu 37 20 8745992 8745992 + Missense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr20:8745992G>T ENST00000378641.3 + 26 3392 c.2917G>T c.(2917-2919)Gac>Tac p.D973Y PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.D973Y|PLCB1_ENST00000338037.6_Missense_Mutation_p.D973Y NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 973 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CGCCAAAAAGGACAGTAAGAA 0.328000 31 27 7.63505e-26 9.01858e-26 0.012213 1 0 CCT6A 908 broad.mit.edu 37 7 56120139 56120139 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr7:56120139C>T ENST00000275603.4 + 2 381 c.162C>T c.(160-162)atC>atT p.I54I CCT6A_ENST00000540286.1_Silent_p.I23I|CCT6A_ENST00000335503.3_Silent_p.I54I NM_001762.3 NP_001753.1 P40227 TCPZ_HUMAN chaperonin containing TCP1, subunit 6A (zeta 1) 54 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 15 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CTGGAGACATCAAACTTACTA 0.423000 48 88 0 0 0.014410 0 0 F13A1 2162 broad.mit.edu 37 6 6266932 6266932 + Silent SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr6:6266932G>T ENST00000264870.3 - 4 695 c.430C>A c.(430-432)Cgg>Agg p.R144R NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 144 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) ATGGACAGCCGCACAGACCTG 0.512000 20 43 3.99206e-14 4.39126e-14 0.043863 1 0 ABCA5 23461 broad.mit.edu 37 17 67302927 67302927 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr17:67302927C>T ENST00000392676.3 - 6 791 c.727G>A c.(727-729)Gaa>Aaa p.E243K ABCA5_ENST00000588877.1_Missense_Mutation_p.E243K|ABCA5_ENST00000392677.2_Missense_Mutation_p.E243K Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 243 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) TTTTCTTTTTCTGCTACGATA 0.254000 13 32 0 0 0.013537 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171849445 171849445 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr5:171849445C>T ENST00000311601.5 - 2 301 c.131G>A c.(130-132)cGc>cAc p.R44H SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.R44H NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 44 PX. adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTTGCTGTAGCGCCGGTAAAT 0.517000 6 11 0 0 0.021553 0 0 ZDHHC23 254887 broad.mit.edu 37 3 113672830 113672830 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr3:113672830C>T ENST00000330212.3 + 3 744 c.445C>T c.(445-447)Ctg>Ttg p.L149L ZDHHC23_ENST00000498275.1_Silent_p.L143L NM_173570.3 NP_775841.2 Q8IYP9 ZDH23_HUMAN zinc finger, DHHC-type containing 23 149 integral to membrane acyltransferase activity|zinc ion binding p.L149V(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2) 16 ACTGTTCTCTCTGGGCTACAT 0.522000 34 96 0 0 0.045705 0 0 RASGRP2 10235 broad.mit.edu 37 11 64510284 64510284 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr11:64510284C>T ENST00000377494.1 - 1 977 c.55G>A c.(55-57)Ggg>Agg p.G19R RASGRP2_ENST00000377486.3_Missense_Mutation_p.G19R|RASGRP2_ENST00000377487.1_Missense_Mutation_p.G19R|RASGRP2_ENST00000394429.1_Missense_Mutation_p.G19R|RASGRP2_ENST00000377489.1_Missense_Mutation_p.G19R|RASGRP2_ENST00000394432.3_Missense_Mutation_p.G19R|RASGRP2_ENST00000394428.1_Missense_Mutation_p.G19R|RASGRP2_ENST00000377497.3_Missense_Mutation_p.G19R|RASGRP2_ENST00000394430.1_Missense_Mutation_p.G19R|RASGRP2_ENST00000354024.3_Missense_Mutation_p.G19R Q7LDG7 GRP2_HUMAN RAS guanyl releasing protein 2 (calcium and DAG-regulated) 19 N-terminal Ras-GEF. platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction cell junction|cytosol|ruffle membrane|synapse|synaptosome calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 TCGATGCACCCGCGGAGCAGC 0.731000 3 9 0 0 0.009096 0 0 ASB9 140462 broad.mit.edu 37 X 15270437 15270437 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chrX:15270437G>A ENST00000546332.1 - 5 855 c.372C>T c.(370-372)caC>caT p.H124H ASB9_ENST00000380485.3_Silent_p.H124H|ASB9_ENST00000380483.3_Silent_p.H124H|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380488.4_Silent_p.H124H NM_001168531.1 NP_001162003.1 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box containing 9 124 intracellular signal transduction breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10) 15 Hepatocellular(33;0.183) CGCTGGCTCCGTGCTGCAGAA 0.488000 46 13 0 0 0.014410 0 0 TMEM26 219623 broad.mit.edu 37 10 63170317 63170317 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr10:63170317G>A ENST00000399298.3 - 6 1238 c.870C>T c.(868-870)gcC>gcT p.A290A TMEM26_ENST00000507507.1_5'UTR NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 290 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) AGTTCTTCGCGGCAAAGAACA 0.507000 3 46 0 0 0.004672 0 0 DOT1L 84444 broad.mit.edu 37 19 2223362 2223362 + Missense_Mutation SNP A A G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr19:2223362A>G ENST00000398665.3 + 25 3509 c.3473A>G c.(3472-3474)cAg>cGg p.Q1158R NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 1158 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGCCCTACCAGGACCACGAC 0.622000 11 62 0 0 0.010729 0 0 FUT5 2527 broad.mit.edu 37 19 5867388 5867388 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr19:5867388C>T ENST00000252675.5 - 5 911 c.349G>A c.(349-351)Gac>Aac p.D117N FUT5_ENST00000588525.1_Missense_Mutation_p.D117N Q11128 FUT5_HUMAN fucosyltransferase 5 (alpha (1,3) fucosyltransferase) 117 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 ATGACCGCGTCTGCCTGTGGG 0.642000 21 38 0 0 0.012319 0 0 EXT2 2132 broad.mit.edu 37 11 44146485 44146485 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr11:44146485G>A ENST00000395673.3 + 5 1045 c.989G>A c.(988-990)cGt>cAt p.R330H EXT2_ENST00000358681.4_Missense_Mutation_p.R297H|EXT2_ENST00000343631.3_Missense_Mutation_p.R297H|EXT2_ENST00000533608.1_Missense_Mutation_p.R297H NM_000401.3 NP_000392.3 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 297 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 CTTTCTGTCCGTAAGCGCTGC 0.502000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 19 75 0 0 0.008871 0 0 OR52N1 79473 broad.mit.edu 37 11 5809550 5809550 + Missense_Mutation SNP T T C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr11:5809550T>C ENST00000317078.1 - 1 496 c.497A>G c.(496-498)aAg>aGg p.K166R TRIM5_ENST00000380027.1_Intron NM_001001913.1 NP_001001913.1 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, member 1 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) TGGAAGGCGCTTGGTGAGGAA 0.488000 15 32 0 0 0.024245 0 0 TTLL9 164395 broad.mit.edu 37 20 30486334 30486334 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr20:30486334C>T ENST00000375938.4 + 4 425 c.172C>T c.(172-174)Ctt>Ttt p.L58F TTLL9_ENST00000375922.4_Missense_Mutation_p.L8F|TTLL9_ENST00000375921.2_Missense_Mutation_p.L8F|TTLL9_ENST00000310998.4_Missense_Mutation_p.L8F|TTLL9_ENST00000375934.4_Missense_Mutation_p.L40F|TTLL9_ENST00000535842.1_Missense_Mutation_p.L58F Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 58 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CATGGACGTCCTTCGCCACAG 0.522000 24 45 0 0 0.024334 0 0 MGAM 8972 broad.mit.edu 37 7 141721402 141721402 + Missense_Mutation SNP A A C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr7:141721402A>C ENST00000475668.2 + 6 629 c.575A>C c.(574-576)aAt>aCt p.N192T MGAM_ENST00000549489.2_Missense_Mutation_p.N192T O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 192 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GACCAAACCAATAACAGGTTT 0.433000 10 33 0 0 0.006214 0 0 RHOBTB2 23221 broad.mit.edu 37 8 22864371 22864371 + Nonsense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr8:22864371C>T ENST00000251822.6 + 5 1150 c.613C>T c.(613-615)Cga>Tga p.R205* RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000519685.1_Nonsense_Mutation_p.R227*|RHOBTB2_ENST00000522948.1_Nonsense_Mutation_p.R212*|RP11-875O11.1_ENST00000523884.1_RNA NM_015178.2 NP_055993.2 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 205 Rho-like. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 31 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CAACGCCATCCGAGCTGCACT 0.632000 29 56 0 0 0.030593 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590512 140590512 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr5:140590512C>T ENST00000239450.2 + 1 2222 c.2033C>T c.(2032-2034)cCg>cTg p.P678L PCDHB12_ENST00000541609.1_Missense_Mutation_p.P341L NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 678 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGGCGGCCCCGGCCCAGGCC 0.692000 11 148 0 0 0.013537 0 0 MFAP5 8076 broad.mit.edu 37 12 8800752 8800752 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr12:8800752G>A ENST00000359478.2 - 10 644 c.457C>T c.(457-459)Cgc>Tgc p.R153C MFAP5_ENST00000396549.2_Missense_Mutation_p.R143C|MFAP5_ENST00000433590.2_Missense_Mutation_p.R128C|MFAP5_ENST00000535336.1_Missense_Mutation_p.R89C|MFAP5_ENST00000540087.1_Missense_Mutation_p.R143C|MFAP5_ENST00000543369.1_Missense_Mutation_p.R131C NM_003480.2 NP_003471.1 Q13361 MFAP5_HUMAN microfibrillar associated protein 5 153 microfibril extracellular matrix structural constituent p.R153C(1) breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1) 13 Lung SC(5;0.184) TAATTGGAGCGACGGAGTCTC 0.458000 27 56 0 0 0.041601 0 0 ZNF713 349075 broad.mit.edu 37 7 56007358 56007358 + Nonsense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr7:56007358C>T ENST00000429591.2 + 4 990 c.952C>T c.(952-954)Caa>Taa p.Q318* MRPS17_ENST00000426595.1_Intron NM_182633.1 NP_872439.1 Q8N859 ZN713_HUMAN zinc finger protein 713 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ATCCTTTACTCAACATCTGAG 0.398000 39 147 0 0 0.027894 0 0 TOX 9760 broad.mit.edu 37 8 59764139 59764139 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr8:59764139C>T ENST00000361421.1 - 4 857 c.637G>A c.(637-639)Gca>Aca p.A213T NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 213 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) GAAGGAGTTGCAGACTTGCTT 0.438000 15 79 0 0 0.038395 0 0 RUSC1 23623 broad.mit.edu 37 1 155292476 155292476 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr1:155292476C>T ENST00000368352.5 + 2 1063 c.912C>T c.(910-912)agC>agT p.S304S RUSC1_ENST00000368354.3_Silent_p.S304S|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 304 cytoplasm|nucleolus SH3/SH2 adaptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) GTGACGTCAGCGAGGAGCCGG 0.557000 35 117 0 0 0.013726 0 0 TUBB8P7 197331 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr16:90161926T>C ENST00000564451.1 + 0 1279 TUBB8P7_ENST00000567960.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 3 36 0 0 0.021553 0 0 ZNF514 84874 broad.mit.edu 37 2 95815453 95815453 + Silent SNP G G C rs140564139 TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr2:95815453G>C ENST00000295208.2 - 5 1239 c.777C>G c.(775-777)ccC>ccG p.P259P ZNF514_ENST00000411425.1_Silent_p.P259P NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 259 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 TGCATTCATAGGGCTTTTCTC 0.418000 30 130 0 0 0.034045 0 0 TNKS 8658 broad.mit.edu 37 8 9588487 9588487 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr8:9588487G>A ENST00000310430.6 + 14 2115 c.2089G>A c.(2089-2091)Gtg>Atg p.V697M TNKS_ENST00000518281.1_Missense_Mutation_p.V460M NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 697 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) CTACAACCGCGTGTCTGTTGT 0.502000 33 6 0 0 0.045705 0 0 TRA2A 29896 broad.mit.edu 37 7 23561437 23561437 + Missense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr7:23561437G>T ENST00000297071.4 - 2 275 c.59C>A c.(58-60)tCt>tAt p.S20Y TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_5'UTR NM_013293.3 NP_037425.1 Q13595 TRA2A_HUMAN transformer 2 alpha homolog (Drosophila) 20 nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|RNA binding endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 TCCCGTTGGAGATTTTGACTG 0.433000 17 89 5.3912e-06 5.64793e-06 0.038395 1 0 FAM104A 84923 broad.mit.edu 37 17 71223343 71223343 + Silent SNP A A G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr17:71223343A>G ENST00000405159.3 - 2 346 c.282T>C c.(280-282)agT>agC p.S94S FAM104A_ENST00000403627.3_Silent_p.S94S|FAM104A_ENST00000580032.1_5'UTR|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000581110.1_Intron NM_001098832.1 NP_001092302.1 Q969W3 F104A_HUMAN family with sequence similarity 104, member A 94 Ser-rich. endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 LUSC - Lung squamous cell carcinoma(166;0.197) GGTTTCTGCTACTTCTTTTGG 0.408000 20 103 0 0 0.014323 0 0 N4BP2 55728 broad.mit.edu 37 4 40122594 40122594 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr4:40122594G>A ENST00000261435.6 + 9 3279 c.2863G>A c.(2863-2865)Gaa>Aaa p.E955K NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 955 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 GCTGCTCAGTGAAATGACCTG 0.438000 28 36 0 0 0.034045 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 159605682 159605682 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr3:159605682C>T ENST00000337808.6 + 5 1759 c.1182C>T c.(1180-1182)ccC>ccT p.P394P IQCJ-SCHIP1_ENST00000485419.1_Silent_p.P470P|IQCJ-SCHIP1_ENST00000527095.1_Silent_p.P162P|IQCJ-SCHIP1_ENST00000412423.2_Silent_p.P381P|IQCJ-SCHIP1_ENST00000460298.1_Silent_p.P354P|SCHIP1_ENST00000482804.1_Silent_p.P167P|SCHIP1_ENST00000445224.2_Silent_p.P151P|IQCJ-SCHIP1_ENST00000476809.1_Silent_p.P443P NM_001197107.1|NM_014575.3 NP_001184036.1|NP_055390.1 Q9P0W5 SCHI1_HUMAN 394 cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 AAAAGTCTCCCGTCGCTGATC 0.458000 21 97 0 0 0.014323 0 0 HOGA1 112817 broad.mit.edu 37 10 99371333 99371333 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr10:99371333C>T ENST00000370646.4 + 7 1262 c.901C>T c.(901-903)Ccc>Tcc p.P301S HOGA1_ENST00000370647.4_Missense_Mutation_p.P138S|PI4K2A_ENST00000370649.3_Intron|PI4K2A_ENST00000555577.1_Intron NM_138413.3 NP_612422.2 4-hydroxy-2-oxoglutarate aldolase 1 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1) 14 CTATGGAGGCCCCTGCCGCGC 0.612000 17 31 0 0 0.033300 0 0 NXF1 10482 broad.mit.edu 37 11 62571396 62571396 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr11:62571396G>A ENST00000531709.2 - 2 196 c.83C>T c.(82-84)cCc>cTc p.P28L NXF1_ENST00000532297.1_Missense_Mutation_p.P28L|NXF1_ENST00000439713.2_Missense_Mutation_p.P28L|NXF1_ENST00000531131.1_Intron|NXF1_ENST00000294172.2_Missense_Mutation_p.P28L NM_001081491.1 NP_001074960.1 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 28 Interaction with THOC4. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCACCGGAAGGGACCCCGGCC 0.473000 96 183 0 0 0.014410 0 0 F11 2160 broad.mit.edu 37 4 187205256 187205256 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr4:187205256C>T ENST00000264692.4 + 11 1323 c.990C>T c.(988-990)acC>acT p.T330T F11_ENST00000403665.2_Silent_p.T382T P03951 FA11_HUMAN coagulation factor XI 382 Apple 4. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) AGTGTACCACCAAAATCAAGC 0.502000 32 27 0 0 0.025465 0 0 DNAH8 1769 broad.mit.edu 37 6 38951989 38951989 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr6:38951989C>T ENST00000359357.3 + 85 12562 c.12308C>T c.(12307-12309)tCa>tTa p.S4103L DNAH8_ENST00000441566.1_Missense_Mutation_p.S4067L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AAGGGTGTATCATGGAATACG 0.373000 11 45 0 0 0.016723 0 0 CHST15 51363 broad.mit.edu 37 10 125771991 125771991 + Missense_Mutation SNP C C G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr10:125771991C>G ENST00000346248.5 - 7 1995 c.1353G>C c.(1351-1353)agG>agC p.R451S CHST15_ENST00000435907.1_Missense_Mutation_p.R451S NM_001270764.1|NM_015892.3 NP_001257693.1|NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 451 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 CAACCTGGAGCCTCACCTAGG 0.493000 8 18 0 0 0.038147 0 0 ZNF514 84874 broad.mit.edu 37 2 95815442 95815442 + Missense_Mutation SNP C C A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr2:95815442C>A ENST00000295208.2 - 5 1250 c.788G>T c.(787-789)aGt>aTt p.S263I ZNF514_ENST00000411425.1_Missense_Mutation_p.S263I NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 263 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 CCCACATTCACTGCATTCATA 0.433000 26 115 3.01185e-09 3.23223e-09 0.021523 1 0 TIMELESS 8914 broad.mit.edu 37 12 56815168 56815168 + Silent SNP C C T rs113553695 TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr12:56815168C>T ENST00000229201.4 - 23 2986 c.2832G>A c.(2830-2832)aaG>aaA p.K944K TIMELESS_ENST00000553532.1_Silent_p.K945K|TIMELESS_ENST00000554616.1_Silent_p.K442K NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 945 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 TCTGCCGTTTCTTGTACAGCT 0.527000 75 66 0 0 0.014410 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215817 140215817 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr5:140215817G>A ENST00000525929.1 + 1 1849 c.1849G>A c.(1849-1851)Ggt>Agt p.G617S PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.G617S|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGCGGCCGGTGCGAGCAT 0.642000 28 41 0 0 0.030593 0 0 CNGB3 54714 broad.mit.edu 37 8 87660048 87660048 + Missense_Mutation SNP C C G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr8:87660048C>G ENST00000320005.5 - 8 1018 c.971G>C c.(970-972)aGa>aCa p.R324T NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 324 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 CCTATTTGCTCTAAACATTGG 0.294000 26 114 0 0 0.024334 0 0 IFNK 56832 broad.mit.edu 37 9 27524569 27524569 + Missense_Mutation SNP A A G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr9:27524569A>G ENST00000276943.2 + 1 258 c.235A>G c.(235-237)Atg>Gtg p.M79V MOB3B_ENST00000262244.5_Intron NM_020124.2 NP_064509.2 Q9P0W0 IFNK_HUMAN interferon, kappa 79 cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus extracellular space cytokine activity|interferon-alpha/beta receptor binding large_intestine(1) 1 all_neural(11;7.9e-11) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158) CACCCAACCTATGAAGAGGGA 0.423000 32 82 0 0 0.015359 0 0 TRPM3 80036 broad.mit.edu 37 9 73151427 73151427 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr9:73151427G>A ENST00000377110.2 - 25 4809 c.4566C>T c.(4564-4566)agC>agT p.S1522S TRPM3_ENST00000423814.3_Silent_p.S1549S|TRPM3_ENST00000377105.1_Silent_p.S1381S|TRPM3_ENST00000408909.2_Silent_p.S1381S|TRPM3_ENST00000358082.3_Silent_p.S1384S|TRPM3_ENST00000396280.5_Silent_p.S1371S|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000396285.1_Silent_p.S1381S|TRPM3_ENST00000360823.2_Silent_p.S1384S|TRPM3_ENST00000396292.4_Silent_p.S1394S|TRPM3_ENST00000357533.2_Silent_p.S1526S|TRPM3_ENST00000377106.1_Silent_p.S1394S NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1547 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 AAAACATAAAGCTATGAGATT 0.458000 59 30 0 0 0.014410 0 0 NSUN4 387338 broad.mit.edu 37 1 46810800 46810800 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr1:46810800C>T ENST00000474844.1 + 2 1071 c.421C>T c.(421-423)Cgc>Tgc p.R141C NSUN4_ENST00000537428.1_Missense_Mutation_p.R92C|NSUN4_ENST00000498008.1_3'UTR|NSUN4_ENST00000536062.1_Missense_Mutation_p.R92C NM_199044.3 NP_950245.2 Q96CB9 NSUN4_HUMAN NOP2/Sun domain family, member 4 141 methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 Acute lymphoblastic leukemia(166;0.155) GGATATCAGTCGCTTCCCTCC 0.567000 16 55 0 0 0.043863 0 0 CLSTN3 9746 broad.mit.edu 37 12 7302138 7302138 + Silent SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr12:7302138G>T ENST00000537408.1 + 13 2668 c.2130G>T c.(2128-2130)tcG>tcT p.S710S CLSTN3_ENST00000266546.6_Silent_p.S698S Q9BQT9 CSTN3_HUMAN calsyntenin 3 698 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 CACGCATGTCGGATGAGATTG 0.577000 36 54 9.9191e-30 1.17957e-29 0.033182 1 0 PXDNL 137902 broad.mit.edu 37 8 52321226 52321226 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr8:52321226G>A ENST00000356297.4 - 17 3058 c.2958C>T c.(2956-2958)tcC>tcT p.S986S PXDNL_ENST00000543296.1_Silent_p.S986S NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 986 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGTTCAGGGCGGACAGCTCCG 0.642000 4 5 0 0 0.009096 0 0 PLEKHO1 51177 broad.mit.edu 37 1 150128284 150128284 + Nonsense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr1:150128284G>T ENST00000369124.4 + 3 480 c.202G>T c.(202-204)Gag>Tag p.E68* PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000025469.6_Nonsense_Mutation_p.E68*|PLEKHO1_ENST00000369126.1_5'UTR NM_016274.4 NP_057358.2 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O member 1 68 PH. cytoplasm|nucleus|plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 22 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) AAATATTCAAGAGGTATTTGA 0.438000 9 236 0.000673444 0.000693135 0.008291 1 0 TMEM194A 23306 broad.mit.edu 37 12 57454716 57454716 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr12:57454716C>T ENST00000300128.4 - 8 1016 c.993G>A c.(991-993)aaG>aaA p.K331K TMEM194A_ENST00000379391.3_Silent_p.K258K NM_001130963.1 NP_001124435.1 O14524 T194A_HUMAN transmembrane protein 194A 331 integral to membrane endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 TTTCTGCTCCCTTACACACCT 0.438000 29 76 0 0 0.030593 0 0 SEPT3 55964 broad.mit.edu 37 22 42383247 42383247 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr22:42383247C>T ENST00000396425.3 + 4 500 c.369C>T c.(367-369)gtC>gtT p.V123V SEPT3_ENST00000396426.3_Silent_p.V123V|SEPT3_ENST00000291236.11_Silent_p.V59V|SEPT3_ENST00000406029.1_Silent_p.V59V|SEPT3_ENST00000328414.8_Intron NM_019106.5 NP_061979.3 Q9UH03 SEPT3_HUMAN septin 3 123 cell cycle|cytokinesis cell junction|septin complex GTP binding breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 AGCTGACCGTCATCGACACCC 0.493000 22 54 0 0 0.018920 0 0 C10orf12 26148 broad.mit.edu 37 10 98742657 98742657 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr10:98742657G>A ENST00000286067.2 + 1 1617 c.1510G>A c.(1510-1512)Gat>Aat p.D504N NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 504 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) TGAGGCCTCTGATAGGTGCCT 0.398000 32 62 0 0 0.045705 0 0 CDH20 28316 broad.mit.edu 37 18 59166671 59166671 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr18:59166671G>A ENST00000262717.4 + 3 897 c.499G>A c.(499-501)Gac>Aac p.D167N CDH20_ENST00000536675.2_Missense_Mutation_p.D167N|CDH20_ENST00000538374.1_Missense_Mutation_p.D167N Q9HBT6 CAD20_HUMAN cadherin 20, type 2 167 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D167N(1) breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) CAAGTTCCTGGACGGACCTTA 0.502000 14 42 0 0 0.028581 0 0 FCGBP 8857 broad.mit.edu 37 19 40408592 40408592 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr19:40408592C>T ENST00000221347.6 - 8 4254 c.4247G>A c.(4246-4248)gGc>gAc p.G1416D NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1416 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CCAGGAGTTGCCGAACTCATT 0.637000 70 35 0 0 0.014410 0 0 NOTCH2 4853 broad.mit.edu 37 1 120467945 120467945 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr1:120467945C>T ENST00000256646.2 - 25 4713 c.4494G>A c.(4492-4494)ggG>ggA p.G1498G NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1498 Negative regulatory region (NRR). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TCTTGCTGTTCCCCTGGCATT 0.498000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 27 466 0 0 0.045705 0 0 C1S 716 broad.mit.edu 37 12 7169971 7169971 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr12:7169971G>A ENST00000406697.1 + 6 826 c.198G>A c.(196-198)gcG>gcA p.A66A C1S_ENST00000402681.3_Intron|C1S_ENST00000360817.5_Silent_p.A66A|C1S_ENST00000328916.3_Silent_p.A66A P09871 C1S_HUMAN complement component 1, s subcomponent 66 CUB 1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) AGAACTGTGCGTATGACTCAG 0.468000 37 151 0 0 0.023175 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554402 140554402 + Silent SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr5:140554402G>T ENST00000231137.3 + 1 2160 c.1986G>T c.(1984-1986)ctG>ctT p.L662L NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 662 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) ACGTGCTCCTGGTGGACGGCT 0.701000 15 54 1.33834e-09 1.44508e-09 0.043863 1 0 AKAP6 9472 broad.mit.edu 37 14 33293503 33293503 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr14:33293503G>A ENST00000280979.4 + 13 6654 c.6484G>A c.(6484-6486)Ggt>Agt p.G2162S AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 2162 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CTGTGTTGAGGGTGACTCTGA 0.478000 30 17 0 0 0.030593 0 0 BARD1 580 broad.mit.edu 37 2 215645436 215645436 + Missense_Mutation SNP T T C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr2:215645436T>C ENST00000260947.4 - 4 1296 c.1162A>G c.(1162-1164)Att>Gtt p.I388V BARD1_ENST00000449967.2_Missense_Mutation_p.I244V NM_000465.2 NP_000456.2 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 388 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GAAAGACTAATGAATTCATCG 0.423000 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 6 114 0 0 0.021553 0 0 OR10A7 121364 broad.mit.edu 37 12 55615608 55615608 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr12:55615608C>T ENST00000326258.1 + 1 800 c.800C>T c.(799-801)tCc>tTc p.S267F NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 TCAAACCAGTCCCCTGAGAGC 0.507000 15 76 0 0 0.028581 0 0 ZNF800 168850 broad.mit.edu 37 7 127014179 127014179 + Nonsense_Mutation SNP G G C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr7:127014179G>C ENST00000393313.1 - 5 1802 c.1211C>G c.(1210-1212)tCa>tGa p.S404* ZNF800_ENST00000265827.3_Nonsense_Mutation_p.S404*|ZNF800_ENST00000393312.1_Nonsense_Mutation_p.S404* Q2TB10 ZN800_HUMAN zinc finger protein 800 404 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 TTTTATTTCTGAACTGTTGGC 0.348000 30 64 0 0 0.034045 0 0 LZTR1 8216 broad.mit.edu 37 22 21349206 21349206 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr22:21349206G>A ENST00000215739.8 + 16 2192 c.1833G>A c.(1831-1833)gtG>gtA p.V611V LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Silent_p.V592V NM_006767.3 NP_006758.2 Q8N653 LZTR1_HUMAN leucine-zipper-like transcription regulator 1 611 anatomical structure morphogenesis sequence-specific DNA binding transcription factor activity breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3) 42 all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195) TCAACCAGGTGATCATGATGA 0.617000 51 108 0 0 0.014410 0 0 FREM2 341640 broad.mit.edu 37 13 39265184 39265184 + Missense_Mutation SNP C C A rs151214132 TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr13:39265184C>A ENST00000280481.7 + 1 3919 c.3703C>A c.(3703-3705)Cat>Aat p.H1235N NM_207361.4 NP_997244.3 Q5SZK8 FREM2_HUMAN FRAS1 related extracellular matrix protein 2 1235 cell communication|homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2) 148 Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114) all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312) ATTCCCCACTCATGGTCACAT 0.428000 58 258 2.12129e-23 2.4908e-23 0.014410 1 0 ALDH1B1 219 broad.mit.edu 37 9 38396909 38396909 + Silent SNP A A G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr9:38396909A>G ENST00000377698.3 + 2 1317 c.1164A>G c.(1162-1164)ggA>ggG p.G388G NM_000692.4 NP_000683.3 P30837 AL1B1_HUMAN aldehyde dehydrogenase 1 family, member B1 388 carbohydrate metabolic process mitochondrial matrix|nucleus aldehyde dehydrogenase (NAD) activity NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2) 32 GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115) NADH(DB00157) TCTGTGGCGGAGAGCGTTTCG 0.562000 8 52 0 0 0.006214 0 0 C14orf37 145407 broad.mit.edu 37 14 58471868 58471868 + Silent SNP T T G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr14:58471868T>G ENST00000267485.7 - 7 2348 c.2154A>C c.(2152-2154)gtA>gtC p.V718V NM_001001872.2 NP_001001872.2 Q86TY3 CN037_HUMAN chromosome 14 open reading frame 37 718 integral to membrane binding breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1) 33 TCCCAACCCCTACAGGCACCA 0.488000 47 50 0 0 0.014410 0 0 PGBD5 79605 broad.mit.edu 37 1 230468601 230468601 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr1:230468601G>A ENST00000321327.2 - 7 1351 c.1352C>T c.(1351-1353)cCg>cTg p.P451L PGBD5_ENST00000391860.1_Missense_Mutation_p.P306L|PGBD5_ENST00000530424.1_5'UTR|PGBD5_ENST00000525115.1_Missense_Mutation_p.P352L Q8N414 PGBD5_HUMAN piggyBac transposable element derived 5 352 integral to membrane p.P451L(1) biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1) 33 Breast(184;0.0397) Prostate(94;0.167) GBM - Glioblastoma multiforme(131;0.201) CTGCTGCACCGGGGAGTAGGC 0.627000 33 63 0 0 0.015359 0 0 ZC2HC1A 51101 broad.mit.edu 37 8 79588079 79588079 + Missense_Mutation SNP C C A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr8:79588079C>A ENST00000263849.4 + 2 176 c.74C>A c.(73-75)aCa>aAa p.T25K ZC2HC1A_ENST00000521176.1_Intron NM_016010.2 NP_057094.2 Q96GY0 F164A_HUMAN zinc finger, C2HC-type containing 1A 25 TGTGGAAGAACATTCTTTCCA 0.323000 35 147 5.44703e-19 6.27442e-19 0.036044 1 0 PHC3 80012 broad.mit.edu 37 3 169840414 169840414 + Missense_Mutation SNP C C G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr3:169840414C>G ENST00000494943.1 - 9 1939 c.1871G>C c.(1870-1872)aGa>aCa p.R624T PHC3_ENST00000467570.1_Missense_Mutation_p.R583T|PHC3_ENST00000495893.1_Missense_Mutation_p.R636T Q8NDX5 PHC3_HUMAN polyhomeotic homolog 3 (Drosophila) 624 Pro-rich. multicellular organismal development PcG protein complex DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2) 26 all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169) Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655) ATCTTCTCCTCTCCCCACTGT 0.398000 10 202 0 0 0.010729 0 0 DST 667 broad.mit.edu 37 6 56471961 56471961 + Nonsense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr6:56471961G>A ENST00000370754.5 - 39 7365 c.7366C>T c.(7366-7368)Cag>Tag p.Q2456* DST_ENST00000312431.6_Nonsense_Mutation_p.Q2278*|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Nonsense_Mutation_p.Q1952*|DST_ENST00000361203.3_Nonsense_Mutation_p.Q2278*|DST_ENST00000370769.4_Nonsense_Mutation_p.Q2278*|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron Q03001 DYST_HUMAN dystonin 2278 cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity p.Q2278K(1) NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3) 105 Lung NSC(77;0.103) LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956) CCCAGAAACTGGTCTTGAAAT 0.383000 12 41 0 0 0.010729 0 0 SLC39A12 221074 broad.mit.edu 37 10 18280093 18280093 + Missense_Mutation SNP A A T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr10:18280093A>T ENST00000377369.2 + 8 1556 c.1283A>T c.(1282-1284)cAt>cTt p.H428L SLC39A12_ENST00000539911.1_Missense_Mutation_p.H294L|SLC39A12_ENST00000377371.3_Missense_Mutation_p.H428L|SLC39A12_ENST00000377374.4_Missense_Mutation_p.H428L NM_001145195.1 NP_001138667.1 Q504Y0 S39AC_HUMAN solute carrier family 39 (zinc transporter), member 12 428 zinc ion transport integral to membrane metal ion transmembrane transporter activity NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 60 CTTGGTTTACATAAGCAGGAA 0.373000 11 42 0 0 0.010729 0 0 RTKN2 219790 broad.mit.edu 37 10 64022543 64022543 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr10:64022543C>T ENST00000373789.3 - 2 194 c.98G>A c.(97-99)cGa>cAa p.R33Q RTKN2_ENST00000395260.3_Missense_Mutation_p.R33Q|RTKN2_ENST00000395265.1_Missense_Mutation_p.R33Q NM_145307.2 NP_660350.2 Q8IZC4 RTKN2_HUMAN rhotekin 2 33 signal transduction intracellular endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 21 Prostate(12;0.0297)|all_hematologic(501;0.215) TTCTCGCATTCGAATTTCTAA 0.333000 7 26 0 0 0.029380 0 0 B3GNT6 192134 broad.mit.edu 37 11 76750656 76750656 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr11:76750656G>A ENST00000533140.1 + 2 199 c.61G>A c.(61-63)Gtg>Atg p.V21M B3GNT6_ENST00000421061.1_Missense_Mutation_p.V21M|B3GNT6_ENST00000354301.5_Missense_Mutation_p.V21M Q6ZMB0 B3GN6_HUMAN UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase) 21 O-glycan processing, core 3 Golgi membrane|integral to membrane beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity central_nervous_system(1)|kidney(2)|lung(4)|prostate(1) 8 CCTGGTGGGCGTGAGTTTCTT 0.657000 OREG0021252 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 78 37 0 0 0.014410 0 0 KCNB2 9312 broad.mit.edu 37 8 73849229 73849229 + Missense_Mutation SNP A A G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr8:73849229A>G ENST00000523207.1 + 3 2227 c.1639A>G c.(1639-1641)Atc>Gtc p.I547V NM_004770.2 NP_004761.2 Q92953 KCNB2_HUMAN potassium voltage-gated channel, Shab-related subfamily, member 2 547 regulation of smooth muscle contraction voltage-gated potassium channel complex delayed rectifier potassium channel activity|protein binding NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1) 85 Breast(64;0.137) Epithelial(68;0.105) ATACAATGAAATCACCAAGAC 0.488000 23 88 0 0 0.021523 0 0 UGGT2 55757 broad.mit.edu 37 13 96675306 96675306 + Missense_Mutation SNP T T A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr13:96675306T>A ENST00000376747.3 - 4 543 c.473A>T c.(472-474)aAa>aTa p.K158I UGGT2_ENST00000376714.3_Missense_Mutation_p.K158I|UGGT2_ENST00000376712.4_Missense_Mutation_p.K158I|UGGT2_ENST00000397618.3_Missense_Mutation_p.K158I NM_020121.3 NP_064506.3 Q9NYU1 UGGG2_HUMAN UDP-glucose glycoprotein glucosyltransferase 2 158 post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine endoplasmic reticulum lumen|ER-Golgi intermediate compartment UDP-glucose:glycoprotein glucosyltransferase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2) 60 TGAAGCAGCTTTCTTCAGCAG 0.323000 22 56 0 0 0.014323 0 0 PGBD2 267002 broad.mit.edu 37 1 249211729 249211729 + Missense_Mutation SNP C C G rs75935520 TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr1:249211729C>G ENST00000355360.4 + 3 463 c.193C>G c.(193-195)Ctg>Gtg p.L65V PGBD2_ENST00000329291.5_Missense_Mutation_p.L316V|PGBD2_ENST00000539153.1_Missense_Mutation_p.L313V NM_001017434.1 NP_001017434.1 Q6P3X8 PGBD2_HUMAN piggyBac transposable element derived 2 316 NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3) 14 all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199) all_cancers(173;0.012) OV - Ovarian serous cystadenocarcinoma(106;0.00989) ACAGGGCACACTGTTTACCAA 0.512000 82 33 0 0 0.014410 0 0 PAPOLB 56903 broad.mit.edu 37 7 4901062 4901062 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr7:4901062C>T ENST00000404991.1 - 1 563 c.377G>A c.(376-378)cGa>cAa p.R126Q RADIL_ENST00000536091.1_Intron|RADIL_ENST00000399583.3_Intron NM_020144.4 NP_064529.4 Q9NRJ5 PAPOB_HUMAN poly(A) polymerase beta (testis specific) 126 mRNA processing|RNA polyadenylation|transcription, DNA-dependent nucleus ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1) 14 Ovarian(82;0.0175) UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14) AAAGTCGCTTCGATCCACATG 0.438000 13 36 0 0 0.020292 0 0 CFH 3075 broad.mit.edu 37 1 196642255 196642255 + Missense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr1:196642255G>T ENST00000367429.4 + 2 446 c.206G>T c.(205-207)gGa>gTa p.G69V CFH_ENST00000359637.2_Missense_Mutation_p.G69V|CFH_ENST00000439155.2_Missense_Mutation_p.G69V|CFH_ENST00000496761.1_3'UTR NM_000186.3 NP_000177.2 P08603 CFAH_HUMAN complement factor H 69 Sushi 1. complement activation, alternative pathway extracellular space NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 101 TGCAGGAAGGGAGAATGGGTT 0.363000 69 44 2.72615e-36 3.28583e-36 0.014410 1 0 BAZ2B 29994 broad.mit.edu 37 2 160204131 160204131 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr2:160204131C>T ENST00000392783.2 - 31 5815 c.5320G>A c.(5320-5322)Gaa>Aaa p.E1774K BAZ2B_ENST00000392782.1_Missense_Mutation_p.E1738K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E1740K|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E1674K NM_013450.2 NP_038478.2 Q9UIF8 BAZ2B_HUMAN bromodomain adjacent to zinc finger domain, 2B 1774 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 TGGTTTTCTTCATTTTCATTC 0.343000 14 33 0 0 0.020292 0 0 DNAH5 1767 broad.mit.edu 37 5 13830755 13830755 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr5:13830755G>A ENST00000265104.4 - 36 6116 c.6012C>T c.(6010-6012)ttC>ttT p.F2004F NM_001369.2 NP_001360.1 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 2004 AAA 1 (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8) 378 Lung NSC(4;0.00476) CTGAACAATTGAAAACCACGA 0.473000 Kartagener syndrome 19 104 0 0 0.008871 0 0 LAMA1 284217 broad.mit.edu 37 18 6943269 6943269 + Missense_Mutation SNP C C A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr18:6943269C>A ENST00000389658.3 - 62 9070 c.8977G>T c.(8977-8979)Gtt>Ttt p.V2993F NM_005559.3 NP_005550.2 P25391 LAMA1_HUMAN laminin, alpha 1 2993 Laminin G-like 5. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3) 205 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) TTCCCGTCAACAATCAGAGTG 0.488000 99 30 1.54295e-31 1.84748e-31 0.014410 1 0 LMBRD2 92255 broad.mit.edu 37 5 36111350 36111350 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr5:36111350G>A ENST00000296603.4 - 14 2113 c.1651C>T c.(1651-1653)Cgt>Tgt p.R551C NM_001007527.1 NP_001007528.1 Q68DH5 LMBD2_HUMAN LMBR1 domain containing 2 551 integral to membrane breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_lung(31;0.000146) Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTCAAACAACGGGTTCCCAAA 0.313000 16 36 0 0 0.028581 0 0 TBR1 10716 broad.mit.edu 37 2 162274717 162274717 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr2:162274717C>T ENST00000389554.3 + 3 1170 c.853C>T c.(853-855)Cgg>Tgg p.R285W TBR1_ENST00000410035.1_5'UTR NM_006593.2 NP_006584.1 Q16650 TBR1_HUMAN T-box, brain, 1 285 nucleus DNA binding|sequence-specific DNA binding transcription factor activity central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3) 30 TCTAGGAAATCGGGTCTATAT 0.478000 19 28 0 0 0.038395 0 0 PRG4 10216 broad.mit.edu 37 1 186275519 186275519 + Missense_Mutation SNP G G C rs28698702 TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr1:186275519G>C ENST00000445192.2 + 7 713 c.668G>C c.(667-669)gGa>gCa p.G223A PRG4_ENST00000367483.4_Missense_Mutation_p.G182A|PRG4_ENST00000367485.4_Missense_Mutation_p.G130A|PRG4_ENST00000367484.3_Missense_Mutation_p.G182A|PRG4_ENST00000367486.3_Missense_Mutation_p.G180A NM_005807.3 NP_005798.2 Q92954 PRG4_HUMAN proteoglycan 4 223 cell proliferation|immune response extracellular region polysaccharide binding|protein binding|scavenger receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1) 102 GATGAAGCTGGAAGTGGATTG 0.393000 57 206 0 0 0.014410 0 0 SEMA6D 80031 broad.mit.edu 37 15 48063143 48063143 + Missense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr15:48063143G>T ENST00000316364.5 + 19 2822 c.2383G>T c.(2383-2385)Gcc>Tcc p.A795S SEMA6D_ENST00000537942.1_Missense_Mutation_p.A733S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.A733S|SEMA6D_ENST00000536845.2_Missense_Mutation_p.A795S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389433.2_Missense_Mutation_p.A776S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.A720S|SEMA6D_ENST00000354744.4_Missense_Mutation_p.A739S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.A733S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.A752S NM_153618.1 NP_705871.1 Q8NFY4 SEM6D_HUMAN sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D 795 axon guidance cytoplasm|integral to membrane|plasma membrane receptor activity biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4) 77 all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18) all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06) CTCAGAAAAGGCCCATGGCCA 0.542000 24 53 5.45024e-15 6.12311e-15 0.018920 1 0 C12orf68 387856 broad.mit.edu 37 12 48578417 48578417 + Missense_Mutation SNP A A G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr12:48578417A>G ENST00000316554.3 + 1 1052 c.512A>G c.(511-513)gAc>gGc p.D171G NM_001013635.3 NP_001013657.3 Q52MB2 CL068_HUMAN chromosome 12 open reading frame 68 171 cytoplasm central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1) 4 CTTGGGGGGGACGGGCCACTT 0.657000 2 5 0 0 0.004672 0 0 IRF4 3662 broad.mit.edu 37 6 407576 407576 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr6:407576G>A ENST00000380956.4 + 9 1460 c.1334G>A c.(1333-1335)cGc>cAc p.R445H NM_001195286.1|NM_002460.3 NP_001182215.1|NP_002451.2 Q15306 IRF4_HUMAN interferon regulatory factor 4 445 interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway cytoplasm DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2) 5 Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895) OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702) AGATCTATCCGCCATTCCTCT 0.373000 T IGH@ MM 21 49 0 0 0.012319 0 0 CD247 919 broad.mit.edu 37 1 167400951 167400951 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr1:167400951G>A ENST00000392122.3 - 8 603 c.459C>T c.(457-459)gaC>gaT p.D153D CD247_ENST00000362089.5_Silent_p.D154D|CD247_ENST00000483825.1_5'UTR NM_000734.3|NM_198053.2 NP_000725.1|NP_932170.1 P20963 CD3Z_HUMAN CD247 molecule 154 ITAM 3. interspecies interaction between organisms|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction cytoplasm|integral to membrane protein homodimerization activity|transmembrane receptor activity central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1) 6 LUSC - Lung squamous cell carcinoma(543;0.236) TGTGAAGGGCGTCGTAGGTGT 0.562000 8 211 0 0 0.004482 0 0 GIMAP8 155038 broad.mit.edu 37 7 150174742 150174742 + Silent SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr7:150174742G>T ENST00000307271.3 + 5 2446 c.1872G>T c.(1870-1872)ctG>ctT p.L624L NM_175571.2 NP_783161.1 Q8ND71 GIMA8_HUMAN GTPase, IMAP family member 8 624 endoplasmic reticulum|Golgi apparatus|mitochondrion GTP binding breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 62 OV - Ovarian serous cystadenocarcinoma(82;0.0218) UCEC - Uterine corpus endometrioid carcinoma (81;0.17) TCAATGATCTGAGAAAAGAAA 0.443000 25 103 2.44723e-14 2.71583e-14 0.024334 1 0 TTC21A 199223 broad.mit.edu 37 3 39170771 39170771 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr3:39170771G>A ENST00000301819.6 + 15 2306 c.2129G>A c.(2128-2130)aGa>aAa p.R710K TTC21A_ENST00000440121.1_Missense_Mutation_p.R661K|TTC21A_ENST00000431162.2_Missense_Mutation_p.R709K NM_145755.2 NP_665698.2 Q8NDW8 TT21A_HUMAN tetratricopeptide repeat domain 21A 709 binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3) 50 KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738) CAGACCCTCAGAGACAGGCGC 0.522000 67 52 0 0 0.014410 0 0 DNAH11 8701 broad.mit.edu 37 7 21730399 21730399 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr7:21730399G>A ENST00000328843.6 + 36 5993 c.5962G>A c.(5962-5964)Gaa>Aaa p.E1988K DNAH11_ENST00000409508.3_Missense_Mutation_p.E1981K Q96DT5 DYH11_HUMAN dynein, axonemal, heavy chain 11 1988 AAA 1 (By similarity). microtubule-based movement axonemal dynein complex|cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 230 ATTTCTTGGGGAAGCTATCAC 0.363000 Kartagener syndrome 48 194 0 0 0.014410 0 0 GRAMD4 23151 broad.mit.edu 37 22 47054120 47054120 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr22:47054120C>T ENST00000406902.1 + 4 533 c.320C>T c.(319-321)gCg>gTg p.A107V GRAMD4_ENST00000361034.3_Missense_Mutation_p.A107V Q6IC98 GRAM4_HUMAN GRAM domain containing 4 107 apoptosis integral to membrane|mitochondrial membrane breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 12 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) GAAACCAACGCGGAGATGCTG 0.657000 10 42 0 0 0.008291 0 0 LRRIQ4 344657 broad.mit.edu 37 3 169540507 169540507 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr3:169540507G>A ENST00000340806.6 + 1 798 c.798G>A c.(796-798)ggG>ggA p.G266G NM_001080460.1 NP_001073929.1 A6NIV6 LRIQ4_HUMAN leucine-rich repeats and IQ motif containing 4 266 breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 30 GGCTGAGCGGGAACCGCCTGG 0.612000 7 114 0 0 0.029380 0 0 RPL13A 23521 broad.mit.edu 37 19 49993179 49993179 + Splice_Site SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr19:49993179G>A ENST00000391857.4 + 2 164 c.88_splice c.e2+1 p.G30_splice RPL13A_ENST00000477613.2_3'UTR NM_001270491.1|NM_012423.3 NP_001257420.1|NP_036555.1 P40429 RL13A_HUMAN ribosomal protein L13a 30 endocrine pancreas development|translational elongation|translational termination|viral transcription cytosol|large ribosomal subunit structural constituent of ribosome cervix(1)|endometrium(1) 2 all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392) OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246) GGTACTGCTGGGTAAGTCGCT 0.592000 38 100 0 0 0.027894 0 0 TMTC2 160335 broad.mit.edu 37 12 83324299 83324299 + Missense_Mutation SNP A A G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr12:83324299A>G ENST00000549919.1 + 5 3360 c.1555A>G c.(1555-1557)Aac>Gac p.N519D TMTC2_ENST00000321196.3_Missense_Mutation_p.N525D|TMTC2_ENST00000548305.1_Missense_Mutation_p.N525D Q8N394 TMTC2_HUMAN transmembrane and tetratricopeptide repeat containing 2 525 endoplasmic reticulum|integral to membrane binding breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1) 39 CTACCGCAGCAACATGGCTGA 0.433000 9 43 0 0 0.006214 0 0 FAM173B 134145 broad.mit.edu 37 5 10239377 10239377 + Nonsense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr5:10239377C>T ENST00000511437.1 - 2 120 c.108G>A c.(106-108)tgG>tgA p.W36* FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Nonsense_Mutation_p.W36*|FAM173B_ENST00000510052.1_5'UTR NM_199133.3 NP_954584.2 Q6P4H8 F173B_HUMAN family with sequence similarity 173, member B 36 integral to membrane breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 16 GTAAGAACCCCCAGTTGCTTT 0.478000 60 109 0 0 0.014410 0 0 LIPI 149998 broad.mit.edu 37 21 15538694 15538694 + Nonsense_Mutation SNP G G C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr21:15538694G>C ENST00000344577.2 - 5 810 c.785C>G c.(784-786)tCa>tGa p.S262* LIPI_ENST00000536861.1_Nonsense_Mutation_p.S241* NM_198996.2 NP_945347.1 Q6XZB0 LIPI_HUMAN lipase, member I 241 lipid catabolic process extracellular region|extracellular space|membrane|plasma membrane heparin binding|phospholipase activity endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1) 54 Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166) TGAGAAAATTGATTTAGGACA 0.358000 21 57 0 0 0.018920 0 0 RCE1 9986 broad.mit.edu 37 11 66612403 66612403 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr11:66612403C>T ENST00000309657.3 + 5 559 c.515C>T c.(514-516)cCg>cTg p.P172L RCE1_ENST00000524506.1_Missense_Mutation_p.P172L|RCE1_ENST00000525356.1_Missense_Mutation_p.P49L NM_001032279.1|NM_005133.2 NP_001027450.1|NP_005124.1 Q9Y256 FACE2_HUMAN Ras converting CAAX endopeptidase 1 172 proteolysis endoplasmic reticulum membrane|integral to plasma membrane metalloendopeptidase activity breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1) 10 GTGATCGCCCCGCTGACAGAG 0.632000 21 10 0 0 0.008871 0 0 ELN 2006 broad.mit.edu 37 7 73477973 73477973 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr7:73477973C>T ENST00000252034.7 + 29 2340 c.1941C>T c.(1939-1941)ctC>ctT p.L647L ELN_ENST00000320492.7_Silent_p.L566L|ELN_ENST00000358929.4_Silent_p.L715L|ELN_ENST00000380553.4_Silent_p.L511L|ELN_ENST00000380584.4_Silent_p.L599L|ELN_ENST00000380562.4_Silent_p.L653L|ELN_ENST00000380575.4_Silent_p.L618L|ELN_ENST00000357036.5_Silent_p.L652L|ELN_ENST00000445912.1_Silent_p.L647L|ELN_ENST00000380576.5_Silent_p.L628L|ELN_ENST00000320399.6_Silent_p.L680L|ELN_ENST00000458204.1_Silent_p.L637L|ELN_ENST00000414324.1_Silent_p.L623L|ELN_ENST00000429192.1_Silent_p.L633L NM_000501.2 NP_000492.2 P15502 ELN_HUMAN elastin 709 Ala-rich. blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange proteinaceous extracellular matrix extracellular matrix constituent conferring elasticity|protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1) 32 Lung NSC(55;0.159) Rofecoxib(DB00533) CCGCTGGGCTCGGAGGACTCG 0.602000 T PAX5 B-ALL """Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome""" 58 86 0 0 0.014410 0 0 PCDHA2 56146 broad.mit.edu 37 5 140176624 140176624 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr5:140176624C>T ENST00000526136.1 + 1 2075 c.2075C>T c.(2074-2076)aCg>aTg p.T692M PCDHA2_ENST00000378132.1_Missense_Mutation_p.T692M|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.T692M NM_018905.2 NP_061728.1 p.T692M(2) NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1) 71 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) TCAGAGGCTACGCTGGTGGAT 0.647000 41 97 0 0 0.036044 0 0 OR13A1 79290 broad.mit.edu 37 10 45799805 45799805 + Silent SNP A A G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr10:45799805A>G ENST00000553795.1 - 4 374 c.66T>C c.(64-66)agT>agC p.S22S OR13A1_ENST00000536058.1_Silent_p.S22S|OR13A1_ENST00000374401.2_Silent_p.S22S NM_001004297.2 NP_001004297.2 Q8NGR1 O13A1_HUMAN olfactory receptor, family 13, subfamily A, member 1 22 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1) 19 ACGTCTGGTTACTCATCATCC 0.502000 23 60 0 0 0.021523 0 0 CECR2 27443 broad.mit.edu 37 22 18022469 18022469 + Missense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr22:18022469G>T ENST00000262608.8 + 15 2574 c.2574G>T c.(2572-2574)atG>atT p.M858I CECR2_ENST00000400585.2_Missense_Mutation_p.M716I|CECR2_ENST00000400573.4_Missense_Mutation_p.M857I NM_031413.3 NP_113601.2 Q9BXF3 CECR2_HUMAN cat eye syndrome chromosome region, candidate 2 899 chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport protein binding NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1) 59 all_epithelial(15;0.139) Lung(27;0.146) GGGACTCCATGATGGACAGCC 0.637000 26 61 2.44723e-14 2.71583e-14 0.024334 1 0 PPP1R2P1 100507444 broad.mit.edu 37 6 32847145 32847145 + RNA SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr6:32847145G>A ENST00000420261.1 - 0 480 TGTCTAGCTAGTTTGATATTG 0.383000 4 8 0 0 0.009096 0 0 NFE2L2 4780 broad.mit.edu 37 2 178098962 178098962 + Missense_Mutation SNP A A G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr2:178098962A>G ENST00000397062.3 - 2 637 c.83T>C c.(82-84)aTa>aCa p.I28T NFE2L2_ENST00000464747.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000446151.2_Missense_Mutation_p.I12T|NFE2L2_ENST00000423513.1_Missense_Mutation_p.I12T|NFE2L2_ENST00000397063.4_Missense_Mutation_p.I12T NM_006164.4 NP_006155.2 Q16236 NF2L2_HUMAN nuclear factor, erythroid 2-like 2 28 transcription from RNA polymerase II promoter centrosome|cytosol|nucleus|plasma membrane protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity p.I28T(1) central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 158 Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935) TCCAAGATCTATATCTTGCCT 0.358000 Mis """NSCLC, HNSCC""" HNSCC(56;0.16) 19 14 0 0 0.010504 0 0 CDH23 64072 broad.mit.edu 37 10 73545397 73545397 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr10:73545397G>A ENST00000224721.6 + 43 5742 c.5737G>A c.(5737-5739)Gtc>Atc p.V1913I NM_022124.5 NP_071407.4 Q9H251 CAD23_HUMAN cadherin-related 23 1908 Cadherin 18. calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound cytosol|integral to membrane|plasma membrane|stereocilium calcium ion binding|protein binding NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3) 133 GACAGGGATCGTCACTGTGAA 0.582000 3 4 0 0 0.004672 0 0 SYT5 6861 broad.mit.edu 37 19 55687172 55687172 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr19:55687172G>A ENST00000354308.3 - 5 814 c.445C>T c.(445-447)Cgg>Tgg p.R149W CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000537500.1_Missense_Mutation_p.R149W|SYT5_ENST00000590851.1_Missense_Mutation_p.R146W NM_003180.2 NP_003171.2 O00445 SYT5_HUMAN synaptotagmin V 149 C2 1. energy reserve metabolic process|regulation of insulin secretion|synaptic transmission cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane metal ion binding|transporter activity kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 18 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.0452) AGGTAGACCCGCACATAGGGG 0.622000 27 82 0 0 0.030593 0 0 EPHX4 253152 broad.mit.edu 37 1 92495663 92495663 + Silent SNP C C G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr1:92495663C>G ENST00000370383.4 + 1 125 c.27C>G c.(25-27)ccC>ccG p.P9P NM_173567.4 NP_775838.3 Q8IUS5 EPHX4_HUMAN epoxide hydrolase 4 9 integral to membrane hydrolase activity central_nervous_system(1)|large_intestine(3)|lung(8) 12 ATTGCCTGCCCCGCCTGATGC 0.701000 9 7 0 0 0.010729 0 0 PLEKHH2 130271 broad.mit.edu 37 2 43927243 43927243 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr2:43927243C>T ENST00000282406.4 + 8 1256 c.1146C>T c.(1144-1146)tcC>tcT p.S382S NM_172069.3 NP_742066.2 Q8IVE3 PKHH2_HUMAN pleckstrin homology domain containing, family H (with MyTH4 domain) member 2 382 cytoplasm|cytoskeleton|integral to membrane binding NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17) AAGATAGTTCCTCGGATGAAC 0.403000 51 63 0 0 0.014410 0 0 FDFT1 2222 broad.mit.edu 37 8 11660408 11660408 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr8:11660408G>A ENST00000220584.4 + 1 289 c.67G>A c.(67-69)Ggc>Agc p.G23S FDFT1_ENST00000525900.1_Missense_Mutation_p.G23S|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Missense_Mutation_p.G23S|FDFT1_ENST00000538689.1_Intron NM_004462.3 NP_004453.3 P37268 FDFT_HUMAN farnesyl-diphosphate farnesyltransferase 1 23 cholesterol biosynthetic process|isoprenoid biosynthetic process endoplasmic reticulum membrane|integral to membrane farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2) 12 all_epithelial(15;0.234) STAD - Stomach adenocarcinoma(15;0.00225) COAD - Colon adenocarcinoma(149;0.18) CCGGATCGGGGGCAAGCGGAA 0.692000 4 15 0 0 0.009096 0 0 CACNA2D1 781 broad.mit.edu 37 7 81620503 81620503 + Nonsense_Mutation SNP G G C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr7:81620503G>C ENST00000356860.3 - 21 2132 c.1794C>G c.(1792-1794)taC>taG p.Y598* CACNA2D1_ENST00000356253.5_Nonsense_Mutation_p.Y617* NM_000722.2 NP_000713.2 P54289 CA2D1_HUMAN calcium channel, voltage-dependent, alpha 2/delta subunit 1 617 voltage-gated calcium channel complex metal ion binding breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 81 Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115) TTAATTACCTGTAATCTGTGC 0.308000 17 32 0 0 0.033300 0 0 LETM2 137994 broad.mit.edu 37 8 38264944 38264944 + Nonsense_Mutation SNP C C A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr8:38264944C>A ENST00000379957.4 + 10 1503 c.1376C>A c.(1375-1377)tCa>tAa p.S459* LETM2_ENST00000527710.1_Nonsense_Mutation_p.S245*|LETM2_ENST00000297720.5_Nonsense_Mutation_p.S364*|LETM2_ENST00000524874.1_Nonsense_Mutation_p.S411*|LETM2_ENST00000523983.2_Nonsense_Mutation_p.S412* NM_001199659.1 NP_001186588.1 Q2VYF4 LETM2_HUMAN leucine zipper-EF-hand containing transmembrane protein 2 459 integral to membrane|mitochondrial inner membrane NS(1)|large_intestine(1)|lung(3)|prostate(2) 7 all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202) all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175) Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114) ACACCTATTTCATTACCTAAA 0.378000 30 89 3.1745e-13 3.48047e-13 0.037714 1 0 TTN 7273 broad.mit.edu 37 2 179517412 179517412 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr2:179517412G>A ENST00000589042.1 - 201 39235 c.39011C>T c.(39010-39012)cCt>cTt p.P13004L TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Intron NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 11346 Ig-like 86. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTTTTTAGGAGGAGCCGAGGG 0.388000 92 140 0 0 0.014410 0 0 ATF7 11016 broad.mit.edu 37 12 53918430 53918430 + Missense_Mutation SNP C C A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr12:53918430C>A ENST00000420353.2 - 10 1192 c.1043G>T c.(1042-1044)cGc>cTc p.R348L ATF7_ENST00000415113.1_Missense_Mutation_p.R327L|ATF7_ENST00000546661.1_5'UTR|RP11-793H13.10_ENST00000591834.1_Missense_Mutation_p.R348L|ATF7_ENST00000328463.7_Missense_Mutation_p.R359L|ATF7_ENST00000548446.2_Missense_Mutation_p.R359L|ATF7_ENST00000456903.4_Missense_Mutation_p.R348L NM_006856.2 NP_006847.1 P17544 ATF7_HUMAN activating transcription factor 7 359 Essential for binding adenovirus 2 E1A. interspecies interaction between organisms cytoplasm|nuclear periphery|nucleoplasm protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1) 9 TTGGCGGCAGCGGGAGGCTGC 0.607000 33 45 3.03874e-20 3.52262e-20 0.015359 1 0 FCF1 51077 broad.mit.edu 37 14 75182665 75182665 + Missense_Mutation SNP C C G rs114572906 by1000genomes TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr14:75182665C>G ENST00000341162.4 + 4 209 c.155C>G c.(154-156)cCt>cGt p.P52R FCF1_ENST00000553615.1_Missense_Mutation_p.P37R|FCF1_ENST00000534938.2_Missense_Mutation_p.P40R NM_015962.4 NP_057046.1 Q9Y324 FCF1_HUMAN FCF1 rRNA-processing protein 52 rRNA processing nucleolus breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1) 8 BRCA - Breast invasive adenocarcinoma(234;0.0037) CCCCAACACCCTTCCTGCTTA 0.373000 12 178 0 0 0.013537 0 0 CTNND2 1501 broad.mit.edu 37 5 11364898 11364898 + Missense_Mutation SNP C C T rs148824970 byFrequency TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr5:11364898C>T ENST00000304623.8 - 8 1471 c.1282G>A c.(1282-1284)Gtc>Atc p.V428I CTNND2_ENST00000359640.2_Missense_Mutation_p.V428I|CTNND2_ENST00000511377.1_Missense_Mutation_p.V337I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_5'UTR|CTNND2_ENST00000503622.1_Missense_Mutation_p.V91I NM_001332.2 NP_001323.1 Q9UQB3 CTND2_HUMAN catenin (cadherin-associated protein), delta 2 428 multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent adherens junction|cytoplasm|nucleus protein binding p.V428I(1) NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2) 136 TTCTGATAGACGCGGTCTTCA 0.617000 15 59 0 0 0.033300 0 0 AVPR1B 553 broad.mit.edu 37 1 206224960 206224960 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr1:206224960C>T ENST00000367126.4 + 1 985 c.520C>T c.(520-522)Ctg>Ttg p.L174L NM_000707.3 NP_000698.1 P47901 V1BR_HUMAN arginine vasopressin receptor 1B 174 activation of phospholipase C activity|elevation of cytosolic calcium ion concentration endosome|integral to plasma membrane protein kinase C binding|vasopressin receptor activity breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2) 20 BRCA - Breast invasive adenocarcinoma(75;0.0312) Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067) CATTTTTTCCCTGCGGGAGGT 0.647000 14 107 0 0 0.016723 0 0 CDK11B 984 broad.mit.edu 37 1 1586909 1586909 + Silent SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr1:1586909G>T ENST00000407249.3 - 2 140 c.141C>A c.(139-141)tcC>tcA p.S47S CDK11B_ENST00000317673.7_Silent_p.S47S|CDK11B_ENST00000341832.6_Silent_p.S13S|CDK11B_ENST00000340677.5_Silent_p.S47S P21127 CD11B_HUMAN cyclin-dependent kinase 11B 47 apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent cytoplasm|nucleus ATP binding|cyclin-dependent protein kinase activity|protein binding endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2) 12 cctcctcaagggaatcccgct 0.408000 18 14 1.40151e-16 1.59422e-16 0.010504 1 0 WEE2 494551 broad.mit.edu 37 7 141418927 141418927 + Missense_Mutation SNP A A T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr7:141418927A>T ENST00000397541.2 + 4 1047 c.641A>T c.(640-642)gAg>gTg p.E214V WEE2-AS1_ENST00000488785.1_RNA NM_001105558.1 NP_001099028.1 P0C1S8 WEE2_HUMAN WEE1 homolog 2 (S. pombe) 214 Protein kinase. egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I centrosome|nucleus ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1) 31 Melanoma(164;0.0171) GAATTCTTGGAGGTTGAAAAA 0.353000 60 52 0 0 0.014410 0 0 LARP4B 23185 broad.mit.edu 37 10 931622 931622 + Nonsense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr10:931622G>A ENST00000316157.3 - 1 80 c.40C>T c.(40-42)Cag>Tag p.Q14* NM_015155.1 NP_055970.1 Q92615 LAR4B_HUMAN La ribonucleoprotein domain family, member 4B 14 nucleotide binding|RNA binding NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2) 38 CTCTGCGTCTGCGGTTCAGCC 0.512000 26 45 0 0 0.012213 0 0 SSTR4 6754 broad.mit.edu 37 20 23016973 23016973 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr20:23016973G>A ENST00000255008.3 + 1 917 c.853G>A c.(853-855)Gtg>Atg p.V285M RP4-753D10.3_ENST00000440921.1_RNA NM_001052.2 NP_001043.2 P31391 SSR4_HUMAN somatostatin receptor 4 285 G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation integral to plasma membrane somatostatin receptor activity p.V285M(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1) 32 Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118) GAACCTCTTCGTGACCAGCCT 0.552000 42 127 0 0 0.036044 0 0 ADAMTS3 9508 broad.mit.edu 37 4 73149358 73149358 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr4:73149358G>A ENST00000286657.4 - 22 3149 c.3113C>T c.(3112-3114)tCc>tTc p.S1038F NM_014243.2 NP_055058.2 O15072 ATS3_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 3 1038 PLAC. collagen catabolic process|collagen fibril organization|proteolysis proteinaceous extracellular matrix heparin binding|metalloendopeptidase activity|zinc ion binding NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 76 Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154) ACCTGGTATGGAGCAGTATCG 0.418000 7 116 0 0 0.038147 0 0 TUBA3E 112714 broad.mit.edu 37 2 130951598 130951598 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr2:130951598C>T ENST00000312988.7 - 4 917 c.817G>A c.(817-819)Gcc>Acc p.A273T NM_207312.2 NP_997195.1 Q6PEY2 TBA3E_HUMAN tubulin, alpha 3e 273 microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|structural molecule activity endometrium(4)|kidney(7)|large_intestine(6)|lung(9)|skin(2) 28 Colorectal(110;0.1) ATGACTGGGGCGTAGGTGGCC 0.597000 32 199 0 0 0.033182 0 0 DICER1 23405 broad.mit.edu 37 14 95584087 95584087 + Missense_Mutation SNP T T C rs141163928 TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr14:95584087T>C ENST00000526495.1 - 11 1672 c.1381A>G c.(1381-1383)Ata>Gta p.I461V DICER1_ENST00000527414.1_Missense_Mutation_p.I461V|DICER1_ENST00000541352.1_Missense_Mutation_p.I461V|DICER1_ENST00000393063.1_Missense_Mutation_p.I461V|DICER1_ENST00000343455.3_Missense_Mutation_p.I461V Q9UPY3 DICER_HUMAN dicer 1, ribonuclease type III 461 Helicase C-terminal.|Required for interaction with PRKRA and TARBP2. negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference cytosol|RNA-induced silencing complex ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3) 75 all_cancers(154;0.0621)|all_epithelial(191;0.223) Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215) GCTTCCTTTATCAATCTAAGA 0.348000 """Mis F, N""" """sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma""" pleuropulmonary blastoma Familial Multinodular Goiter ;DICER 1 syndrome 8 43 0 0 0.038147 0 0 BPIFB4 149954 broad.mit.edu 37 20 31677343 31677343 + Missense_Mutation SNP G G C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr20:31677343G>C ENST00000375483.3 + 7 1030 c.1030G>C c.(1030-1032)Gac>Cac p.D344H NM_182519.2 NP_872325.2 P59827 LPLC4_HUMAN BPI fold containing family B, member 4 344 cytoplasm|extracellular region lipid binding TCTTGTCAATGACCAGCTGGG 0.582000 54 66 0 0 0.014410 0 0 UGT3A2 167127 broad.mit.edu 37 5 36049095 36049095 + Missense_Mutation SNP A A G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr5:36049095A>G ENST00000282507.3 - 4 840 c.739T>C c.(739-741)Tgg>Cgg p.W247R UGT3A2_ENST00000545528.1_Intron|UGT3A2_ENST00000513300.1_Missense_Mutation_p.W213R|UGT3A2_ENST00000504954.1_Intron NM_174914.3 NP_777574.2 Q3SY77 UD3A2_HUMAN UDP glycosyltransferase 3 family, polypeptide A2 247 integral to membrane glucuronosyltransferase activity NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3) 43 all_lung(31;0.000179) Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202) TTAATGAACCACAACTCTGCT 0.428000 66 77 0 0 0.014410 0 0 ABCG8 64241 broad.mit.edu 37 2 44078781 44078781 + Missense_Mutation SNP C C G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr2:44078781C>G ENST00000272286.2 + 4 471 c.381C>G c.(379-381)atC>atG p.I127M NM_022437.2 NP_071882.1 Q9H221 ABCG8_HUMAN ATP-binding cassette, sub-family G (WHITE), member 8 127 ABC transporter. cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption apical plasma membrane|integral to membrane ATP binding|ATPase activity|protein heterodimerization activity NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 45 all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175) GCGGCAAGATCAAGTCAGGCC 0.602000 42 48 0 0 0.030466 0 0 FLG 2312 broad.mit.edu 37 1 152281214 152281214 + Missense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr1:152281214G>T ENST00000368799.1 - 3 6183 c.6148C>A c.(6148-6150)Cat>Aat p.H2050N FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA NM_002016.1 NP_002007.1 P20930 FILA_HUMAN filaggrin 2050 Ser-rich. keratinocyte differentiation cytoplasmic membrane-bounded vesicle|intermediate filament calcium ion binding|structural molecule activity autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12) 424 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) TCTTCTGAATGTCCCTCACTG 0.562000 Ichthyosis 30 863 1.08312e-15 1.2244e-15 0.041601 1 0 KMT2D 8085 broad.mit.edu 37 12 49435964 49435964 + Nonsense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr12:49435964C>T ENST00000301067.7 - 28 6016 c.6017G>A c.(6016-6018)tGg>tAg p.W2006* NM_003482.3 NP_003473.3 lysine (K)-specific methyltransferase 2D ATCCTTCTCCCAGCGCTGAAG 0.582000 11 3 0 0 0.008291 0 0 PLCB1 23236 broad.mit.edu 37 20 8745992 8745992 + Missense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr20:8745992G>T ENST00000378641.3 + 26 3392 c.2917G>T c.(2917-2919)Gac>Tac p.D973Y PLCB1_ENST00000378637.2_Missense_Mutation_p.D973Y|PLCB1_ENST00000338037.6_Missense_Mutation_p.D973Y|PLCB1_ENST00000494924.1_3'UTR NM_182734.1 NP_877398.1 Q9NQ66 PLCB1_HUMAN phospholipase C, beta 1 (phosphoinositide-specific) 973 activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission cytosol|nuclear chromatin|nuclear speck calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4) 95 CGCCAAAAAGGACAGTAAGAA 0.328000 31 27 7.63505e-26 9.02324e-26 0.012213 1 0 SLC6A3 6531 broad.mit.edu 37 5 1416215 1416215 + Nonsense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr5:1416215G>T ENST00000270349.9 - 7 1156 c.1029C>A c.(1027-1029)taC>taA p.Y343* SLC6A3_ENST00000453492.2_Nonsense_Mutation_p.Y343* NM_001044.4 NP_001035.1 Q01959 SC6A3_HUMAN solute carrier family 6 (neurotransmitter transporter), member 3 343 cell death|neurotransmitter biosynthetic process axon|cytoplasm|integral to plasma membrane|neuronal cell body breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 38 OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262) Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721) GGGCTCACCTGTAGCAGTTGT 0.587000 14 57 1.05317e-09 1.14777e-09 0.020292 1 0 IL2 3558 broad.mit.edu 37 4 123377563 123377563 + Silent SNP T T C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr4:123377563T>C ENST00000226730.4 - 1 317 c.33A>G c.(31-33)gcA>gcG p.A11A NM_000586.3 NP_000577.2 P60568 IL2_HUMAN interleukin 2 11 anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation extracellular space cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity endometrium(2)|large_intestine(4)|lung(6)|skin(1) 13 LUSC - Lung squamous cell carcinoma(721;0.185) CAAGACTTAGTGCAATGCAAG 0.413000 T TNFRSF17 intestinal T-cell lymphoma 39 22 0 0 0.033182 0 0 SLC1A6 6511 broad.mit.edu 37 19 15072831 15072831 + Silent SNP C C A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr19:15072831C>A ENST00000598504.1 - 8 2277 c.918G>T c.(916-918)ctG>ctT p.L306L SLC1A6_ENST00000600144.1_Silent_p.L306L|SLC1A6_ENST00000221742.3_Silent_p.L306L|SLC1A6_ENST00000544886.2_Silent_p.L306L|SLC1A6_ENST00000430939.2_Silent_p.L242L NM_001272087.1 NP_001259016.1 P48664 EAA4_HUMAN solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 306 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 42 L-Glutamic Acid(DB00142) TGATGCCCACCAGCCTCATAA 0.572000 4 92 0.00909568 0.00924812 0.009096 1 0 SBK2 646643 broad.mit.edu 37 19 56042631 56042631 + Missense_Mutation SNP G G C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr19:56042631G>C ENST00000413299.1 - 3 372 c.335C>G c.(334-336)tCg>tGg p.S112W SBK2_ENST00000344158.3_Missense_Mutation_p.S112W NM_001101401.2 NP_001094871.2 P0C263 SBK2_HUMAN SH3 domain binding kinase family, member 2 112 Protein kinase. ATP binding|protein serine/threonine kinase activity endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 9 CGCGCCCAGCGAGAGCCCCAC 0.667000 5 24 0 0 0.014758 0 0 ZNF484 83744 broad.mit.edu 37 9 95609196 95609196 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr9:95609196C>T ENST00000395505.2 - 3 1857 c.1765G>A c.(1765-1767)Gta>Ata p.V589I ZNF484_ENST00000375495.3_Missense_Mutation_p.V625I|ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000395506.3_Missense_Mutation_p.V627I|ZNF484_ENST00000332591.6_Missense_Mutation_p.V589I NM_001261459.1|NM_001261460.1 NP_001248388.1|NP_001248389.1 Q5JVG2 ZN484_HUMAN zinc finger protein 484 625 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2) 33 TGCTGATGTACGTGGAGCTGT 0.393000 25 41 0 0 0.016522 0 0 FRG1BP 284802 broad.mit.edu 37 20 29628300 29628300 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr20:29628300G>A ENST00000278882.3 + 6 682 c.302G>A c.(301-303)aGt>aAt p.S101N FRG1B_ENST00000439954.2_Missense_Mutation_p.S106N|FRG1B_ENST00000358464.4_Missense_Mutation_p.S101N p.S101N(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GAAGCAAAAAGTAAAACAGCA 0.358000 5 88 0 0 0.021553 0 0 GLRA2 2742 broad.mit.edu 37 X 14748410 14748410 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chrX:14748410G>A ENST00000218075.4 + 9 1692 c.1162G>A c.(1162-1164)Gct>Act p.A388T GLRA2_ENST00000355020.4_Missense_Mutation_p.A388T|GLRA2_ENST00000443437.2_Missense_Mutation_p.A299T NM_002063.3 NP_002054.1 P23416 GLRA2_HUMAN glycine receptor, alpha 2 388 neuropeptide signaling pathway cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2) 37 Hepatocellular(33;0.128) Ethanol(DB00898)|Glycine(DB00145) AGATGGAACAGCTGTCAAGGC 0.473000 7 172 0 0 0.029380 0 0 PCDHB1 29930 broad.mit.edu 37 5 140431883 140431883 + Silent SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr5:140431883G>T ENST00000306549.3 + 1 905 c.828G>T c.(826-828)gcG>gcT p.A276A NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 276 Cadherin 3. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CCAACAAAGCGATAACTTACT 0.507000 7 31 0.00198382 0.00203986 0.029380 1 0 TTN 7273 broad.mit.edu 37 2 179463494 179463494 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr2:179463494C>T ENST00000589042.1 - 291 57167 c.56943G>A c.(56941-56943)gcG>gcA p.A18981A TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.A16413A|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.A17340A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Silent_p.A9916A|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Silent_p.A10041A|TTN_ENST00000342175.6_Silent_p.A10108A|TTN-AS1_ENST00000589907.1_RNA NM_001267550.1 NP_001254479.1 Q8WZ42 TITIN_HUMAN titin 17340 Fibronectin type-III 37. ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.A16411A(1)|p.A9916A(1)|p.A10108A(1)|p.A10041A(1) NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26) 1448 OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134) CTCTAGCAGTCGCTGGGTCTG 0.418000 56 162 0 0 0.014410 0 0 GPC5 2262 broad.mit.edu 37 13 92380812 92380812 + Silent SNP A A T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr13:92380812A>T ENST00000377067.3 + 4 1419 c.1047A>T c.(1045-1047)gtA>gtT p.V349V GPC5_ENST00000483422.1_3'UTR NM_004466.4 NP_004457.1 P78333 GPC5_HUMAN glypican 5 349 anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1) 69 all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163) Lung NSC(4;0.00454) GCCGCCCTGTAAGAACACCCA 0.423000 14 126 0 0 0.016723 0 0 PIP5K1B 8395 broad.mit.edu 37 9 71532547 71532547 + Silent SNP G G A rs61752951 byFrequency TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr9:71532547G>A ENST00000265382.3 + 9 1160 c.855G>A c.(853-855)gaG>gaA p.E285E PIP5K1B_ENST00000541509.1_Silent_p.E285E NM_003558.2 NP_003549.1 O14986 PI51B_HUMAN phosphatidylinositol-4-phosphate 5-kinase, type I, beta 285 PIPK. endomembrane system|membrane|uropod 1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding breast(1)|large_intestine(2)|stomach(1) 4 Lung(182;0.133) AGAAAGAGGAGGAGACCCCAC 0.463000 10 215 0 0 0.006214 0 0 RAPGEF1 2889 broad.mit.edu 37 9 134473675 134473675 + Missense_Mutation SNP G G C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr9:134473675G>C ENST00000372195.1 - 13 2260 c.2017C>G c.(2017-2019)Ctg>Gtg p.L673V RAPGEF1_ENST00000372189.3_Missense_Mutation_p.L656V|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.L674V Q13905 RPGF1_HUMAN Rap guanine nucleotide exchange factor (GEF) 1 656 activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|endosome guanyl-nucleotide exchange factor activity|SH3 domain binding NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1) 39 Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364) GCCGACTCCAGAGCATCTGGT 0.582000 10 16 0 0 0.006214 0 0 NXPH1 30010 broad.mit.edu 37 7 8790658 8790658 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr7:8790658G>A ENST00000405863.1 + 3 986 c.75G>A c.(73-75)acG>acA p.T25T NXPH1_ENST00000497400.1_3'UTR|NXPH1_ENST00000602349.1_5'UTR NM_152745.2 NP_689958.1 P58417 NXPH1_HUMAN neurexophilin 1 25 II. extracellular region breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1) 17 Ovarian(82;0.0628) UCEC - Uterine corpus endometrioid carcinoma (126;0.101) CCAATTTAACGAACGGTGGAA 0.423000 69 71 0 0 0.014410 0 0 SERPINC1 462 broad.mit.edu 37 1 173881055 173881055 + Missense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr1:173881055G>T ENST00000367698.3 - 3 624 c.506C>A c.(505-507)tCc>tAc p.S169Y NM_000488.3 NP_000479.1 P01008 ANT3_HUMAN serpin peptidase inhibitor, clade C (antithrombin), member 1 169 blood coagulation|regulation of proteolysis extracellular space|plasma membrane heparin binding|protease binding|serine-type endopeptidase inhibitor activity NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1) 25 Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109) TAACTTGGAGGATTTGTTGGC 0.423000 18 186 7.07596e-05 7.44407e-05 0.038395 1 0 NOS2 4843 broad.mit.edu 37 17 26114800 26114800 + Missense_Mutation SNP C C T rs148763708 byFrequency TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr17:26114800C>T ENST00000313735.6 - 5 604 c.371G>A c.(370-372)aGt>aAt p.S124N NM_000625.4 NP_000616.3 P35228 NOS2_HUMAN nitric oxide synthase 2, inducible 124 arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process cytosol|nucleus arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 56 Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155) TCTGGTCAAACTTTTGGGAGT 0.498000 6 164 0 0 0.021553 0 0 OSR1 130497 broad.mit.edu 37 2 19552911 19552911 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr2:19552911C>T ENST00000536433.1 - 1 3766 c.656G>A c.(655-657)cGa>cAa p.R219Q OSR1_ENST00000272223.2_Missense_Mutation_p.R219Q Q8TAX0 OSR1_HUMAN odd-skipped related transciption factor 1 219 chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development nucleolus nucleic acid binding|zinc ion binding breast(1)|large_intestine(2)|lung(4)|ovary(1) 8 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197) Acute lymphoblastic leukemia(84;0.221) CCTGTGGTCTCGCAGGTGGTC 0.597000 48 65 0 0 0.014410 0 0 DKK3 27122 broad.mit.edu 37 11 12030045 12030045 + Missense_Mutation SNP A A T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr11:12030045A>T ENST00000396505.2 - 2 323 c.85T>A c.(85-87)Tcg>Acg p.S29T DKK3_ENST00000326932.4_Missense_Mutation_p.S29T|DKK3_ENST00000525493.1_Missense_Mutation_p.S29T|DKK3_ENST00000450094.2_Missense_Mutation_p.S29T|DKK3_ENST00000527132.1_5'UTR NM_015881.5 NP_056965.3 Q9UBP4 DKK3_HUMAN dickkopf WNT signaling pathway inhibitor 3 29 O-glycosylated at one site. adrenal gland development|anatomical structure morphogenesis|negative regulation of aldosterone biosynthetic process|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cortisol biosynthetic process|negative regulation of transcription, DNA-dependent|Wnt receptor signaling pathway extracellular space breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|pancreas(1) 8 Epithelial(150;0.000502) ACTGGAGCCGAGGTCGCCGTC 0.716000 3 13 0 0 0.009096 0 0 MAGI1 9223 broad.mit.edu 37 3 65376930 65376930 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr3:65376930G>A ENST00000330909.8 - 14 2302 c.2303C>T c.(2302-2304)cCc>cTc p.P768L MAGI1_ENST00000483466.1_Missense_Mutation_p.P768L|MAGI1_ENST00000497477.2_Missense_Mutation_p.P768L|MAGI1_ENST00000402939.2_Missense_Mutation_p.P768L NM_015520.1 NP_056335.1 Q96QZ7 MAGI1_HUMAN membrane associated guanylate kinase, WW and PDZ domain containing 1 768 cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly tight junction ATP binding|protein C-terminus binding breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5) 51 Lung NSC(201;0.0016) BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133) TGGGAACTCGGGGAGCACCTG 0.547000 54 25 0 0 0.014410 0 0 SPAM1 6677 broad.mit.edu 37 7 123593871 123593871 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr7:123593871G>A ENST00000340011.5 + 3 604 c.247G>A c.(247-249)Gcc>Acc p.A83T SPAM1_ENST00000460182.1_Missense_Mutation_p.A83T|SPAM1_ENST00000439500.1_Missense_Mutation_p.A83T|SPAM1_ENST00000223028.7_Missense_Mutation_p.A83T|SPAM1_ENST00000402183.2_Missense_Mutation_p.A83T NM_003117.4 NP_003108.2 P38567 HYALP_HUMAN sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) 83 binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane anchored to membrane|plasma membrane hyalurononglucosaminidase activity breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 Hyaluronidase(DB00070) CCGAATAAACGCCACCGGGCA 0.443000 26 33 0 0 0.018920 0 0 HHIP 64399 broad.mit.edu 37 4 145581029 145581029 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr4:145581029C>T ENST00000434550.2 + 4 1374 c.870C>T c.(868-870)taC>taT p.Y290Y HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000296575.3_Intron Q96QV1 HHIP_HUMAN hedgehog interacting protein 155 cytoplasm|extracellular region catalytic activity|protein binding|zinc ion binding central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 33 all_hematologic(180;0.151) GBM - Glioblastoma multiforme(119;0.0185) GTGCTGGCTACGTTAATTTTA 0.313000 5 10 0 0 0.014758 0 0 KIAA1522 57648 broad.mit.edu 37 1 33235551 33235551 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr1:33235551C>T ENST00000401073.2 + 6 841 c.771C>T c.(769-771)ccC>ccT p.P257P KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Silent_p.P209P|KIAA1522_ENST00000373480.1_Silent_p.P198P NM_020888.2 NP_065939.2 Q9P206 K1522_HUMAN KIAA1522 198 breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244) TACGCATCCCCACAGTGGACG 0.721000 13 14 0 0 0.013537 0 0 KCNK13 56659 broad.mit.edu 37 14 90650616 90650616 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr14:90650616C>T ENST00000282146.4 + 2 937 c.496C>T c.(496-498)Cgg>Tgg p.R166W NM_022054.2 NP_071337.2 Q9HB14 KCNKD_HUMAN potassium channel, subfamily K, member 13 166 integral to membrane potassium channel activity|voltage-gated ion channel activity haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4) 25 all_cancers(154;0.186) GCGGCAGCTCCGGAGACGAGG 0.612000 5 76 0 0 0.021553 0 0 KCNG2 26251 broad.mit.edu 37 18 77659522 77659522 + Silent SNP C C T rs3744887 TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr18:77659522C>T ENST00000316249.3 + 2 1107 c.1107C>T c.(1105-1107)acC>acT p.T369T KCNG2_ENST00000590307.1_3'UTR NM_012283.1 NP_036415.1 Q9UJ96 KCNG2_HUMAN potassium voltage-gated channel, subfamily G, member 2 369 energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion voltage-gated potassium channel complex delayed rectifier potassium channel activity breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4) 18 Esophageal squamous(42;0.0157)|Melanoma(33;0.144) OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244) CCATGACCACCGTGGGCTACG 0.706000 25 15 0 0 0.024334 0 0 DNAJB9 4189 broad.mit.edu 37 7 108213555 108213555 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr7:108213555C>T ENST00000249356.3 + 3 976 c.430C>T c.(430-432)Cgc>Tgc p.R144C DNAJB9_ENST00000465725.1_Intron NM_012328.2 NP_036460.1 Q9UBS3 DNJB9_HUMAN DnaJ (Hsp40) homolog, subfamily B, member 9 144 ER-associated protein catabolic process|protein folding endoplasmic reticulum|nucleolus heat shock protein binding|misfolded protein binding|unfolded protein binding p.R144C(1) central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 13 TTTCCAGACACGCCAGGATGG 0.348000 21 62 0 0 0.010504 0 0 DNAJC14 85406 broad.mit.edu 37 12 56221350 56221350 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr12:56221350G>A ENST00000357606.3 - 3 1382 c.1093C>T c.(1093-1095)Ctc>Ttc p.L365F DNAJC14_ENST00000317287.5_Missense_Mutation_p.L365F|DNAJC14_ENST00000317269.3_Missense_Mutation_p.L365F Q6Y2X3 DJC14_HUMAN DnaJ (Hsp40) homolog, subfamily C, member 14 365 protein folding|protein transport endoplasmic reticulum membrane|integral to membrane heat shock protein binding|unfolded protein binding breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1) 23 CAAGAGAAGAGCCAGGTAGCC 0.567000 22 70 0 0 0.010504 0 0 COPB1 1315 broad.mit.edu 37 11 14504607 14504607 + Missense_Mutation SNP C C G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr11:14504607C>G ENST00000249923.3 - 8 1228 c.928G>C c.(928-930)Gag>Cag p.E310Q COPB1_ENST00000439561.2_Missense_Mutation_p.E310Q NM_016451.4 NP_057535.1 P53618 COPB_HUMAN coatomer protein complex, subunit beta 1 310 COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane protein binding|structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 36 GCAGGATGCTCTTTTAATTCT 0.333000 27 5 0 0 0.034045 0 0 FNDC9 408263 broad.mit.edu 37 5 156770492 156770492 + Nonsense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr5:156770492G>T ENST00000312349.4 - 2 240 c.53C>A c.(52-54)tCg>tAg p.S18* CYFIP2_ENST00000442283.2_Intron|CYFIP2_ENST00000347377.6_Intron|CYFIP2_ENST00000521420.1_Intron|CYFIP2_ENST00000377576.3_Intron|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000541131.1_Intron|CYFIP2_ENST00000318218.6_Intron|CYFIP2_ENST00000435847.2_Intron NM_001001343.3 NP_001001343.2 Q8TBE3 FNDC9_HUMAN fibronectin type III domain containing 9 18 Fibronectin type-III. integral to membrane central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1) 9 CTCCGAGGACGACCAGGAGAT 0.498000 16 42 3.57192e-18 4.08862e-18 0.038395 1 0 NKD2 85409 broad.mit.edu 37 5 1033581 1033581 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr5:1033581G>A ENST00000296849.5 + 5 526 c.297G>A c.(295-297)ccG>ccA p.P99P NKD2_ENST00000274150.4_Silent_p.P99P|NKD2_ENST00000537972.1_Silent_p.P99P NM_033120.2 NP_149111.1 Q969F2 NKD2_HUMAN naked cuticle homolog 2 (Drosophila) 99 Targeting to the basolateral cell membrane. exocytosis|Wnt receptor signaling pathway cytoplasmic membrane-bounded vesicle|plasma membrane calcium ion binding|ubiquitin protein ligase binding breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1) 14 Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09) Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165) GCGAGGGCCCGCGAGGACCGG 0.692000 4 2 0 0 0.014758 0 0 SHOX2 6474 broad.mit.edu 37 3 157820514 157820514 + Nonsense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr3:157820514G>A ENST00000490689.2 - 2 1654 c.121C>T c.(121-123)Cga>Tga p.R41* SHOX2_ENST00000483851.2_Nonsense_Mutation_p.R170*|SHOX2_ENST00000441443.2_Nonsense_Mutation_p.R41*|SHOX2_ENST00000389589.4_Nonsense_Mutation_p.R194*|SHOX2_ENST00000425436.3_Nonsense_Mutation_p.R170*|SHOX2_ENST00000554685.1_5'UTR O60902 SHOX2_HUMAN short stature homeobox 2 170 nervous system development nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1) 20 Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043) AGTTCCTCTCGCATGAAGGCG 0.597000 23 246 0 0 0.016522 0 0 CYP4F12 66002 broad.mit.edu 37 19 15784508 15784508 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr19:15784508C>T ENST00000550308.1 + 2 549 c.169C>T c.(169-171)Cgg>Tgg p.R57W CYP4F12_ENST00000324632.9_Missense_Mutation_p.R57W NM_023944.3 NP_076433.3 cytochrome P450, family 4, subfamily F, polypeptide 12 NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2) 41 Acute lymphoblastic leukemia(2;0.0367) GCCCCCAAAACGGAACTGGTT 0.592000 6 123 0 0 0.021553 0 0 TICAM1 148022 broad.mit.edu 37 19 4816803 4816803 + Missense_Mutation SNP C C A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr19:4816803C>A ENST00000248244.5 - 2 1816 c.1587G>T c.(1585-1587)aaG>aaT p.K529N NM_182919.3 NP_891549.1 Q8IUC6 TCAM1_HUMAN toll-like receptor adaptor molecule 1 529 Sufficient to induce apoptosis. apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane protein kinase binding|signal transducer activity NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 26 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139) GCCTGTGGGGCTTGAAGGTGT 0.657000 13 23 7.93312e-07 8.44344e-07 0.020292 1 0 ATP9A 10079 broad.mit.edu 37 20 50234077 50234077 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr20:50234077G>A ENST00000338821.5 - 22 2631 c.2367C>T c.(2365-2367)gaC>gaT p.D789D ATP9A_ENST00000402822.1_Silent_p.D668D|ATP9A_ENST00000311637.5_Silent_p.D653D NM_006045.1 NP_006036.1 O75110 ATP9A_HUMAN ATPase, class II, type 9A 789 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 breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 48 TCATGCTGACGTCATTGCCTC 0.498000 6 11 0 0 0.038147 0 0 FEZF1 389549 broad.mit.edu 37 7 121943848 121943848 + Missense_Mutation SNP C C G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr7:121943848C>G ENST00000442488.2 - 1 711 c.644G>C c.(643-645)gGa>gCa p.G215A FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.G215A|FEZF1_ENST00000427185.2_Missense_Mutation_p.G165A NM_001024613.2|NM_001160264.1 NP_001019784.2|NP_001153736.1 A0PJY2 FEZF1_HUMAN FEZ family zinc finger 1 215 cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1) 25 GAAAGCTACTCCAGAAGGGTA 0.507000 23 55 0 0 0.016522 0 0 TAOK2 9344 broad.mit.edu 37 16 29993064 29993064 + Missense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr16:29993064G>T ENST00000308893.4 + 9 1781 c.738G>T c.(736-738)caG>caT p.Q246H TAOK2_ENST00000416441.2_Missense_Mutation_p.Q73H|TAOK2_ENST00000279394.3_Missense_Mutation_p.Q246H|TAOK2_ENST00000543033.1_Missense_Mutation_p.Q246H NM_001252043.1|NM_016151.3 NP_001238972.1|NP_057235.2 Q9UL54 TAOK2_HUMAN TAO kinase 2 246 Protein kinase. actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus ATP binding|protein serine/threonine kinase activity breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1) 22 CCGTGCTCCAGTCAGGACACT 0.542000 14 59 7.93312e-07 8.44344e-07 0.020292 1 0 TNFRSF10A 8797 broad.mit.edu 37 8 23082438 23082438 + Missense_Mutation SNP T T C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr8:23082438T>C ENST00000221132.3 - 1 201 c.137A>G c.(136-138)gAa>gGa p.E46G RP11-1149O23.3_ENST00000517774.1_RNA NM_003844.3 NP_003835.3 O00220 TR10A_HUMAN tumor necrosis factor receptor superfamily, member 10a 46 activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1) 16 Prostate(55;0.0421)|Breast(100;0.14) Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646) GCCTCGTGGTTCAATCCTCCC 0.726000 3 1 0 0 0.004672 0 0 CCT6A 908 broad.mit.edu 37 7 56120139 56120139 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr7:56120139C>T ENST00000275603.4 + 2 381 c.162C>T c.(160-162)atC>atT p.I54I CCT6A_ENST00000335503.3_Silent_p.I54I|CCT6A_ENST00000540286.1_Silent_p.I23I NM_001762.3 NP_001753.1 P40227 TCPZ_HUMAN chaperonin containing TCP1, subunit 6A (zeta 1) 54 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1) 15 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CTGGAGACATCAAACTTACTA 0.423000 48 88 0 0 0.014410 0 0 F13A1 2162 broad.mit.edu 37 6 6266932 6266932 + Silent SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr6:6266932G>T ENST00000264870.3 - 4 695 c.430C>A c.(430-432)Cgg>Agg p.R144R NM_000129.3 NP_000120.2 P00488 F13A_HUMAN coagulation factor XIII, A1 polypeptide 144 peptide cross-linking|platelet activation|platelet degranulation extracellular region|platelet alpha granule lumen acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 62 Ovarian(93;0.0816) all_hematologic(90;0.152) L-Glutamine(DB00130) ATGGACAGCCGCACAGACCTG 0.512000 20 43 3.99206e-14 4.40336e-14 0.043863 1 0 ABCA5 23461 broad.mit.edu 37 17 67302927 67302927 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr17:67302927C>T ENST00000392676.3 - 6 791 c.727G>A c.(727-729)Gaa>Aaa p.E243K ABCA5_ENST00000392677.2_Missense_Mutation_p.E243K|ABCA5_ENST00000588877.1_Missense_Mutation_p.E243K Q8WWZ7 ABCA5_HUMAN ATP-binding cassette, sub-family A (ABC1), member 5 243 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) TTTTCTTTTTCTGCTACGATA 0.254000 13 32 0 0 0.013537 0 0 SH3PXD2B 285590 broad.mit.edu 37 5 171849445 171849445 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr5:171849445C>T ENST00000311601.5 - 2 301 c.131G>A c.(130-132)cGc>cAc p.R44H SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.R44H NM_001017995.2 NP_001017995.1 A1X283 SPD2B_HUMAN SH3 and PX domains 2B 44 PX. adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly cell junction|cell projection|cytoplasm|podosome phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 36 Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175) Medulloblastoma(196;0.0207)|all_neural(177;0.0625) Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516) CTTGCTGTAGCGCCGGTAAAT 0.517000 6 11 0 0 0.021553 0 0 ZDHHC23 254887 broad.mit.edu 37 3 113672830 113672830 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr3:113672830C>T ENST00000330212.3 + 3 744 c.445C>T c.(445-447)Ctg>Ttg p.L149L ZDHHC23_ENST00000498275.1_Silent_p.L143L NM_173570.3 NP_775841.2 Q8IYP9 ZDH23_HUMAN zinc finger, DHHC-type containing 23 149 integral to membrane acyltransferase activity|zinc ion binding p.L149V(1) NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2) 16 ACTGTTCTCTCTGGGCTACAT 0.522000 34 96 0 0 0.045705 0 0 ASB9 140462 broad.mit.edu 37 X 15270437 15270437 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chrX:15270437G>A ENST00000546332.1 - 5 855 c.372C>T c.(370-372)caC>caT p.H124H ASB9_ENST00000380488.4_Silent_p.H124H|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380483.3_Silent_p.H124H|ASB9_ENST00000380485.3_Silent_p.H124H NM_001168531.1 NP_001162003.1 Q96DX5 ASB9_HUMAN ankyrin repeat and SOCS box containing 9 124 intracellular signal transduction breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10) 15 Hepatocellular(33;0.183) CGCTGGCTCCGTGCTGCAGAA 0.488000 46 13 0 0 0.014410 0 0 TMEM26 219623 broad.mit.edu 37 10 63170317 63170317 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr10:63170317G>A ENST00000399298.3 - 6 1238 c.870C>T c.(868-870)gcC>gcT p.A290A TMEM26_ENST00000507507.1_5'UTR NM_178505.6 NP_848600.2 Q6ZUK4 TMM26_HUMAN transmembrane protein 26 290 integral to membrane kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1) 18 Prostate(12;0.0112) AGTTCTTCGCGGCAAAGAACA 0.507000 3 46 0 0 0.004672 0 0 DOT1L 84444 broad.mit.edu 37 19 2223362 2223362 + Missense_Mutation SNP A A G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr19:2223362A>G ENST00000398665.3 + 25 3509 c.3473A>G c.(3472-3474)cAg>cGg p.Q1158R NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 1158 nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9) 42 Hepatocellular(1079;0.137) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) GTGCCCTACCAGGACCACGAC 0.622000 11 62 0 0 0.010729 0 0 FUT5 2527 broad.mit.edu 37 19 5867388 5867388 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr19:5867388C>T ENST00000252675.5 - 5 911 c.349G>A c.(349-351)Gac>Aac p.D117N FUT5_ENST00000588525.1_Missense_Mutation_p.D117N Q11128 FUT5_HUMAN fucosyltransferase 5 (alpha (1,3) fucosyltransferase) 117 L-fucose catabolic process|protein glycosylation Golgi cisterna membrane|integral to membrane 3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1) 12 ATGACCGCGTCTGCCTGTGGG 0.642000 21 38 0 0 0.012319 0 0 EXT2 2132 broad.mit.edu 37 11 44146485 44146485 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr11:44146485G>A ENST00000395673.3 + 5 1045 c.989G>A c.(988-990)cGt>cAt p.R330H EXT2_ENST00000533608.1_Missense_Mutation_p.R297H|EXT2_ENST00000358681.4_Missense_Mutation_p.R297H|EXT2_ENST00000343631.3_Missense_Mutation_p.R297H NM_000401.3 NP_000392.3 Q93063 EXT2_HUMAN exostosin glycosyltransferase 2 297 glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2) 32 CTTTCTGTCCGTAAGCGCTGC 0.502000 """Mis, N, F, S""" """exostoses, osteosarcoma""" Hereditary Multiple Exostoses 19 75 0 0 0.008871 0 0 OR52N1 79473 broad.mit.edu 37 11 5809550 5809550 + Missense_Mutation SNP T T C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr11:5809550T>C ENST00000317078.1 - 1 496 c.497A>G c.(496-498)aAg>aGg p.K166R TRIM5_ENST00000380027.1_Intron NM_001001913.1 NP_001001913.1 Q8NH53 O52N1_HUMAN olfactory receptor, family 52, subfamily N, member 1 166 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3) 31 Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086) Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195) TGGAAGGCGCTTGGTGAGGAA 0.488000 15 32 0 0 0.024245 0 0 TTLL9 164395 broad.mit.edu 37 20 30486334 30486334 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr20:30486334C>T ENST00000375938.4 + 4 425 c.172C>T c.(172-174)Ctt>Ttt p.L58F TTLL9_ENST00000535842.1_Missense_Mutation_p.L58F|TTLL9_ENST00000375934.4_Missense_Mutation_p.L40F|TTLL9_ENST00000375921.2_Missense_Mutation_p.L8F|TTLL9_ENST00000375922.4_Missense_Mutation_p.L8F|TTLL9_ENST00000310998.4_Missense_Mutation_p.L8F Q3SXZ7 TTLL9_HUMAN tubulin tyrosine ligase-like family, member 9 58 TTL. protein modification process cilium|microtubule|microtubule basal body ATP binding|tubulin-tyrosine ligase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1) 26 Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347) CATGGACGTCCTTCGCCACAG 0.522000 24 45 0 0 0.024334 0 0 MGAM 8972 broad.mit.edu 37 7 141721402 141721402 + Missense_Mutation SNP A A C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr7:141721402A>C ENST00000475668.2 + 6 629 c.575A>C c.(574-576)aAt>aCt p.N192T MGAM_ENST00000549489.2_Missense_Mutation_p.N192T O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 192 polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) GACCAAACCAATAACAGGTTT 0.433000 10 33 0 0 0.006214 0 0 RHOBTB2 23221 broad.mit.edu 37 8 22864371 22864371 + Nonsense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr8:22864371C>T ENST00000251822.6 + 5 1150 c.613C>T c.(613-615)Cga>Tga p.R205* RP11-875O11.1_ENST00000502083.2_RNA|RHOBTB2_ENST00000522948.1_Nonsense_Mutation_p.R212*|RHOBTB2_ENST00000519685.1_Nonsense_Mutation_p.R227*|RP11-875O11.1_ENST00000523884.1_RNA NM_015178.2 NP_055993.2 Q9BYZ6 RHBT2_HUMAN Rho-related BTB domain containing 2 205 Rho-like. regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol|plasma membrane GTP binding breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1) 31 Prostate(55;0.0513)|Breast(100;0.214) Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064) CAACGCCATCCGAGCTGCACT 0.632000 29 56 0 0 0.030593 0 0 SLC45A4 57210 broad.mit.edu 37 8 142229896 142229896 + Missense_Mutation SNP G G C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr8:142229896G>C ENST00000519067.1 - 3 613 c.310C>G c.(310-312)Ccc>Gcc p.P104A SLC45A4_ENST00000433583.2_Missense_Mutation_p.P97A|SLC45A4_ENST00000517878.1_Missense_Mutation_p.P155A|SLC45A4_ENST00000024061.3_Missense_Mutation_p.P104A Q5BKX6 S45A4_HUMAN solute carrier family 45, member 4 155 transport integral to membrane breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 31 all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0493) ATGCCAATGGGCTGCCGGTTG 0.662000 6 5 0 0 0.029380 0 0 PCDHB12 56124 broad.mit.edu 37 5 140590512 140590512 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr5:140590512C>T ENST00000239450.2 + 1 2222 c.2033C>T c.(2032-2034)cCg>cTg p.P678L PCDHB12_ENST00000541609.1_Missense_Mutation_p.P341L NM_018932.3 NP_061755.1 Q9Y5F1 PCDBC_HUMAN 678 homophilic cell adhesion|nervous system development integral to plasma membrane calcium ion binding NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1) 83 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) GAGGCGGCCCCGGCCCAGGCC 0.692000 11 148 0 0 0.013537 0 0 MFAP5 8076 broad.mit.edu 37 12 8800752 8800752 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr12:8800752G>A ENST00000359478.2 - 10 644 c.457C>T c.(457-459)Cgc>Tgc p.R153C MFAP5_ENST00000543369.1_Missense_Mutation_p.R131C|MFAP5_ENST00000540087.1_Missense_Mutation_p.R143C|MFAP5_ENST00000535336.1_Missense_Mutation_p.R89C|MFAP5_ENST00000433590.2_Missense_Mutation_p.R128C|MFAP5_ENST00000396549.2_Missense_Mutation_p.R143C NM_003480.2 NP_003471.1 Q13361 MFAP5_HUMAN microfibrillar associated protein 5 153 microfibril extracellular matrix structural constituent p.R153C(1) breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1) 13 Lung SC(5;0.184) TAATTGGAGCGACGGAGTCTC 0.458000 27 56 0 0 0.041601 0 0 ZNF713 349075 broad.mit.edu 37 7 56007358 56007358 + Nonsense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr7:56007358C>T ENST00000429591.2 + 4 990 c.952C>T c.(952-954)Caa>Taa p.Q318* MRPS17_ENST00000426595.1_Intron NM_182633.1 NP_872439.1 Q8N859 ZN713_HUMAN zinc finger protein 713 318 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) ATCCTTTACTCAACATCTGAG 0.398000 39 147 0 0 0.027894 0 0 TOX 9760 broad.mit.edu 37 8 59764139 59764139 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr8:59764139C>T ENST00000361421.1 - 4 857 c.637G>A c.(637-639)Gca>Aca p.A213T NM_014729.2 NP_055544.1 O94900 TOX_HUMAN thymocyte selection-associated high mobility group box 213 nucleus DNA binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1) 33 all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607) GAAGGAGTTGCAGACTTGCTT 0.438000 15 79 0 0 0.038395 0 0 RUSC1 23623 broad.mit.edu 37 1 155292476 155292476 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr1:155292476C>T ENST00000368352.5 + 2 1063 c.912C>T c.(910-912)agC>agT p.S304S RUSC1_ENST00000368354.3_Silent_p.S304S|RUSC1-AS1_ENST00000443642.1_RNA|RUSC1-AS1_ENST00000450199.1_RNA NM_001105203.1 NP_001098673.1 Q9BVN2 RUSC1_HUMAN RUN and SH3 domain containing 1 304 cytoplasm|nucleolus SH3/SH2 adaptor activity breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1) 21 Hepatocellular(266;0.0877)|all_hematologic(923;0.145) Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127) GTGACGTCAGCGAGGAGCCGG 0.557000 35 117 0 0 0.013726 0 0 ZNF514 84874 broad.mit.edu 37 2 95815453 95815453 + Silent SNP G G C rs140564139 TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr2:95815453G>C ENST00000295208.2 - 5 1239 c.777C>G c.(775-777)ccC>ccG p.P259P ZNF514_ENST00000411425.1_Silent_p.P259P NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 259 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 TGCATTCATAGGGCTTTTCTC 0.418000 30 130 0 0 0.034045 0 0 TNKS 8658 broad.mit.edu 37 8 9588487 9588487 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr8:9588487G>A ENST00000310430.6 + 14 2115 c.2089G>A c.(2089-2091)Gtg>Atg p.V697M TNKS_ENST00000518281.1_Missense_Mutation_p.V460M NM_003747.2 NP_003738.2 O95271 TNKS1_HUMAN tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 697 mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2) 49 COAD - Colon adenocarcinoma(149;0.0467) CTACAACCGCGTGTCTGTTGT 0.502000 33 6 0 0 0.045705 0 0 TRA2A 29896 broad.mit.edu 37 7 23561437 23561437 + Missense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr7:23561437G>T ENST00000297071.4 - 2 275 c.59C>A c.(58-60)tCt>tAt p.S20Y TRA2A_ENST00000392502.4_5'UTR|TRA2A_ENST00000538367.1_5'UTR|TRA2A_ENST00000474586.1_5'UTR NM_013293.3 NP_037425.1 Q13595 TRA2A_HUMAN transformer 2 alpha homolog (Drosophila) 20 nuclear mRNA splicing, via spliceosome nucleus nucleotide binding|RNA binding endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1) 10 TCCCGTTGGAGATTTTGACTG 0.433000 17 89 5.3912e-06 5.70465e-06 0.038395 1 0 FAM104A 84923 broad.mit.edu 37 17 71223343 71223343 + Silent SNP A A G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr17:71223343A>G ENST00000405159.3 - 2 346 c.282T>C c.(280-282)agT>agC p.S94S FAM104A_ENST00000583178.1_5'UTR|FAM104A_ENST00000581110.1_Intron|FAM104A_ENST00000403627.3_Silent_p.S94S|FAM104A_ENST00000583024.1_Intron|FAM104A_ENST00000580032.1_5'UTR NM_001098832.1 NP_001092302.1 Q969W3 F104A_HUMAN family with sequence similarity 104, member A 94 Ser-rich. endometrium(1)|kidney(1)|large_intestine(1)|lung(3) 6 LUSC - Lung squamous cell carcinoma(166;0.197) GGTTTCTGCTACTTCTTTTGG 0.408000 20 103 0 0 0.014323 0 0 N4BP2 55728 broad.mit.edu 37 4 40122594 40122594 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr4:40122594G>A ENST00000261435.6 + 9 3279 c.2863G>A c.(2863-2865)Gaa>Aaa p.E955K NM_018177.4 NP_060647.2 Q86UW6 N4BP2_HUMAN NEDD4 binding protein 2 955 cytoplasm ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1) 60 GCTGCTCAGTGAAATGACCTG 0.438000 28 36 0 0 0.034045 0 0 IQCJ-SCHIP1 100505385 broad.mit.edu 37 3 159605682 159605682 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr3:159605682C>T ENST00000337808.6 + 5 1759 c.1182C>T c.(1180-1182)ccC>ccT p.P394P IQCJ-SCHIP1_ENST00000476809.1_Silent_p.P443P|IQCJ-SCHIP1_ENST00000460298.1_Silent_p.P354P|IQCJ-SCHIP1_ENST00000412423.2_Silent_p.P381P|SCHIP1_ENST00000482804.1_Silent_p.P167P|IQCJ-SCHIP1_ENST00000485419.1_Silent_p.P470P|SCHIP1_ENST00000445224.2_Silent_p.P151P|IQCJ-SCHIP1_ENST00000527095.1_Silent_p.P162P NM_001197107.1|NM_014575.3 NP_001184036.1|NP_055390.1 Q9P0W5 SCHI1_HUMAN 394 cytoplasm identical protein binding|protein binding central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(7) 12 AAAAGTCTCCCGTCGCTGATC 0.458000 21 97 0 0 0.014323 0 0 HOGA1 112817 broad.mit.edu 37 10 99371333 99371333 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr10:99371333C>T ENST00000370646.4 + 7 1262 c.901C>T c.(901-903)Ccc>Tcc p.P301S PI4K2A_ENST00000555577.1_Intron|HOGA1_ENST00000370647.4_Missense_Mutation_p.P138S|PI4K2A_ENST00000370649.3_Intron NM_138413.3 NP_612422.2 4-hydroxy-2-oxoglutarate aldolase 1 breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)|skin(1)|stomach(1) 14 CTATGGAGGCCCCTGCCGCGC 0.612000 17 31 0 0 0.033300 0 0 NXF1 10482 broad.mit.edu 37 11 62571396 62571396 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr11:62571396G>A ENST00000531709.2 - 2 196 c.83C>T c.(82-84)cCc>cTc p.P28L NXF1_ENST00000531131.1_Intron|NXF1_ENST00000294172.2_Missense_Mutation_p.P28L|NXF1_ENST00000532297.1_Missense_Mutation_p.P28L|NXF1_ENST00000439713.2_Missense_Mutation_p.P28L NM_001081491.1 NP_001074960.1 Q9UBU9 NXF1_HUMAN nuclear RNA export factor 1 28 Interaction with THOC4. gene expression|interspecies interaction between organisms cytosol|nuclear speck nucleotide binding|protein binding breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 39 CCACCGGAAGGGACCCCGGCC 0.473000 96 183 0 0 0.014410 0 0 F11 2160 broad.mit.edu 37 4 187205256 187205256 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr4:187205256C>T ENST00000264692.4 + 11 1323 c.990C>T c.(988-990)acC>acT p.T330T F11_ENST00000403665.2_Silent_p.T382T P03951 FA11_HUMAN coagulation factor XI 382 Apple 4. blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis extracellular space|plasma membrane heparin binding|serine-type endopeptidase activity NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1) 32 all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202) OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176) Coagulation Factor IX(DB00100) AGTGTACCACCAAAATCAAGC 0.502000 32 27 0 0 0.025465 0 0 DNAH8 1769 broad.mit.edu 37 6 38951989 38951989 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr6:38951989C>T ENST00000359357.3 + 85 12562 c.12308C>T c.(12307-12309)tCa>tTa p.S4103L DNAH8_ENST00000441566.1_Missense_Mutation_p.S4067L dynein, axonemal, heavy chain 8 NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 AAGGGTGTATCATGGAATACG 0.373000 11 45 0 0 0.016723 0 0 CHST15 51363 broad.mit.edu 37 10 125771991 125771991 + Missense_Mutation SNP C C G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr10:125771991C>G ENST00000346248.5 - 7 1995 c.1353G>C c.(1351-1353)agG>agC p.R451S CHST15_ENST00000435907.1_Missense_Mutation_p.R451S NM_001270764.1|NM_015892.3 NP_001257693.1|NP_056976.2 Q7LFX5 CHSTF_HUMAN carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15 451 hexose biosynthetic process Golgi membrane|integral to membrane 3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1) 26 CAACCTGGAGCCTCACCTAGG 0.493000 8 18 0 0 0.038147 0 0 ZNF514 84874 broad.mit.edu 37 2 95815442 95815442 + Missense_Mutation SNP C C A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr2:95815442C>A ENST00000295208.2 - 5 1250 c.788G>T c.(787-789)aGt>aTt p.S263I ZNF514_ENST00000411425.1_Missense_Mutation_p.S263I NM_032788.1 NP_116177.1 Q96K75 ZN514_HUMAN zinc finger protein 514 263 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(6)|urinary_tract(1) 11 CCCACATTCACTGCATTCATA 0.433000 26 115 3.01185e-09 3.24353e-09 0.021523 1 0 TIMELESS 8914 broad.mit.edu 37 12 56815168 56815168 + Silent SNP C C T rs113553695 TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr12:56815168C>T ENST00000229201.4 - 23 2986 c.2832G>A c.(2830-2832)aaG>aaA p.K944K TIMELESS_ENST00000553532.1_Silent_p.K945K|TIMELESS_ENST00000554616.1_Silent_p.K442K NM_003920.3 NP_003911.2 Q9UNS1 TIM_HUMAN timeless circadian clock 945 cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent nuclear chromatin NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1) 49 TCTGCCGTTTCTTGTACAGCT 0.527000 75 66 0 0 0.014410 0 0 PCDHA7 56141 broad.mit.edu 37 5 140215817 140215817 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr5:140215817G>A ENST00000525929.1 + 1 1849 c.1849G>A c.(1849-1851)Ggt>Agt p.G617S PCDHA7_ENST00000378125.3_Missense_Mutation_p.G617S|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron NM_018910.2 NP_061733.1 NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 63 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) GGTGGCGGCCGGTGCGAGCAT 0.642000 28 41 0 0 0.030593 0 0 CNGB3 54714 broad.mit.edu 37 8 87660048 87660048 + Missense_Mutation SNP C C G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr8:87660048C>G ENST00000320005.5 - 8 1018 c.971G>C c.(970-972)aGa>aCa p.R324T NM_019098.4 NP_061971.3 Q9NQW8 CNGB3_HUMAN cyclic nucleotide gated channel beta 3 324 signal transduction|visual perception integral to membrane cGMP binding NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 80 CCTATTTGCTCTAAACATTGG 0.294000 26 114 0 0 0.024334 0 0 IFNK 56832 broad.mit.edu 37 9 27524569 27524569 + Missense_Mutation SNP A A G TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr9:27524569A>G ENST00000276943.2 + 1 258 c.235A>G c.(235-237)Atg>Gtg p.M79V MOB3B_ENST00000262244.5_Intron NM_020124.2 NP_064509.2 Q9P0W0 IFNK_HUMAN interferon, kappa 79 cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus extracellular space cytokine activity|interferon-alpha/beta receptor binding large_intestine(1) 1 all_neural(11;7.9e-11) LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158) CACCCAACCTATGAAGAGGGA 0.423000 32 82 0 0 0.015359 0 0 TRPM3 80036 broad.mit.edu 37 9 73151427 73151427 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr9:73151427G>A ENST00000377110.2 - 25 4809 c.4566C>T c.(4564-4566)agC>agT p.S1522S TRPM3_ENST00000396285.1_Silent_p.S1381S|TRPM3_ENST00000377106.1_Silent_p.S1394S|TRPM3_ENST00000423814.3_Silent_p.S1549S|TRPM3_ENST00000357533.2_Silent_p.S1526S|TRPM3_ENST00000377105.1_Silent_p.S1381S|TRPM3_ENST00000408909.2_Silent_p.S1381S|TRPM3_ENST00000358082.3_Silent_p.S1384S|TRPM3_ENST00000396292.4_Silent_p.S1394S|TRPM3_ENST00000396280.5_Silent_p.S1371S|TRPM3_ENST00000360823.2_Silent_p.S1384S|TRPM3_ENST00000377111.2_Intron NM_001007471.2 NP_001007472.2 Q9HCF6 TRPM3_HUMAN transient receptor potential cation channel, subfamily M, member 3 1547 integral to membrane calcium channel activity NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1) 95 AAAACATAAAGCTATGAGATT 0.458000 59 30 0 0 0.014410 0 0 NSUN4 387338 broad.mit.edu 37 1 46810800 46810800 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr1:46810800C>T ENST00000474844.1 + 2 1071 c.421C>T c.(421-423)Cgc>Tgc p.R141C NSUN4_ENST00000536062.1_Missense_Mutation_p.R92C|NSUN4_ENST00000537428.1_Missense_Mutation_p.R92C|NSUN4_ENST00000498008.1_3'UTR NM_199044.3 NP_950245.2 Q96CB9 NSUN4_HUMAN NOP2/Sun domain family, member 4 141 methyltransferase activity endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1) 8 Acute lymphoblastic leukemia(166;0.155) GGATATCAGTCGCTTCCCTCC 0.567000 16 55 0 0 0.043863 0 0 CLSTN3 9746 broad.mit.edu 37 12 7302138 7302138 + Silent SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr12:7302138G>T ENST00000537408.1 + 13 2668 c.2130G>T c.(2128-2130)tcG>tcT p.S710S CLSTN3_ENST00000266546.6_Silent_p.S698S Q9BQT9 CSTN3_HUMAN calsyntenin 3 698 homophilic cell adhesion endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane calcium ion binding NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1) 33 CACGCATGTCGGATGAGATTG 0.577000 36 54 9.9191e-30 1.17992e-29 0.033182 1 0 PXDNL 137902 broad.mit.edu 37 8 52321226 52321226 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr8:52321226G>A ENST00000356297.4 - 17 3058 c.2958C>T c.(2956-2958)tcC>tcT p.S986S PXDNL_ENST00000543296.1_Silent_p.S986S NM_144651.4 NP_653252.3 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 986 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) GGTTCAGGGCGGACAGCTCCG 0.642000 4 5 0 0 0.009096 0 0 PLEKHO1 51177 broad.mit.edu 37 1 150128284 150128284 + Nonsense_Mutation SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr1:150128284G>T ENST00000369124.4 + 3 480 c.202G>T c.(202-204)Gag>Tag p.E68* PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000025469.6_Nonsense_Mutation_p.E68*|PLEKHO1_ENST00000479194.1_3'UTR NM_016274.4 NP_057358.2 Q53GL0 PKHO1_HUMAN pleckstrin homology domain containing, family O member 1 68 PH. cytoplasm|nucleus|plasma membrane breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2) 22 Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171) LUSC - Lung squamous cell carcinoma(543;0.171) AAATATTCAAGAGGTATTTGA 0.438000 9 236 0.000673444 0.000696402 0.008291 1 0 TMEM194A 23306 broad.mit.edu 37 12 57454716 57454716 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr12:57454716C>T ENST00000300128.4 - 8 1016 c.993G>A c.(991-993)aaG>aaA p.K331K TMEM194A_ENST00000379391.3_Silent_p.K258K NM_001130963.1 NP_001124435.1 O14524 T194A_HUMAN transmembrane protein 194A 331 integral to membrane endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 12 TTTCTGCTCCCTTACACACCT 0.438000 29 76 0 0 0.030593 0 0 SEPT3 55964 broad.mit.edu 37 22 42383247 42383247 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr22:42383247C>T ENST00000396425.3 + 4 500 c.369C>T c.(367-369)gtC>gtT p.V123V SEPT3_ENST00000396426.3_Silent_p.V123V|SEPT3_ENST00000291236.11_Silent_p.V59V|SEPT3_ENST00000406029.1_Silent_p.V59V|SEPT3_ENST00000328414.8_Intron NM_019106.5 NP_061979.3 Q9UH03 SEPT3_HUMAN septin 3 123 cell cycle|cytokinesis cell junction|septin complex GTP binding breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1) 17 AGCTGACCGTCATCGACACCC 0.493000 22 54 0 0 0.018920 0 0 C10orf12 26148 broad.mit.edu 37 10 98742657 98742657 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr10:98742657G>A ENST00000286067.2 + 1 1617 c.1510G>A c.(1510-1512)Gat>Aat p.D504N NM_015652.2 NP_056467.2 Q8N655 CJ012_HUMAN chromosome 10 open reading frame 12 504 NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4) 45 Colorectal(252;0.172) Epithelial(162;6.35e-09)|all cancers(201;3.21e-07) TGAGGCCTCTGATAGGTGCCT 0.398000 32 62 0 0 0.045705 0 0 CDH20 28316 broad.mit.edu 37 18 59166671 59166671 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr18:59166671G>A ENST00000262717.4 + 3 897 c.499G>A c.(499-501)Gac>Aac p.D167N CDH20_ENST00000538374.1_Missense_Mutation_p.D167N|CDH20_ENST00000536675.2_Missense_Mutation_p.D167N Q9HBT6 CAD20_HUMAN cadherin 20, type 2 167 Cadherin 2. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding p.D167N(1) breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3) 61 Colorectal(73;0.186) CAAGTTCCTGGACGGACCTTA 0.502000 14 42 0 0 0.028581 0 0 FCGBP 8857 broad.mit.edu 37 19 40408592 40408592 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr19:40408592C>T ENST00000221347.6 - 8 4254 c.4247G>A c.(4246-4248)gGc>gAc p.G1416D NM_003890.2 NP_003881.2 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein 1416 VWFD 3. extracellular region protein binding NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3) 165 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) CCAGGAGTTGCCGAACTCATT 0.637000 70 35 0 0 0.014410 0 0 NOTCH2 4853 broad.mit.edu 37 1 120467945 120467945 + Silent SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr1:120467945C>T ENST00000256646.2 - 25 4713 c.4494G>A c.(4492-4494)ggG>ggA p.G1498G NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 1498 Negative regulatory region (NRR). anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) TCTTGCTGTTCCCCTGGCATT 0.498000 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 27 466 0 0 0.045705 0 0 C1S 716 broad.mit.edu 37 12 7169971 7169971 + Silent SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr12:7169971G>A ENST00000406697.1 + 6 826 c.198G>A c.(196-198)gcG>gcA p.A66A C1S_ENST00000328916.3_Silent_p.A66A|C1S_ENST00000402681.3_Intron|C1S_ENST00000360817.5_Silent_p.A66A P09871 C1S_HUMAN complement component 1, s subcomponent 66 CUB 1. complement activation, classical pathway|innate immune response|proteolysis extracellular region calcium ion binding|serine-type endopeptidase activity breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 33 Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072) AGAACTGTGCGTATGACTCAG 0.468000 37 151 0 0 0.023175 0 0 PCDHB7 56129 broad.mit.edu 37 5 140554402 140554402 + Silent SNP G G T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr5:140554402G>T ENST00000231137.3 + 1 2160 c.1986G>T c.(1984-1986)ctG>ctT p.L662L NM_018940.2 NP_061763.1 Q9Y5E2 PCDB7_HUMAN 662 Cadherin 6. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding 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) ACGTGCTCCTGGTGGACGGCT 0.701000 15 54 1.33834e-09 1.44986e-09 0.043863 1 0 AKAP6 9472 broad.mit.edu 37 14 33293503 33293503 + Missense_Mutation SNP G G A TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr14:33293503G>A ENST00000280979.4 + 13 6654 c.6484G>A c.(6484-6486)Ggt>Agt p.G2162S AKAP6_ENST00000557272.1_Intron NM_004274.4 NP_004265.3 Q13023 AKAP6_HUMAN A kinase (PRKA) anchor protein 6 2162 protein targeting calcium channel complex|nuclear membrane|sarcoplasmic reticulum protein kinase A binding|receptor binding NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2) 122 Breast(36;0.0388)|Prostate(35;0.15) LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116) GBM - Glioblastoma multiforme(265;0.019) CTGTGTTGAGGGTGACTCTGA 0.478000 30 17 0 0 0.030593 0 0 BARD1 580 broad.mit.edu 37 2 215645436 215645436 + Missense_Mutation SNP T T C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr2:215645436T>C ENST00000260947.4 - 4 1296 c.1162A>G c.(1162-1164)Att>Gtt p.I388V BARD1_ENST00000449967.2_Missense_Mutation_p.I244V NM_000465.2 NP_000456.2 Q99728 BARD1_HUMAN BRCA1 associated RING domain 1 388 cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1) 35 Renal(323;0.0243) Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011) GAAAGACTAATGAATTCATCG 0.423000 Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome 6 114 0 0 0.021553 0 0 OR10A7 121364 broad.mit.edu 37 12 55615608 55615608 + Missense_Mutation SNP C C T TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr12:55615608C>T ENST00000326258.1 + 1 800 c.800C>T c.(799-801)tCc>tTc p.S267F NM_001005280.1 NP_001005280.1 Q8NGE5 O10A7_HUMAN olfactory receptor, family 10, subfamily A, member 7 267 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3) 24 TCAAACCAGTCCCCTGAGAGC 0.507000 15 76 0 0 0.028581 0 0 ZNF800 168850 broad.mit.edu 37 7 127014179 127014179 + Nonsense_Mutation SNP G G C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr7:127014179G>C ENST00000393313.1 - 5 1802 c.1211C>G c.(1210-1212)tCa>tGa p.S404* ZNF800_ENST00000265827.3_Nonsense_Mutation_p.S404*|ZNF800_ENST00000393312.1_Nonsense_Mutation_p.S404* Q2TB10 ZN800_HUMAN zinc finger protein 800 404 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1) 32 TTTTATTTCTGAACTGTTGGC 0.348000 30 64 0 0 0.034045 0 0 KCNA3 3738 broad.mit.edu 37 1 111216794 111216794 + Frame_Shift_Del DEL C C - TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr1:111216794delC ENST00000369769.2 - 1 861 c.638delG c.(637-639)ccfs p.R214fs NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 214 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GAAGTCGCGGCGGGGCAAGGG 0.682 38 30 --- --- --- --- INTS4P2 644619 broad.mit.edu 37 7 65173370 65173375 + RNA DEL TCTTTA TCTTTA - TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr7:65173370_65173375delTCTTTA ENST00000430126.2 + 0 1389 AATTATCTTTTCTTTATCGATTATGG 0.350 9 38 --- --- --- --- LURAP1L 286343 broad.mit.edu 37 9 12775861 12775862 + In_Frame_Ins INS - - GGCGGCGGC rs3833707 by1000genomes TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr9:12775861_12775862insGGCGGCGGC ENST00000319264.3 + 1 842_843 c.147_148insGGCGGCGGC c.(145-150)gggcgg>ggGGCGGCGGCgcgg p.49_50GR>GAAAR RP11-3L8.3_ENST00000417638.1_RNA|LURAP1L_ENST00000489107.1_3'UTR NM_203403.1 NP_981948.1 Q8IV03 CI150_HUMAN leucine rich adaptor protein 1-like 49 Gly-rich. Missing. p.G49_G50insGGG(2)|p.G50_G52delGGG(1) gcggtggtggtggcggcggcgg 0.688 6 3 --- --- --- --- POLA2 23649 broad.mit.edu 37 11 65064593 65064608 + Frame_Shift_Del DEL TGTCCTCGGCTGTGTC TGTCCTCGGCTGTGTC - TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr11:65064593_65064608delTGTCCTCGGCTGTGTC ENST00000265465.3 + 18 2181_2196 c.1650_1665delTGTCCTCGGCTGTGTC c.(1648-1665)gafs p.DVLGCV550fs POLA2_ENST00000534785.1_3'UTR NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 550 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) CTCCCCAGGATGTCCTCGGCTGTGTCTGTGTGAACC 0.602 14 103 --- --- --- --- KCNH3 23416 broad.mit.edu 37 12 49950962 49950966 + Splice_Site DEL ACAGA ACAGA - TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr12:49950962_49950966delACAGA ENST00000257981.6 + 14 2835_2836 c.2575_splice c.e14-1 p.859_splice NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 859 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 CCTACTACCCACAGAGAGCGGCCTG 0.595 16 48 --- --- --- --- SNAPC1 6617 broad.mit.edu 37 14 62233670 62233672 + In_Frame_Del DEL CCA CCA - TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr14:62233670_62233672delCCA ENST00000216294.4 + 2 309_311 c.205_207delCCA c.(205-207)del p.P69del RP11-618G20.1_ENST00000555937.1_RNA NM_003082.3 NP_003073.1 Q16533 SNPC1_HUMAN small nuclear RNA activating complex, polypeptide 1, 43kDa 69 SNAPC3-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186) TTTTTTACCTCCATACACCTTCC 0.330 18 33 --- --- --- --- EFTUD1 79631 broad.mit.edu 37 15 82456255 82456259 + Frame_Shift_Del DEL AAATG AAATG - TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr15:82456255_82456259delAAATG ENST00000268206.7 - 16 1985_1989 c.1817_1821delCATTT c.(1816-1821)cfs p.PF606fs EFTUD1_ENST00000359445.3_Frame_Shift_Del_p.PF555fs NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 606 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 TGAGTGGTATAAATGGTGGGCAGGA 0.400 14 39 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579336 7579336 + Frame_Shift_Del DEL C C - TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr17:7579336delC ENST00000420246.2 - 4 483 c.351delG c.(349-351)ggfs p.G117fs TP53_ENST00000359597.4_Frame_Shift_Del_p.G117fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.G117fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.G117fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.G117fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.G117fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 117 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.T118fs*6(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.T118fs*5(1)|p.T118fs*31(1)|p.L114fs*30(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACTTGGCTGTCCCAGAATGCA 0.577 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 52 25 --- --- --- --- KRTAP4-1 85285 broad.mit.edu 37 17 39340854 39340910 + In_Frame_Del DEL GGCAGCAGCTGGACACACCACAGCTGGGGCGGCAGGTGGTCTGACAACAGACTGGGT GGCAGCAGCTGGACACACCACAGCTGGGGCGGCAGGTGGTCTGACAACAGACTGGGT - rs74712790 by1000genomes TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr17:39340854_39340910delGGCAGCAGCTGGACACACCACAGCTGGGGCGGCAGGTGGTCTGACAACAGACTGGGT ENST00000398472.1 - 1 684_740 c.197_253delACCCAGTCTGTTGTCAGACCACCTGCCGCCCCAGCTGTGGTGTGTCCAGCTGCTGCC c.(196-255)cgc>c p.HPVCCQTTCRPSCGVSSCCR66del Q9BYQ7 KRA41_HUMAN keratin associated protein 4-1 66 18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL]. H -> R (in dbSNP:rs2320231). keratin filament kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1) 5 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000449) CAGAGTGGGCGGCAGCAGCTGGACACACCACAGCTGGGGCGGCAGGTGGTCTGACAACAGACTGGGTGGCAGCAGCT 0.638 7 12 --- --- --- --- SS18 6760 broad.mit.edu 37 18 23619368 23619369 + Frame_Shift_Ins INS - - C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr18:23619368_23619369insC ENST00000415083.2 - 6 714_715 c.659_660insG c.(658-660)gggfs p.G220fs SS18_ENST00000542743.1_Frame_Shift_Ins_p.G168fs|SS18_ENST00000542420.2_Frame_Shift_Ins_p.G197fs|SS18_ENST00000539849.1_Frame_Shift_Ins_p.G138fs|SS18_ENST00000545952.1_Frame_Shift_Ins_p.G168fs|SS18_ENST00000269137.7_Frame_Shift_Ins_p.G220fs NM_001007559.1|NM_005637.2 NP_001007560.1|NP_005628.2 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 220 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12) endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1) 19 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) GCTGTCCGCCTCCCTGTGGCAT 0.426 T """SSX1, SSX2""" synovial sarcoma 79 42 --- --- --- --- MN1 4330 broad.mit.edu 37 22 28196406 28196418 + Frame_Shift_Del DEL CCCAGTGTGGAAA CCCAGTGTGGAAA - TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr22:28196406_28196418delCCCAGTGTGGAAA ENST00000302326.4 - 1 1068_1080 c.114_126delTTTCCACACTGGG c.(112-126)gcfs p.AFHTG38fs NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 38 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 CAGGGGGCCCCCCAGTGTGGAAAGCCGGGGCCT 0.634 T ETV6 """AML, meningioma""" 12 74 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36698676 36698678 + In_Frame_Del DEL GGA GGA - TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-10A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e 8e46f3c1-520c-4518-a734-4579dfcd97a3 g.chr22:36698676_36698678delGGA ENST00000216181.5 - 20 2665_2667 c.2435_2437delTCC c.(2434-2439)cag>c p.LQ812del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 812 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CAGTTCCGCTGGAGGACCTTCAT 0.611 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 31 48 --- --- --- --- KCNA3 3738 broad.mit.edu 37 1 111216794 111216794 + Frame_Shift_Del DEL C C - TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr1:111216794delC ENST00000369769.2 - 1 861 c.638delG c.(637-639)ccfs p.R214fs NM_002232.3 NP_002223.3 P22001 KCNA3_HUMAN potassium voltage-gated channel, shaker-related subfamily, member 3 214 voltage-gated potassium channel complex delayed rectifier potassium channel activity endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1) 38 all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398) Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133) GAAGTCGCGGCGGGGCAAGGG 0.682 38 30 --- --- --- --- FAT1 2195 broad.mit.edu 37 4 187630671 187630692 + Frame_Shift_Del DEL TTTCCTCCTTTGGTCCTTATTC TTTCCTCCTTTGGTCCTTATTC - TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr4:187630671_187630692delTTTCCTCCTTTGGTCCTTATTC ENST00000441802.2 - 2 499_520 c.290_311delGAATAAGGACCAAAGGAGGAAA c.(289-312)atfs p.RIRTKGGN97fs NM_005245.3 NP_005236.2 Q14517 FAT1_HUMAN FAT atypical cadherin 1 97 Cadherin 1. actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm calcium ion binding|protein binding NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4) 228 AATAGCTGTATTTCCTCCTTTGGTCCTTATTCTTAGAAAGCA 0.405 HNSCC(5;0.00058) 10 26 --- --- --- --- INTS4P2 644619 broad.mit.edu 37 7 65173370 65173375 + RNA DEL TCTTTA TCTTTA - TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr7:65173370_65173375delTCTTTA ENST00000430126.2 + 0 1389 AATTATCTTTTCTTTATCGATTATGG 0.350 9 38 --- --- --- --- POLA2 23649 broad.mit.edu 37 11 65064593 65064608 + Frame_Shift_Del DEL TGTCCTCGGCTGTGTC TGTCCTCGGCTGTGTC - TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr11:65064593_65064608delTGTCCTCGGCTGTGTC ENST00000265465.3 + 18 2181_2196 c.1650_1665delTGTCCTCGGCTGTGTC c.(1648-1665)gafs p.DVLGCV550fs POLA2_ENST00000534785.1_3'UTR NM_002689.2 NP_002680.2 Q14181 DPOA2_HUMAN polymerase (DNA directed), alpha 2, accessory subunit 550 DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication nucleoplasm DNA binding endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1) 11 Dacarbazine(DB00851) CTCCCCAGGATGTCCTCGGCTGTGTCTGTGTGAACC 0.602 14 103 --- --- --- --- KCNH3 23416 broad.mit.edu 37 12 49950962 49950966 + Splice_Site DEL ACAGA ACAGA - TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr12:49950962_49950966delACAGA ENST00000257981.6 + 14 2835_2836 c.2575_splice c.e14-1 p.859_splice NM_012284.1 NP_036416.1 Q9ULD8 KCNH3_HUMAN potassium voltage-gated channel, subfamily H (eag-related), member 3 859 regulation of transcription, DNA-dependent integral to membrane two-component sensor activity|voltage-gated potassium channel activity NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 36 CCTACTACCCACAGAGAGCGGCCTG 0.595 16 48 --- --- --- --- TPTE2P6 374491 broad.mit.edu 37 13 25157747 25157748 + RNA INS - - T rs144668552 by1000genomes TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr13:25157747_25157748insT ENST00000453498.1 + 0 554 AAAATGGGAGGTTTTTTTAGGG 0.411 4 7 --- --- --- --- SNAPC1 6617 broad.mit.edu 37 14 62233670 62233672 + In_Frame_Del DEL CCA CCA - TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr14:62233670_62233672delCCA ENST00000216294.4 + 2 309_311 c.205_207delCCA c.(205-207)del p.P69del RP11-618G20.1_ENST00000555937.1_RNA NM_003082.3 NP_003073.1 Q16533 SNPC1_HUMAN small nuclear RNA activating complex, polypeptide 1, 43kDa 69 SNAPC3-binding. regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter nucleoplasm DNA binding endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1) 13 OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186) TTTTTTACCTCCATACACCTTCC 0.330 18 33 --- --- --- --- EFTUD1 79631 broad.mit.edu 37 15 82456255 82456259 + Frame_Shift_Del DEL AAATG AAATG - TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr15:82456255_82456259delAAATG ENST00000268206.7 - 16 1985_1989 c.1817_1821delCATTT c.(1816-1821)cfs p.PF606fs EFTUD1_ENST00000359445.3_Frame_Shift_Del_p.PF555fs NM_024580.5 NP_078856.4 Q7Z2Z2 ETUD1_HUMAN elongation factor Tu GTP binding domain containing 1 606 mature ribosome assembly GTP binding|GTPase activity|ribosome binding|translation elongation factor activity cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 32 TGAGTGGTATAAATGGTGGGCAGGA 0.400 14 39 --- --- --- --- TP53 7157 broad.mit.edu 37 17 7579336 7579336 + Frame_Shift_Del DEL C C - TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr17:7579336delC ENST00000420246.2 - 4 483 c.351delG c.(349-351)ggfs p.G117fs TP53_ENST00000359597.4_Frame_Shift_Del_p.G117fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.G117fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.G117fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.G117fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.G117fs NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 117 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.T118fs*6(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.T118fs*5(1)|p.T118fs*31(1)|p.L114fs*30(1) NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79) 24185 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) ACTTGGCTGTCCCAGAATGCA 0.577 111 """Mis, N, F""" """breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types""" """breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types""" Other conserved DNA damage response genes Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) 52 25 --- --- --- --- SS18 6760 broad.mit.edu 37 18 23619368 23619369 + Frame_Shift_Ins INS - - C TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr18:23619368_23619369insC ENST00000415083.2 - 6 714_715 c.659_660insG c.(658-660)gggfs p.G220fs SS18_ENST00000269137.7_Frame_Shift_Ins_p.G220fs|SS18_ENST00000542743.1_Frame_Shift_Ins_p.G168fs|SS18_ENST00000542420.2_Frame_Shift_Ins_p.G197fs|SS18_ENST00000545952.1_Frame_Shift_Ins_p.G168fs|SS18_ENST00000539849.1_Frame_Shift_Ins_p.G138fs NM_001007559.1|NM_005637.2 NP_001007560.1|NP_005628.2 Q15532 SSXT_HUMAN synovial sarcoma translocation, chromosome 18 220 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent nucleus ligand-dependent nuclear receptor transcription coactivator activity|protein binding SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12) endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1) 19 all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124) GCTGTCCGCCTCCCTGTGGCAT 0.426 T """SSX1, SSX2""" synovial sarcoma 79 42 --- --- --- --- MN1 4330 broad.mit.edu 37 22 28196406 28196418 + Frame_Shift_Del DEL CCCAGTGTGGAAA CCCAGTGTGGAAA - TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr22:28196406_28196418delCCCAGTGTGGAAA ENST00000302326.4 - 1 1068_1080 c.114_126delTTTCCACACTGGG c.(112-126)gcfs p.AFHTG38fs NM_002430.2 NP_002421.3 Q10571 MN1_HUMAN meningioma (disrupted in balanced translocation) 1 38 binding NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1) 45 CAGGGGGCCCCCCAGTGTGGAAAGCCGGGGCCT 0.634 T ETV6 """AML, meningioma""" 12 74 --- --- --- --- MYH9 4627 broad.mit.edu 37 22 36698676 36698678 + In_Frame_Del DEL GGA GGA - TCGA-CV-7437-01A-21D-2129-08 TCGA-CV-7437-11A-01D-2129-08 Untested Somatic Phase_I WXS none Illumina GAIIx 53413980-80cc-4c73-8bb6-31a01d6df86e d40bb6dd-d5a2-466e-b9fe-03b553c19814 g.chr22:36698676_36698678delGGA ENST00000216181.5 - 20 2665_2667 c.2435_2437delTCC c.(2434-2439)cag>c p.LQ812del NM_002473.4 NP_002464.1 P35579 MYH9_HUMAN myosin, heavy chain 9, non-muscle 812 actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3) 86 CAGTTCCGCTGGAGGACCTTCAT 0.611 T ALK ALCL """Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome""" Hereditary Macrothrombocytopenia, MYH9-associated 31 48 --- --- --- ---