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 RASA1 5921 broad.mit.edu 37 5 86676346 86676346 + Missense_Mutation SNP G G C TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr5:86676346G>C uc003kiw.3 + 19 2823 c.2624G>C c.(2623-2625)gGg>gCg p.G875A RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Missense_Mutation_p.G698A|RASA1_uc011ctv.2_Missense_Mutation_p.G708A|RASA1_uc011ctw.2_Missense_Mutation_p.G709A|RASA1_uc010jaw.3_Missense_Mutation_p.G697A NM_002890 NP_002881 P20936 RASA1_HUMAN Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA. 875 Ras-GAP. cytokinesis|embryo development|intracellular signal transduction|negative regulation of Ras protein signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|positive regulation of anti-apoptosis|regulation of RNA metabolic process|regulation of actin filament polymerization|regulation of cell shape|vasculogenesis cytosol|intrinsic to internal side of plasma membrane GTPase binding|Ras GTPase activator activity|glycoprotein binding|potassium channel inhibitor activity|receptor binding NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 48 all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423) OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31) TATATTTATGGGTGTTTACAG 0.363000 21 49 0 0 1 0 0 OGFOD2 79676 broad.mit.edu 37 12 123463748 123463748 + Missense_Mutation SNP T T G TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr12:123463748T>G uc001uea.1 + 6 929 c.908T>G c.(907-909)cTt>cGt p.L303R OGFOD2_uc001uds.1_Missense_Mutation_p.L139R|OGFOD2_uc001udv.1_Missense_Mutation_p.L139R|OGFOD2_uc001udt.1_Missense_Mutation_p.L139R|OGFOD2_uc001udu.1_Missense_Mutation_p.L139R|OGFOD2_uc009zxs.1_Missense_Mutation_p.L139R|OGFOD2_uc001udw.1_Missense_Mutation_p.L139R|OGFOD2_uc001udy.1_Missense_Mutation_p.L139R|OGFOD2_uc001udz.1_Missense_Mutation_p.L243R|OGFOD2_uc001ueb.1_Missense_Mutation_p.L139R|ARL6IP4_uc001uec.3_5'Flank|ARL6IP4_uc001ued.3_5'Flank|ARL6IP4_uc001uee.3_5'Flank|ARL6IP4_uc001uef.3_5'Flank|ARL6IP4_uc001ueg.3_5'Flank|ARL6IP4_uc009zxt.3_5'Flank|ARL6IP4_uc001uei.3_5'Flank NM_024623 NP_078899 Q6N063 OGFD2_HUMAN Homo sapiens 2-oxoglutarate and iron-dependent oxygenase domain containing 2 (OGFOD2), mRNA. 303 Fe2OG dioxygenase. L-ascorbic acid binding|iron ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen breast(1)|endometrium(2)|lung(4)|pancreas(1) 8 all_neural(191;0.0837)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107) Vitamin C(DB00126) CGTTGGAACCTTGTCGTCTGG 0.672000 25 76 0 0 1 0 0 abParts 0 broad.mit.edu 37 14 106175008 106175008 + Splice_Site SNP C C A TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr14:106175008C>A uc021ser.1 - 4439 c.68596_splice c.e4439-1 DKFZp686O16217_uc001yrs.3_Intron|DKFZp686O16217_uc001yrt.3_Intron|IGHE_uc001yrw.1_Intron|IGHE_uc001yrx.2_Intron|IGHE_uc001yrz.2_Intron Parts of antibodies, mostly variable regions. GATGCTGGAACACAGAATGCA 0.612000 14 42 0 0 1 0 0 NTSR2 23620 broad.mit.edu 37 2 11809697 11809697 + Missense_Mutation SNP G G A TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr2:11809697G>A uc002rbq.4 - 0 633 c.559C>T c.(559-561)Ccg>Tcg p.P187S NM_012344 NP_036476 O95665 NTR2_HUMAN Homo sapiens neurotensin receptor 2 (NTSR2), mRNA. 187 sensory perception integral to plasma membrane breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1) 17 all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155) Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24) Levocabastine(DB01106) GCGGGCTCCGGCTCCCCGTCC 0.711000 13 22 0 0 1 0 0 CYP4F11 57834 broad.mit.edu 37 19 16024590 16024590 + Silent SNP C C T TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr19:16024590C>T uc002nbu.2 - 12 1563 c.1527G>A c.(1525-1527)gaG>gaA p.E509E CYP4F11_uc010eab.1_3'UTR|CYP4F11_uc002nbt.2_Silent_p.E509E NM_001128932 NP_067010 Q9HBI6 CP4FB_HUMAN Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA. 509 inflammatory response|xenobiotic metabolic process endoplasmic reticulum membrane|integral to membrane|microsome aromatase activity|electron carrier activity|heme binding NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3) 25 AAAGTCCACCCTCTGCGCGCA 0.602000 4 38 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140477827 140477841 + In_Frame_Del DEL TGCTGAGGTGTAGGT TGCTGAGGTGTAGGT - TCGA-DJ-A3VL-01A-11D-A23M-08 TCGA-DJ-A3VL-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 66d03960-71e2-415a-8527-b210e9f352d5 e0555f5b-ce59-4a73-af30-715b60087a4a g.chr7:140477827_140477841delTGCTGAGGTGTAGGT uc003vwc.4 - 11 1528_1542 c.1467_1481delACCTACACCTCAGCA c.(1465-1482)gcacctacacctcagcag>gcg p.PTPQQ490del NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 490 Protein kinase. 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.L485_P490>Y(4)|p.N486_P490del(3) 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) GGCTTGTAACTGCTGAGGTGTAGGTGCTGTCACAT 0.353 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 4 54 --- --- --- ---