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 MAN1A1 4121 broad.mit.edu 37 6 119569448 119569448 + Silent SNP A A C TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr6:119569448A>C uc003pym.1 - 5 1411 c.969T>G c.(967-969)ccT>ccG p.P323P MAN1A1_uc010kei.2_Silent_p.P346P NM_005907 NP_005898 P33908 MA1A1_HUMAN Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA. 323 post-translational protein modification|protein N-linked glycosylation via asparagine ER-Golgi intermediate compartment|Golgi membrane|endoplasmic reticulum|integral to membrane|membrane fraction calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3) 24 all_epithelial(87;0.173) OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115) GCAATGCCCAAGGTATTCCAG 0.343000 10 29 0 0 1 0 0 GPR101 83550 broad.mit.edu 37 X 136112376 136112376 + Missense_Mutation SNP G G T TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chrX:136112376G>T uc011mwh.2 - 0 1458 c.1458C>A c.(1456-1458)gaC>gaA p.D486E NM_054021 NP_473362 Q96P66 GP101_HUMAN Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA. 486 integral to membrane|plasma membrane G-protein coupled receptor activity autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1) 42 Acute lymphoblastic leukemia(192;0.000127) TTCCGGGCAGGTCTGGGTGGC 0.478000 22 77 0 0 1 0 0 GPR4 2828 broad.mit.edu 37 19 46094655 46094655 + Missense_Mutation SNP T T A TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr19:46094655T>A uc002pcm.3 - 1 1415 c.470A>T c.(469-471)gAg>gTg p.E157V OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Missense_Mutation_p.E157V NM_005282 NP_005273 P46093 GPR4_HUMAN Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA. 157 integral to plasma membrane G-protein coupled receptor activity breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 23 OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223) TCGGAAGAGCTCGTCATGGAA 0.652000 11 85 0 0 1 0 0 TNNT3 7140 broad.mit.edu 37 11 1956128 1956128 + Missense_Mutation SNP G G C TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr11:1956128G>C uc001luu.4 + 13 872 c.660G>C c.(658-660)aaG>aaC p.K220N TNNT3_uc001lun.2_Missense_Mutation_p.K116N|TNNT3_uc001luw.4_Missense_Mutation_p.K212N|TNNT3_uc001luo.4_Missense_Mutation_p.K212N|TNNT3_uc001lup.4_Missense_Mutation_p.K218N|TNNT3_uc001luq.4_Missense_Mutation_p.K212N|TNNT3_uc001lur.3_Missense_Mutation_p.K212N|TNNT3_uc010qxf.2_Missense_Mutation_p.K218N|TNNT3_uc010qxg.2_Missense_Mutation_p.K152N NM_006757 NP_006748 P45378 TNNT3_HUMAN Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA. 231 muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction cytosol|troponin complex calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1) 19 all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229) BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826) TTGGGGAGAAGCTGAAACGCC 0.612000 31 108 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 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 11 56 0 0 1 0 0 PHKA2 5256 broad.mit.edu 37 X 18913268 18913268 + Silent SNP C C T TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chrX:18913268C>T uc004cyv.4 - 30 3754 c.3324G>A c.(3322-3324)tcG>tcA p.S1108S PHKA2_uc010nfe.1_Silent_p.S140S|PHKA2_uc010nff.1_Non-coding_Transcript NM_000292 NP_000283 P46019 KPB2_HUMAN Homo sapiens phosphorylase kinase, alpha 2 (liver) (PHKA2), mRNA. 1108 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) CTCGGGTCGTCGAGGATGGGA 0.527000 25 89 0 0 1 0 0 KRT9 3857 broad.mit.edu 37 17 39725743 39725743 + Missense_Mutation SNP G G A TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr17:39725743G>A uc002hxe.4 - 3 1045 c.979C>T c.(979-981)Cgt>Tgt p.R327C JUP_uc010wfs.2_Intron NM_000226 NP_000217 P35527 K1C9_HUMAN Homo sapiens keratin 9 (KRT9), mRNA. 327 Coil 2.|Rod. intermediate filament organization|skin development protein binding|structural constituent of cytoskeleton p.R327H(1) autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 25 Breast(137;0.000307) TACTCCTGACGCATGTCATTG 0.502000 9 47 0 0 1 0 0 PELI1 57162 broad.mit.edu 37 2 64323399 64323399 + Missense_Mutation SNP T T C TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr2:64323399T>C uc002sct.4 - 5 1010 c.550A>G c.(550-552)Acc>Gcc p.T184A PELI1_uc002scr.4_Missense_Mutation_p.T5A|PELI1_uc002scs.4_Missense_Mutation_p.T184A NM_020651 NP_065702 Q96FA3 PELI1_HUMAN Homo sapiens pellino homolog 1 (Drosophila) (PELI1), mRNA. 184 MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|innate immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway cytosol central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1) 19 CCATTAGTGGTCAAGCCATCC 0.428000 5 66 0 0 1 0 0 AGPAT6 137964 broad.mit.edu 37 8 41470441 41470442 + Missense_Mutation DNP GC GC AT TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr8:41470441_41470442GC>AT uc003xnz.2 + 7 1812_1813 c.873_874GC>AT c.(871-876)gagcgc>gaATgc p.R292C NM_178819 NP_848934 Q86UL3 GPAT4_HUMAN Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) (AGPAT6), mRNA. 292 acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process endoplasmic reticulum membrane|integral to membrane|membrane fraction glycerol-3-phosphate O-acyltransferase activity endometrium(3)|kidney(2)|large_intestine(3)|lung(6) 14 Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211) all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844) OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147) TCTGGTTTGAGCGCTCGGAAGT 0.550000 OREG0018739 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 5 14 0 0 1 0 0 GJA3 2700 broad.mit.edu 37 13 20716349 20716349 + Frame_Shift_Del DEL G G - TCGA-EL-A4JX-01A-12D-A257-08 TCGA-EL-A4JX-11A-11D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 8fc9f8a6-5a37-4f2b-b160-6e1f06a433dd 7edd3289-ff98-4237-a5bf-a3ece719e294 g.chr13:20716349delG uc001umx.1 - 1 1251 c.1079delC c.(1078-1080)ccgfs p.P360fs GJA3_uc021rgz.1_Frame_Shift_Del_p.P360fs NM_021954 NP_068773 Q9Y6H8 CXA3_HUMAN Homo sapiens gap junction protein, alpha 3, 46kDa (GJA3), mRNA. 360 cell-cell signaling|visual perception connexon complex|integral to membrane NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822) all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784) CGCGAGTGGCGGGGAGCTGCT 0.766 2 4 --- --- --- ---