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 HEXB 3074 broad.mit.edu 37 5 74001087 74001087 + Missense_Mutation SNP T T C TCGA-FY-A4B4-01A-11D-A23U-08 TCGA-FY-A4B4-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8356de8c-a93f-4dc6-8db0-31fefb435baf 535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d g.chr5:74001087T>C ENST00000511181.1 + 6 950 c.38T>C c.(37-39)aTa>aCa p.I13T HEXB_ENST00000261416.7_Missense_Mutation_p.I238T P07686 HEXB_HUMAN hexosaminidase B (beta polypeptide) 238 cell death lysosome cation binding|protein heterodimerization activity|protein homodimerization activity p.I238K(1) endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 14 all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231) OV - Ovarian serous cystadenocarcinoma(47;1.72e-57) CACTGGCACATAGTTGATGAC 0.328000 12 12 0 0 1 0 0 AKT1 207 broad.mit.edu 37 14 105246551 105246551 + Missense_Mutation SNP C C T rs34409589 TCGA-FY-A4B4-01A-11D-A23U-08 TCGA-FY-A4B4-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8356de8c-a93f-4dc6-8db0-31fefb435baf 535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d g.chr14:105246551C>T ENST00000554581.1 - 2 1529 c.49G>A c.(49-51)Gag>Aag p.E17K AKT1_ENST00000554848.1_Missense_Mutation_p.E17K|AKT1_ENST00000555528.1_Missense_Mutation_p.E17K|AKT1_ENST00000407796.2_Missense_Mutation_p.E17K|AKT1_ENST00000402615.2_Missense_Mutation_p.E17K|AKT1_ENST00000349310.3_Missense_Mutation_p.E17K P31749 AKT1_HUMAN v-akt murine thymoma viral oncogene homolog 1 17 PH. E -> K (in breast cancer; also detected in colorectal and ovarian cancer; somatic mutation; alters the PH domain conformation; results in activation of the protein; alters the subcellular location of the protein to the plasma membrane). activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation cytosol|nucleoplasm|plasma membrane enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity p.E17K(102) NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15) 176 all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155) all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116) all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243) Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169) TTGATGTACTCCCCTACAGAC 0.612000 E17K(KU1919_URINARY_TRACT) 1 Mis """breast, colorectal, ovarian, NSCLC""" 11 22 0 0 1 0 0 LINGO1 84894 broad.mit.edu 37 15 77906580 77906580 + Missense_Mutation SNP G G C TCGA-FY-A4B4-01A-11D-A23U-08 TCGA-FY-A4B4-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8356de8c-a93f-4dc6-8db0-31fefb435baf 535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d g.chr15:77906580G>C ENST00000355300.6 - 2 1843 c.1669C>G c.(1669-1671)Ctc>Gtc p.L557V LINGO1_ENST00000561030.1_Missense_Mutation_p.L551V NM_032808.5 NP_116197.4 Q96FE5 LIGO1_HUMAN leucine rich repeat and Ig domain containing 1 557 negative regulation of axonogenesis|nerve growth factor receptor signaling pathway integral to membrane|plasma membrane breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1) 31 GCGATGATGAGGGTCTTGATG 0.597000 30 48 0 0 1 0 0 EGFL8 80864 broad.mit.edu 37 6 32135007 32135007 + Missense_Mutation SNP A A G TCGA-FY-A4B4-01A-11D-A23U-08 TCGA-FY-A4B4-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8356de8c-a93f-4dc6-8db0-31fefb435baf 535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d g.chr6:32135007A>G ENST00000395512.1 + 6 679 c.574A>G c.(574-576)Acc>Gcc p.T192A PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.T192A Q99944 EGFL8_HUMAN EGF-like-domain, multiple 8 192 extracellular region|integral to membrane calcium ion binding cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1) 10 AGAGCCCCCAACCAGTGCCAG 0.662000 15 41 0 0 1 0 0 BAGE2 85319 broad.mit.edu 37 21 11039406 11039406 + RNA SNP T T C rs8134740 by1000genomes TCGA-FY-A4B4-01A-11D-A23U-08 TCGA-FY-A4B4-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8356de8c-a93f-4dc6-8db0-31fefb435baf 535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d g.chr21:11039406T>C ENST00000470054.1 - 0 797 B melanoma antigen family, member 2 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) TCATTAGAAATCTGTTTTTCC 0.299000 8 69 0 0 1 0 0 TUBB4A 10382 broad.mit.edu 37 19 6501536 6501536 + Missense_Mutation SNP G G A TCGA-FY-A4B4-01A-11D-A23U-08 TCGA-FY-A4B4-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8356de8c-a93f-4dc6-8db0-31fefb435baf 535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d g.chr19:6501536G>A ENST00000601152.1 - 2 205 c.80C>T c.(79-81)aCg>aTg p.T27M TUBB4A_ENST00000264071.2_Silent_p.N52N|TUBB4A_ENST00000596926.1_Silent_p.N52N|TUBB4A_ENST00000540257.1_Silent_p.N52N|TUBB4A_ENST00000598006.1_Missense_Mutation_p.T38M P04350 TBB4_HUMAN tubulin, beta 4A class IVa 0 'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization cytosol|microtubule GTP binding|GTPase activity|protein binding|structural molecule activity CTGTGGCCTCGTTGTAGTACA 0.592000 30 63 0 0 1 0 0 IPO4 79711 broad.mit.edu 37 14 24657601 24657601 + Missense_Mutation SNP C C T TCGA-FY-A4B4-01A-11D-A23U-08 TCGA-FY-A4B4-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8356de8c-a93f-4dc6-8db0-31fefb435baf 535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d g.chr14:24657601C>T ENST00000354464.6 - 3 361 c.185G>A c.(184-186)cGc>cAc p.R62H RP11-468E2.2_ENST00000561419.1_3'UTR NM_024658.3 NP_078934.3 Q8TEX9 IPO4_HUMAN importin 4 62 Importin N-terminal. intracellular protein transport cytoplasm|nucleus protein binding|protein transporter activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1) 33 GBM - Glioblastoma multiforme(265;0.0087) CAGTCGTCTGCGGGTCAGCAC 0.692000 3 36 0 0 1 0 0 TUBB8P7 0 broad.mit.edu 37 16 90161926 90161926 + RNA SNP T T C rs8061283 by1000genomes TCGA-FY-A4B4-01A-11D-A23U-08 TCGA-FY-A4B4-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8356de8c-a93f-4dc6-8db0-31fefb435baf 535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d g.chr16:90161926T>C ENST00000567960.1 + 0 662 TUBB8P7_ENST00000564451.1_RNA p.I221T(3) CCCACACCCATCTATGGTGAC 0.527000 4 35 0 0 1 0 0 MAP1A 4130 broad.mit.edu 37 15 43813749 43813749 + Silent SNP C C G TCGA-FY-A4B4-01A-11D-A23U-08 TCGA-FY-A4B4-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8356de8c-a93f-4dc6-8db0-31fefb435baf 535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d g.chr15:43813749C>G ENST00000382031.1 + 5 823 c.792C>G c.(790-792)ccC>ccG p.P264P MAP1A_ENST00000399453.1_Silent_p.P26P|MAP1A_ENST00000300231.5_Silent_p.P26P P78559 MAP1A_HUMAN microtubule-associated protein 1A 26 cytoplasm|microtubule|microtubule associated complex protein binding|structural molecule activity breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 66 all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;3.05e-06) Estramustine(DB01196) TACTAGAGCCCCCCACCTCAG 0.577000 37 56 0 0 1 0 0 OR4D11 219986 broad.mit.edu 37 11 59271735 59271735 + Silent SNP A A C TCGA-FY-A4B4-01A-11D-A23U-08 TCGA-FY-A4B4-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8356de8c-a93f-4dc6-8db0-31fefb435baf 535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d g.chr11:59271735A>C ENST00000313253.1 + 1 687 c.687A>C c.(685-687)gcA>gcC p.A229A NM_001004706.1 NP_001004706.1 Q8NGI4 OR4DB_HUMAN olfactory receptor, family 4, subfamily D, member 11 229 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1) 29 GGTCTCAGGCAGGAGGGGGCA 0.527000 72 114 0 0 1 0 0 PIGQ 9091 broad.mit.edu 37 16 628429 628429 + Silent SNP C C T rs142362312 TCGA-FY-A4B4-01A-11D-A23U-08 TCGA-FY-A4B4-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8356de8c-a93f-4dc6-8db0-31fefb435baf 535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d g.chr16:628429C>T ENST00000321878.5 + 5 1152 c.993C>T c.(991-993)ccC>ccT p.P331P PIGQ_ENST00000544860.1_3'UTR|PIGQ_ENST00000026218.5_Silent_p.P331P|PIGQ_ENST00000409527.2_Silent_p.P331P NM_004204.3 NP_004195.2 Q9BRB3 PIGQ_HUMAN phosphatidylinositol glycan anchor biosynthesis, class Q 331 Leu-rich. C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane phosphatidylinositol N-acetylglucosaminyltransferase activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1) 13 Hepatocellular(780;0.00335) TGGGTGCTCCCGCCGGGCTCA 0.682000 4 52 0 0 1 0 0 AKAP11 11215 broad.mit.edu 37 13 42877273 42877273 + Missense_Mutation SNP G G A TCGA-FY-A4B4-01A-11D-A23U-08 TCGA-FY-A4B4-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8356de8c-a93f-4dc6-8db0-31fefb435baf 535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d g.chr13:42877273G>A ENST00000025301.2 + 8 4566 c.4391G>A c.(4390-4392)aGc>aAc p.S1464N NM_016248.3 NP_057332.1 Q9UKA4 AKA11_HUMAN A kinase (PRKA) anchor protein 11 1464 LDPYRNEVSQLYSFSTSLVHSITKDA -> CGPSVELSPWK WQTRCGREGNSWKRE (in Ref. 5; BAA92117). intracellular protein kinase cascade microtubule organizing center protein kinase A binding|protein phosphatase 1 binding breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2) 56 Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114) OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19) CTGGTTCACAGCATAACAAAA 0.378000 3 40 0 0 1 0 0 TP53 7157 broad.mit.edu 37 17 7579472 7579472 + Missense_Mutation SNP G G C rs1042522 byFrequency TCGA-FY-A4B4-01A-11D-A23U-08 TCGA-FY-A4B4-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8356de8c-a93f-4dc6-8db0-31fefb435baf 535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d g.chr17:7579472G>C ENST00000420246.2 - 4 347 c.215C>G c.(214-216)cCc>cGc p.P72R TP53_ENST00000359597.4_Missense_Mutation_p.P72R|TP53_ENST00000269305.4_Missense_Mutation_p.P72R|TP53_ENST00000455263.2_Missense_Mutation_p.P72R|TP53_ENST00000445888.2_Missense_Mutation_p.P72R|TP53_ENST00000413465.2_Missense_Mutation_p.P72R NM_001126114.2|NM_001276696.1 NP_001119586.1|NP_001263625.1 P04637 P53_HUMAN tumor protein p53 72 Interaction with HRMT1L2.|Interaction with WWOX. P -> C (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> G (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in a sporadic cancer; somatic mutation).|P -> R (in dbSNP:rs1042522). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.0?(8)|p.R72P(3)|p.R72fs*51(3)|p.G59fs*23(3)|p.R72H(2)|p.E68fs*76(1)|p.D48fs*55(1)|p.P13fs*18(1)|p.R65fs*38(1)|p.D57_A76del20(1)|p.S33fs*23(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) AGGGGCCACGGGGGGAGCAGC 0.607000 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) 6 182 0 0 1 0 0 KDM2A 22992 broad.mit.edu 37 11 67017761 67017761 + Missense_Mutation SNP G G A TCGA-FY-A4B4-01A-11D-A23U-08 TCGA-FY-A4B4-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8356de8c-a93f-4dc6-8db0-31fefb435baf 535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d g.chr11:67017761G>A ENST00000529006.2 + 17 2706 c.2260G>A c.(2260-2262)Gat>Aat p.D754N KDM2A_ENST00000530342.1_Missense_Mutation_p.D315N|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.D212N|KDM2A_ENST00000398645.2_Missense_Mutation_p.D754N NM_012308.2 NP_036440.1 Q9Y2K7 KDM2A_HUMAN lysine (K)-specific demethylase 2A 754 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleoplasm DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2) 36 TGCCAGCCGCGATGAGCGCTT 0.632000 21 35 0 0 1 0 0 PIK3R6 146850 broad.mit.edu 37 17 8707376 8707376 + Silent SNP A A T TCGA-FY-A4B4-01A-11D-A23U-08 TCGA-FY-A4B4-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8356de8c-a93f-4dc6-8db0-31fefb435baf 535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d g.chr17:8707376A>T ENST00000311434.9 - 20 2327 c.2088T>A c.(2086-2088)acT>acA p.T696T PIK3R6_ENST00000434064.2_5'UTR NM_001010855.2 NP_001010855.1 Q5UE93 PI3R6_HUMAN phosphoinositide-3-kinase, regulatory subunit 6 697 platelet activation cytosol CATCCCTGAAAGTGCGTTGAT 0.587000 14 18 0 0 1 0 0 C2CD3 26005 broad.mit.edu 37 11 73806316 73806316 + Silent SNP G G A TCGA-FY-A4B4-01A-11D-A23U-08 TCGA-FY-A4B4-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8356de8c-a93f-4dc6-8db0-31fefb435baf 535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d g.chr11:73806316G>A ENST00000334126.7 - 17 3343 c.3117C>T c.(3115-3117)caC>caT p.H1039H C2CD3_ENST00000313663.7_Silent_p.H1039H Q4AC94 C2CD3_HUMAN C2 calcium-dependent domain containing 3 1039 centrosome NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3) 64 Breast(11;4.16e-06) TGGATTGAGAGTGTTGAACTG 0.393000 32 65 0 0 1 0 0 RRN3P2 0 broad.mit.edu 37 16 29110458 29110458 + RNA SNP T T C rs151074589 by1000genomes TCGA-FY-A4B4-01A-11D-A23U-08 TCGA-FY-A4B4-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8356de8c-a93f-4dc6-8db0-31fefb435baf 535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d g.chr16:29110458T>C ENST00000564580.1 + 0 1131 p.W375R(25) GAATTTTGAGTGGATAGTGAT 0.328000 5 23 0 0 1 0 0 DRD4 1815 broad.mit.edu 37 11 639803 639803 + Missense_Mutation SNP G G T TCGA-FY-A4B4-01A-11D-A23U-08 TCGA-FY-A4B4-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8356de8c-a93f-4dc6-8db0-31fefb435baf 535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d g.chr11:639803G>T ENST00000176183.5 + 3 566 c.554G>T c.(553-555)tGc>tTc p.C185F NM_000797.3 NP_000788.2 P21917 DRD4_HUMAN dopamine receptor D4 185 activation of MAPK activity|adult locomotory behavior|arachidonic acid secretion|behavioral fear response|behavioral response to cocaine|behavioral response to ethanol|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of protein secretion|positive regulation of sodium:hydrogen antiporter activity|regulation of dopamine metabolic process|regulation of inhibitory postsynaptic membrane potential|response to amphetamine|response to histamine|social behavior integral to plasma membrane dopamine D4 receptor activity|drug binding|potassium channel regulator activity|SH3 domain binding NS(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1) 4 all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136) all cancers(45;4.36e-28)|Epithelial(43;2.59e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.0703) Apomorphine(DB00714)|Clozapine(DB00363)|Olanzapine(DB00334)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Ropinirole(DB00268)|Thiethylperazine(DB00372)|Ziprasidone(DB00246) CCCGCCGTGTGCCGCCTGGAG 0.711000 11 24 1.5842e-08 1.66758e-08 1 1 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-FY-A4B4-01A-11D-A23U-08 TCGA-FY-A4B4-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8356de8c-a93f-4dc6-8db0-31fefb435baf 535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 14 40 0 0 1 0 0 NPIPB5 100132247 broad.mit.edu 37 16 22545865 22545865 + Missense_Mutation SNP G G C rs147500263 by1000genomes TCGA-FY-A4B4-01A-11D-A23U-08 TCGA-FY-A4B4-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8356de8c-a93f-4dc6-8db0-31fefb435baf 535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d g.chr16:22545865G>C ENST00000424340.1 + 7 1840 c.1561G>C c.(1561-1563)Gcc>Ccc p.A521P NPIPB5_ENST00000415654.1_3'UTR|NPIPB5_ENST00000517539.1_Missense_Mutation_p.A521P NM_001135865.1 NP_001129337.1 nuclear pore complex interacting protein family, member B5 TCAGCTCACTGCCCTTCCACC 0.567000 26 266 0 0 1 0 0 WEE1 7465 broad.mit.edu 37 11 9595595 9595597 + In_Frame_Del DEL GAG GAG - TCGA-FY-A4B4-01A-11D-A23U-08 TCGA-FY-A4B4-10A-01D-A23U-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8356de8c-a93f-4dc6-8db0-31fefb435baf 535e15a8-1d58-4e6a-bd6b-5d1bb174ce5d g.chr11:9595595_9595597delGAG ENST00000450114.2 + 1 368_370 c.115_117delGAG c.(115-117)del p.E43del NM_003390.3 NP_003381.1 P30291 WEE1_HUMAN WEE1 G2 checkpoint kinase 43 Poly-Glu. blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle nucleoplasm ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity p.E39delE(1) breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1) 23 all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484) ggaggaagaagaggaggaggagg 0.739 2 4 --- --- --- ---