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 TACR3 6870 broad.mit.edu 37 4 104510921 104510921 + Missense_Mutation SNP C C A TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr4:104510921C>A uc003hxe.1 - 4 1457 c.1316G>T c.(1315-1317)tGc>tTc p.C439F NM_001059 NP_001050 P29371 NK3R_HUMAN Homo sapiens tachykinin receptor 3 (TACR3), mRNA. 439 C -> F (in Ref. 3; CAA46291). integral to plasma membrane tachykinin receptor activity breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1) 51 Hepatocellular(203;0.217) UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08) CCTGCGAGAGCAGCCATTGAA 0.478000 4 174 0 0 1 0 0 NLRP6 171389 broad.mit.edu 37 11 281566 281566 + Missense_Mutation SNP A A G TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr11:281566A>G uc010qvs.2 + 3 1832 c.1832A>G c.(1831-1833)gAg>gGg p.E611G NLRP6_uc010qvt.2_Missense_Mutation_p.E611G NM_138329 NP_612202 P59044 NALP6_HUMAN Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA. 611 Poly-Glu. cytoplasm ATP binding breast(1)|skin(1)|upper_aerodigestive_tract(2) 4 all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762) all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122) GAGGAGGAGGAGGGAGAGGAG 0.662000 4 184 0 0 1 0 0 MAPRE1 22919 broad.mit.edu 37 20 31427653 31427653 + Missense_Mutation SNP G G T TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr20:31427653G>T uc002wyh.3 + 4 727 c.588G>T c.(586-588)ttG>ttT p.L196F NM_012325 NP_036457 Q15691 MARE1_HUMAN Homo sapiens microtubule-associated protein, RP/EB family, member 1 (MAPRE1), mRNA. 196 EB1 C-terminal.|Interaction with CDK5RAP2.|Interaction with MTUS2/TIP150. G2/M transition of mitotic cell cycle|cell division|cell proliferation|mitotic prometaphase|negative regulation of microtubule polymerization|protein localization to microtubule centrosome|cortical microtubule cytoskeleton|cytosol microtubule plus-end binding|protein C-terminus binding endometrium(2)|large_intestine(1)|lung(3)|prostate(2) 8 CAGCTGAGTTGATGCAGCAGG 0.587000 4 183 0 0 1 0 0 LMX1A 4009 broad.mit.edu 37 1 165322431 165322431 + Missense_Mutation SNP G G A TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr1:165322431G>A uc001gcz.2 - 2 339 c.145C>T c.(145-147)Cgg>Tgg p.R49W LMX1A_uc021pdz.1_Missense_Mutation_p.R49W NM_001174069 NP_796372 Q8TE12 LMX1A_HUMAN Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA. 49 LIM zinc-binding 1. nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4) 35 all_hematologic(923;0.248) TCGTTGAGCCGCAGCAGAAAC 0.607000 3 70 0 0 1 0 0 PIK3R5 23533 broad.mit.edu 37 17 8809033 8809033 + Missense_Mutation SNP C C T TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr17:8809033C>T uc002glt.3 - 3 293 c.226G>A c.(226-228)Gac>Aac p.D76N PIK3R5_uc010vuz.2_Missense_Mutation_p.D76N|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR NM_014308 NP_001238784 Q8WYR1 PI3R5_HUMAN Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA. 76 Heterodimerization (By similarity). platelet activation cytosol|membrane|nucleus breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1) 34 GTGAGCAGGTCGTAGGTGCCC 0.602000 8 14 0 0 1 0 0 BAZ2B 29994 broad.mit.edu 37 2 160289578 160289578 + Silent SNP A A G TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr2:160289578A>G uc002uao.3 - 8 1995 c.1590T>C c.(1588-1590)ccT>ccC p.P530P BAZ2B_uc002uap.3_Silent_p.P528P|BAZ2B_uc002uas.1_Silent_p.P467P|BAZ2B_uc002uaq.1_Silent_p.P458P|BAZ2B_uc002uar.1_Silent_p.P103P NM_013450 NP_038478 Q9UIF8 BAZ2B_HUMAN Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA. 530 P -> L (in dbSNP:rs3732287). regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1) 82 GTGAGGAAAAAGGGGTGCTAC 0.443000 3 190 0 0 1 0 0 MBNL3 55796 broad.mit.edu 37 X 131525027 131525027 + Missense_Mutation SNP C C T TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chrX:131525027C>T uc004ewv.4 - 3 1322 c.619G>A c.(619-621)Gaa>Aaa p.E207K AK095439_uc004ewr.1_Intron|MBNL3_uc004eww.3_Missense_Mutation_p.E111K|MBNL3_uc004ewt.3_Missense_Mutation_p.E157K|MBNL3_uc004ewx.2_Missense_Mutation_p.E157K|MBNL3_uc011muz.2_Missense_Mutation_p.E111K|MBNL3_uc004ewu.4_Missense_Mutation_p.E207K NM_018388 NP_001164175 Q9NUK0 MBNL3_HUMAN Homo sapiens muscleblind-like 3 (Drosophila) (MBNL3), transcript variant 1, mRNA. 207 RNA splicing|mRNA processing|multicellular organismal development|regulation of RNA splicing Golgi apparatus|nucleus nucleic acid binding|zinc ion binding NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2) 16 Acute lymphoblastic leukemia(192;0.000127) TCACTCGCTTCAATCATGGAA 0.468000 4 88 0 0 1 0 0 ZNF468 90333 broad.mit.edu 37 19 53344535 53344535 + Missense_Mutation SNP A A G TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr19:53344535A>G uc002qaf.3 - 3 1163 c.1012T>C c.(1012-1014)Tat>Cat p.Y338H ZNF468_uc002qae.3_Missense_Mutation_p.Y285H|ZNF468_uc021uzb.1_Missense_Mutation_p.Y285H NM_001008801 NP_954583 Q5VIY5 ZN468_HUMAN Homo sapiens zinc finger protein 468 (ZNF468), transcript variant 2, mRNA. 338 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1) 23 GBM - Glioblastoma multiforme(134;0.0358) TATGAATTATATGCGAAAGCC 0.368000 3 161 0 0 1 0 0 ZC3HC1 51530 broad.mit.edu 37 7 129666092 129666092 + Silent SNP G G T TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr7:129666092G>T uc003vpi.3 - 5 709 c.682C>A c.(682-684)Cga>Aga p.R228R ZC3HC1_uc010lma.3_Silent_p.R115R NM_016478 NP_057562 Q86WB0 NIPA_HUMAN Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA. 228 cell division|mitosis nucleus protein kinase binding|zinc ion binding p.H227R(1) endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1) 22 Melanoma(18;0.0435) TCATCAGTTCGGTGATCAAGT 0.448000 3 75 0 0 1 0 0 ACACA 31 broad.mit.edu 37 17 35603828 35603828 + Missense_Mutation SNP G G A TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr17:35603828G>A uc002hno.3 - 18 2887 c.2374C>T c.(2374-2376)Cgc>Tgc p.R792C ACACA_uc002hnk.3_Missense_Mutation_p.R677C|ACACA_uc002hnl.3_Missense_Mutation_p.R697C|ACACA_uc002hnm.3_Missense_Mutation_p.R755C|ACACA_uc002hnn.3_Missense_Mutation_p.R755C|ACACA_uc010cuz.3_Missense_Mutation_p.R755C NM_198834 NP_942135 Q13085 ACACA_HUMAN Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 1, mRNA. 755 Biotinyl-binding. 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 ATP binding|acetyl-CoA carboxylase activity|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) GAAGGTGAGCGCATCACCGAT 0.458000 4 149 0 0 1 0 0 DYNC1H1 1778 broad.mit.edu 37 14 102484914 102484914 + Silent SNP G G A rs77113510 byFrequency TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr14:102484914G>A uc001yks.2 + 40 8468 c.8304G>A c.(8302-8304)ccG>ccA p.P2768P DYNC1H1_uc001ykt.1_Silent_p.P259P NM_001376 NP_001367 Q14204 DYHC1_HUMAN Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA. 2768 AAA 3 (By similarity). G2/M transition of mitotic cell cycle|cytoplasmic mRNA processing body assembly|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport Golgi apparatus|centrosome|cytoplasmic dynein complex|cytosol|microtubule ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2) 166 ATGCAGAGCCGCTCACTGCTG 0.537000 3 57 0 0 1 0 0 EPX 8288 broad.mit.edu 37 17 56274516 56274516 + Missense_Mutation SNP C C T rs116223936 byFrequency TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr17:56274516C>T uc002ivq.3 + 6 1137 c.1018C>T c.(1018-1020)Cgc>Tgc p.R340C NM_000502 NP_000493 P11678 PERE_HUMAN Homo sapiens eosinophil peroxidase (EPX), mRNA. 340 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1) 48 CATCAACCAGCGCTTTCAAGA 0.647000 12 139 0 0 1 0 0 SERPINB2 5055 broad.mit.edu 37 18 61569116 61569116 + Splice_Site SNP G G A rs150189388 TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr18:61569116G>A uc010xeu.2 + 7 1011 c.678_splice c.e7+1 p.S226_splice SERPINB2_uc002ljo.3_Splice_Site_p.S226_splice|SERPINB2_uc002ljp.1_Splice_Site_p.S31_splice|SERPINB2_uc002ljq.1_Splice_Site_p.S31_splice NM_001143818 NP_002566 P05120 PAI2_HUMAN Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA. 226 anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis Golgi apparatus|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1) 32 Esophageal squamous(42;0.131) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013) GTGTAAACTCGGTATGAGACA 0.373000 6 95 0 0 1 0 0 ENPP1 5167 broad.mit.edu 37 6 132171140 132171140 + Nonsense_Mutation SNP C C A TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr6:132171140C>A uc011ecf.2 + 2 344 c.324C>A c.(322-324)tgC>tgA p.C108* NM_006208 NP_006199 P22413 ENPP1_HUMAN Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA. 108 SMB 1. 3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process basolateral plasma membrane|cell surface|extracellular space|integral to membrane ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 46 Breast(56;0.0505) GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022) Amifostine(DB01143)|Ribavirin(DB00811) TTAAAAGTTGCAAAGGTCGCT 0.378000 10 89 0 0 1 0 0 ATP8B2 57198 broad.mit.edu 37 1 154300618 154300618 + Missense_Mutation SNP A A T TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr1:154300618A>T uc001fex.3 + 1 100 c.100A>T c.(100-102)Atg>Ttg p.M34L ATP8B2_uc001few.3_Missense_Mutation_p.M1L|ATP8B2_uc001fey.1_5'Flank NM_020452 NP_065185 P98198 AT8B2_HUMAN Homo sapiens ATPase, class I, type 8B, member 2 (ATP8B2), transcript variant 1, mRNA. 0 ATP biosynthetic process plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity IL6R/ATP8B2(2) breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 51 all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877) LUSC - Lung squamous cell carcinoma(543;0.185) GCTGGGTGAGATGGCAGTGTG 0.552000 6 134 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 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 33 51 0 0 1 0 0 PPM1J 333926 broad.mit.edu 37 1 113257891 113257892 + Frame_Shift_Del DEL GT GT - TCGA-EM-A3FO-01A-11D-A21A-08 TCGA-EM-A3FO-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 17fb7cc7-8c35-4e3c-87f5-8a4a7c94dd92 18fa7eb0-d944-41c3-8588-d94561887693 g.chr1:113257891_113257892delGT uc001ect.1 - 0 59_60 c.32_33delAC c.(31-33)cacfs p.H11fs PPM1J_uc009wgl.1_5'Flank|PPM1J_uc001ecs.1_5'UTR NM_005167 NP_005158 Q5JR12 PPM1J_HUMAN Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA. 11 breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1) 14 Lung SC(450;0.246) all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05) Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) AGCTCACCAGGTGCGCCACGGC 0.802 3 4 --- --- --- ---