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 CLEC14A 161198 broad.mit.edu 37 14 38724734 38724734 + Missense_Mutation SNP C C A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr14:38724734C>A ENST00000342213.2 - 1 840 c.494G>T c.(493-495)cGc>cTc p.R165L NM_175060.2 NP_778230.1 Q86T13 CLC14_HUMAN C-type lectin domain family 14, member A 165 C-type lectin. integral to membrane sugar binding p.R165L(1) breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 33 Hepatocellular(127;0.213)|Esophageal squamous(585;0.22) Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187) GBM - Glioblastoma multiforme(112;0.00439) GCCGTTGGCGCGCAGGTGGCA 0.682000 16 52 5.35047e-06 6.50288e-06 0.083992 1 0 ZNF423 23090 broad.mit.edu 37 16 49669876 49669876 + Missense_Mutation SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr16:49669876G>A ENST00000561648.1 - 4 3240 c.3187C>T c.(3187-3189)Ctc>Ttc p.L1063F ZNF423_ENST00000562871.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000567169.1_Missense_Mutation_p.L946F|ZNF423_ENST00000563137.2_Missense_Mutation_p.L1003F|ZNF423_ENST00000562520.1_Missense_Mutation_p.L1003F|ZNF423_ENST00000262383.2_Missense_Mutation_p.L1063F|ZNF423_ENST00000535559.1_Missense_Mutation_p.L946F NM_001271620.1 NP_001258549.1 Q2M1K9 ZN423_HUMAN zinc finger protein 423 1063 cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus zinc ion binding p.L1063F(3) breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2) 89 all_cancers(37;0.0155) CACTTGTAGAGCTTCTGCAGC 0.627000 3 28 0 0 0.009096 0 0 PRPS1L1 221823 broad.mit.edu 37 7 18067240 18067240 + Missense_Mutation SNP C C T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr7:18067240C>T ENST00000506618.2 - 1 246 c.166G>A c.(166-168)Gtt>Att p.V56I NM_175886.2 NP_787082.1 P21108 PRPS3_HUMAN phosphoribosyl pyrophosphate synthetase 1-like 1 56 nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity p.V56I(2) endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3) 18 Lung NSC(10;0.0385)|all_lung(11;0.0736) CCACTCTGAACGATGTAGACA 0.488000 9 533 0 0 0.058154 0 0 TFAP2D 83741 broad.mit.edu 37 6 50740431 50740431 + Missense_Mutation SNP A A G TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr6:50740431A>G ENST00000008391.3 + 8 1441 c.1213A>G c.(1213-1215)Atg>Gtg p.M405V NM_172238.3 NP_758438.2 Q7Z6R9 AP2D_HUMAN transcription factor AP-2 delta (activating enhancer binding protein 2 delta) 405 H-S-H (helix-span-helix), dimerization. DNA binding|sequence-specific DNA binding transcription factor activity p.M405V(1) NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1) 60 Lung NSC(77;0.0334) TCTCAGTGAAATGCTGAACTA 0.478000 33 94 0 0 0.050027 0 0 GRM3 0 broad.mit.edu 37 7 86415634 86415634 + Missense_Mutation SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr7:86415634G>A ENST00000361669.2 + 3 1625 c.526G>A c.(526-528)Gcc>Acc p.A176T GRM3_ENST00000546348.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.A48T|AC005009.2_ENST00000418031.1_RNA|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000439827.1_Missense_Mutation_p.A176T|GRM3_ENST00000394720.2_Missense_Mutation_p.A174T NM_000840.2 NP_000831.2 Q14832 GRM3_HUMAN glutamate receptor, metabotropic 3 176 synaptic transmission integral to plasma membrane p.A176T(2) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ATCCACCAGCGCCAAACTCAG 0.552000 6 353 0 0 0.021553 0 0 NUCB2 4925 broad.mit.edu 37 11 17332484 17332484 + Missense_Mutation SNP A A C TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr11:17332484A>C ENST00000529010.1 + 7 815 c.596A>C c.(595-597)aAg>aCg p.K199T NUCB2_ENST00000323688.6_Missense_Mutation_p.K199T|NUCB2_ENST00000458064.2_Missense_Mutation_p.K199T NM_005013.2 NP_005004.1 P80303 NUCB2_HUMAN nucleobindin 2 199 cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane calcium ion binding|DNA binding p.K199T(1) kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 14 AATGAAGAAAAGAGAAAAGAA 0.303000 6 299 0 0 0.021553 0 0 CD226 10666 broad.mit.edu 37 18 67614065 67614065 + Missense_Mutation SNP C C G TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr18:67614065C>G ENST00000280200.4 - 3 555 c.287G>C c.(286-288)cGg>cCg p.R96P CD226_ENST00000581982.1_Intron|CD226_ENST00000577287.1_Intron|CD226_ENST00000582621.1_Missense_Mutation_p.R96P NM_006566.2 NP_006557.2 Q15762 CD226_HUMAN CD226 molecule 96 Ig-like C2-type 1. cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target cell surface|integral to plasma membrane|membrane raft cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity p.R96P(1)|p.R96L(1) breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1) 24 Esophageal squamous(42;0.129) AGAGGCATTCCGAAAGAAAAG 0.448000 52 108 0 0 0.139131 0 0 MAGEA6 4105 broad.mit.edu 37 X 151869728 151869728 + Missense_Mutation SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chrX:151869728G>A ENST00000329342.5 + 3 643 c.418G>A c.(418-420)Gtc>Atc p.V140I NM_005363.2 NP_005354.1 P43360 MAGA6_HUMAN melanoma antigen family A, 6 140 MAGE. protein binding p.V140I(2) breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1) 28 Acute lymphoblastic leukemia(192;6.56e-05) GGGGAGTGTCGTCGGAAATTG 0.527000 4 150 0 0 0.014758 0 0 TBC1D2 55357 broad.mit.edu 37 9 100995790 100995790 + Missense_Mutation SNP C C T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr9:100995790C>T ENST00000375066.5 - 4 780 c.689G>A c.(688-690)gGa>gAa p.G230E TBC1D2_ENST00000342112.5_Missense_Mutation_p.G12E|TBC1D2_ENST00000375064.1_Missense_Mutation_p.G230E NM_018421.3 NP_060891.3 Q9BYX2 TBD2A_HUMAN TBC1 domain family, member 2 230 cell junction|cytoplasmic membrane-bounded vesicle|nucleus Rab GTPase activator activity p.G230E(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 24 Myeloproliferative disorder(762;0.0255) OV - Ovarian serous cystadenocarcinoma(323;2.55e-37) ATGGCCTGTTCCCTGGGCCTG 0.587000 24 245 0 0 0.108266 0 0 AKAP9 10142 broad.mit.edu 37 7 91631337 91631337 + Silent SNP A A G TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr7:91631337A>G ENST00000359028.2 + 9 2367 c.2142A>G c.(2140-2142)ctA>ctG p.L714L AKAP9_ENST00000356239.3_Silent_p.L702L|AKAP9_ENST00000358100.2_Silent_p.L714L Q99996 AKAP9_HUMAN A kinase (PRKA) anchor protein 9 714 Glu-rich. G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport centrosome|cytosol|Golgi apparatus receptor binding p.L714L(1)|p.L702L(1) NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2) 155 all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249) STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225) TTTCAAAGCTAAAAGATTTAC 0.289000 T BRAF papillary thyroid 3 101 0 0 0.115264 0 0 MGAM 8972 broad.mit.edu 37 7 141727465 141727465 + Missense_Mutation SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr7:141727465G>A ENST00000475668.2 + 10 1205 c.1151G>A c.(1150-1152)cGt>cAt p.R384H MGAM_ENST00000549489.2_Missense_Mutation_p.R384H O43451 MGA_HUMAN maltase-glucoamylase (alpha-glucosidase) 384 Maltase. polysaccharide digestion|starch catabolic process apical plasma membrane|integral to membrane carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity p.R384H(4) cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2) 13 Melanoma(164;0.0272) Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878) CACCTCAGTCGTTACGAATAT 0.453000 8 81 0 0 0.047766 0 0 LAMB4 22798 broad.mit.edu 37 7 107674715 107674715 + Missense_Mutation SNP C C T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr7:107674715C>T ENST00000388781.3 - 31 4839 c.4756G>A c.(4756-4758)Gca>Aca p.A1586T LAMB4_ENST00000388780.3_Missense_Mutation_p.A1586T|LAMB4_ENST00000205386.4_Missense_Mutation_p.A1586T|LAMB4_ENST00000483484.1_5'UTR NM_007356.2 NP_031382.2 A4D0S4 LAMB4_HUMAN laminin, beta 4 1586 Domain I. cell adhesion basement membrane p.A1586T(1) NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4) 97 GTAGAGTTTGCCCGTCCTTGA 0.333000 6 295 0 0 0.021553 0 0 CNNM4 26504 broad.mit.edu 37 2 97464910 97464910 + Missense_Mutation SNP C C A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr2:97464910C>A ENST00000377075.2 + 4 1896 c.1798C>A c.(1798-1800)Cat>Aat p.H600N CNNM4_ENST00000496186.1_3'UTR|CNNM4_ENST00000540067.1_Missense_Mutation_p.H87N NM_020184.3 NP_064569.3 Q6P4Q7 CNNM4_HUMAN cyclin M4 600 biomineral tissue development|ion transport|response to stimulus|visual perception integral to membrane|plasma membrane p.H600N(1) breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2) 20 CTACGCCCGCCATTACCTGTA 0.567000 9 94 0.0477658 0.0509932 0.047766 1 0 MAN1A1 4121 broad.mit.edu 37 6 119509656 119509656 + Missense_Mutation SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr6:119509656G>A ENST00000368468.3 - 11 2074 c.1633C>T c.(1633-1635)Cgg>Tgg p.R545W NM_005907.3 NP_005898.2 P33908 MA1A1_HUMAN mannosidase, alpha, class 1A, member 1 545 post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity p.R545W(1) central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) ACTTCTGGCCGTAAGATGTAG 0.413000 6 342 0 0 0.021553 0 0 KIAA1551 55196 broad.mit.edu 37 12 32135028 32135028 + Nonsense_Mutation SNP C C A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr12:32135028C>A ENST00000312561.4 + 4 1553 c.1139C>A c.(1138-1140)tCa>tAa p.S380* KIAA1551_ENST00000535596.1_Intron NM_018169.3 NP_060639.3 KIAA1551 p.S380*(1) AATCCAACTTCAAATCAAGTA 0.348000 5 212 0.0293803 0.0317952 0.029380 1 0 SIGLEC1 6614 broad.mit.edu 37 20 3678583 3678583 + Missense_Mutation SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr20:3678583G>A ENST00000344754.4 - 8 1983 c.1984C>T c.(1984-1986)Cgc>Tgc p.R662C SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R662C NM_023068.3 NP_075556.1 Q9BZZ2 SN_HUMAN sialic acid binding Ig-like lectin 1, sialoadhesin 662 Ig-like C2-type 6. cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response extracellular region|integral to membrane|plasma membrane sugar binding p.R662C(1) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1) 70 ACCTTCATGCGTGGGGAACAG 0.627000 9 97 0 0 0.069234 0 0 LGSN 51557 broad.mit.edu 37 6 63990299 63990299 + Missense_Mutation SNP T T C TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr6:63990299T>C ENST00000370657.4 - 4 1190 c.1157A>G c.(1156-1158)tAc>tGc p.Y386C LGSN_ENST00000370658.5_3'UTR Q5TDP6 LGSN_HUMAN lengsin, lens protein with glutamine synthetase domain 386 glutamine biosynthetic process glutamate-ammonia ligase activity p.Y386C(2) NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 L-Glutamic Acid(DB00142) GTTGTCATTGTATCCCCATGT 0.468000 132 299 0 0 0.139131 0 0 FRAS1 80144 broad.mit.edu 37 4 79458218 79458218 + Missense_Mutation SNP T T A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr4:79458218T>A ENST00000264895.6 + 72 11602 c.11162T>A c.(11161-11163)cTg>cAg p.L3721Q NM_025074.6 NP_079350.5 Q86XX4 FRAS1_HUMAN Fraser syndrome 1 3716 cell communication integral to membrane|plasma membrane metal ion binding p.L3721Q(2)|p.L3722Q(1) breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4) 103 AAACTCCAGCTGGAGAAAGTC 0.418000 32 238 0 0 0.059317 0 0 PNMAL1 55228 broad.mit.edu 37 19 46973938 46973938 + Missense_Mutation SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr19:46973938G>A ENST00000313683.10 - 2 660 c.355C>T c.(355-357)Cgc>Tgc p.R119C PNMAL1_ENST00000438932.2_Missense_Mutation_p.R119C|PNMAL1_ENST00000602246.1_Intron NM_001103149.1|NM_018215.3 NP_001096619.1|NP_060685.2 Q86V59 PNML1_HUMAN paraneoplastic Ma antigen family-like 1 119 p.R119C(2) cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 25 Ovarian(192;0.00965)|all_neural(266;0.0459) OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427) tcccaggtgcgcccctcggca 0.582000 19 135 0 0 0.055883 0 0 MYH6 4624 broad.mit.edu 37 14 23866411 23866411 + Missense_Mutation SNP C C T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr14:23866411C>T ENST00000405093.3 - 17 2088 c.2018G>A c.(2017-2019)cGt>cAt p.R673H MYH6_ENST00000356287.3_Missense_Mutation_p.R673H NM_002471.3 NP_002462.2 P13533 MYH6_HUMAN myosin, heavy chain 6, cardiac muscle, alpha 673 Actin-binding.|Myosin head-like. adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle p.R673H(1) breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 119 all_cancers(95;2.54e-05) GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441) GATGATGCAACGCACAAAGTG 0.542000 7 305 0 0 0.038147 0 0 SPEN 23013 broad.mit.edu 37 1 16257158 16257158 + Nonsense_Mutation SNP C C T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr1:16257158C>T ENST00000375759.3 + 11 4627 c.4423C>T c.(4423-4425)Cga>Tga p.R1475* NM_015001.2 NP_055816.2 Q96T58 MINT_HUMAN spen family transcriptional repressor 1475 interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway nucleus nucleotide binding|protein binding|RNA binding p.R1475*(1) NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1) 149 Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681) TGCAAATTTTCGAAACAACAA 0.378000 12 172 0 0 0.080935 0 0 LINC00264 0 broad.mit.edu 37 10 26880266 26880266 + RNA SNP G G A rs138111133 by1000genomes TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr10:26880266G>A ENST00000412114.1 + 0 501 NR_026793.1 ACCAAGCCCAGTGGACAGATG 0.443000 3 37 0 0 0.115264 0 0 MIIP 60672 broad.mit.edu 37 1 12090150 12090150 + Missense_Mutation SNP T T G TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr1:12090150T>G ENST00000235332.4 + 8 1080 c.911T>G c.(910-912)tTt>tGt p.F304C MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Intron NM_021933.3 NP_068752.2 Q5JXC2 MIIP_HUMAN migration and invasion inhibitory protein 304 p.F304C(1) autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1) 15 CGAAAGAGCTTTGACGCCTCT 0.697000 14 38 0 0 0.132662 0 0 PRSS50 29122 broad.mit.edu 37 3 46755773 46755773 + Missense_Mutation SNP G G A rs139823108 by1000genomes TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr3:46755773G>A ENST00000460241.1 - 9 2359 c.689C>T c.(688-690)aCg>aTg p.T230M PRSS50_ENST00000315170.7_Missense_Mutation_p.T230M Q9UI38 TSP50_HUMAN protease, serine, 50 230 Peptidase S1. proteolysis endoplasmic reticulum serine-type endopeptidase activity|threonine-type endopeptidase activity p.T230M(1) endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 11 CACATAGTCCGTGCCAGGCAG 0.602000 4 47 0 0 0.009096 0 0 TMEM5 10329 broad.mit.edu 37 12 64173824 64173824 + Silent SNP C C T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr12:64173824C>T ENST00000261234.6 + 1 242 c.84C>T c.(82-84)ttC>ttT p.F28F RP11-415I12.3_ENST00000509615.2_RNA NM_014254.1 NP_055069.1 Q9Y2B1 TMEM5_HUMAN transmembrane protein 5 28 integral to plasma membrane p.F28F(1) breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1) 15 Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(9;0.0985) GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175) ACCACGTCTTCTTcgggcgcc 0.716000 3 29 0 0 0.009096 0 0 UNC80 285175 broad.mit.edu 37 2 210658516 210658516 + Nonsense_Mutation SNP C C T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr2:210658516C>T ENST00000439458.1 + 7 951 c.871C>T c.(871-873)Cga>Tga p.R291* UNC80_ENST00000478701.1_3'UTR|UNC80_ENST00000272845.5_Nonsense_Mutation_p.R291* NM_032504.1 NP_115893.1 Q8N2C7 UNC80_HUMAN unc-80 homolog (C. elegans) 291 integral to membrane p.R291*(2) breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1) 20 AGGCTGTCACCGAGGAAACTC 0.488000 40 123 0 0 0.086207 0 0 PARL 55486 broad.mit.edu 37 3 183547482 183547482 + Silent SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr3:183547482G>A ENST00000317096.4 - 10 1104 c.1044C>T c.(1042-1044)taC>taT p.Y348Y PARL_ENST00000311101.5_Silent_p.Y298Y|PARL_ENST00000435888.1_Silent_p.Y264Y NM_018622.5 NP_061092.3 Q9H300 PARL_HUMAN presenilin associated, rhomboid-like 348 proteolysis integral to membrane|mitochondrial inner membrane|nucleus serine-type endopeptidase activity p.Y348Y(1) endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1) 17 all_cancers(143;6.55e-10)|Ovarian(172;0.0303) all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22) GTTCATGACCGTAAGTAACAT 0.423000 5 350 0 0 0.014758 0 0 LRP1 4035 broad.mit.edu 37 12 57566959 57566959 + Missense_Mutation SNP C C A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr12:57566959C>A ENST00000243077.3 + 21 3638 c.3172C>A c.(3172-3174)Ccc>Acc p.P1058T NM_002332.2 NP_002323.2 Q07954 LRP1_HUMAN low density lipoprotein receptor-related protein 1 1058 aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity coated pit|integral to plasma membrane|nucleus apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity p.P1058T(3) NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5) 184 BRCA - Breast invasive adenocarcinoma(357;0.0103) Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031) AGCCACGAGGCCCCCTGGTGG 0.672000 OREG0021936 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 6 48 0.0215528 0.0236482 0.021553 1 0 DOT1L 84444 broad.mit.edu 37 19 2210728 2210728 + Missense_Mutation SNP C C T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr19:2210728C>T ENST00000398665.3 + 14 1261 c.1225C>T c.(1225-1227)Cgc>Tgc p.R409C NM_032482.2 NP_115871.1 Q8TEK3 DOT1L_HUMAN DOT1-like histone H3K79 methyltransferase 409 Required for interaction with nucleosomes and DNA. nucleus DNA binding|histone-lysine N-methyltransferase activity|protein binding p.R409C(1) 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) GATGGCTGGCCGCAAGCGCGG 0.602000 9 129 0 0 0.069234 0 0 PPP1R1A 5502 broad.mit.edu 37 12 54971306 54971306 + Missense_Mutation SNP C C T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr12:54971306C>T ENST00000547431.1 - 6 355 c.328G>A c.(328-330)Gtg>Atg p.V110M PDE1B_ENST00000394277.3_Intron|PDE1B_ENST00000550620.1_Intron|PDE1B_ENST00000243052.3_Intron|PDE1B_ENST00000538346.1_Intron Q13522 PPR1A_HUMAN protein phosphatase 1, regulatory (inhibitor) subunit 1A 0 glycogen metabolic process|signal transduction protein binding|protein serine/threonine phosphatase inhibitor activity lung(2) 2 AATCCTCCCACGCTCTTCTGT 0.547000 6 151 0 0 0.029380 0 0 BRD8 10902 broad.mit.edu 37 5 137485406 137485406 + Silent SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr5:137485406G>A ENST00000254900.5 - 23 3572 c.3201C>T c.(3199-3201)ggC>ggT p.G1067G NM_139199.1 NP_631938.1 Q9H0E9 BRD8_HUMAN bromodomain containing 8 1067 cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter mitochondrion|NuA4 histone acetyltransferase complex sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity p.G1067G(1) breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1) 35 KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109) CATCACACTCGCCTGAAGGGG 0.502000 15 154 0 0 0.119110 0 0 PIKFYVE 200576 broad.mit.edu 37 2 209190767 209190767 + Nonsense_Mutation SNP C C T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr2:209190767C>T ENST00000264380.4 + 20 3390 c.3232C>T c.(3232-3234)Cga>Tga p.R1078* NM_015040.3 NP_055855.2 Q9Y2I7 FYV1_HUMAN phosphoinositide kinase, FYVE finger containing 1078 cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi early endosome membrane|membrane raft 1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding p.R1078*(2) NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2) 107 ATGCTCTACCCGAGATTATTT 0.423000 5 189 0 0 0.021553 0 0 ADAMTS16 170690 broad.mit.edu 37 5 5303543 5303543 + Silent SNP G G A rs35200003 TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr5:5303543G>A ENST00000274181.7 + 19 3090 c.2952G>A c.(2950-2952)caG>caA p.Q984Q NM_139056.2 NP_620687.2 Q8TE57 ATS16_HUMAN ADAM metallopeptidase with thrombospondin type 1 motif, 16 984 TSP type-1 3. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding p.Q984Q(2) breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 107 GCAACTCTCAGAGCTGCCCAC 0.677000 4 15 0 0 0.009096 0 0 FAM83B 222584 broad.mit.edu 37 6 54735045 54735045 + Translation_Start_Site SNP A A T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr6:54735045A>T ENST00000306858.7 + 2 117 c.1A>T c.(1-3)Atg>Ttg p.M1L NM_001010872.1 NP_001010872.1 Q5T0W9 FA83B_HUMAN family with sequence similarity 83, member B 1 p.M1L(1) autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1) 71 Lung NSC(77;0.0178)|Renal(3;0.122) ACTTGCAAGCATGGAGACCTC 0.378000 19 175 0 0 0.043863 0 0 SLC33A1 9197 broad.mit.edu 37 3 155571051 155571051 + Missense_Mutation SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr3:155571051G>A ENST00000392845.2 - 1 1116 c.736C>T c.(736-738)Cgg>Tgg p.R246W SLC33A1_ENST00000460729.1_5'UTR|SLC33A1_ENST00000359479.3_Missense_Mutation_p.R246W NM_004733.3 NP_004724.1 O00400 ACATN_HUMAN solute carrier family 33 (acetyl-CoA transporter), member 1 246 cell death|transmembrane transport endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction acetyl-CoA transporter activity p.R246W(1) endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1) 22 Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114) GGCTGAAACCGCAAATATTTG 0.408000 4 98 0 0 0.009096 0 0 MED15 51586 broad.mit.edu 37 22 20937203 20937203 + Missense_Mutation SNP C C T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr22:20937203C>T ENST00000263205.7 + 11 1555 c.1486C>T c.(1486-1488)Cgg>Tgg p.R496W MED15_ENST00000425759.2_Missense_Mutation_p.R345W|MED15_ENST00000406969.1_Missense_Mutation_p.R430W|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Missense_Mutation_p.R456W|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.R385W|MED15_ENST00000541476.1_Missense_Mutation_p.R430W NM_001003891.1 NP_001003891.1 Q96RN5 MED15_HUMAN mediator complex subunit 15 496 Pro-rich. regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent Golgi apparatus|mediator complex protein binding p.R496W(1)|p.R456W(1) central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1) 25 all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209) AGTGACGGCGCGGACCCCACA 0.602000 7 95 0 0 0.029380 0 0 SETD1A 9739 broad.mit.edu 37 16 30991347 30991347 + Missense_Mutation SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr16:30991347G>A ENST00000262519.8 + 14 4926 c.4240G>A c.(4240-4242)Gcc>Acc p.A1414T NM_014712.1 NP_055527.1 O15047 SET1A_HUMAN SET domain containing 1A 1414 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nuclear speck|Set1C/COMPASS complex histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding p.A1414T(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 59 accgccccgcgccTACGAGCC 0.687000 7 14 0 0 0.029380 0 0 EPS15 2060 broad.mit.edu 37 1 51826841 51826841 + Splice_Site SNP A A G TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr1:51826841A>G ENST00000371733.3 - 24 2641 c.e24+1 EPS15_ENST00000396122.4_Splice_Site|EPS15_ENST00000371730.2_Splice_Site NM_001981.2 NP_001972.1 P42566 EPS15_HUMAN epidermal growth factor receptor pathway substrate 15 cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport cytosol|early endosome membrane calcium ion binding|SH3 domain binding p.0?(2)|p.?(1) endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2) 35 CACAGTACTTACAGCACTGAA 0.358000 T MLL ALL 40 128 0 0 0.092188 0 0 LINGO2 158038 broad.mit.edu 37 9 27949564 27949564 + Missense_Mutation SNP C C T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr9:27949564C>T ENST00000379992.2 - 6 1555 c.1106G>A c.(1105-1107)cGa>cAa p.R369Q LINGO2_ENST00000308675.3_Missense_Mutation_p.R369Q NM_152570.2 NP_689783.1 Q7L985 LIGO2_HUMAN leucine rich repeat and Ig domain containing 2 369 LRRCT. integral to membrane p.R369Q(4) autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 44 Melanoma(11;0.242) all_neural(11;2.78e-09) UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604) GGTGGGCTGTCGCTGCAAGAT 0.547000 14 61 0 0 0.132662 0 0 CDH17 1015 broad.mit.edu 37 8 95140541 95140541 + Missense_Mutation SNP C C T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr8:95140541C>T ENST00000027335.3 - 18 2550 c.2426G>A c.(2425-2427)cGc>cAc p.R809H CDH17_ENST00000441892.2_Missense_Mutation_p.R557H|CDH17_ENST00000450165.2_Missense_Mutation_p.R809H NM_004063.3 NP_004054.3 Q12864 CAD17_HUMAN cadherin 17, LI cadherin (liver-intestine) 809 integral to membrane calcium ion binding p.R809H(1) NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2) 52 Breast(36;4.65e-06) BRCA - Breast invasive adenocarcinoma(8;0.00691) CTTCTTTATGCGGATAAACAC 0.323000 33 84 0 0 0.045705 0 0 OR1M1 125963 broad.mit.edu 37 19 9204125 9204125 + Missense_Mutation SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr19:9204125G>A ENST00000429566.3 + 1 271 c.205G>A c.(205-207)Gtt>Att p.V69I NM_001004456.1 NP_001004456.1 Q8NGA1 OR1M1_HUMAN olfactory receptor, family 1, subfamily M, member 1 69 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.V69I(2) breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1) 32 CCTGTCCCTGGTTGATTTCTG 0.557000 4 155 0 0 0.009096 0 0 ARG2 384 broad.mit.edu 37 14 68113409 68113409 + Missense_Mutation SNP G G C TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr14:68113409G>C ENST00000261783.3 + 5 751 c.571G>C c.(571-573)Gca>Cca p.A191P ARG2_ENST00000556491.1_3'UTR NM_001172.3 NP_001163.1 P78540 ARGI2_HUMAN arginase 2 191 arginine metabolic process|nitric oxide biosynthetic process|urea cycle mitochondrial matrix arginase activity|metal ion binding p.A191P(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1) 11 all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928) L-Arginine(DB00125)|L-Ornithine(DB00129) TATCTCTTCTGCAAGTATTGT 0.423000 7 239 0 0 0.038147 0 0 PRPF38B 55119 broad.mit.edu 37 1 109241909 109241909 + Missense_Mutation SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr1:109241909G>A ENST00000370021.1 + 7 1212 c.575G>A c.(574-576)cGa>cAa p.R192Q PRPF38B_ENST00000370025.4_Missense_Mutation_p.R303Q Q5VTL8 PR38B_HUMAN pre-mRNA processing factor 38B 303 mRNA processing|RNA splicing spliceosomal complex p.R303Q(1) NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1) 19 all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508) Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161) GAACGCCAGCGACTAGAGCGT 0.512000 12 77 0 0 0.080935 0 0 OR5T1 390155 broad.mit.edu 37 11 56043514 56043514 + Missense_Mutation SNP C C A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr11:56043514C>A ENST00000313033.2 + 1 486 c.400C>A c.(400-402)Cgc>Agc p.R134S NM_001004745.1 NP_001004745.1 Q8NG75 OR5T1_HUMAN olfactory receptor, family 5, subfamily T, member 1 134 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.R134S(1) NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 43 Esophageal squamous(21;0.00448) GGCTTATGATCGCTATGTAGC 0.413000 46 444 2.47872e-24 3.05968e-24 0.117977 1 0 AGTR1 185 broad.mit.edu 37 3 148458896 148458896 + Missense_Mutation SNP A A C TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr3:148458896A>C ENST00000542281.1 + 4 520 c.74A>C c.(73-75)aAt>aCt p.N25T AGTR1_ENST00000461609.1_Missense_Mutation_p.N25T|AGTR1_ENST00000418473.2_Missense_Mutation_p.N25T|AGTR1_ENST00000474935.1_Missense_Mutation_p.N25T|AGTR1_ENST00000404754.2_Missense_Mutation_p.N25T|AGTR1_ENST00000349243.3_Missense_Mutation_p.N25T|AGTR1_ENST00000475347.1_Missense_Mutation_p.N25T|AGTR1_ENST00000402260.1_Missense_Mutation_p.N25T|AGTR1_ENST00000497524.1_Missense_Mutation_p.N25T NM_031850.3 NP_114038.4 P30556 AGTR1_HUMAN angiotensin II receptor, type 1 25 calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity p.N25T(1) breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 30 LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152) Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177) GGAAGGCATAATTACATATTT 0.353000 24 168 0 0 0.069288 0 0 SCN3A 6328 broad.mit.edu 37 2 165970412 165970412 + Missense_Mutation SNP G G T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr2:165970412G>T ENST00000360093.3 - 20 4074 c.3583C>A c.(3583-3585)Ctt>Att p.L1195I SCN3A_ENST00000283254.7_Missense_Mutation_p.L1195I|SCN3A_ENST00000409101.3_Missense_Mutation_p.L1146I NM_001081677.1 NP_001075146.1 Q9NY46 SCN3A_HUMAN sodium channel, voltage-gated, type III, alpha subunit 1195 voltage-gated sodium channel complex voltage-gated sodium channel activity p.L1195I(1) NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3) 120 Lamotrigine(DB00555) GTTTTTCGAAGATTCCACCAG 0.343000 7 289 0.00198382 0.00223888 0.029380 1 0 ZSCAN5B 342933 broad.mit.edu 37 19 56701513 56701513 + Missense_Mutation SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr19:56701513G>A ENST00000586855.2 - 5 1484 c.1171C>T c.(1171-1173)Cgc>Tgc p.R391C ZSCAN5B_ENST00000358992.3_Missense_Mutation_p.R391C A6NJL1 ZSA5B_HUMAN zinc finger and SCAN domain containing 5B 391 viral reproduction nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.R391C(2) breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 37 TGCAAGAAGCGCTTCCGACAG 0.527000 8 98 0 0 0.038147 0 0 CDC45 8318 broad.mit.edu 37 22 19467485 19467485 + Translation_Start_Site SNP C C A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr22:19467485C>A ENST00000407835.1 + 0 250 CDC45_ENST00000404724.3_De_novo_Start_InFrame|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000437685.2_De_novo_Start_InFrame|CDC45_ENST00000263201.1_De_novo_Start_InFrame O75419 CDC45_HUMAN cell division cycle 45 DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle centrosome|nucleoplasm protein binding breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1) 19 GTCCGGCCGCCGTGGCTATGT 0.672000 6 68 0.00307968 0.00342669 0.038147 1 0 STAG3 10734 broad.mit.edu 37 7 99795408 99795408 + Missense_Mutation SNP A A T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr7:99795408A>T ENST00000426455.1 + 11 1480 c.1073A>T c.(1072-1074)gAa>gTa p.E358V STAG3_ENST00000317296.5_Missense_Mutation_p.E358V|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000394018.2_Missense_Mutation_p.E300V Q9UJ98 STAG3_HUMAN stromal antigen 3 358 SCD. chromosome segregation|synaptonemal complex assembly chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex binding p.E358V(1) breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1) 66 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAGCACCGAGAAGTCCGCCTG 0.562000 8 146 0 0 0.047766 0 0 INTS12 57117 broad.mit.edu 37 4 106607868 106607868 + Missense_Mutation SNP A A G TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr4:106607868A>G ENST00000451321.2 - 6 1264 c.785T>C c.(784-786)tTt>tCt p.F262S INTS12_ENST00000394735.1_Missense_Mutation_p.F262S|INTS12_ENST00000340139.5_Missense_Mutation_p.F262S NM_001142471.1 NP_001135943.1 Q96CB8 INT12_HUMAN integrator complex subunit 12 262 snRNA processing integrator complex protein binding|zinc ion binding p.F262S(1) breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1) 14 OV - Ovarian serous cystadenocarcinoma(123;5.12e-07) TGTTCTCTTAAACGCTAGAAA 0.313000 3 132 0 0 0.115264 0 0 CEP290 80184 broad.mit.edu 37 12 88487642 88487642 + Missense_Mutation SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr12:88487642G>A ENST00000552810.1 - 28 3557 c.3214C>T c.(3214-3216)Cgg>Tgg p.R1072W CEP290_ENST00000547691.2_Missense_Mutation_p.R132W|CEP290_ENST00000309041.7_Missense_Mutation_p.R1074W|CEP290_ENST00000397838.3_Missense_Mutation_p.R132W NM_025114.3 NP_079390.3 O15078 CE290_HUMAN centrosomal protein 290kDa 1072 cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium protein binding p.R1074W(1)|p.R1072W(1) breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1) 73 TGTTCAGCCCGCTGCCTTTCA 0.348000 3 78 0 0 0.115264 0 0 GIGYF2 26058 broad.mit.edu 37 2 233620970 233620970 + Missense_Mutation SNP T T C TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr2:233620970T>C ENST00000373566.3 + 6 502 c.305T>C c.(304-306)cTg>cCg p.L102P GIGYF2_ENST00000373563.4_Missense_Mutation_p.L102P|GIGYF2_ENST00000409480.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000409547.1_Missense_Mutation_p.L102P|GIGYF2_ENST00000409451.3_Missense_Mutation_p.L102P|GIGYF2_ENST00000409196.3_Missense_Mutation_p.L102P Q6Y7W6 PERQ2_HUMAN GRB10 interacting GYF protein 2 102 cell death protein binding p.L102P(1) NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 63 Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839) Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145) GCTGCTGTCCTGCGATTGACA 0.393000 3 78 0 0 0.115264 0 0 BRCA2 675 broad.mit.edu 37 13 32912796 32912796 + Missense_Mutation SNP A A C TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr13:32912796A>C ENST00000544455.1 + 11 4531 c.4304A>C c.(4303-4305)aAt>aCt p.N1435T BRCA2_ENST00000380152.3_Missense_Mutation_p.N1435T NM_000059.3 NP_000050.2 P51587 BRCA2_HUMAN breast cancer 2, early onset 1435 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding p.N1435T(3) NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) AGTGGGAAAAATATTAGTGTC 0.284000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 26 237 0 0 0.091800 0 0 TNC 3371 broad.mit.edu 37 9 117852969 117852969 + Missense_Mutation SNP G G T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr9:117852969G>T ENST00000350763.4 - 2 740 c.329C>A c.(328-330)gCc>gAc p.A110D TNC_ENST00000542877.1_Missense_Mutation_p.A110D|TNC_ENST00000340094.3_Missense_Mutation_p.A110D|TNC_ENST00000537320.1_Missense_Mutation_p.A110D|TNC_ENST00000423613.2_Missense_Mutation_p.A110D|TNC_ENST00000535648.1_Missense_Mutation_p.A110D|TNC_ENST00000341037.4_Missense_Mutation_p.A110D|TNC_ENST00000345230.3_Missense_Mutation_p.A110D|TNC_ENST00000346706.3_Missense_Mutation_p.A110D NM_002160.3 NP_002151.2 P24821 TENA_HUMAN tenascin C 110 cell adhesion|response to wounding|signal transduction extracellular space receptor binding|syndecan binding p.A110D(1) NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2) 120 ACAGCCACAGGCCCGGCGGGG 0.587000 64 531 9.42754e-34 1.18218e-33 0.139131 1 0 BMP6 654 broad.mit.edu 37 6 7845502 7845502 + Missense_Mutation SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr6:7845502G>A ENST00000283147.6 + 2 953 c.794G>A c.(793-795)gGg>gAg p.G265E NM_001718.4 NP_001709.1 P22004 BMP6_HUMAN bone morphogenetic protein 6 265 BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction extracellular space BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity p.G265E(1) breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1) 23 Ovarian(93;0.0721) TGTGTTATGGGGAGTTTTAAA 0.473000 13 164 0 0 0.093190 0 0 ABHD17B 51104 broad.mit.edu 37 9 74485071 74485071 + Missense_Mutation SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr9:74485071G>A ENST00000333421.6 - 3 686 c.575C>T c.(574-576)tCt>tTt p.S192F ABHD17B_ENST00000377041.2_Missense_Mutation_p.S192F NM_001025780.1 NP_001020951.1 abhydrolase domain containing 17B p.S192F(1) AGTCAGAGGAGAATGAAGAAT 0.408000 74 225 0 0 0.139131 0 0 TBC1D15 64786 broad.mit.edu 37 12 72288542 72288542 + Missense_Mutation SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr12:72288542G>A ENST00000550746.1 + 8 849 c.785G>A c.(784-786)aGa>aAa p.R262K TBC1D15_ENST00000485960.2_Missense_Mutation_p.R245K|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R253K|TBC1D15_ENST00000393309.3_Missense_Mutation_p.R16K NM_001146213.1|NM_022771.4 NP_001139685.2|NP_073608.4 Q8TC07 TBC15_HUMAN TBC1 domain family, member 15 262 protein binding|Rab GTPase activator activity p.R262K(1) NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 GACAGTTTGAGAGGCAGCGAT 0.368000 5 200 0 0 0.014758 0 0 KRT35 3886 broad.mit.edu 37 17 39633889 39633889 + Silent SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr17:39633889G>A ENST00000246639.2 - 6 1143 c.1011C>T c.(1009-1011)gcC>gcT p.A337A KRT35_ENST00000393989.1_Silent_p.A367A Q92764 KRT35_HUMAN keratin 35 367 Coil 2.|Rod. anatomical structure morphogenesis intermediate filament protein binding|structural molecule activity p.A367A(2) NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 29 Breast(137;0.000286) CCCGGATCTCGGCCAGCTGGG 0.647000 3 57 0 0 0.115264 0 0 ADCK3 56997 broad.mit.edu 37 1 227152757 227152757 + Silent SNP G G A TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr1:227152757G>A ENST00000366779.1 + 8 3005 c.234G>A c.(232-234)gaG>gaA p.E78E ADCK3_ENST00000366777.3_Silent_p.E78E|ADCK3_ENST00000366778.1_Silent_p.E26E|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366775.1_Intron|ADCK3_ENST00000366776.1_Intron|ADCK3_ENST00000458507.2_Intron Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 78 cell death mitochondrion ATP binding|protein serine/threonine kinase activity p.E78E(1) endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 CAGAAGGGGAGTTCCACTTCT 0.587000 6 57 0 0 0.021553 0 0 PADI6 353238 broad.mit.edu 37 1 17723476 17723477 + RNA INS - - CA rs67024576 by1000genomes TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr1:17723476_17723477insCA ENST00000434762.2 + 0 1669 Q6TGC4 PADI6_HUMAN peptidyl arginine deiminase, type VI peptidyl-citrulline biosynthetic process from peptidyl-arginine cytoplasm|nucleus calcium ion binding|protein-arginine deiminase activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2) 29 Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189) L-Citrulline(DB00155) AGGAATGCACCCAGGTGGCTGG 0.629 3 3 --- --- --- --- ENTPD3-AS1 0 broad.mit.edu 37 3 40418595 40418595 + RNA DEL G G - TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr3:40418595delG ENST00000439293.1 - 0 143 agggaggggaggggagggagg 0.557 3 5 --- --- --- --- WNT5A 7474 broad.mit.edu 37 3 55508479 55508480 + Frame_Shift_Ins INS - - T TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr3:55508479_55508480insT ENST00000474267.1 - 5 1090_1091 c.569_570insA c.(568-570)tcgfs p.S190fs WNT5A_ENST00000497027.1_Frame_Shift_Ins_p.S175fs|WNT5A_ENST00000264634.4_Frame_Shift_Ins_p.S190fs P41221 WNT5A_HUMAN wingless-type MMTV integration site family, member 5A 190 activation of JUN kinase activity|activation of protein kinase B activity|axon guidance|cartilage development|cellular protein localization|cellular response to calcium ion|cellular response to interferon-gamma|cellular response to lipopolysaccharide|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|cervix development|cochlea morphogenesis|convergent extension involved in organogenesis|dopaminergic neuron differentiation|dorsal/ventral axis specification|embryonic digit morphogenesis|embryonic skeletal system development|epithelial cell proliferation involved in mammary gland duct elongation|epithelial to mesenchymal transition|face development|genitalia development|heart looping|hemopoietic stem cell proliferation|keratinocyte differentiation|lateral sprouting involved in mammary gland duct morphogenesis|lens development in camera-type eye|male gonad development|mammary gland branching involved in thelarche|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of mesenchymal cell proliferation|negative regulation of transcription, DNA-dependent|neural tube closure|olfactory bulb interneuron development|optic cup formation involved in camera-type eye development|palate development|positive regulation of angiogenesis|positive regulation of cartilage development|positive regulation of cGMP metabolic process|positive regulation of chemokine biosynthetic process|positive regulation of cytokine secretion involved in immune response|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of macrophage activation|positive regulation of macrophage cytokine production|positive regulation of mesenchymal cell proliferation|positive regulation of neuron projection development|positive regulation of NF-kappaB transcription factor activity|positive regulation of ossification|positive regulation of protein catabolic process|positive regulation of protein kinase C signaling cascade|positive regulation of T cell chemotaxis|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|primitive streak formation|regulation of branching involved in mammary gland duct morphogenesis|somitogenesis|tail morphogenesis|type B pancreatic cell development|urinary bladder development|uterus development|vagina development|Wnt receptor signaling pathway, calcium modulating pathway|wound healing extracellular space|membrane fraction|plasma membrane|proteinaceous extracellular matrix frizzled binding|frizzled-2 binding|receptor tyrosine kinase-like orphan receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding breast(2)|endometrium(1)|large_intestine(4)|lung(3)|prostate(2)|urinary_tract(1) 13 KIRC - Kidney renal clear cell carcinoma(284;0.00377)|Kidney(284;0.00408)|OV - Ovarian serous cystadenocarcinoma(275;0.204) TGGCAAAGCGGTAGCCATAGTC 0.683 5 11 --- --- --- --- CCDC39 339829 broad.mit.edu 37 3 180381743 180381743 + Frame_Shift_Del DEL A A - TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr3:180381743delA ENST00000273654.4 - 8 993 c.374delT c.(373-375)tgfs p.L125fs CCDC39_ENST00000442201.2_Frame_Shift_Del_p.L41fs Q9UFE4 CCD39_HUMAN coiled-coil domain containing 39 41 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium axoneme|cytoplasm|cytoskeleton NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2) 45 all_cancers(143;9.31e-15)|Ovarian(172;0.0212) OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558) CTCATCTTGCAAGCTTGCTCT 0.338 35 141 --- --- --- --- CTAGE6 340307 broad.mit.edu 37 7 143454287 143454291 + Frame_Shift_Del DEL TTCTT TTCTT - TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr7:143454287_143454291delTTCTT ENST00000470691.2 - 1 498_502 c.461_465delAAGAA c.(460-465)afs p.KE154fs NM_178561.4 NP_848656.2 CTAGE family, member 6 Melanoma(164;0.0903) TAGATTTCTCTTCTTTTAAGTCTTT 0.376 2 4 --- --- --- --- RP11-551L14.1 0 broad.mit.edu 37 12 31269805 31269806 + RNA INS - - AAG rs67001718 TCGA-CH-5764-01A-21D-1576-08 TCGA-CH-5764-11A-01D-1576-08 Untested Somatic Phase_I WXS none Illumina GAIIx df9acd7f-8875-4113-aba6-e89844ca6a43 fcc3c66f-f4b0-4cbc-add4-9f14713ef0eb g.chr12:31269805_31269806insAAG ENST00000542490.1 - 0 52 central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1) 41 CAATATTCCTCAAACTTCTCTT 0.307 4 5 --- --- --- ---