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 IFT172 26160 broad.mit.edu 37 2 27680574 27680574 + Missense_Mutation SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr2:27680574C>T ENST00000260570.3 - 29 3263 c.3160G>A c.(3160-3162)Gag>Aag p.E1054K NM_015662.1 NP_056477.1 Q9UG01 IF172_HUMAN intraflagellar transport 172 homolog (Chlamydomonas) 1054 cilium assembly cilium binding central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1) 43 Acute lymphoblastic leukemia(172;0.155) TCCTGGGCCTCGAGGTAGTGG 0.582000 21 30 0 0 1 0 0 SCAMP5 192683 broad.mit.edu 37 15 75305126 75305126 + Missense_Mutation SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr15:75305126G>A ENST00000361900.6 + 4 323 c.116G>A c.(115-117)cGc>cAc p.R39H SCAMP5_ENST00000562212.1_Missense_Mutation_p.R39H|SCAMP5_ENST00000545456.1_Silent_p.A20A|SCAMP5_ENST00000425597.3_Missense_Mutation_p.R39H|SCAMP5_ENST00000565923.1_3'UTR NM_001178111.1 NP_001171582.1 Q8TAC9 SCAM5_HUMAN secretory carrier membrane protein 5 39 exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane protein binding large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2) 5 ATGACCAAGCGCCTCTACTAC 0.587000 16 27 0 0 1 0 0 UNC5C 8633 broad.mit.edu 37 4 96091364 96091364 + Missense_Mutation SNP A A T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr4:96091364A>T ENST00000453304.1 - 15 2919 c.2571T>A c.(2569-2571)gaT>gaA p.D857E NM_003728.3 NP_003719.3 O95185 UNC5C_HUMAN unc-5 homolog C (C. elegans) 857 Death. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1) 55 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) TCTGGGGGGCATCCAGGCTGC 0.597000 83 139 0 0 1 0 0 ARHGDIA 396 broad.mit.edu 37 17 79826815 79826815 + Missense_Mutation SNP G G C rs115573742 byFrequency TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr17:79826815G>C ENST00000269321.7 - 6 687 c.552C>G c.(550-552)gaC>gaG p.D184E ARHGDIA_ENST00000580685.1_Missense_Mutation_p.D184E|ARHGDIA_ENST00000400721.4_Missense_Mutation_p.D140E|ARHGDIA_ENST00000581876.1_Missense_Mutation_p.D109E|ARHGDIA_ENST00000541078.2_Missense_Mutation_p.D184E|ARHGDIA_ENST00000584461.1_Intron NM_001185078.1|NM_004309.4 NP_001172007.1|NP_004300.1 P52565 GDIR1_HUMAN Rho GDP dissociation inhibitor (GDI) alpha 184 anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction cytoskeleton|cytosol GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity endometrium(1)|lung(1)|prostate(1) 3 all_neural(118;0.0878)|Ovarian(332;0.12) BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382) CGGTCTTGTCGTCGTCTGTGA 0.642000 26 57 0 0 1 0 0 CCDC8 83987 broad.mit.edu 37 19 46915423 46915423 + Silent SNP C C G TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr19:46915423C>G ENST00000307522.3 - 1 1418 c.645G>C c.(643-645)ccG>ccC p.P215P NM_032040.4 NP_114429.2 Q9H0W5 CCDC8_HUMAN coiled-coil domain containing 8 215 plasma membrane breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421) GGCCCGCCCTCGGCGCCCAAC 0.711000 14 23 0 0 1 0 0 RYR2 6262 broad.mit.edu 37 1 237777572 237777572 + Missense_Mutation SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr1:237777572C>T ENST00000366574.2 + 37 5461 c.5144C>T c.(5143-5145)gCc>gTc p.A1715V RYR2_ENST00000360064.6_Missense_Mutation_p.A1713V|RYR2_ENST00000542537.1_Missense_Mutation_p.A1699V NM_001035.2 NP_001026.2 Q92736 RYR2_HUMAN ryanodine receptor 2 (cardiac) 1715 4 X approximate repeats. cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4) 586 Ovarian(103;0.103) all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225) OV - Ovarian serous cystadenocarcinoma(106;0.00606) AGCTCCTATGCCACTGCCAGG 0.512000 3 33 0 0 1 0 0 CYP2C9 1559 broad.mit.edu 37 10 96745813 96745813 + Silent SNP G G C TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr10:96745813G>C ENST00000260682.6 + 8 1185 c.1173G>C c.(1171-1173)ctG>ctC p.L391L NM_000771.3 NP_000762.2 P11712 CP2C9_HUMAN cytochrome P450, family 2, subfamily C, polypeptide 9 391 exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome (S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity p.L391L(1) breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 Colorectal(252;0.0902) all cancers(201;6.93e-05) Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744) TAATTTCCCTGACTTCTGTGC 0.383000 6 63 0 0 1 0 0 NXPH1 30010 broad.mit.edu 37 7 8791292 8791292 + Missense_Mutation SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr7:8791292G>A ENST00000405863.1 + 3 1620 c.709G>A c.(709-711)Gtg>Atg p.V237M NXPH1_ENST00000602349.1_Missense_Mutation_p.V120M|NXPH1_ENST00000497400.1_3'UTR NM_152745.2 NP_689958.1 P58417 NXPH1_HUMAN neurexophilin 1 237 V (Cys-rich). 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) GCCCTTTAAGGTGATCTGTAT 0.433000 16 16 0 0 1 0 0 SEPT2 4735 broad.mit.edu 37 2 242265484 242265484 + Missense_Mutation SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr2:242265484G>A ENST00000391973.2 + 3 614 c.86G>A c.(85-87)cGa>cAa p.R29Q SEPT2_ENST00000402092.2_Missense_Mutation_p.R29Q|SEPT2_ENST00000391971.2_Missense_Mutation_p.R29Q|SEPT2_ENST00000360051.3_Missense_Mutation_p.R29Q|SEPT2_ENST00000401990.1_Missense_Mutation_p.R29Q|SEPT2_ENST00000407971.1_5'UTR NM_006155.1 NP_006146.1 Q15019 SEPT2_HUMAN septin 2 29 cell division|mitosis actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle GTP binding central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2) 12 all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244) Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889) CAAGTTCACCGAAAATCAGTG 0.353000 6 23 0 0 1 0 0 SPACA4 171169 broad.mit.edu 37 19 49110400 49110400 + Silent SNP G G T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr19:49110400G>T ENST00000321762.1 + 1 401 c.165G>T c.(163-165)ccG>ccT p.P55P FAM83E_ENST00000263266.3_Intron NM_133498.2 NP_598005.1 Q8TDM5 SACA4_HUMAN sperm acrosome associated 4 55 UPAR/Ly6 1. cell adhesion acrosomal vesicle|anchored to membrane|plasma membrane central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1) 5 all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261) OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155) GGGTCGCCCCGGGCACTGGTC 0.627000 27 58 2.79863e-10 2.85882e-10 1 1 0 BTN2A1 11120 broad.mit.edu 37 6 26463495 26463495 + Missense_Mutation SNP T T C TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr6:26463495T>C ENST00000429381.1 + 4 666 c.454T>C c.(454-456)Tca>Cca p.S152P BTN2A1_ENST00000541522.1_Missense_Mutation_p.S91P|BTN2A1_ENST00000312541.5_Missense_Mutation_p.S152P|BTN2A1_ENST00000469185.1_Missense_Mutation_p.S152P Q7KYR7 BT2A1_HUMAN butyrophilin, subfamily 2, member A1 152 lipid metabolic process integral to plasma membrane breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3) 27 GCCCCTCATTTCAATGAGGGG 0.547000 31 57 0 0 1 0 0 CSMD1 64478 broad.mit.edu 37 8 2966208 2966208 + Missense_Mutation SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr8:2966208G>A ENST00000602557.1 - 45 7229 c.6674C>T c.(6673-6675)aCg>aTg p.T2225M CSMD1_ENST00000602723.1_Missense_Mutation_p.T2225M|CSMD1_ENST00000400186.3_Missense_Mutation_p.T2225M|CSMD1_ENST00000542608.1_Missense_Mutation_p.T2224M|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2224M|CSMD1_ENST00000520002.1_Missense_Mutation_p.T2225M Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2225 CUB 13. integral to membrane breast(20)|large_intestine(5) 25 all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234) all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689) GCTATACGCCGTTTCGAGGGC 0.502000 10 7 0 0 1 0 0 NCF4 4689 broad.mit.edu 37 22 37272079 37272079 + Missense_Mutation SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr22:37272079C>T ENST00000397147.4 + 8 1196 c.1012C>T c.(1012-1014)Cgg>Tgg p.R338W NCF4_ENST00000248899.6_Missense_Mutation_p.A256V NM_013416.3 NP_038202.2 Q15080 NCF4_HUMAN neutrophil cytosolic factor 4, 40kDa 0 cell communication|immune response|oxidation-reduction process cytosol|NADPH oxidase complex phosphatidylinositol binding|protein dimerization activity cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1) 16 AGGGACATCGCGGTGGAGGAA 0.607000 11 19 0 0 1 0 0 FFAR1 2864 broad.mit.edu 37 19 35842837 35842837 + Missense_Mutation SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr19:35842837C>T ENST00000246553.2 + 1 393 c.383C>T c.(382-384)gCg>gTg p.A128V NM_005303.2 NP_005294.1 O14842 FFAR1_HUMAN free fatty acid receptor 1 128 energy reserve metabolic process|regulation of insulin secretion integral to plasma membrane G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 10 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417) Icosapent(DB00159) GGGGTGTGCGCGGCCATCTGG 0.667000 22 21 0 0 1 0 0 IGHMBP2 3508 broad.mit.edu 37 11 68696716 68696716 + Missense_Mutation SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr11:68696716G>A ENST00000255078.3 + 8 1237 c.1126G>A c.(1126-1128)Gag>Aag p.E376K NM_002180.2 NP_002171.2 P38935 SMBP2_HUMAN immunoglobulin mu binding protein 2 376 Leu-rich. cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation axon|growth cone|nucleus|ribonucleoprotein complex ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 36 STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713) GGTCATTGACGAGTGTGCCCA 0.652000 10 405 0 0 1 0 0 OR2G3 81469 broad.mit.edu 37 1 247769658 247769658 + Silent SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr1:247769658C>T ENST00000320002.2 + 1 803 c.771C>T c.(769-771)taC>taT p.Y257Y RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA NM_001001914.1 NP_001001914.1 Q8NGZ4 OR2G3_HUMAN olfactory receptor, family 2, subfamily G, member 3 257 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity p.Y257*(1) NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5) 50 all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724) OV - Ovarian serous cystadenocarcinoma(106;0.017) CCATAATCTACGTGTACCTGC 0.473000 24 13 0 0 1 0 0 SEMA7A 8482 broad.mit.edu 37 15 74704320 74704320 + Missense_Mutation SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr15:74704320C>T ENST00000261918.4 - 11 1876 c.1328G>A c.(1327-1329)gGg>gAg p.G443E SEMA7A_ENST00000543145.2_Missense_Mutation_p.G429E|SEMA7A_ENST00000542748.1_Missense_Mutation_p.G278E NM_003612.3 NP_003603.1 O75326 SEM7A_HUMAN semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) 443 Sema. axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response anchored to membrane|external side of plasma membrane receptor activity breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1) 30 CTCCTGCTCCCCCGGTTCCAC 0.632000 30 45 0 0 1 0 0 ZNF43 7594 broad.mit.edu 37 19 21990749 21990749 + Missense_Mutation SNP T T C TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr19:21990749T>C ENST00000594012.1 - 7 2586 c.2072A>G c.(2071-2073)aAg>aGg p.K691R ZNF43_ENST00000595461.1_Missense_Mutation_p.K691R|ZNF43_ENST00000354959.4_Missense_Mutation_p.K697R|ZNF43_ENST00000598381.1_Missense_Mutation_p.K691R NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1 NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1 P17038 ZNF43_HUMAN zinc finger protein 43 697 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2) 51 Renal(1328;0.000219)|Hepatocellular(1079;0.121) GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127) ATGAATAATCTTATGTGTAGA 0.348000 18 38 0 0 1 0 0 CSNK1E 1454 broad.mit.edu 37 22 38710135 38710135 + Missense_Mutation SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr22:38710135G>A ENST00000396832.1 - 2 288 c.28C>T c.(28-30)Cgc>Tgc p.R10C CSNK1E_ENST00000400206.2_Missense_Mutation_p.R10C|CSNK1E_ENST00000413574.2_Missense_Mutation_p.R10C|CSNK1E_ENST00000405675.3_Missense_Mutation_p.R10C|CSNK1E_ENST00000359867.3_Missense_Mutation_p.R10C|CSNK1E_ENST00000403904.1_Missense_Mutation_p.R10C NM_152221.2 NP_689407.1 P49674 KC1E_HUMAN casein kinase 1, epsilon 10 Protein kinase. DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction cytosol|nucleus ATP binding|protein binding|protein serine/threonine kinase activity breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1) 22 Melanoma(58;0.045) CGTCCCAGGCGGTACTTGTTC 0.617000 29 28 0 0 1 0 0 SEZ6L 23544 broad.mit.edu 37 22 26769434 26769434 + Missense_Mutation SNP G G C TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr22:26769434G>C ENST00000404234.3 + 14 3008 c.2812G>C c.(2812-2814)Gaa>Caa p.E938Q SEZ6L_ENST00000402979.1_Missense_Mutation_p.E711Q|SEZ6L_ENST00000494013.1_Intron|SEZ6L_ENST00000360929.3_Intron|SEZ6L_ENST00000529632.2_Intron|SEZ6L_ENST00000343706.4_Intron|SEZ6L_ENST00000403121.1_Intron|SEZ6L_ENST00000411842.2_Intron|SEZ6L_ENST00000248933.6_Missense_Mutation_p.E938Q NM_001184773.1|NM_021115.4 NP_001171702.1|NP_066938.2 Q9BYH1 SE6L1_HUMAN seizure related 6 homolog (mouse)-like 938 endoplasmic reticulum membrane|integral to membrane p.E938K(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1) 80 AGACAGTTTTGAACATGCTTT 0.323000 5 26 0 0 1 0 0 MAVS 57506 broad.mit.edu 37 20 3845128 3845128 + Missense_Mutation SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr20:3845128C>T ENST00000428216.2 + 6 979 c.851C>T c.(850-852)tCc>tTc p.S284F MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.S143F NM_020746.4 NP_065797.2 Q7Z434 MAVS_HUMAN mitochondrial antiviral signaling protein 284 activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus integral to membrane|mitochondrial outer membrane CARD domain binding|protein kinase binding|signal transducer activity autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 14 ATCATCTGCTCCAGTGGGGCA 0.612000 20 44 0 0 1 0 0 GRM1 2911 broad.mit.edu 37 6 146351241 146351241 + Silent SNP T T C TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr6:146351241T>C ENST00000392299.2 + 2 1058 c.588T>C c.(586-588)acT>acC p.T196T GRM1_ENST00000361719.2_Silent_p.T196T|GRM1_ENST00000355289.4_Silent_p.T196T|GRM1_ENST00000492807.2_Silent_p.T196T|GRM1_ENST00000282753.1_Silent_p.T196T|GRM1_ENST00000507907.1_Silent_p.T196T Q13255 GRM1_HUMAN glutamate receptor, metabotropic 1 196 synaptic transmission integral to plasma membrane G-protein coupled receptor activity|glutamate receptor activity NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1) 126 Ovarian(120;0.0387) OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762) Acamprosate(DB00659)|L-Glutamic Acid(DB00142) GTGACAAAACTTTGTACAAAT 0.493000 48 78 0 0 1 0 0 LOC440040 440040 broad.mit.edu 37 11 49598177 49598177 + RNA SNP T T C TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr11:49598177T>C ENST00000527477.1 + 0 781 GAGGGCTTGGTGTGCTCTGTG 0.522000 6 22 0 0 1 0 0 KDM5B 10765 broad.mit.edu 37 1 202742292 202742292 + Missense_Mutation SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr1:202742292C>T ENST00000367265.3 - 4 1694 c.530G>A c.(529-531)cGa>cAa p.R177Q KDM5B_ENST00000367264.2_Missense_Mutation_p.R177Q NM_006618.3 NP_006609.3 Q9UGL1 KDM5B_HUMAN lysine (K)-specific demethylase 5B 177 ARID. negative regulation of transcription, DNA-dependent nucleolus DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding breast(2)|ovary(2)|skin(1)|urinary_tract(1) 6 GTTGAGAATTCGTTCATAATG 0.443000 18 41 0 0 1 0 0 CIT 11113 broad.mit.edu 37 12 120221731 120221731 + Missense_Mutation SNP G G C TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr12:120221731G>C ENST00000392521.2 - 12 1581 c.1526C>G c.(1525-1527)aCc>aGc p.T509S CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.T509S NM_001206999.1 NP_001193928.1 O14578 CTRO_HUMAN citron (rho-interacting, serine/threonine kinase 21) 509 intracellular signal transduction ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6) 86 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) Myeloproliferative disorder(1001;0.0255) BRCA - Breast invasive adenocarcinoma(302;0.211) TGTGATGTAGGTAGCAAGGTC 0.552000 11 267 0 0 1 0 0 XIRP2 129446 broad.mit.edu 37 2 168100817 168100817 + Missense_Mutation SNP C C A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr2:168100817C>A ENST00000409195.1 + 9 3004 c.2915C>A c.(2914-2916)aCa>aAa p.T972K XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T972K|XIRP2_ENST00000409043.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T750K|XIRP2_ENST00000409728.1_Intron NM_152381.5 NP_689594.4 A4UGR9 XIRP2_HUMAN xin actin-binding repeat containing 2 797 actin cytoskeleton organization cell junction actin binding NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7) 315 GAAGGAGTTACAAGAGGTGCT 0.358000 34 6 2.09667e-21 2.23801e-21 1 1 0 POTEC 388468 broad.mit.edu 37 18 14513734 14513734 + Missense_Mutation SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr18:14513734C>T ENST00000358970.5 - 10 1459 c.1460G>A c.(1459-1461)gGa>gAa p.G487E NM_001137671.1 NP_001131143.1 B2RU33 POTEC_HUMAN POTE ankyrin domain family, member C 487 p.G487E(2) NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3) 52 TTGTGATATTCCAGTGTTCTG 0.323000 4 39 0 0 1 0 0 LRRN1 57633 broad.mit.edu 37 3 3887743 3887743 + Missense_Mutation SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr3:3887743C>T ENST00000319331.3 + 2 2179 c.1418C>T c.(1417-1419)tCa>tTa p.S473L SUMF1_ENST00000534863.1_Intron NM_020873.5 NP_065924.3 Q6UXK5 LRRN1_HUMAN leucine rich repeat neuronal 1 473 Ig-like C2-type. integral to membrane NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2) 26 Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617) GAAACCCTTTCAGATAAATAC 0.438000 40 32 0 0 1 0 0 WDR62 284403 broad.mit.edu 37 19 36572337 36572337 + Silent SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr19:36572337G>A ENST00000401500.2 + 10 1271 c.1236G>A c.(1234-1236)gtG>gtA p.V412V WDR62_ENST00000270301.7_Silent_p.V412V|WDR62_ENST00000388999.3_Silent_p.V412V NM_001083961.1|NM_173636.4 NP_001077430.1|NP_775907.4 O43379 WDR62_HUMAN WD repeat domain 62 412 cerebral cortex development nucleus cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3) 43 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.06) AACTGTAGGTGTATCCTGAGT 0.418000 40 39 0 0 1 0 0 UBN2 254048 broad.mit.edu 37 7 138969205 138969205 + Missense_Mutation SNP G G T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr7:138969205G>T ENST00000288561.8 + 15 3554 c.3305G>T c.(3304-3306)aGg>aTg p.R1102M UBN2_ENST00000473989.2_Missense_Mutation_p.R1185M NM_173569.3 NP_775840.3 Q6ZU65 UBN2_HUMAN ubinuclein 2 1185 Ser-rich. NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1) 42 GGAGCTAATAGGACTAGTCTG 0.493000 10 51 0.00621372 0.00627982 1 1 0 CAD 790 broad.mit.edu 37 2 27448088 27448088 + Missense_Mutation SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr2:27448088G>A ENST00000264705.4 + 11 1759 c.1597G>A c.(1597-1599)Gag>Aag p.E533K CAD_ENST00000403525.1_Missense_Mutation_p.E533K NM_004341.3 NP_004332.2 P27708 PYR1_HUMAN carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase 533 ATP-grasp 1.|CPSase (Carbamoyl-phosphate synthase).|CPSase A. 'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process cytosol|neuronal cell body|nuclear matrix|terminal button aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 92 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) L-Aspartic Acid(DB00128)|L-Glutamine(DB00130) GGCCCCGAGCGAGGCAGCAAA 0.493000 8 28 0 0 1 0 0 SEL1L3 23231 broad.mit.edu 37 4 25849151 25849151 + Silent SNP G G T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr4:25849151G>T ENST00000399878.3 - 2 620 c.498C>A c.(496-498)atC>atA p.I166I SEL1L3_ENST00000264868.5_Silent_p.I131I|SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000502949.1_Silent_p.I13I NM_015187.3 NP_056002.2 Q68CR1 SE1L3_HUMAN sel-1 suppressor of lin-12-like 3 (C. elegans) 166 integral to membrane binding breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2) 14 CAGATACAGAGATGGAATGTC 0.403000 12 16 5.16669e-11 5.33517e-11 1 1 0 CASC5 57082 broad.mit.edu 37 15 40913774 40913774 + Missense_Mutation SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr15:40913774G>A ENST00000346991.5 + 11 1780 c.1390G>A c.(1390-1392)Gaa>Aaa p.E464K CASC5_ENST00000399668.2_Missense_Mutation_p.E438K|CASC5_ENST00000527044.1_3'UTR Q8NG31 CASC5_HUMAN cancer susceptibility candidate 5 464 Interaction with BUB1 and BUB1B. acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm protein binding NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1) 57 all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946) GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211) TGATGCCATGGAAATGACCAA 0.348000 32 48 0 0 1 0 0 A4GNT 51146 broad.mit.edu 37 3 137843680 137843680 + Missense_Mutation SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr3:137843680G>A ENST00000236709.3 - 3 650 c.449C>T c.(448-450)tCg>tTg p.S150L NM_016161.2 NP_057245.1 Q9UNA3 A4GCT_HUMAN alpha-1,4-N-acetylglucosaminyltransferase 150 protein O-linked glycosylation Golgi membrane|Golgi stack|integral to membrane|membrane fraction acetylglucosaminyltransferase activity|galactosyltransferase activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7) 16 GGATGCATCCGAGCTGATGTG 0.567000 32 41 0 0 1 0 0 GBP5 115362 broad.mit.edu 37 1 89735197 89735197 + Missense_Mutation SNP G G C TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr1:89735197G>C ENST00000343435.5 - 3 578 c.42C>G c.(40-42)atC>atG p.I14M GBP5_ENST00000370459.3_Missense_Mutation_p.I14M|RP4-620F22.2_ENST00000437128.1_RNA NM_001134486.2|NM_052942.3 NP_001127958.1|NP_443174.1 Q96PP8 GBP5_HUMAN guanylate binding protein 5 14 plasma membrane GTP binding|GTPase activity p.I14I(1) breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1) 24 all cancers(265;0.00784)|Epithelial(280;0.0286) TAAAGTTCTCGATGAGGCACA 0.478000 44 113 0 0 1 0 0 AMIGO1 57463 broad.mit.edu 37 1 110051072 110051072 + Missense_Mutation SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr1:110051072C>T ENST00000369864.4 - 2 812 c.463G>A c.(463-465)Gat>Aat p.D155N AMIGO1_ENST00000369862.1_Missense_Mutation_p.D155N Q86WK6 AMGO1_HUMAN adhesion molecule with Ig-like domain 1 155 axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis axon|integral to membrane autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244) Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227) GCCATGTCATCGAAGGCGCAC 0.542000 51 73 0 0 1 0 0 P2RY13 53829 broad.mit.edu 37 3 151046793 151046793 + Silent SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr3:151046793C>T ENST00000325602.5 - 2 70 c.51G>A c.(49-51)gtG>gtA p.V17V MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron NM_176894.2 NP_795713.2 Q9BPV8 P2Y13_HUMAN purinergic receptor P2Y, G-protein coupled, 13 17 integral to membrane|plasma membrane biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 14 LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278) CTTCCAGTGTCACCTGTTACC 0.393000 43 77 0 0 1 0 0 MEP1B 4225 broad.mit.edu 37 18 29793102 29793102 + Missense_Mutation SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr18:29793102C>T ENST00000269202.6 + 11 1206 c.1159C>T c.(1159-1161)Ctt>Ttt p.L387F MEP1B_ENST00000581447.1_Missense_Mutation_p.L387F NM_005925.2 NP_005916.2 Q16820 MEP1B_HUMAN meprin A, beta 387 MAM. digestion|proteolysis extracellular space|integral to plasma membrane metalloendopeptidase activity|zinc ion binding cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 GAGCTGGCAACTTTATCATGT 0.393000 20 19 0 0 1 0 0 C6orf165 154313 broad.mit.edu 37 6 88119576 88119576 + Missense_Mutation SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr6:88119576G>A ENST00000507897.1 + 2 102 c.19G>A c.(19-21)Gaa>Aaa p.E7K C6ORF165_ENST00000369562.4_Missense_Mutation_p.E7K Q8IYR0 CF165_HUMAN chromosome 6 open reading frame 165 7 NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 19 all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575) BRCA - Breast invasive adenocarcinoma(108;0.0419) AACTCAGGCCGAAAGTGTTAT 0.333000 19 38 0 0 1 0 0 L3MBTL3 84456 broad.mit.edu 37 6 130376371 130376371 + Missense_Mutation SNP G G C TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr6:130376371G>C ENST00000529410.1 + 10 1117 c.638G>C c.(637-639)aGa>aCa p.R213T L3MBTL3_ENST00000361794.2_Missense_Mutation_p.R213T|L3MBTL3_ENST00000368139.2_Missense_Mutation_p.R188T|L3MBTL3_ENST00000533560.1_Missense_Mutation_p.R188T|L3MBTL3_ENST00000526019.1_Missense_Mutation_p.R188T|L3MBTL3_ENST00000368136.2_Missense_Mutation_p.R213T Q96JM7 LMBL3_HUMAN l(3)mbt-like 3 (Drosophila) 213 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1) 43 GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154) CGGAGGAAAAGACGAGGGGAT 0.383000 9 38 0 0 1 0 0 CTCF 10664 broad.mit.edu 37 16 67650756 67650756 + Missense_Mutation SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr16:67650756C>T ENST00000264010.4 + 5 1505 c.1061C>T c.(1060-1062)tCc>tTc p.S354F CTCF_ENST00000401394.1_Missense_Mutation_p.S26F NM_006565.3 NP_006556.1 P49711 CTCF_HUMAN CCCTC-binding factor (zinc finger protein) 354 chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding p.S354F(1) breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 79 Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577) TTCAAGTGTTCCATGTGCGAT 0.453000 95 156 0 0 1 0 0 DAPK1 1612 broad.mit.edu 37 9 90321664 90321664 + Silent SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr9:90321664G>A ENST00000469640.2 + 27 4128 c.3753G>A c.(3751-3753)acG>acA p.T1251T DAPK1_ENST00000472284.1_Silent_p.T1226T|DAPK1_ENST00000408954.3_Silent_p.T1226T|DAPK1_ENST00000358077.5_Silent_p.T1226T|DAPK1_ENST00000491893.1_Silent_p.T1160T P53355 DAPK1_HUMAN death-associated protein kinase 1 1226 apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade actin cytoskeleton|cytoplasm ATP binding|calmodulin binding|protein serine/threonine kinase activity p.T1226T(2)|p.T1227T(2) breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1) 72 TGGCCACCACGCTGCCAGGGC 0.627000 Chronic Lymphocytic Leukemia, Familial Clustering of 6 20 0 0 1 0 0 DNMT1 1786 broad.mit.edu 37 19 10270532 10270532 + Missense_Mutation SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr19:10270532G>A ENST00000340748.4 - 15 1343 c.1108C>T c.(1108-1110)Cac>Tac p.H370Y DNMT1_ENST00000359526.4_Missense_Mutation_p.H386Y|DNMT1_ENST00000540357.1_Missense_Mutation_p.H370Y P26358 DNMT1_HUMAN DNA (cytosine-5-)-methyltransferase 1 370 DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity). chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent nucleus DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1) 70 OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06) Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035) TCTGGTGGGTGCTGCCCATAT 0.602000 8 229 0 0 1 0 0 SLC9A2 6549 broad.mit.edu 37 2 103321010 103321010 + Missense_Mutation SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr2:103321010C>T ENST00000233969.2 + 10 1995 c.1853C>T c.(1852-1854)tCc>tTc p.S618F NM_003048.3 NP_003039.2 Q9UBY0 SL9A2_HUMAN solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2 618 integral to membrane|plasma membrane sodium:hydrogen antiporter activity breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 42 CAGACTTTATCCTACAACAGA 0.418000 16 47 0 0 1 0 0 TMEM109 79073 broad.mit.edu 37 11 60688430 60688430 + Missense_Mutation SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr11:60688430G>A ENST00000227525.3 + 3 713 c.310G>A c.(310-312)Gca>Aca p.A104T TMEM109_ENST00000536171.1_Missense_Mutation_p.A104T|RP11-881M11.4_ENST00000543907.1_RNA NM_024092.2 NP_076997.1 Q9BVC6 TM109_HUMAN transmembrane protein 109 104 integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1) 8 TGGGATCGCCGCACAGCTGCT 0.537000 5 126 0 0 1 0 0 LIPN 643418 broad.mit.edu 37 10 90528636 90528636 + Missense_Mutation SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr10:90528636C>T ENST00000404459.1 + 5 623 c.623C>T c.(622-624)cCc>cTc p.P208L NM_001102469.1 NP_001095939.1 Q5VXI9 LIPN_HUMAN lipase, family member N 208 lipid catabolic process extracellular region hydrolase activity endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1) 9 Colorectal(252;0.0161) Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05) TTCAAATATCCCACGGGCATT 0.403000 9 9 0 0 1 0 0 ETS2 2114 broad.mit.edu 37 21 40181971 40181971 + Missense_Mutation SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr21:40181971G>A ENST00000360214.3 + 3 473 c.13G>A c.(13-15)Gga>Aga p.G5R ETS2_ENST00000360938.3_Missense_Mutation_p.G5R NM_001256295.1 NP_001243224.1 P15036 ETS2_HUMAN v-ets avian erythroblastosis virus E26 oncogene homolog 2 5 positive regulation of transcription, DNA-dependent|skeletal system development nucleus protein binding|sequence-specific DNA binding transcription factor activity NS(1)|breast(2)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 18 Prostate(19;6.33e-08)|all_epithelial(19;0.123) GAATGATTTCGGAATCAAGAA 0.373000 4 16 0 0 1 0 0 OSGIN2 734 broad.mit.edu 37 8 90937310 90937310 + Silent SNP C C G TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr8:90937310C>G ENST00000451899.2 + 6 1460 c.1200C>G c.(1198-1200)gtC>gtG p.V400V OSGIN2_ENST00000297438.2_Silent_p.V356V NM_001126111.1 NP_001119583.1 Q9Y236 OSGI2_HUMAN oxidative stress induced growth inhibitor family member 2 356 germ cell development|meiosis breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(1) 17 BRCA - Breast invasive adenocarcinoma(11;0.0344) ATCATAAAGTCTATCATATGA 0.383000 35 102 0 0 1 0 0 FER1L6 654463 broad.mit.edu 37 8 125033801 125033801 + Silent SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr8:125033801C>T ENST00000522917.1 + 17 2231 c.2025C>T c.(2023-2025)tgC>tgT p.C675C FER1L6_ENST00000399018.1_Silent_p.C675C|FER1L6-AS1_ENST00000518567.1_RNA NM_001039112.2 NP_001034201.2 Q2WGJ9 FR1L6_HUMAN fer-1-like 6 (C. elegans) 675 integral to membrane NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1) 118 Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741) STAD - Stomach adenocarcinoma(47;0.00186) AAGCAATGTGCAAGGAGGCCA 0.453000 39 173 0 0 1 0 0 METTL3 56339 broad.mit.edu 37 14 21967215 21967215 + Missense_Mutation SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr14:21967215G>A ENST00000298717.4 - 10 1736 c.1585C>T c.(1585-1587)Cgc>Tgc p.R529C TOX4_ENST00000405508.1_3'UTR|TOX4_ENST00000262709.3_3'UTR NM_019852.3 NP_062826.2 Q86U44 MTA70_HUMAN methyltransferase like 3 529 gene expression nuclear speck mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1) 20 all_cancers(95;0.000628) Epithelial(56;6.61e-06) GBM - Glioblastoma multiforme(265;0.0146) TCAATCTTGCGAGTGCCAGGA 0.413000 27 34 0 0 1 0 0 NCKIPSD 51517 broad.mit.edu 37 3 48719141 48719141 + Missense_Mutation SNP T T A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr3:48719141T>A ENST00000294129.2 - 5 790 c.671A>T c.(670-672)gAc>gTc p.D224V NCKIPSD_ENST00000416649.2_Missense_Mutation_p.D217V|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.D224V NM_016453.2 NP_057537.1 Q9NZQ3 SPN90_HUMAN NCK interacting protein with SH3 domain 224 Pro-rich.|Ser/Thr-rich. cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction intermediate filament|nucleus cytoskeletal protein binding|SH3 domain binding endometrium(1)|large_intestine(3)|lung(6)|prostate(1) 11 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) ATAGAGCGTGTCCAGGGAGGT 0.647000 12 6 0 0 1 0 0 RPS24 6229 broad.mit.edu 37 10 79797023 79797023 + Missense_Mutation SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr10:79797023C>T ENST00000360830.4 + 4 370 c.351C>T c.(349-351)gtC>gtT p.117_117insV RPS24_ENST00000476545.1_3'UTR|RPS24_ENST00000440692.1_Silent_p.V117V|RPS24_ENST00000435275.1_Silent_p.V117V|RPS24_ENST00000372360.3_Silent_p.V117V P62847 RS24_HUMAN ribosomal protein S24 0 endocrine pancreas development|erythrocyte homeostasis|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription cytosolic small ribosomal subunit|nucleolus nucleotide binding|structural constituent of ribosome|translation initiation factor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1) 5 all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095) Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428) TGAAGAAAGTCAGGGGGACTG 0.398000 3 2 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7578508 7578508 + Missense_Mutation SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr17:7578508C>T ENST00000420246.2 - 5 554 c.422G>A c.(421-423)tGc>tAc p.C141Y TP53_ENST00000269305.4_Missense_Mutation_p.C141Y|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y|TP53_ENST00000413465.2_Missense_Mutation_p.C141Y|TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 141 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in LFS; germline mutation and 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.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(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) CTGCACAGGGCAGGTCTTGGC 0.572000 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) 22 12 0 0 1 0 0 RIMBP2 23504 broad.mit.edu 37 12 130927081 130927081 + Silent SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr12:130927081G>A ENST00000261655.4 - 8 928 c.765C>T c.(763-765)tcC>tcT p.S255S RIMBP2_ENST00000535703.1_Silent_p.S163S|RIMBP2_ENST00000536002.1_Silent_p.S163S NM_015347.4 NP_056162.4 O15034 RIMB2_HUMAN RIMS binding protein 2 255 cell junction|synapse NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1) 96 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.213) OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05) GGCCGATGCCGGAATGGTTGA 0.597000 4 107 0 0 1 0 0 MYO6 4646 broad.mit.edu 37 6 76572371 76572371 + Silent SNP T T G TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr6:76572371T>G ENST00000369981.3 + 16 1884 c.1605T>G c.(1603-1605)ctT>ctG p.L535L MYO6_ENST00000369985.4_Silent_p.L535L|MYO6_ENST00000369975.1_Silent_p.L535L|MYO6_ENST00000369977.3_Silent_p.L535L Q9UM54 MYO6_HUMAN myosin VI 535 Myosin head-like. actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 all_hematologic(105;0.189) BRCA - Breast invasive adenocarcinoma(397;0.223) AAAATCGCCTTCCCCAGCCAA 0.353000 24 13 0 0 1 0 0 PHIP 55023 broad.mit.edu 37 6 79655040 79655040 + Missense_Mutation SNP T T G TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr6:79655040T>G ENST00000275034.4 - 39 4972 c.4805A>C c.(4804-4806)aAg>aCg p.K1602T PHIP_ENST00000479165.1_5'UTR NM_017934.5 NP_060404.3 Q8WWQ0 PHIP_HUMAN pleckstrin homology domain interacting protein 1602 insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis nucleus insulin receptor binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3) 68 all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219) BRCA - Breast invasive adenocarcinoma(397;0.231) AGCTGATGACTTTGAAAGAGT 0.358000 34 68 0 0 1 0 0 SHROOM3 57619 broad.mit.edu 37 4 77661336 77661336 + Missense_Mutation SNP G G C TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr4:77661336G>C ENST00000296043.6 + 5 2963 c.2010G>C c.(2008-2010)gaG>gaC p.E670D NM_020859.3 NP_065910.3 Q8TF72 SHRM3_HUMAN shroom family member 3 670 apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule actin binding NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1) 60 Lung(101;0.0903) ACATTCCTGAGAGTCTGAGAA 0.597000 55 85 0 0 1 0 0 IFI44L 10964 broad.mit.edu 37 1 79107493 79107493 + Nonstop_Mutation SNP G G C TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr1:79107493G>C ENST00000370751.4 + 9 1537 c.1358G>C c.(1357-1359)tGa>tCa p.*453S IFI44L_ENST00000342282.3_Nonstop_Mutation_p.*195S|IFI44L_ENST00000476521.1_3'UTR NM_006820.2 NP_006811.2 Q53G44 IF44L_HUMAN interferon-induced protein 44-like 0 cytoplasm endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1) 22 CCCTGCATTTGAGATAAGTTG 0.428000 44 83 0 0 1 0 0 DOCK5 80005 broad.mit.edu 37 8 25226143 25226143 + Missense_Mutation SNP C C G TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr8:25226143C>G ENST00000276440.7 + 33 3384 c.3340C>G c.(3340-3342)Ctg>Gtg p.L1114V NM_024940.6 NP_079216.4 Q9H7D0 DOCK5_HUMAN dedicator of cytokinesis 5 1114 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 72 all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143) UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828) GGAGGTCACTCTGACCCCTGA 0.408000 20 15 0 0 1 0 0 LDLR 3949 broad.mit.edu 37 19 11231182 11231182 + Missense_Mutation SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr19:11231182G>A ENST00000558518.1 + 14 2311 c.2124G>A c.(2122-2124)atG>atA p.M708I LDLR_ENST00000455727.2_Missense_Mutation_p.M540I|LDLR_ENST00000557933.1_Missense_Mutation_p.M708I|LDLR_ENST00000558013.1_Missense_Mutation_p.M708I|LDLR_ENST00000545707.1_Intron|LDLR_ENST00000535915.1_Missense_Mutation_p.M667I NM_000527.4|NM_001195798.1 NP_000518.1|NP_001182727.1 P01130 LDLR_HUMAN low density lipoprotein receptor 708 EGF-like 3. cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity p.?(1) breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524) GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197) Methyl aminolevulinate(DB00992)|Porfimer(DB00707) CCAGGGACATGAGGAGCTGCC 0.627000 23 28 0 0 1 0 0 OR5D14 219436 broad.mit.edu 37 11 55563188 55563188 + Missense_Mutation SNP A A G TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr11:55563188A>G ENST00000335605.1 + 1 157 c.157A>G c.(157-159)Att>Gtt p.I53V NM_001004735.1 NP_001004735.1 Q8NGL3 OR5DE_HUMAN olfactory receptor, family 5, subfamily D, member 14 53 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1) 48 all_epithelial(135;0.196) AATAATCAAGATTAACCCCAA 0.388000 17 51 0 0 1 0 0 MCM10 55388 broad.mit.edu 37 10 13213057 13213057 + Missense_Mutation SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr10:13213057C>T ENST00000378694.1 + 2 218 c.143C>T c.(142-144)gCc>gTc p.A48V MCM10_ENST00000378714.3_Missense_Mutation_p.A48V|MCM10_ENST00000484800.2_Missense_Mutation_p.A48V Q7L590 MCM10_HUMAN minichromosome maintenance complex component 10 48 cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle nucleoplasm metal ion binding|protein binding central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1) 9 CTCTTTGATGCCGACGGCGAC 0.458000 5 128 0 0 1 0 0 IGJ 3512 broad.mit.edu 37 4 71522211 71522211 + Silent SNP T T A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr4:71522211T>A ENST00000254801.4 - 4 484 c.315A>T c.(313-315)atA>atT p.I105I IGJ_ENST00000543780.1_Silent_p.I121I|ENAM_ENST00000472903.1_Intron NM_144646.3 NP_653247.1 P01591 IGJ_HUMAN immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides 105 immune response extracellular region antigen binding endometrium(1)|kidney(1)|large_intestine(2)|lung(3) 7 Lung(101;0.235) TAGCAGTAACTATCTGATTAT 0.418000 14 26 0 0 1 0 0 SLC10A4 201780 broad.mit.edu 37 4 48490503 48490503 + Missense_Mutation SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr4:48490503G>A ENST00000273861.4 + 3 1080 c.861G>A c.(859-861)atG>atA p.M287I NM_152679.3 NP_689892.1 Q96EP9 NTCP4_HUMAN solute carrier family 10, member 4 287 integral to membrane bile acid:sodium symporter activity central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1) 6 CCGGCACTATGTTAGGACCTG 0.433000 50 80 0 0 1 0 0 OTUD7B 56957 broad.mit.edu 37 1 149916210 149916210 + Missense_Mutation SNP G G C TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr1:149916210G>C ENST00000369135.3 - 12 2372 c.2078C>G c.(2077-2079)cCt>cGt p.P693R NM_020205.2 NP_064590.2 Q6GQQ9 OTU7B_HUMAN OTU domain containing 7B 693 negative regulation of I-kappaB kinase/NF-kappaB cascade cytoplasm|microtubule cytoskeleton|nucleus cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 39 Breast(34;0.0009)|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)|STAD - Stomach adenocarcinoma(528;0.247) AAAGTCCCCAGGGTAGCCAGT 0.647000 52 25 0 0 1 0 0 NEK5 341676 broad.mit.edu 37 13 52684525 52684525 + Missense_Mutation SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr13:52684525C>T ENST00000355568.4 - 7 557 c.418G>A c.(418-420)Gga>Aga p.G140R NM_199289.1 NP_954983.1 Q6P3R8 NEK5_HUMAN NIMA-related kinase 5 140 Protein kinase. ATP binding|metal ion binding|protein serine/threonine kinase activity breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 39 Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236) GBM - Glioblastoma multiforme(99;3.7e-08) GCCACCATTCCGTTCTTGCTA 0.353000 27 32 0 0 1 0 0 SENP2 59343 broad.mit.edu 37 3 185332487 185332487 + Missense_Mutation SNP G G C TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr3:185332487G>C ENST00000296257.5 + 11 1309 c.1069G>C c.(1069-1071)Gag>Cag p.E357Q SENP2_ENST00000545472.1_Missense_Mutation_p.E347Q|SENP2_ENST00000427465.2_Missense_Mutation_p.E181Q NM_021627.2 NP_067640.2 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific peptidase 2 357 mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3) 12 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) CTCAGGCAAAGAGAGGGACAG 0.438000 18 36 0 0 1 0 0 RIOK2 55781 broad.mit.edu 37 5 96503372 96503372 + Missense_Mutation SNP G G T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr5:96503372G>T ENST00000283109.3 - 8 1264 c.1196C>A c.(1195-1197)gCt>gAt p.A399D CTD-2215E18.1_ENST00000509481.1_Intron|RIOK2_ENST00000508447.1_Missense_Mutation_p.A399D NM_018343.2 NP_060813.2 Q9BVS4 RIOK2_HUMAN RIO kinase 2 399 Protein kinase. ATP binding|protein serine/threonine kinase activity breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2) 23 all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105) COAD - Colon adenocarcinoma(37;0.0657) TTCTTCTAAAGCTTGATTGAA 0.373000 33 13 1.30897e-18 1.36651e-18 1 1 0 DCHS1 8642 broad.mit.edu 37 11 6645063 6645063 + Missense_Mutation SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr11:6645063G>A ENST00000299441.3 - 21 8255 c.7844C>T c.(7843-7845)aCa>aTa p.T2615I NM_003737.2 NP_003728.1 Q96JQ0 PCD16_HUMAN dachsous cadherin-related 1 2615 Cadherin 25. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 103 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135) TCCAACAGGTGTGTCCTCAGG 0.567000 32 139 0 0 1 0 0 ADCK3 56997 broad.mit.edu 37 1 227149148 227149148 + Missense_Mutation SNP C C T rs142184584 TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr1:227149148C>T ENST00000366779.1 + 7 2833 c.62C>T c.(61-63)gCg>gTg p.A21V ADCK3_ENST00000366778.1_Intron|ADCK3_ENST00000458507.2_Intron|ADCK3_ENST00000366777.3_Missense_Mutation_p.A21V|ADCK3_ENST00000478406.1_Intron|ADCK3_ENST00000366776.1_Missense_Mutation_p.A21V|ADCK3_ENST00000366775.1_5'UTR Q8NI60 ADCK3_HUMAN aarF domain containing kinase 3 21 cell death mitochondrion ATP binding|protein serine/threonine kinase activity endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2) 9 CTGACCCAGGCGGCCGTGGAA 0.617000 50 15 0 0 1 0 0 FRG1BP 284802 broad.mit.edu 37 20 29625877 29625877 + Missense_Mutation SNP G G A rs7266938 by1000genomes TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr20:29625877G>A ENST00000278882.3 + 5 501 c.121G>A c.(121-123)Gcc>Acc p.A41T FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T p.A41T(2) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 GTACAGAATCGCCCTGAAATC 0.358000 4 61 0 0 1 0 0 WDR72 256764 broad.mit.edu 37 15 53889440 53889440 + Missense_Mutation SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr15:53889440G>A ENST00000396328.1 - 18 3223 c.2984C>T c.(2983-2985)gCg>gTg p.A995V WDR72_ENST00000557913.1_Missense_Mutation_p.A992V|WDR72_ENST00000559418.1_Missense_Mutation_p.A1005V|WDR72_ENST00000360509.5_Missense_Mutation_p.A995V NM_001277176.1|NM_182758.2 NP_001264105.1|NP_877435.3 Q3MJ13 WDR72_HUMAN WD repeat domain 72 995 NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 71 all cancers(107;0.0511) TTGAACTTCCGCCAAGAGAAC 0.373000 44 96 0 0 1 0 0 AKAP17A 8227 broad.mit.edu 37 X 1712669 1712669 + Missense_Mutation SNP G G C TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chrX:1712669G>C ENST00000313871.3 + 2 510 c.314G>C c.(313-315)gGc>gCc p.G105A AKAP17A_ENST00000381261.3_Missense_Mutation_p.G105A NM_005088.2 NP_005079.2 Q02040 AK17A_HUMAN A kinase (PRKA) anchor protein 17A 105 PKA-RI and PKA-RII subunit binding domain. B cell activation|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|signal transduction nuclear speck|spliceosomal complex nucleotide binding|protein binding|RNA binding breast(2)|endometrium(5)|kidney(3)|large_intestine(1)|lung(12)|prostate(3) 26 AAGCTCAGCGGCTTCTCCGAC 0.602000 87 131 0 0 1 0 0 KRTAP4-9 100132386 broad.mit.edu 37 17 39261693 39261693 + Missense_Mutation SNP A A T rs113059833 by1000genomes TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr17:39261693A>T ENST00000391415.1 + 1 110 c.53A>T c.(52-54)gAc>gTc p.D18V NM_001146041.1 NP_001139513.1 Q9BYQ8 KRA49_HUMAN keratin associated protein 4-9 18 keratin filament p.D18V(1) central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3) 14 TGCGGCCAAGACCTCTGTCAG 0.627000 4 57 0 0 1 0 0 TMEM132E 124842 broad.mit.edu 37 17 32959825 32959825 + Missense_Mutation SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr17:32959825G>A ENST00000321639.5 + 7 1643 c.1315G>A c.(1315-1317)Gaa>Aaa p.E439K NM_207313.1 NP_997196.1 Q6IEE7 T132E_HUMAN transmembrane protein 132E 439 integral to membrane breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 57 BRCA - Breast invasive adenocarcinoma(366;0.231) TGCTCCCCTGGAAATGACAGT 0.582000 91 133 0 0 1 0 0 CACYBP 27101 broad.mit.edu 37 1 174979205 174979205 + Missense_Mutation SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr1:174979205C>T ENST00000367681.2 + 6 1188 c.548C>T c.(547-549)aCg>aTg p.T183M CACYBP_ENST00000367679.2_Missense_Mutation_p.T226M|CACYBP_ENST00000405362.1_Missense_Mutation_p.T183M NM_001007214.1 NP_001007215.1 Q9HB71 CYBP_HUMAN calcyclin binding protein 226 Interaction with S100A6 (By similarity).|Interaction with SKP1.|SGS. T -> P (in Ref. 4; AAG23817). beta-catenin destruction complex protein homodimerization activity NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1) 11 AAAGGAGACACGGAATTTTGA 0.368000 19 49 0 0 1 0 0 DDX3X 1654 broad.mit.edu 37 X 41203625 41203625 + Missense_Mutation SNP G G C TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chrX:41203625G>C ENST00000399959.2 + 10 1853 c.998G>C c.(997-999)aGa>aCa p.R333T DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.R317T NM_001193416.1|NM_001193417.1|NM_001356.3 NP_001180345.1|NP_001180346.1|NP_001347.3 O00571 DDX3X_HUMAN DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked 333 Helicase ATP-binding.|Necessary for interaction with XPO1. interspecies interaction between organisms cytoplasm|nuclear speck ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1) 84 ATGATGGAAAGAGGAAAGATT 0.383000 HNSCC(61;0.18) 61 46 0 0 1 0 0 RNF103 7844 broad.mit.edu 37 2 86831499 86831499 + Missense_Mutation SNP T T C TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr2:86831499T>C ENST00000237455.4 - 4 2493 c.1525A>G c.(1525-1527)Att>Gtt p.I509V RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000424788.1_RNA NM_001198951.1|NM_005667.3 NP_001185880.1|NP_005658.1 O00237 RN103_HUMAN ring finger protein 103 509 central nervous system development|ER-associated protein catabolic process endoplasmic reticulum membrane|integral to membrane protein binding|ubiquitin-protein ligase activity|zinc ion binding central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2) 25 AAGTTTTTAATATAATCAGTT 0.433000 60 102 0 0 1 0 0 CYP3A7 1551 broad.mit.edu 37 7 99308496 99308496 + Silent SNP G G C TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr7:99308496G>C ENST00000336374.2 - 10 887 c.885C>G c.(883-885)ctC>ctG p.L295L NM_000765.3 NP_000756.2 P24462 CP3A7_HUMAN cytochrome P450, family 3, subfamily A, polypeptide 7 295 xenobiotic metabolic process endoplasmic reticulum membrane|microsome aromatase activity|electron carrier activity|heme binding|oxygen binding autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1) 32 Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228) ATTGGGCCATGAGCTCCAGAT 0.413000 23 40 0 0 1 0 0 FLNB 2317 broad.mit.edu 37 3 58062871 58062871 + Nonsense_Mutation SNP G G T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr3:58062871G>T ENST00000357272.4 + 2 556 c.391G>T c.(391-393)Gaa>Taa p.E131* FLNB_ENST00000490882.1_Nonsense_Mutation_p.E131*|FLNB_ENST00000295956.4_Nonsense_Mutation_p.E131*|FLNB_ENST00000358537.3_Nonsense_Mutation_p.E131*|FLNB_ENST00000429972.2_Nonsense_Mutation_p.E131*|FLNB_ENST00000348383.5_Nonsense_Mutation_p.E131* O75369 FLNB_HUMAN filamin B, beta 131 Actin-binding. actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction cell cortex|integral to membrane|nucleus|sarcomere actin binding NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5) 120 BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898) GTGGGAGGATGAAGGGGATGA 0.527000 48 20 2.64894e-19 2.79611e-19 1 1 0 AQP7 364 broad.mit.edu 37 9 33385614 33385614 + Missense_Mutation SNP A A T rs140995428 by1000genomes TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr9:33385614A>T ENST00000541274.1 - 5 830 c.381T>A c.(379-381)agT>agA p.S127R AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000377425.4_Intron O14520 AQP7_HUMAN aquaporin 7 0 excretion|generation of precursor metabolites and energy cell-cell junction|cytoplasm|integral to plasma membrane glycerol channel activity|water channel activity NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1) 17 LUSC - Lung squamous cell carcinoma(29;0.00788) GBM - Glioblastoma multiforme(74;0.191) CCACAGAAAAACTCAAAGGAA 0.632000 4 69 0 0 1 0 0 SLCO3A1 28232 broad.mit.edu 37 15 92671628 92671628 + Missense_Mutation SNP A A C TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr15:92671628A>C ENST00000318445.6 + 7 1635 c.1421A>C c.(1420-1422)aAc>aCc p.N474T SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.N474T NM_013272.3 NP_037404.2 Q9UIG8 SO3A1_HUMAN solute carrier organic anion transporter family, member 3A1 474 Kazal-like. sodium-independent organic anion transport integral to membrane|plasma membrane sodium-independent organic anion transmembrane transporter activity breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2) 25 Lung NSC(78;0.0158)|all_lung(78;0.0255) BRCA - Breast invasive adenocarcinoma(143;0.0841) TGCAATAATAACTGTGAATGC 0.522000 30 139 0 0 1 0 0 SCRT1 83482 broad.mit.edu 37 8 145559793 145559793 + Silent SNP G G A TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr8:145559793G>A ENST00000332135.4 - 1 150 c.39C>T c.(37-39)gaC>gaT p.D13D NM_031309.4 NP_112599.1 Q9BWW7 SCRT1_HUMAN scratch family zinc finger 1 13 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(2)|upper_aerodigestive_tract(1) 3 all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155) OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055) AAGAGAACGCGTCAAGTTTGA 0.692000 8 30 0 0 1 0 0 TMEM151A 256472 broad.mit.edu 37 11 66062449 66062449 + Silent SNP C C T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr11:66062449C>T ENST00000327259.4 + 2 876 c.732C>T c.(730-732)agC>agT p.S244S NM_153266.3 NP_694998.1 Q8N4L1 T151A_HUMAN transmembrane protein 151A 244 integral to membrane central_nervous_system(1)|kidney(4)|lung(6) 11 GCTTCTTCAGCGCCAACGAGG 0.687000 5 14 0 0 1 0 0 LOC100294341 100294341 broad.mit.edu 37 17 43587569 43587569 + RNA SNP G G C rs149697015 by1000genomes TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr17:43587569G>C ENST00000253803.2 + 0 267 LRRC37A4P_ENST00000579913.1_RNA aactccgtctgaaaagaaaag 0.443000 4 24 0 0 1 0 0 ZBTB22 9278 broad.mit.edu 37 6 33283609 33283609 + Missense_Mutation SNP C C T rs147840428 by1000genomes TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr6:33283609C>T ENST00000431845.2 - 2 1236 c.1085G>A c.(1084-1086)cGt>cAt p.R362H ZBTB22_ENST00000418724.1_Missense_Mutation_p.R362H NM_005453.4 NP_005444.4 O15209 ZBT22_HUMAN zinc finger and BTB domain containing 22 362 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(3) 21 ACTCAGGGTACGGACATCACT 0.577000 57 76 0 0 1 0 0 FERD3L 222894 broad.mit.edu 37 7 19184842 19184842 + Missense_Mutation SNP C C G TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr7:19184842C>G ENST00000275461.3 - 1 202 c.144G>C c.(142-144)gaG>gaC p.E48D AC003986.5_ENST00000452700.1_RNA NM_152898.2 NP_690862.1 Q96RJ6 FER3L_HUMAN Fer3-like bHLH transcription factor 48 negative regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 35 TGGGTCTTCCCTCTCGGAGCG 0.657000 70 39 0 0 1 0 0 PHACTR4 65979 broad.mit.edu 37 1 28800272 28800273 + Frame_Shift_Ins INS - - C TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr1:28800272_28800273insC ENST00000373839.3 + 7 1291_1292 c.1030_1031insC c.(1030-1032)cccfs p.P344fs PHACTR4_ENST00000493669.1_3'UTR|PHACTR4_ENST00000373836.3_Frame_Shift_Ins_p.P354fs NM_001048183.1 NP_001041648.1 Q8IZ21 PHAR4_HUMAN phosphatase and actin regulator 4 344 Pro-rich. actin binding|protein phosphatase inhibitor activity p.P356fs*33(1) NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1) 32 Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261) OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649) TCGCTCTCCGTCCCCCCCACTG 0.515 8 256 --- --- --- --- TNS1 7145 broad.mit.edu 37 2 218712887 218712889 + In_Frame_Del DEL GCT GCT - TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr2:218712887_218712889delGCT ENST00000171887.4 - 17 2428_2430 c.1976_1978delAGC c.(1975-1980)cct>c p.QP659del TNS1_ENST00000419504.1_In_Frame_Del_p.QP659del|TNS1_ENST00000430930.1_In_Frame_Del_p.QP659del NM_022648.4 NP_072174.3 Q9HBL0 TENS1_HUMAN tensin 1 659 Gln-rich. cytoplasm|cytoskeleton|focal adhesion actin binding breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 79 Renal(207;0.0483)|Lung NSC(271;0.213) Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013) GGTGGGCGAGgctgctgctgctg 0.660 7 27 --- --- --- --- HDAC2 3066 broad.mit.edu 37 6 114262884 114262885 + Frame_Shift_Ins INS - - T TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr6:114262884_114262885insT ENST00000519065.1 - 13 1799_1800 c.1423_1424insA c.(1423-1425)agafs p.R475fs HDAC2_ENST00000398283.2_Frame_Shift_Ins_p.R569fs|HDAC2_ENST00000519108.1_Frame_Shift_Ins_p.R445fs|HDAC2_ENST00000368632.2_Frame_Shift_Ins_p.R445fs Q92769 HDAC2_HUMAN histone deacetylase 2 475 blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2) 27 all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24) all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832) Vorinostat(DB02546) TTTGGTATCTGTTTTTTCACCA 0.282 7 14 --- --- --- --- CHRNA3 1136 broad.mit.edu 37 15 78913068 78913070 + In_Frame_Del DEL CAG CAG - rs72025661 TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr15:78913068_78913070delCAG ENST00000326828.5 - 1 451_453 c.67_69delCTG c.(67-69)del p.L23del CHRNA3_ENST00000348639.3_In_Frame_Del_p.L23del NM_000743.4 NP_000734.2 P32297 ACHA3_HUMAN cholinergic receptor, nicotinic, alpha 3 (neuronal) 23 Missing. activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 gcagcagagacagcagcagcagc 0.768 4 3 --- --- --- --- MKL1 57591 broad.mit.edu 37 22 40816887 40816889 + In_Frame_Del DEL TGC TGC - TCGA-QK-A6IH-01A-11D-A31L-08 TCGA-QK-A6IH-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4a12f44d-7d6c-4480-9ffa-c80356f78232 30897199-87f7-452c-ab03-987cbd2c50e7 g.chr22:40816887_40816889delTGC ENST00000396617.3 - 10 1433_1435 c.843_845delGCA c.(841-846)cac>ca p.QH281del MKL1_ENST00000407029.1_In_Frame_Del_p.QH281del|MKL1_ENST00000402042.1_In_Frame_Del_p.QH231del|MKL1_ENST00000355630.3_In_Frame_Del_p.QH281del Q969V6 MKL1_HUMAN megakaryoblastic leukemia (translocation) 1 281 Gln-rich. positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent cytoplasm|nucleus actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1) 30 GTAGTTGTGGTGCTGCTGCTGCT 0.660 T RBM15 acute megakaryocytic leukemia 7 76 --- --- --- ---