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 PHKA2 5256 broad.mit.edu 37 X 18969292 18969292 + Missense_Mutation SNP G G T TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chrX:18969292G>T uc004cyv.4 - 3 814 c.384C>A c.(382-384)gaC>gaA p.D128E PHKA2_uc010nfh.1_Intron|PHKA2_uc010nfi.1_Missense_Mutation_p.D70E NM_000292 NP_000283 P46019 KPB2_HUMAN Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA. 128 glucose metabolic process|glycogen catabolic process cytosol|phosphorylase kinase complex|plasma membrane calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 61 Hepatocellular(33;0.183) GGCCCCACTGGTCGTCGCCCA 0.607000 5 83 0 0 1 0 0 FBXO47 494188 broad.mit.edu 37 17 37101328 37101328 + Missense_Mutation SNP A A C TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr17:37101328A>C uc002hrc.2 - 6 878 c.678T>G c.(676-678)caT>caG p.H226Q NM_001008777 NP_001008777 Q5MNV8 FBX47_HUMAN Homo sapiens F-box protein 47 (FBXO47), mRNA. 226 NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1) 20 GATGTGTCCAATGATCAAGGA 0.388000 28 45 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 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(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(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 24 40 0 0 1 0 0 NFATC4 4776 broad.mit.edu 37 14 24845682 24845682 + Missense_Mutation SNP C C G TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr14:24845682C>G uc010tol.2 + 9 2544 c.2428C>G c.(2428-2430)Cct>Gct p.P810A NFATC4_uc010alr.3_Missense_Mutation_p.P810A|NFATC4_uc010tok.2_Missense_Mutation_p.P810A|NFATC4_uc010too.2_Missense_Mutation_p.P760A|NFATC4_uc010tom.2_Missense_Mutation_p.P760A|NFATC4_uc010ton.2_Missense_Mutation_p.P760A|NFATC4_uc010toq.2_Missense_Mutation_p.P779A|NFATC4_uc010alt.3_Missense_Mutation_p.P779A|NFATC4_uc010top.2_Missense_Mutation_p.P779A|NFATC4_uc001wpc.3_Missense_Mutation_p.P747A|NFATC4_uc010tor.2_Missense_Mutation_p.P747A|NFATC4_uc010tos.2_Missense_Mutation_p.P677A|NFATC4_uc010tot.2_Missense_Mutation_p.P735A|NFATC4_uc010tou.2_Missense_Mutation_p.P677A|NFATC4_uc010tov.2_Missense_Mutation_p.P735A|NFATC4_uc010tow.2_Missense_Mutation_p.P677A|NFATC4_uc010alv.3_Missense_Mutation_p.P735A|NFATC4_uc010tox.2_Missense_Mutation_p.P677A|NFATC4_uc001wpd.3_Missense_Mutation_p.P282A|NFATC4_uc010toy.2_Missense_Mutation_p.P282A|NFATC4_uc010toz.2_Missense_Mutation_p.P282A|NFATC4_uc010tpa.2_Missense_Mutation_p.P35A|NFATC4_uc010tpb.2_Missense_Mutation_p.P35A NM_001198966 NP_001185895 Q14934 NFAC4_HUMAN Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 4, mRNA. 747 Pro-rich. cell differentiation|inflammatory response|transcription from RNA polymerase II promoter cytoplasm|intermediate filament cytoskeleton|nucleus DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2) 34 GBM - Glioblastoma multiforme(265;0.018) TGGCATGCCCCCTCTGTACCC 0.617000 16 33 0 0 1 0 0 MCM9 254394 broad.mit.edu 37 6 119245206 119245206 + Missense_Mutation SNP T T A TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr6:119245206T>A uc021zeh.1 - 1 406 c.391A>T c.(391-393)Att>Ttt p.I131F MCM9_uc003pyh.3_Missense_Mutation_p.I131F NM_017696 NP_060166 Q9NXL9 MCM9_HUMAN Homo sapiens minichromosome maintenance complex component 9 (MCM9), transcript variant 1, mRNA. 131 DNA replication ATP binding|DNA binding|nucleoside-triphosphatase activity cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 all_cancers(87;0.122)|all_epithelial(87;0.179) GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194) CTTGTTCGAATCACTGTCCCA 0.448000 6 285 0 0 1 0 0 CSMD2 114784 broad.mit.edu 37 1 34037304 34037304 + Silent SNP A A G TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr1:34037304A>G uc001bxm.1 - 50 7962 c.7785T>C c.(7783-7785)agT>agC p.S2595S CSMD2_uc001bxn.1_Silent_p.S2597S NM_052896 NP_443128 Q7Z408 CSMD2_HUMAN Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA. 2597 Sushi 16. integral to membrane|plasma membrane protein binding NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1) 246 Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249) CGCTGATGCTACTGACATCAG 0.473000 18 45 0 0 1 0 0 STXBP5L 9515 broad.mit.edu 37 3 120941872 120941872 + Missense_Mutation SNP G G C TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr3:120941872G>C uc003eec.4 + 10 1119 c.979G>C c.(979-981)Ggt>Cgt p.G327R STXBP5L_uc011bji.2_Missense_Mutation_p.G327R NM_014980 NP_055795 Q9Y2K9 STB5L_HUMAN Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA. 327 exocytosis|protein transport cytoplasm|integral to membrane|plasma membrane NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1) 68 GBM - Glioblastoma multiforme(114;0.0694) AATATTCTCTGGTGGGCTGTC 0.363000 7 84 0 0 1 0 0 KDM6A 7403 broad.mit.edu 37 X 44929202 44929202 + Missense_Mutation SNP A A G TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chrX:44929202A>G uc011mkz.2 + 17 2833 c.2458A>G c.(2458-2460)Aag>Gag p.K820E KDM6A_uc022bvi.1_Missense_Mutation_p.K438E|KDM6A_uc010nhk.2_Missense_Mutation_p.K734E|KDM6A_uc004dge.4_Missense_Mutation_p.K768E|KDM6A_uc011mla.2_Missense_Mutation_p.K723E|KDM6A_uc011mlb.2_Missense_Mutation_p.K775E|KDM6A_uc011mlc.2_Missense_Mutation_p.K472E|KDM6A_uc022bvj.1_Missense_Mutation_p.K689E|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.K407E NM_021140 NP_066963 O15550 KDM6A_HUMAN Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA. 768 histone H3-K4 methylation metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen p.0?(6) NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29) 170 TGGAGATTCTAAGTCACCAGG 0.473000 """D, N, F, S""" """renal, oesophageal SCC, MM""" 26 21 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10114384 10114384 + Missense_Mutation SNP G G C TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr19:10114384G>C uc002mmq.1 - 5 792 c.706C>G c.(706-708)Cag>Gag p.Q236E NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 236 Nonhelical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent p.Q236L(1) NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) GGTTCACCCTGGGGAGCCTGG 0.607000 4 42 0 0 1 0 0 FOXR2 139628 broad.mit.edu 37 X 55650462 55650462 + Silent SNP C C T TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chrX:55650462C>T uc004duo.3 + 0 630 c.318C>T c.(316-318)aaC>aaT p.N106N NM_198451 NP_940853 Q6PJQ5 FOXR2_HUMAN Homo sapiens forkhead box R2 (FOXR2), mRNA. 106 embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development transcription factor complex DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1) 19 ATCTGACAAACATTTCTCCTT 0.542000 9 13 0 0 1 0 0 SH2D6 284948 broad.mit.edu 37 2 85663670 85663670 + Missense_Mutation SNP G G C TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr2:85663670G>C uc002spq.3 + 3 654 c.493G>C c.(493-495)Gaa>Caa p.E165Q SH2D6_uc002spo.3_Non-coding_Transcript|SH2D6_uc002spp.3_Non-coding_Transcript NM_198482 NP_940884 Q7Z4S9 SH2D6_HUMAN Homo sapiens SH2 domain containing 6 (SH2D6), mRNA. 165 SH2. central_nervous_system(1)|lung(2) 3 CGGCAGCCGGGAACTCACCTG 0.647000 14 61 0 0 1 0 0 NFXL1 152518 broad.mit.edu 37 4 47916171 47916171 + Frame_Shift_Del DEL C C - TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr4:47916171delC uc010igh.3 - 1 227 c.50delG c.(49-51)ggafs p.G17fs BC041434_uc003gxr.1_5'Flank|NFXL1_uc003gxp.3_Frame_Shift_Del_p.G17fs|NFXL1_uc003gxq.4_Non-coding_Transcript|NFXL1_uc010igi.3_Frame_Shift_Del_p.G17fs NM_152995 NP_694540 Q6ZNB6 NFXL1_HUMAN Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA. 17 integral to membrane|nucleus sequence-specific DNA binding transcription factor activity|zinc ion binding NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4) 27 AGTGGCCCGTCCCCGGGATCG 0.647 2 4 --- --- --- --- SP4 6671 broad.mit.edu 37 7 21468304 21468306 + In_Frame_Del DEL AGG AGG - TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr7:21468304_21468306delAGG uc003sva.3 + 1 198_200 c.17_19delAGG c.(16-21)aaggag>aag p.E11del SP4_uc003svb.3_5'UTR NM_003112 NP_003103 Q02446 SP4_HUMAN Homo sapiens Sp4 transcription factor (SP4), mRNA. 11 Poly-Glu. regulation of transcription from RNA polymerase II promoter nucleus DNA binding|transcription coactivator activity|zinc ion binding breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1) 35 GATCAGAAGAAGGAGGAGGAGGA 0.517 2 4 --- --- --- --- CHD2 1106 broad.mit.edu 37 15 93552546 93552547 + Frame_Shift_Ins INS - - G TCGA-E3-A3E3-01A-11D-A20C-08 TCGA-E3-A3E3-10A-01D-A20C-08 Untested Somatic Phase_I WXS none Illumina GAIIx 42777e66-8bee-408a-b462-e72f09904209 0e05f7f5-f01b-479b-9dde-821a7ed463dd g.chr15:93552546_93552547insG uc002bsp.3 + 34 5160_5161 c.4585_4586insG c.(4585-4587)tggfs p.W1529fs CHD2_uc002bso.1_Frame_Shift_Ins_p.W1529fs NM_001271 NP_001262 O14647 CHD2_HUMAN Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA. 1529 regulation of transcription from RNA polymerase II promoter nucleus ATP binding|ATP-dependent DNA helicase activity|DNA binding breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2) 47 Lung NSC(78;0.00976)|all_lung(78;0.016) BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814) CATCAAACTCTGGAGGAGGTAA 0.495 19 40 --- --- --- ---