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 NPAS2 4862 broad.mit.edu 37 2 101598737 101598737 + Silent SNP A A G TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr2:101598737A>G uc010yvt.1 + 15 1724 c.1722A>G c.(1720-1722)ctA>ctG p.L574L NPAS2_uc002tap.1_Silent_p.L509L|NPAS2_uc010fit.1_Silent_p.L87L NM_002518 NP_002509 Q99743 NPAS2_HUMAN Homo sapiens neuronal PAS domain protein 2 (NPAS2), mRNA. 509 central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process transcription factor complex DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity p.A573A(1) cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 AAGACCAGCTAGAGCAGCGGA 0.527000 4 55 0 0 1 0 0 EXPH5 23086 broad.mit.edu 37 11 108384325 108384325 + Missense_Mutation SNP C C T TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr11:108384325C>T uc001pkk.3 - 5 2020 c.1909G>A c.(1909-1911)Gac>Aac p.D637N EXPH5_uc010rvz.2_Missense_Mutation_p.D481N|EXPH5_uc010rvy.2_Missense_Mutation_p.D449N NM_015065 NP_055880 Q149M6 Q149M6_HUMAN Homo sapiens exophilin 5 (EXPH5), mRNA. 637 intracellular protein transport Rab GTPase binding breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1) 91 all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16) Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184) TTCCTTCTGTCATCAGAAATC 0.408000 10 91 0 0 1 0 0 CDH12 1010 broad.mit.edu 37 5 22078769 22078769 + Missense_Mutation SNP C C G TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr5:22078769C>G uc010iuc.2 - 1 475 c.17G>C c.(16-18)tGt>tCt p.C6S CDH12_uc011cno.1_Missense_Mutation_p.C6S|CDH12_uc003jgk.2_Missense_Mutation_p.C6S NM_004061 NP_004052 P55289 CAD12_HUMAN Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA. 6 adherens junction organization|cell junction assembly|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 120 CAGGGATAAACAGTTCCTTGT 0.448000 HNSCC(59;0.17) 29 55 0 0 1 0 0 LPL 4023 broad.mit.edu 37 8 19811648 19811648 + Missense_Mutation SNP C C T TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr8:19811648C>T uc003wzk.4 + 4 929 c.559C>T c.(559-561)Cct>Tct p.P187S NM_000237 NP_000228 P06858 LIPL_HUMAN Homo sapiens lipoprotein lipase (LPL), mRNA. 187 fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1) 36 Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216) Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083) TCCAGCTGGACCTAACTTTGA 0.453000 27 50 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 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 14 40 0 0 1 0 0 MAST2 23139 broad.mit.edu 37 1 46501483 46501483 + Silent SNP C C T TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr1:46501483C>T uc001cov.3 + 28 5425 c.5142C>T c.(5140-5142)gcC>gcT p.A1714A MAST2_uc001cow.3_Silent_p.A1713A|MAST2_uc001cpa.3_Non-coding_Transcript NM_015112 NP_055927 Q6P0Q8 MAST2_HUMAN Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA. 1714 regulation of interleukin-12 biosynthetic process|spermatid differentiation cytoplasm|cytoskeleton|plasma membrane ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity breast(1)|lung(3)|ovary(5)|stomach(2) 11 Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184) CCAGACTGGCCCATCCATCTT 0.577000 4 85 0 0 1 0 0 CEACAM5 1048 broad.mit.edu 37 19 42213808 42213808 + Missense_Mutation SNP G G C TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr19:42213808G>C uc002orl.3 + 1 395 c.274G>C c.(274-276)Ggg>Cgg p.G92R CEACAM5_uc010ehz.1_Missense_Mutation_p.G92R|CEACAM5_uc002orj.1_Missense_Mutation_p.G92R NM_004363 NP_004354 P06731 CEAM5_HUMAN Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA. 92 Ig-like 1. anchored to membrane|basolateral plasma membrane|integral to plasma membrane breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1) 34 OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142) AGCTACCCCAGGGCCCGCATA 0.473000 6 223 0 0 1 0 0 RGS21 431704 broad.mit.edu 37 1 192321267 192321267 + Missense_Mutation SNP C C T TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr1:192321267C>T uc001gsh.3 + 3 353 c.179C>T c.(178-180)aCg>aTg p.T60M NM_001039152 NP_001034241 Q2M5E4 RGS21_HUMAN Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA. 60 RGS. negative regulation of signal transduction cytoplasm|plasma membrane GTPase activator activity|signal transducer activity NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1) 15 TTTAAGAAAACGAAAAATGCA 0.348000 3 16 0 0 1 0 0 SLC25A3 5250 broad.mit.edu 37 12 98991696 98991696 + Silent SNP T T G TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr12:98991696T>G uc001tfo.3 + 3 465 c.345T>G c.(343-345)ggT>ggG p.G115G SLC25A3_uc001tfm.3_Silent_p.G114G|SLC25A3_uc001tfn.3_Silent_p.G114G|SLC25A3_uc001tfp.3_Silent_p.G114G|SLC25A3_uc001tfq.3_5'UTR|SLC25A3_uc001tfr.3_Silent_p.G115G|SLC25A3_uc001tfs.3_Silent_p.G71G|SNORA53_uc001tfu.1_5'Flank NM_005888 NP_005879 Q00325 MPCP_HUMAN Homo sapiens solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3 (SLC25A3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 115 generation of precursor metabolites and energy integral to plasma membrane|mitochondrial inner membrane phosphate carrier activity|symporter activity breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1) 16 Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255) GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115) AAGAGGATGGTGTTCGTGGTT 0.393000 27 51 0 0 1 0 0 LIFR 3977 broad.mit.edu 37 5 38511959 38511959 + Silent SNP G G A TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr5:38511959G>A uc010ive.1 - 5 1001 c.669C>T c.(667-669)taC>taT p.Y223Y LIFR_uc003jli.2_Silent_p.Y223Y NM_001127671 NP_002301 P42702 LIFR_HUMAN Homo sapiens leukemia inhibitory factor receptor alpha (LIFR), transcript variant 1, mRNA. 223 positive regulation of cell proliferation extracellular region|integral to plasma membrane ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2) 78 all_lung(31;0.00021) GATTGTCAATGTAGCATCTAA 0.393000 T PLAG1 salivary adenoma 12 29 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 8962361 8962361 + Frame_Shift_Del DEL C C - TCGA-ET-A3BS-01A-11D-A202-08 TCGA-ET-A3BS-10A-01D-A202-08 Untested Somatic Phase_I WXS none Illumina GAIIx f353a576-14db-4817-9ac8-64d6328adab8 6d88ce09-4e88-4449-a114-ad99a7f5f873 g.chr19:8962361delC uc002mkp.3 - 81 43542 c.43338delG c.(43336-43338)gggfs p.G14446fs MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Frame_Shift_Del_p.G1246fs|MUC16_uc021uog.1_Non-coding_Transcript NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 13920 SEA 16. Missing (in Ref. 3; AAK74120). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 TACCAGAATTCCCAGTTAAGG 0.478 2 4 --- --- --- ---