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 CFHR2 3080 broad.mit.edu 37 1 196928040 196928040 + Nonsense_Mutation SNP G G T TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr1:196928040G>T ENST00000367415.5 + 5 743 c.643G>T c.(643-645)Gaa>Taa p.E215* CFHR2_ENST00000476712.2_Nonsense_Mutation_p.E199*|CFHR2_ENST00000496448.1_3'UTR|CFHR2_ENST00000367421.3_Nonsense_Mutation_p.E215* NM_005666.2 NP_005657.1 P36980 FHR2_HUMAN complement factor H-related 2 Sushi 4. extracellular region large_intestine(2)|ovary(1)|skin(3) 6 AGAAATTATGGAAAAATATAA 0.284 9 45 --- --- --- --- FGB 2244 broad.mit.edu 37 4 155490938 155490938 + Missense_Mutation SNP G G T TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr4:155490938G>T ENST00000302068.4 + 7 1294 c.1231G>T c.(1231-1233)Gac>Tac p.D411Y FGB_ENST00000509493.1_Missense_Mutation_p.D192Y|FGB_ENST00000502545.1_Intron NM_005141.4 NP_005132.2 P02675 FIBB_HUMAN fibrinogen beta chain 411 Fibrinogen C-terminal. platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 34 all_hematologic(180;0.215) Renal(120;0.0458) Sucralfate(DB00364) GTATGACAGAGACAATGACGG 0.428 14 58 --- --- --- --- MAP1B 4131 broad.mit.edu 37 5 71492635 71492635 + Silent SNP G G A TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr5:71492635G>A ENST00000296755.7 + 5 3751 c.3453G>A c.(3451-3453)gaG>gaA p.E1151E NM_005909.3 NP_005900.2 P46821 MAP1B_HUMAN microtubule-associated protein 1B 1151 microtubule|microtubule associated complex structural molecule activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3) 104 Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198) OV - Ovarian serous cystadenocarcinoma(47;7.99e-54) ACAATGAAGAGACGGAGTCCC 0.453 4 39 --- --- --- --- ANXA6 309 broad.mit.edu 37 5 150510817 150510817 + Missense_Mutation SNP G G T TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr5:150510817G>T ENST00000354546.5 - 11 997 c.770C>A c.(769-771)gCt>gAt p.A257D ANXA6_ENST00000356496.5_Missense_Mutation_p.A257D|ANXA6_ENST00000521512.1_Intron|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000523714.1_Missense_Mutation_p.A225D NM_001155.4 NP_001146.2 P08133 ANXA6_HUMAN annexin A6 257 melanosome calcium ion binding|calcium-dependent phospholipid binding|protein binding endometrium(2)|kidney(1)|lung(9) 12 Medulloblastoma(196;0.0912)|all_hematologic(541;0.208) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) GAGCCTTTCAGCAAAATATTC 0.527 4 136 --- --- --- --- FGD2 221472 broad.mit.edu 37 6 36993603 36993603 + Silent SNP A A G TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr6:36993603A>G ENST00000274963.8 + 14 1665 c.1494A>G c.(1492-1494)gaA>gaG p.E498E NM_173558.3 NP_775829.2 Q7Z6J4 FGD2_HUMAN FYVE, RhoGEF and PH domain containing 2 498 actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1) 25 ACCGGGCCGAACTGAAATACG 0.622 6 48 --- --- --- --- CLN8 2055 broad.mit.edu 37 8 1728426 1728426 + Missense_Mutation SNP C C G TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr8:1728426C>G ENST00000331222.4 + 3 801 c.554C>G c.(553-555)tCc>tGc p.S185C CLN8_ENST00000523237.1_3'UTR NM_018941.3 NP_061764.2 Q9UBY8 CLN8_HUMAN ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation) 185 TLC. cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 24 Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831) BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913) GCGGGCTGGTCCGAGTCTCTG 0.463 13 59 --- --- --- --- CSMD1 64478 broad.mit.edu 37 8 2886875 2886875 + Silent SNP C C T TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr8:2886875C>T ENST00000602557.1 - 52 8379 c.7824G>A c.(7822-7824)acG>acA p.T2608T CSMD1_ENST00000542608.1_Silent_p.T2607T|CSMD1_ENST00000520002.1_Silent_p.T2608T|CSMD1_ENST00000602723.1_Silent_p.T2608T|CSMD1_ENST00000537824.1_Silent_p.T2607T|CSMD1_ENST00000400186.3_Silent_p.T2608T Q96PZ7 CSMD1_HUMAN CUB and Sushi multiple domains 1 2608 Sushi 16. 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) CTATGTTCCACGTCCCATTGG 0.522 10 36 --- --- --- --- CDCA2 157313 broad.mit.edu 37 8 25340925 25340925 + Missense_Mutation SNP A A T TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr8:25340925A>T ENST00000330560.3 + 9 1520 c.1043A>T c.(1042-1044)aAc>aTc p.N348I CDCA2_ENST00000380665.3_Missense_Mutation_p.N333I|CDCA2_ENST00000521098.2_3'UTR NM_152562.2 NP_689775.2 Q69YH5 CDCA2_HUMAN cell division cycle associated 2 348 cell division|mitosis cytoplasm|nucleus breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3) 35 all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191) UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443) GAACACTGTAACAACCTCTAT 0.323 31 60 --- --- --- --- NBN 4683 broad.mit.edu 37 8 90965618 90965618 + Missense_Mutation SNP A A G TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr8:90965618A>G ENST00000265433.3 - 11 1853 c.1699T>C c.(1699-1701)Ttc>Ctc p.F567L NBN_ENST00000409330.1_Missense_Mutation_p.F485L NM_002485.4 NP_002476.2 O60934 NBN_HUMAN nibrin 567 cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm protein N-terminus binding|transcription factor binding autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 27 BRCA - Breast invasive adenocarcinoma(11;0.0344) GTGTCCTTGAATAACTGTTCC 0.348 Homologous recombination 17 133 --- --- --- --- CTNNAL1 8727 broad.mit.edu 37 9 111714527 111714527 + Missense_Mutation SNP G G C TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr9:111714527G>C ENST00000374595.4 - 14 1876 c.1797C>G c.(1795-1797)aaC>aaG p.N599K CTNNAL1_ENST00000374594.1_5'UTR|CTNNAL1_ENST00000325580.6_Missense_Mutation_p.N515K|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.N599K Q9UBT7 CTNL1_HUMAN catenin (cadherin-associated protein), alpha-like 1 599 cell adhesion|Rho protein signal transduction actin cytoskeleton|cytosol|plasma membrane cadherin binding|structural molecule activity cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2) 25 STAD - Stomach adenocarcinoma(157;0.0768) TACTGGACATGTTCCGTCCAT 0.358 24 53 --- --- --- --- KRT6C 286887 broad.mit.edu 37 12 52865005 52865005 + Missense_Mutation SNP G G T TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr12:52865005G>T ENST00000252250.6 - 5 1035 c.988C>A c.(988-990)Ctg>Atg p.L330M NM_173086.4 NP_775109.2 P48668 K2C6C_HUMAN keratin 6C 330 Linker 12.|Rod. cytoskeleton organization keratin filament structural molecule activity cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2) 23 BRCA - Breast invasive adenocarcinoma(357;0.0828) ATGCTGTCCAGGTCCAGGTTG 0.562 4 159 --- --- --- --- POC1B 282809 broad.mit.edu 37 12 89885713 89885713 + Splice_Site SNP T T G TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr12:89885713T>G ENST00000393179.4 - 2 675 c.62A>C c.(61-63)aAa>aCa p.K21T POC1B_ENST00000378528.2_Splice_Site_p.K21T|POC1B_ENST00000313546.3_Splice_Site_p.K151T|POC1B_ENST00000541909.1_Splice_Site_p.K21T|POC1B_ENST00000549035.1_Splice_Site_p.K109T|POC1B_ENST00000549504.1_Splice_Site_p.K21T POC1 centriolar protein B endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1) 14 TTGCACTTACTTGGCACAGCG 0.403 19 100 --- --- --- --- COQ5 84274 broad.mit.edu 37 12 120966916 120966916 + Nonsense_Mutation SNP C C T TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr12:120966916C>T ENST00000288532.6 - 1 69 c.29G>A c.(28-30)tGg>tAg p.W10* COQ5_ENST00000445328.2_Nonsense_Mutation_p.W10* NM_032314.3 NP_115690.3 Q5HYK3 COQ5_HUMAN coenzyme Q5 homolog, methyltransferase (S. cerevisiae) 10 ubiquinone biosynthetic process mitochondrion methyltransferase activity breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3) 20 all_neural(191;0.0804)|Medulloblastoma(191;0.0922) GCAATAGCTCCATAGAGCACA 0.662 5 22 --- --- --- --- ALG5 29880 broad.mit.edu 37 13 37567800 37567800 + Missense_Mutation SNP G G A TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr13:37567800G>A ENST00000239891.3 - 4 361 c.295C>T c.(295-297)Cct>Tct p.P99S ALG5_ENST00000413537.2_Missense_Mutation_p.P99S|ALG5_ENST00000496689.1_5'UTR|ALG5_ENST00000443765.1_Intron NM_013338.4 NP_037470.1 Q9Y673 ALG5_HUMAN ALG5, dolichyl-phosphate beta-glucosyltransferase 99 dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine endoplasmic reticulum membrane|integral to membrane dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1) 11 Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174) all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472) GTGAACGCAGGATCTCGTTTC 0.313 7 117 --- --- --- --- TOX4 9878 broad.mit.edu 37 14 21955847 21955847 + Missense_Mutation SNP A A G TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr14:21955847A>G ENST00000405508.1 + 4 589 c.313A>G c.(313-315)Acc>Gcc p.T105A TOX4_ENST00000262709.3_Missense_Mutation_p.T105A|TOX4_ENST00000494242.1_3'UTR|TOX4_ENST00000448790.2_Missense_Mutation_p.T82A O94842 TOX4_HUMAN TOX high mobility group box family member 4 105 chromatin|nucleus|PTW/PP1 phosphatase complex DNA binding|protein binding large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(95;0.000465) Epithelial(56;6.61e-06)|all cancers(55;5.15e-05) GBM - Glioblastoma multiforme(265;0.0149) TGGGGGCTTGACCATGGTAAG 0.547 21 56 --- --- --- --- CORO2B 10391 broad.mit.edu 37 15 69011503 69011503 + Missense_Mutation SNP C C G TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr15:69011503C>G ENST00000543950.1 + 10 1440 c.1086C>G c.(1084-1086)gaC>gaG p.D362E CORO2B_ENST00000261861.5_Missense_Mutation_p.D362E|CORO2B_ENST00000566799.1_Missense_Mutation_p.D367E|CORO2B_ENST00000540068.1_Missense_Mutation_p.D362E NM_001190457.1 NP_001177386.1 Q9UQ03 COR2B_HUMAN coronin, actin binding protein, 2B 367 actin cytoskeleton organization actin cytoskeleton|cytoplasm|membrane actin filament binding kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3) 36 ACCAGGAAGACATTTACCCAA 0.572 8 90 --- --- --- --- CHD3 1107 broad.mit.edu 37 17 7804250 7804250 + Missense_Mutation SNP A A G TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr17:7804250A>G ENST00000380358.4 + 19 3237 c.3236A>G c.(3235-3237)aAt>aGt p.N1079S CHD3_ENST00000330494.7_Missense_Mutation_p.N1020S|CHD3_ENST00000358181.4_Missense_Mutation_p.N1020S NM_001005271.2 NP_001005271.2 Q12873 CHD3_HUMAN chromodomain helicase DNA binding protein 3 1020 Helicase C-terminal. chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent microtubule organizing center|NuRD complex ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) TCGCTGCTTAATATCATGATG 0.473 41 79 --- --- --- --- MAP2K4 6416 broad.mit.edu 37 17 11958264 11958264 + Missense_Mutation SNP G G C TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr17:11958264G>C ENST00000415385.3 + 3 260 c.207G>C c.(205-207)agG>agC p.R69S MAP2K4_ENST00000353533.5_Missense_Mutation_p.R58S NM_001281435.1 NP_001268364.1 P45985 MP2K4_HUMAN mitogen-activated protein kinase kinase 4 58 cellular response to mechanical stimulus|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol ATP binding|JUN kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity p.0?(10)|p.?(1) NS(1)|biliary_tract(2)|breast(22)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(26)|lung(15)|ovary(8)|pancreas(11)|skin(3)|stomach(2)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 100 all_cancers(5;0.0413)|Breast(5;0.000625)|all_epithelial(5;0.00978)|all_lung(20;0.0449)|Lung NSC(33;0.163) Epithelial(2;4.12e-09)|all cancers(2;6.86e-07)|BRCA - Breast invasive adenocarcinoma(2;8.74e-07)|Colorectal(4;5.32e-05)|COAD - Colon adenocarcinoma(4;0.0039)|READ - Rectum adenocarcinoma(10;0.0681) CTACAGCAAGGTTTACTCTGA 0.348 """D, Mis, N""" """pancreatic, breast, colorectal""" 5 51 --- --- --- --- NCOR1 9611 broad.mit.edu 37 17 15964819 15964819 + Missense_Mutation SNP G G A TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr17:15964819G>A ENST00000268712.3 - 37 6034 c.5777C>T c.(5776-5778)aCc>aTc p.T1926I NCOR1_ENST00000395851.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.T510I NM_006311.3 NP_006302.2 O75376 NCOR1_HUMAN nuclear receptor corepressor 1 1926 Interaction with C1D (By similarity). cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter nuclear chromatin|spindle microtubule|transcriptional repressor complex histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10) 107 UCEC - Uterine corpus endometrioid carcinoma (92;0.101) TGCAGTAATGGTAGTCTTCCC 0.478 5 275 --- --- --- --- SPOP 8405 broad.mit.edu 37 17 47696432 47696432 + Missense_Mutation SNP A A C TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr17:47696432A>C ENST00000393331.3 - 7 861 c.391T>G c.(391-393)Tgg>Ggg p.W131G SPOP_ENST00000347630.2_Missense_Mutation_p.W131G|SPOP_ENST00000504102.1_Missense_Mutation_p.W131G|SPOP_ENST00000503676.1_Missense_Mutation_p.W131G|SPOP_ENST00000393328.2_Missense_Mutation_p.W131G NM_001007226.1|NM_001007227.1 NP_001007227.1|NP_001007228.1 O43791 SPOP_HUMAN speckle-type POZ protein 131 MATH.|Required for nuclear localization. mRNA processing nucleus protein binding p.W131G(2)|p.W131R(1) endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33) 63 TTGAATCCCCAGTCTTTGCCT 0.458 Prostate(2;0.17) 45 98 --- --- --- --- MAN2B1 4125 broad.mit.edu 37 19 12760801 12760801 + Missense_Mutation SNP G G C TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr19:12760801G>C ENST00000456935.2 - 18 2233 c.2193C>G c.(2191-2193)agC>agG p.S731R MAN2B1_ENST00000221363.4_Missense_Mutation_p.S730R NM_000528.3|NM_001173498.1 NP_000519.2|NP_001166969.1 O00754 MA2B1_HUMAN mannosidase, alpha, class 2B, member 1 731 protein deglycosylation lysosome alpha-mannosidase activity|zinc ion binding breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 TGTCAAAACGGCTGATGACCT 0.592 6 183 --- --- --- --- ZNF507 22847 broad.mit.edu 37 19 32844700 32844700 + Missense_Mutation SNP G G A TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr19:32844700G>A ENST00000311921.4 + 2 1156 c.964G>A c.(964-966)Gtg>Atg p.V322M ZNF507_ENST00000544431.1_Missense_Mutation_p.V322M|ZNF507_ENST00000355898.5_Missense_Mutation_p.V322M NM_001136156.1|NM_014910.4 NP_001129628.1|NP_055725.2 Q8TCN5 ZN507_HUMAN zinc finger protein 507 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1) 31 Esophageal squamous(110;0.162) TGGGCCATCAGTGCAAGTGCA 0.498 36 189 --- --- --- --- TPP1 1200 broad.mit.edu 37 11 6636110 6636111 + Frame_Shift_Ins INS - - C TCGA-Y6-A8TL-01A-21D-A377-08 TCGA-Y6-A8TL-10A-01D-A37A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 4f907297-ae7b-4418-8f9c-44dec3b16e05 bd88704d-1edf-4179-a293-d9823e1d7945 g.chr11:6636110_6636111insC ENST00000533371.1 - 11 1606_1607 c.808_809insG c.(808-810)gcafs p.A270fs TPP1_ENST00000299427.6_Frame_Shift_Ins_p.A513fs O14773 TPP1_HUMAN tripeptidyl peptidase I 513 bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis lysosome|melanosome|soluble fraction metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 Medulloblastoma(188;0.00263)|all_neural(188;0.026) Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131) AAAGAGTCCTGCCCCATGCTGC 0.540 120 314 --- --- --- ---