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 CSAG4 0 broad.mit.edu 37 X 151896589 151896589 + RNA SNP C C A TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chrX:151896589C>A ENST00000361201.4 - 0 351 NR_073432.1 p.L11F(1) endometrium(2)|kidney(2)|lung(1) 5 GGTTGTTGGACAATGGGCTGG 0.557000 3 69 0.115264 0.120503 0.115264 1 0 MYLK 4638 broad.mit.edu 37 3 123444812 123444812 + Missense_Mutation SNP G G A TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr3:123444812G>A ENST00000360772.3 - 13 2008 c.1630C>T c.(1630-1632)Cgg>Tgg p.R544W MYLK_ENST00000475616.1_Missense_Mutation_p.R544W|MYLK_ENST00000360304.3_Missense_Mutation_p.R544W|MYLK_ENST00000359169.1_Missense_Mutation_p.R544W|MYLK_ENST00000346322.5_Missense_Mutation_p.R475W Q15746 MYLK_HUMAN myosin light chain kinase 544 Ig-like C2-type 4. aorta smooth muscle tissue morphogenesis|muscle contraction cytosol actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2) 113 Lung NSC(201;0.0496) GBM - Glioblastoma multiforme(114;0.0736) CAAGTGATCCGGGGCACTGGG 0.617000 12 19 0 0 0.411799 0 0 ZNF630 57232 broad.mit.edu 37 X 47920207 47920207 + Missense_Mutation SNP C C A TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chrX:47920207C>A ENST00000442455.3 - 3 434 c.91G>T c.(91-93)Gtc>Ttc p.V31F ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_5'UTR|ZNF630_ENST00000409324.3_Missense_Mutation_p.V45F NM_001190255.1 NP_001177184.1 Q2M218 ZN630_HUMAN zinc finger protein 630 45 KRAB. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(1)|large_intestine(6)|lung(11)|ovary(1) 19 CCCACGGAGACCAGGTGATTA 0.483000 7 4 0.00198382 0.00212222 0.248553 1 0 CDK10 8558 broad.mit.edu 37 16 89753130 89753130 + Silent SNP A A T TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr16:89753130A>T ENST00000353379.7 + 1 55 c.12A>T c.(10-12)ccA>ccT p.P4P CDK10_ENST00000505473.1_5'UTR|CDK10_ENST00000331006.8_Intron NM_001098533.2|NM_001160367.1|NM_052988.4 NP_001092003.2|NP_001153839.1|NP_443714.3 Q15131 CDK10_HUMAN cyclin-dependent kinase 10 4 negative regulation of cell proliferation|traversing start control point of mitotic cell cycle ATP binding|cyclin-dependent protein kinase activity|protein binding ovary(1) 1 Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256) BRCA - Breast invasive adenocarcinoma(80;0.0276) TGGCGGAGCCAGATCTGGAGT 0.697000 3 6 0 0 0.115264 0 0 MAPRE2 10982 broad.mit.edu 37 18 32677539 32677539 + Missense_Mutation SNP G G T TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr18:32677539G>T ENST00000436190.2 + 4 618 c.344G>T c.(343-345)cGa>cTa p.R115L MAPRE2_ENST00000300249.5_Missense_Mutation_p.R127L|MAPRE2_ENST00000588910.1_Missense_Mutation_p.R127L|MAPRE2_ENST00000538170.2_Missense_Mutation_p.R74L|MAPRE2_ENST00000413393.1_Missense_Mutation_p.R84L|MAPRE2_ENST00000589699.1_Missense_Mutation_p.R84L NM_001143827.2 NP_001137299.1 Q15555 MARE2_HUMAN microtubule-associated protein, RP/EB family, member 2 127 CH. cell division|cell proliferation|mitosis|signal transduction cytoplasm|microtubule microtubule binding central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1) 9 TCATTTAAGCGAATGAACGTT 0.343000 7 33 6.5536e-12 7.72989e-12 0.278610 1 0 COL22A1 169044 broad.mit.edu 37 8 139636001 139636001 + Missense_Mutation SNP C C T TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr8:139636001C>T ENST00000303045.6 - 52 4191 c.3745G>A c.(3745-3747)Gga>Aga p.G1249R COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1229R NM_152888.1 NP_690848.1 Q8NFW1 COMA1_HUMAN collagen, type XXII, alpha 1 1249 Collagen-like 12.|Gly-rich.|Pro-rich. cell adhesion collagen|cytoplasm structural molecule activity breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4) 211 all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0517) CCCGGCTTTCCATCTCTGCCC 0.448000 HNSCC(7;0.00092) 48 248 0 0 0.870114 0 0 LILRA1 11024 broad.mit.edu 37 19 55107882 55107882 + Missense_Mutation SNP G G A TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr19:55107882G>A ENST00000251372.3 + 7 1369 c.1187G>A c.(1186-1188)aGg>aAg p.R396K LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron NM_006863.1 NP_006854.1 O75019 LIRA1_HUMAN leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 396 Ig-like C2-type 4. cell surface receptor linked signaling pathway|defense response|regulation of immune response integral to membrane|plasma membrane antigen binding|transmembrane receptor activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 47 GBM - Glioblastoma multiforme(193;0.0348) GGGACCTACAGGTGCTACGGC 0.587000 22 88 0 0 0.608945 0 0 LMF2 91289 broad.mit.edu 37 22 50943889 50943889 + Missense_Mutation SNP C C A TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr22:50943889C>A ENST00000216080.5 - 7 1087 c.919G>T c.(919-921)Gtg>Ttg p.V307L LMF2_ENST00000380796.3_Missense_Mutation_p.V332L|LMF2_ENST00000474879.2_Missense_Mutation_p.V332L Q9BU23 LMF2_HUMAN lipase maturation factor 2 332 endoplasmic reticulum membrane|integral to membrane breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2) 10 all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178) BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247) AAGTAGTGCACAGTGCCATAG 0.662000 20 85 7.45023e-12 8.56776e-12 0.592651 1 0 RTEL1 51750 broad.mit.edu 37 20 62321451 62321451 + Missense_Mutation SNP C C T TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr20:62321451C>T ENST00000318100.4 + 25 2980 c.2153C>T c.(2152-2154)gCc>gTc p.A718V RTEL1_ENST00000508582.2_Missense_Mutation_p.A742V|RTEL1_ENST00000370003.1_5'UTR|RTEL1_ENST00000370018.3_Missense_Mutation_p.A718V|RTEL1_ENST00000360203.5_Missense_Mutation_p.A718V|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A718V Q9NZ71 RTEL1_HUMAN regulator of telomere elongation helicase 1 718 DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 24 all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13) Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107) TTCGCCTTTGCCGACGCAAGA 0.617000 3 82 0 0 0.150653 0 0 TXNDC16 57544 broad.mit.edu 37 14 52922041 52922041 + Splice_Site SNP C C T TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr14:52922041C>T ENST00000281741.4 - 18 2214 c.e18+1 TXNDC16_ENST00000554399.1_Intron NM_001160047.1|NM_020784.2 NP_001153519.1|NP_065835.2 Q9P2K2 TXD16_HUMAN thioredoxin domain containing 16 cell redox homeostasis extracellular region breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1) 21 Breast(41;0.0716) AACATACTCACAAACATTTCC 0.358000 13 39 0 0 0.479597 0 0 MAP4K4 9448 broad.mit.edu 37 2 102503626 102503626 + Missense_Mutation SNP A A G TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr2:102503626A>G ENST00000413150.2 + 26 3063 c.3008A>G c.(3007-3009)tAt>tGt p.Y1003C MAP4K4_ENST00000302217.5_Missense_Mutation_p.Y891C|MAP4K4_ENST00000347699.4_Missense_Mutation_p.Y1088C|MAP4K4_ENST00000324219.4_Missense_Mutation_p.Y1169C|MAP4K4_ENST00000425019.1_Missense_Mutation_p.Y1121C|MAP4K4_ENST00000350878.4_Missense_Mutation_p.Y1128C|MAP4K4_ENST00000456652.1_Missense_Mutation_p.Y887C|MAP4K4_ENST00000350198.4_Missense_Mutation_p.Y1007C NM_001242560.1|NM_004834.4 NP_001229489.1|NP_004825.3 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase kinase 4 1088 CNH.|Mediates interaction with RAP2A. intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 41 AAAGTGATCTATGGATCCTGT 0.423000 3 17 0 0 0.115264 0 0 ITGA2B 3674 broad.mit.edu 37 17 42455842 42455842 + Missense_Mutation SNP A A C TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr17:42455842A>C ENST00000262407.5 - 20 2013 c.1982T>G c.(1981-1983)gTc>gGc p.V661G ITGA2B_ENST00000353281.4_Missense_Mutation_p.V661G NM_000419.3 NP_000410.2 P08514 ITA2B_HUMAN integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 661 axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation integrin complex|platelet alpha granule membrane identical protein binding|receptor activity biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 36 Prostate(33;0.0181) BRCA - Breast invasive adenocarcinoma(366;0.191) Tirofiban(DB00775) CAGCTCCAGGACATTATCTGC 0.657000 4 17 0 0 0.184627 0 0 TP53 7157 broad.mit.edu 37 17 7578458 7578458 + Missense_Mutation SNP G G C TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr17:7578458G>C ENST00000420246.2 - 5 604 c.472C>G c.(472-474)Cgc>Ggc p.R158G TP53_ENST00000413465.2_Missense_Mutation_p.R158G|TP53_ENST00000445888.2_Missense_Mutation_p.R158G|TP53_ENST00000269305.4_Missense_Mutation_p.R158G|TP53_ENST00000359597.4_Missense_Mutation_p.R158G|TP53_ENST00000455263.2_Missense_Mutation_p.R158G NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 158 Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42. R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions). 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.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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) GCCATGGCGCGGACGCGGGTG 0.622000 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) 19 33 0 0 0.575678 0 0 KIDINS220 57498 broad.mit.edu 37 2 8958894 8958894 + Silent SNP G G A TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr2:8958894G>A ENST00000256707.3 - 3 319 c.138C>T c.(136-138)gcC>gcT p.A46A KIDINS220_ENST00000473731.1_Silent_p.A46A|KIDINS220_ENST00000427284.1_Silent_p.A46A|KIDINS220_ENST00000418530.1_Silent_p.A4A|KIDINS220_ENST00000319688.5_Silent_p.A46A NM_020738.2 NP_065789.1 Q9ULH0 KDIS_HUMAN kinase D-interacting substrate, 220kDa 46 activation of MAPKK activity|nerve growth factor receptor signaling pathway cytosol|integral to membrane NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2) 60 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) TGCCTTGTTCGGCAGCTATCA 0.328000 18 67 0 0 0.608945 0 0 TUBA1B 10376 broad.mit.edu 37 12 49523049 49523049 + Silent SNP A A G rs1057072 TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr12:49523049A>G ENST00000336023.5 - 3 445 c.351T>C c.(349-351)ctT>ctC p.L117L RP11-386G11.10_ENST00000547387.1_RNA NM_006082.2 NP_006073.2 P68363 TBA1B_HUMAN tubulin, alpha 1b 117 'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization cytoplasm|microtubule GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4) 12 GGTCCAACACAAGGTCAATGA 0.488000 4 133 0 0 0.248553 0 0 UMPS 7372 broad.mit.edu 37 3 124449455 124449455 + Missense_Mutation SNP G G T TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr3:124449455G>T ENST00000232607.2 + 1 243 c.137G>T c.(136-138)cGa>cTa p.R46L UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000538242.1_5'UTR|UMPS_ENST00000536109.1_5'UTR NM_000373.3 NP_000364.1 P11172 UMPS_HUMAN uridine monophosphate synthetase 46 OPRTase. 'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process cytosol|nucleus orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2) 16 GBM - Glioblastoma multiforme(114;0.146) ATCGTGTCTCGACCGCGTCTT 0.587000 11 31 2.80697e-09 3.14929e-09 0.387290 1 0 NF1 4763 broad.mit.edu 37 17 29677227 29677227 + Nonsense_Mutation SNP C C T TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr17:29677227C>T ENST00000358273.4 + 50 7731 c.7348C>T c.(7348-7350)Cga>Tga p.R2450* NF1_ENST00000356175.3_Nonsense_Mutation_p.R2429*|NF1_ENST00000444181.2_Nonsense_Mutation_p.R243*|NF1_ENST00000417592.2_Nonsense_Mutation_p.R163* NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2450 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.R2450*(6)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TGAAGAAGTTCGAAGTCGCTG 0.363000 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 24 94 0 0 0.681144 0 0 USP37 57695 broad.mit.edu 37 2 219418446 219418446 + Splice_Site SNP A A G TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr2:219418446A>G ENST00000258399.3 - 5 570 c.156_splice c.e5-1 p.L53_splice USP37_ENST00000338465.5_Splice_Site_p.L53_splice|USP37_ENST00000415516.1_5'UTR|USP37_ENST00000418019.1_Splice_Site_p.L53_splice|USP37_ENST00000454775.1_Splice_Site_p.L53_splice NM_020935.2 NP_065986.2 Q86T82 UBP37_HUMAN ubiquitin specific peptidase 37 53 ubiquitin-dependent protein catabolic process nucleus cysteine-type peptidase activity|ubiquitin thiolesterase activity NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1) 35 Renal(207;0.0915) Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487) GTTATGACTTAGCTAATCAAG 0.318000 3 43 0 0 0.150653 0 0 CTCFL 140690 broad.mit.edu 37 20 56093824 56093824 + Missense_Mutation SNP G G A TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr20:56093824G>A ENST00000426658.2 - 4 1710 c.1049C>T c.(1048-1050)gCc>gTc p.A350V CTCFL_ENST00000502686.2_Missense_Mutation_p.A88V|CTCFL_ENST00000433949.2_Missense_Mutation_p.A350V|CTCFL_ENST00000422869.2_Missense_Mutation_p.A350V|CTCFL_ENST00000432255.2_Missense_Mutation_p.A350V|CTCFL_ENST00000429804.2_Missense_Mutation_p.A350V|CTCFL_ENST00000243914.3_Missense_Mutation_p.A350V|CTCFL_ENST00000423479.2_Missense_Mutation_p.A350V|CTCFL_ENST00000422109.2_Missense_Mutation_p.A350V|CTCFL_ENST00000481655.1_5'UTR|CTCFL_ENST00000539382.1_Missense_Mutation_p.A145V|CTCFL_ENST00000371196.2_Missense_Mutation_p.A350V Q8NI51 CTCFL_HUMAN CCCTC-binding factor (zinc finger protein)-like 350 cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent cytoplasm|nucleus histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 58 Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242) BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07) CTCCACACTGGCATACTTGCA 0.443000 4 172 0 0 0.150653 0 0 FAM83G 644815 broad.mit.edu 37 17 18874945 18874945 + Silent SNP G G A TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr17:18874945G>A ENST00000388995.6 - 6 2422 c.2199C>T c.(2197-2199)aaC>aaT p.N733N FAM83G_ENST00000585154.2_Silent_p.N733N|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Silent_p.N733N|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron A6ND36 FA83G_HUMAN family with sequence similarity 83, member G 733 central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1) 22 CTGGGCCAGCGTTTCTGGTAG 0.642000 10 38 0 0 0.387290 0 0 WDR47 22911 broad.mit.edu 37 1 109544855 109544855 + Missense_Mutation SNP A A G TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr1:109544855A>G ENST00000357672.3 - 6 1715 c.1340T>C c.(1339-1341)tTc>tCc p.F447S WDR47_ENST00000369965.4_Missense_Mutation_p.F476S|WDR47_ENST00000361054.3_Missense_Mutation_p.F447S|WDR47_ENST00000400794.3_Missense_Mutation_p.F483S|WDR47_ENST00000369962.3_Missense_Mutation_p.F475S O94967 WDR47_HUMAN WD repeat domain 47 475 Gln-rich. breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2) 20 all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822) Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244) CCTATTAAGGAACTGTTCAGT 0.383000 3 141 0 0 0.115264 0 0 DYM 54808 broad.mit.edu 37 18 46812851 46812851 + Missense_Mutation SNP G G A TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr18:46812851G>A ENST00000269445.6 - 9 1356 c.899C>T c.(898-900)gCg>gTg p.A300V DYM_ENST00000442713.2_Missense_Mutation_p.A110V NM_017653.3 NP_060123.3 Q7RTS9 DYM_HUMAN dymeclin 300 Golgi apparatus NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1) 18 GGGGTTTGGCGCATCTGAGGC 0.488000 17 107 0 0 0.520397 0 0 RAI14 26064 broad.mit.edu 37 5 34811934 34811934 + Missense_Mutation SNP A A G TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr5:34811934A>G ENST00000265109.3 + 9 907 c.620A>G c.(619-621)aAg>aGg p.K207R RAI14_ENST00000428746.2_Missense_Mutation_p.K207R|RAI14_ENST00000515799.1_Missense_Mutation_p.K210R|RAI14_ENST00000506376.1_Missense_Mutation_p.K199R|RAI14_ENST00000503673.1_Missense_Mutation_p.K207R|RAI14_ENST00000512629.1_Missense_Mutation_p.K207R|RAI14_ENST00000397449.1_Missense_Mutation_p.K200R NM_001145522.1|NM_015577.2 NP_001138994.1|NP_056392.2 Q9P0K7 RAI14_HUMAN retinoic acid induced 14 207 cell cortex|cytoskeleton protein binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 56 all_lung(31;0.000191) TTAATTAAAAAGGGTGCAGAC 0.383000 3 78 0 0 0.115264 0 0 IGF1R 3480 broad.mit.edu 37 15 99434555 99434555 + Splice_Site SNP G G A TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr15:99434555G>A ENST00000268035.6 + 3 1253 c.640_splice c.e3-1 p.M214_splice IGF1R_ENST00000560432.1_3'UTR|RP11-654A16.1_ENST00000558736.1_RNA|IGF1R_ENST00000558762.1_Splice_Site_p.M214_splice NM_000875.3 NP_000866.1 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor 214 anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 63 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) TCTCCACAGTGTGCCCAAGCA 0.647000 6 10 0 0 0.278610 0 0 ZNF17 7565 broad.mit.edu 37 19 57932287 57932287 + Missense_Mutation SNP G G A TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr19:57932287G>A ENST00000307658.7 + 4 1696 c.1433G>A c.(1432-1434)gGc>gAc p.G478D ZNF17_ENST00000601808.1_Missense_Mutation_p.G476D|AC004076.7_ENST00000597410.1_Intron P17021 ZNF17_HUMAN zinc finger protein 17 476 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176) AGTGAATGTGGCAAATTCTTT 0.413000 5 138 0 0 0.184627 0 0 PM20D1 148811 broad.mit.edu 37 1 205814452 205814452 + Splice_Site SNP C C G TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr1:205814452C>G ENST00000367136.4 - 3 534 c.e3+1 PM20D1_ENST00000460624.1_Splice_Site NM_152491.4 NP_689704.4 Q6GTS8 P20D1_HUMAN peptidase M20 domain containing 1 extracellular region metal ion binding|peptidase activity breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1) 28 Breast(84;0.201) BRCA - Breast invasive adenocarcinoma(75;0.0252) GCATCTCAGACCATCACAGAG 0.547000 4 62 0 0 0.184627 0 0 ATRX 546 broad.mit.edu 37 X 76813115 76813115 + Splice_Site SNP C C T TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chrX:76813115C>T ENST00000373344.5 - 30 6720 c.6504_splice c.e30-1 p.G2169_splice ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.G2131_splice NM_000489.3 NP_000480.2 P46100 ATRX_HUMAN alpha thalassemia/mental retardation syndrome X-linked 2169 Helicase C-terminal. DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent nuclear heterochromatin ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding p.?(1) bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2) 145 Phosphatidylserine(DB00144) TTCCATGGTTCCCTTTGTAAA 0.328000 """Mis, F, N""" """Pancreatic neuroendocrine tumors, paediatric GBM""" ATR-X (alpha thalassemia/mental retardation) syndrome 19 26 0 0 0.575678 0 0 GSPT2 23708 broad.mit.edu 37 X 51488255 51488255 + Missense_Mutation SNP T T A TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chrX:51488255T>A ENST00000340438.4 + 1 1775 c.1533T>A c.(1531-1533)gaT>gaA p.D511E NM_018094.4 NP_060564.2 Q8IYD1 ERF3B_HUMAN G1 to S phase transition 2 511 cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination cytoplasm GTP binding|GTPase activity|protein binding breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1) 20 Ovarian(276;0.236) TACTTTGTGATCCTAGTAACC 0.418000 23 25 0 0 0.624587 0 0 ACACA 31 broad.mit.edu 37 17 35580444 35580444 + Missense_Mutation SNP C C T TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr17:35580444C>T ENST00000353139.5 - 28 4034 c.3553G>A c.(3553-3555)Gca>Aca p.A1185T ACACA_ENST00000394406.2_Missense_Mutation_p.A1148T|ACACA_ENST00000360679.3_Missense_Mutation_p.A1090T|ACACA_ENST00000335166.5_Missense_Mutation_p.A1070T NM_198834.1|NM_198839.1 NP_942131.1|NP_942136.1 Q13085 ACACA_HUMAN acetyl-CoA carboxylase alpha 1148 acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process cytosol acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 83 Breast(25;0.00157)|Ovarian(249;0.15) Biotin(DB00121) TCCAGAGCTGCCATCCTCACT 0.403000 20 118 0 0 0.575678 0 0 MYH2 4620 broad.mit.edu 37 17 10442867 10442867 + Missense_Mutation SNP G G A TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr17:10442867G>A ENST00000245503.5 - 13 1544 c.1160C>T c.(1159-1161)gCg>gTg p.A387V MYH2_ENST00000397183.2_Missense_Mutation_p.A387V|CTC-297N7.7_ENST00000587182.1_RNA|MYH2_ENST00000532183.1_Missense_Mutation_p.A387V NM_017534.5 NP_060004.3 Q9UKX2 MYH2_HUMAN myosin, heavy chain 2, skeletal muscle, adult 387 Myosin head-like. muscle filament sliding muscle myosin complex|myosin filament|sarcomere actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle p.A387V(1) NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4) 176 GAGGTAGGCCGCCTTGTCAGC 0.428000 39 53 0 0 0.796494 0 0 CAPN3 825 broad.mit.edu 37 15 42676717 42676717 + Missense_Mutation SNP G G T TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr15:42676717G>T ENST00000397163.3 + 2 565 c.346G>T c.(346-348)Gcc>Tcc p.A116S CAPN3_ENST00000357568.3_Missense_Mutation_p.A116S|CAPN3_ENST00000356316.3_Missense_Mutation_p.A29S|CAPN3_ENST00000349748.3_Missense_Mutation_p.A116S|CAPN3_ENST00000318023.7_Missense_Mutation_p.A116S|RP11-164J13.1_ENST00000495723.1_RNA NM_000070.2 NP_000061.1 P20807 CAN3_HUMAN calpain 3, (p94) 116 Calpain catalytic. muscle organ development|proteolysis cytoplasm calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1) 47 all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152) GBM - Glioblastoma multiforme(94;7.36e-07) CATTGATGGAGCCAACAGAAC 0.433000 23 85 0.000147802 0.000161878 0.706142 1 0 CHRNB4 1143 broad.mit.edu 37 15 78917350 78917350 + Missense_Mutation SNP T T G TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr15:78917350T>G ENST00000412074.2 - 5 754 c.643A>C c.(643-645)Acc>Ccc p.T215P CHRNB4_ENST00000261751.3_3'UTR NM_001256567.1 NP_001243496.1 P30926 ACHB4_HUMAN cholinergic receptor, nicotinic, beta 4 (neuronal) 0 regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity endometrium(7)|kidney(1)|lung(13)|prostate(1) 22 CTGTGGCTGGTTTGATGGGGT 0.572000 4 10 0 0 0.278610 0 0 RELN 5649 broad.mit.edu 37 7 103290796 103290796 + Missense_Mutation SNP C C T TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr7:103290796C>T ENST00000428762.1 - 16 2086 c.1927G>A c.(1927-1929)Gca>Aca p.A643T RELN_ENST00000343529.5_Missense_Mutation_p.A643T|RELN_ENST00000424685.2_Missense_Mutation_p.A643T NM_005045.3 NP_005036.2 P78509 RELN_HUMAN reelin 643 axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2) 227 COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184) CGGGTTAGTGCTGCGTTAGGA 0.403000 3 77 0 0 0.115264 0 0 GUCY2C 2984 broad.mit.edu 37 12 14794127 14794127 + Missense_Mutation SNP G G A rs148314105 TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr12:14794127G>A ENST00000261170.3 - 18 2093 c.1957C>T c.(1957-1959)Cgc>Tgc p.R653C NM_004963.3 NP_004954.2 P25092 GUC2C_HUMAN guanylate cyclase 2C (heat stable enterotoxin receptor) 653 Protein kinase. intracellular signal transduction|receptor guanylyl cyclase signaling pathway integral to membrane ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1) 51 TTGGCTTGGCGGAGGTGCTCT 0.498000 17 55 0 0 0.539581 0 0 CCDC88B 283234 broad.mit.edu 37 11 64120928 64120928 + Missense_Mutation SNP G G C TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr11:64120928G>C ENST00000356786.5 + 22 3837 c.3793G>C c.(3793-3795)Gag>Cag p.E1265Q CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.E417Q NM_032251.5 NP_115627.6 A6NC98 CC88B_HUMAN coiled-coil domain containing 88B 1265 microtubule cytoskeleton organization cytoplasm microtubule binding endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 27 GCGCAGCCTGGAGAGTCGGGA 0.677000 7 16 0 0 0.248553 0 0 CCDC66 285331 broad.mit.edu 37 3 56627603 56627603 + Missense_Mutation SNP A A G TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr3:56627603A>G ENST00000394672.3 + 9 1223 c.1153A>G c.(1153-1155)Aca>Gca p.T385A CCDC66_ENST00000326595.7_Missense_Mutation_p.T351A|CCDC66_ENST00000436465.2_Missense_Mutation_p.T385A NM_001012506.4|NM_001141947.1 NP_001012524.4|NP_001135419.1 A2RUB6 CCD66_HUMAN coiled-coil domain containing 66 385 breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1) 12 KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233) CTCTCAGTCAACACACAAACA 0.453000 10 53 0 0 0.361761 0 0 ADC 113451 broad.mit.edu 37 1 33583668 33583669 + Frame_Shift_Ins INS - - G TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr1:33583668_33583669insG ENST00000294517.6 + 11 1782_1783 c.1195_1196insG c.(1195-1197)gggfs p.G399fs ADC_ENST00000484656.1_3'UTR|ADC_ENST00000373441.1_Frame_Shift_Ins_p.G419fs|ADC_ENST00000373443.3_Frame_Shift_Ins_p.G399fs|ADC_ENST00000398167.1_Frame_Shift_Ins_p.G419fs NM_052998.2 NP_443724.1 Q96A70 ADC_HUMAN arginine decarboxylase 399 polyamine biosynthetic process|spermatogenesis cytosol arginine decarboxylase activity NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2) 11 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837) L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114) TTCCCCCTTTTGGGGGACCCAG 0.619 8 57 --- --- --- --- NOTCH2 4853 broad.mit.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr1:120612003_120612004delGG ENST00000256646.2 - 1 236_237 c.17_18delCC c.(16-18)cfs p.P6fs NM_024408.3 NP_077719.2 Q04721 NOTC2_HUMAN notch 2 6 anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity p.P6fs*27(2) breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1) 158 all_neural(166;0.153) all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809) Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133) ACAGCAGAGCGGGGCGCAGGGC 0.762 """N, F, Mis""" """marginal zone lymphoma, DLBCL""" Alagille Syndrome 6 5 --- --- --- --- Z97634.5 0 broad.mit.edu 37 16 437259 437260 + RNA DEL AT AT - TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr16:437259_437260delAT ENST00000412293.1 + 0 521 NR_024453.2 CTAATTCTAAATATATATATAT 0.421 4 7 --- --- --- --- CTD-2547E10.2 0 broad.mit.edu 37 16 21469994 21469994 + RNA DEL A A - TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr16:21469994delA ENST00000520823.2 - 0 749 ACTGTACATTAAAAAAAAAAA 0.294 3 5 --- --- --- --- NF1 4763 broad.mit.edu 37 17 29683983 29683984 + Frame_Shift_Ins INS - - A TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr17:29683983_29683984insA ENST00000358273.4 + 53 8127_8128 c.7744_7745insA c.(7744-7746)gagfs p.E2582fs NF1_ENST00000444181.2_Frame_Shift_Ins_p.E375fs|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Frame_Shift_Ins_p.E2561fs NM_001042492.2 NP_001035957.1 P21359 NF1_HUMAN neurofibromin 1 2582 actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus protein binding|Ras GTPase activator activity p.0?(8)|p.?(3) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) TGCAGAAACTCAGAGGATTTCC 0.371 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) 37 194 --- --- --- --- ABHD16B 140701 broad.mit.edu 37 20 62494293 62494293 + Frame_Shift_Del DEL G G - TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr20:62494293delG ENST00000369916.3 + 1 1728 c.1400delG c.(1399-1401)tgfs p.W467fs NM_080622.3 NP_542189.1 Q9H3Z7 ABHGB_HUMAN abhydrolase domain containing 16B 467 hydrolase activity endometrium(2)|kidney(1)|lung(3) 6 CAGTTGCCCTGGCGGCTGTAA 0.632 2 4 --- --- --- --- TPTE 7179 broad.mit.edu 37 21 10944697 10944697 + Frame_Shift_Del DEL A A - TCGA-FG-5963-01A-11D-1705-08 TCGA-FG-5963-10A-01D-1705-08 Untested Somatic Phase_I WXS none Illumina GAIIx 22326318-2d69-4163-96f3-2729ac0ed905 8db33879-438e-4e72-a0f5-46f899011432 g.chr21:10944697delA ENST00000298232.7 - 10 850 c.483delT c.(481-483)ttfs p.F161fs TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Frame_Shift_Del_p.F179fs|TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs NM_199259.2 NP_954868.1 P56180 TPTE_HUMAN transmembrane phosphatase with tensin homology 179 signal transduction integral to membrane ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1) 130 Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723) UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247) ACTTAATGTCAAAAAAAATGT 0.299 7 210 --- --- --- ---