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 PDP1 54704 broad.mit.edu 37 8 94935010 94935010 + Silent SNP G G A TCGA-DJ-A2PN-01A-21D-A19J-08 TCGA-DJ-A2PN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21790cd9-ca3e-4af4-bd4d-cba0375dbe9b 8be82b32-7274-49fe-a25d-25f462b502c0 g.chr8:94935010G>A ENST00000396200.3 + 3 1074 c.798G>A c.(796-798)aaG>aaA p.K266K PDP1_ENST00000517764.1_Silent_p.K241K|PDP1_ENST00000520728.1_Silent_p.K241K|PDP1_ENST00000297598.4_Silent_p.K241K NM_001161779.1 NP_001155251.1 Q9P0J1 PDP1_HUMAN pyruvate dehyrogenase phosphatase catalytic subunit 1 241 pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate mitochondrial matrix|protein serine/threonine phosphatase complex [pyruvate dehydrogenase (lipoamide)] phosphatase activity breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2) 18 ATGCCTTCAAGAGGCTTGATA 0.443000 40 53 0 0 1 0 0 PARG 8505 broad.mit.edu 37 10 51093329 51093329 + Missense_Mutation SNP C C T TCGA-DJ-A2PN-01A-21D-A19J-08 TCGA-DJ-A2PN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21790cd9-ca3e-4af4-bd4d-cba0375dbe9b 8be82b32-7274-49fe-a25d-25f462b502c0 g.chr10:51093329C>T ENST00000402038.3 - 4 294 c.295G>A c.(295-297)Gca>Aca p.A99T NM_003631.2 NP_003622.2 Q86W56 PARG_HUMAN poly (ADP-ribose) glycohydrolase 584 carbohydrate metabolic process nucleus poly(ADP-ribose) glycohydrolase activity p.A584T(1) endometrium(5)|kidney(2)|lung(1)|ovary(2) 10 Epithelial(53;0.213) TGAGCTTCTGCTTCTTCAAGT 0.318000 3 40 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713773 142713773 + RNA SNP C C G TCGA-DJ-A2PN-01A-21D-A19J-08 TCGA-DJ-A2PN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21790cd9-ca3e-4af4-bd4d-cba0375dbe9b 8be82b32-7274-49fe-a25d-25f462b502c0 g.chr1:142713773C>G ENST00000369381.2 - 0 832 TCTTTTTCCACATTGTCATTT 0.284000 4 50 0 0 1 0 0 FRG1B 0 broad.mit.edu 37 20 29628263 29628263 + Missense_Mutation SNP A A G TCGA-DJ-A2PN-01A-21D-A19J-08 TCGA-DJ-A2PN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21790cd9-ca3e-4af4-bd4d-cba0375dbe9b 8be82b32-7274-49fe-a25d-25f462b502c0 g.chr20:29628263A>G ENST00000278882.3 + 6 645 c.265A>G c.(265-267)Att>Gtt p.I89V FRG1B_ENST00000439954.2_Missense_Mutation_p.I94V|FRG1B_ENST00000358464.4_Missense_Mutation_p.I89V p.I89V(4) endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9) 53 TAGCTGCTTTATTAGATGCAA 0.363000 7 122 0 0 1 0 0 LRRC7 57554 broad.mit.edu 37 1 70505355 70505355 + Missense_Mutation SNP C C T TCGA-DJ-A2PN-01A-21D-A19J-08 TCGA-DJ-A2PN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21790cd9-ca3e-4af4-bd4d-cba0375dbe9b 8be82b32-7274-49fe-a25d-25f462b502c0 g.chr1:70505355C>T ENST00000310961.5 + 22 4167 c.3749C>T c.(3748-3750)tCa>tTa p.S1250L LRRC7_ENST00000415775.2_Missense_Mutation_p.S529L|LRRC7_ENST00000035383.5_Missense_Mutation_p.S1245L Q96NW7 LRRC7_HUMAN leucine rich repeat containing 7 1245 centrosome|focal adhesion|nucleolus protein binding breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2) 162 GACAAGCCATCAGATAACAGT 0.463000 31 32 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-DJ-A2PN-01A-21D-A19J-08 TCGA-DJ-A2PN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21790cd9-ca3e-4af4-bd4d-cba0375dbe9b 8be82b32-7274-49fe-a25d-25f462b502c0 g.chr7:140453136A>T ENST00000288602.6 - 15 1859 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333.4 NP_004324.2 P15056 BRAF_HUMAN v-raf murine sarcoma viral oncogene homolog B 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(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(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 28 47 0 0 1 0 0 SLC8A2 6543 broad.mit.edu 37 19 47935698 47935698 + Silent SNP G G A TCGA-DJ-A2PN-01A-21D-A19J-08 TCGA-DJ-A2PN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21790cd9-ca3e-4af4-bd4d-cba0375dbe9b 8be82b32-7274-49fe-a25d-25f462b502c0 g.chr19:47935698G>A ENST00000236877.6 - 9 2510 c.2115C>T c.(2113-2115)gaC>gaT p.D705D SLC8A2_ENST00000539381.1_Silent_p.D168D|SLC8A2_ENST00000542837.1_Silent_p.D461D|SLC8A2_ENST00000601757.1_5'UTR NM_015063.2 NP_055878.1 Q9UPR5 NAC2_HUMAN solute carrier family 8 (sodium/calcium exchanger), member 2 705 cell communication|platelet activation integral to membrane|plasma membrane calcium:sodium antiporter activity|calmodulin binding breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1) 31 all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173) OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457) CCTCCTCCTCGTCCCCTGTGG 0.592000 5 82 0 0 1 0 0 PIBF1 10464 broad.mit.edu 37 13 73468026 73468026 + Missense_Mutation SNP A A T TCGA-DJ-A2PN-01A-21D-A19J-08 TCGA-DJ-A2PN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21790cd9-ca3e-4af4-bd4d-cba0375dbe9b 8be82b32-7274-49fe-a25d-25f462b502c0 g.chr13:73468026A>T ENST00000326291.6 + 11 1765 c.1427A>T c.(1426-1428)gAa>gTa p.E476V NM_006346.2 NP_006337.2 Q8WXW3 PIBF1_HUMAN progesterone immunomodulatory binding factor 1 476 centrosome breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 24 Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865) GBM - Glioblastoma multiforme(99;0.000664) CTGCAAGAGGAAACAGCAAGA 0.338000 27 32 0 0 1 0 0 SLC6A10P 0 broad.mit.edu 37 16 32890639 32890639 + RNA SNP T T C rs79284655 TCGA-DJ-A2PN-01A-21D-A19J-08 TCGA-DJ-A2PN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21790cd9-ca3e-4af4-bd4d-cba0375dbe9b 8be82b32-7274-49fe-a25d-25f462b502c0 g.chr16:32890639T>C ENST00000330048.5 - 0 3159 NR_003083.2 ACCAGCGGCTTGTAGTACACA 0.627000 3 14 0 0 1 0 0 MTMR12 54545 broad.mit.edu 37 5 32239191 32239191 + Missense_Mutation SNP C C G TCGA-DJ-A2PN-01A-21D-A19J-08 TCGA-DJ-A2PN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21790cd9-ca3e-4af4-bd4d-cba0375dbe9b 8be82b32-7274-49fe-a25d-25f462b502c0 g.chr5:32239191C>G ENST00000382142.3 - 13 1430 c.1260G>C c.(1258-1260)caG>caC p.Q420H MTMR12_ENST00000280285.5_Missense_Mutation_p.Q420H|MTMR12_ENST00000264934.5_Missense_Mutation_p.Q420H NM_001040446.1 NP_001035536.1 Q9C0I1 MTMRC_HUMAN myotubularin related protein 12 420 Myotubularin phosphatase. cytoplasm phosphatase activity breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1) 34 GGATGAGGCTCTGGAAACCAA 0.542000 4 39 0 0 1 0 0 HEATR2 54919 broad.mit.edu 37 7 780548 780548 + Silent SNP C C T TCGA-DJ-A2PN-01A-21D-A19J-08 TCGA-DJ-A2PN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21790cd9-ca3e-4af4-bd4d-cba0375dbe9b 8be82b32-7274-49fe-a25d-25f462b502c0 g.chr7:780548C>T ENST00000297440.6 + 3 893 c.873C>T c.(871-873)ctC>ctT p.L291L HEATR2_ENST00000438961.1_3'UTR|HEATR2_ENST00000313147.5_Silent_p.L291L NM_017802.3 NP_060272.3 Q86Y56 HEAT2_HUMAN HEAT repeat containing 2 291 protein binding breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1) 22 Ovarian(82;0.0112) UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14) CTCTGCTGCTCAGTAGCCTCA 0.627000 7 94 0 0 1 0 0 VGLL3 389136 broad.mit.edu 37 3 87017871 87017871 + Missense_Mutation SNP G G A TCGA-DJ-A2PN-01A-21D-A19J-08 TCGA-DJ-A2PN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21790cd9-ca3e-4af4-bd4d-cba0375dbe9b 8be82b32-7274-49fe-a25d-25f462b502c0 g.chr3:87017871G>A ENST00000398399.2 - 3 1169 c.806C>T c.(805-807)gCg>gTg p.A269V VGLL3_ENST00000383698.3_Missense_Mutation_p.A269V NM_016206.2 NP_057290.2 A8MV65 VGLL3_HUMAN vestigial like 3 (Drosophila) 269 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11) 19 all_cancers(8;0.109)|Lung SC(3;0.184) Lung NSC(201;0.0777) LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712) AATCCTGGCCGCATGCACTGA 0.572000 3 20 0 0 1 0 0 RP11-417J8.6 0 broad.mit.edu 37 1 142713774 142713774 + RNA SNP A A G TCGA-DJ-A2PN-01A-21D-A19J-08 TCGA-DJ-A2PN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21790cd9-ca3e-4af4-bd4d-cba0375dbe9b 8be82b32-7274-49fe-a25d-25f462b502c0 g.chr1:142713774A>G ENST00000369381.2 - 0 831 CTTTTTCCACATTGTCATTTT 0.284000 4 52 0 0 1 0 0 SRGAP2B 0 broad.mit.edu 37 1 144043905 144043906 + RNA INS - - G TCGA-DJ-A2PN-01A-21D-A19J-08 TCGA-DJ-A2PN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21790cd9-ca3e-4af4-bd4d-cba0375dbe9b 8be82b32-7274-49fe-a25d-25f462b502c0 g.chr1:144043905_144043906insG ENST00000467933.1 + 0 1108 tcgctcacgctggagctgtaga 0.535 3 6 --- --- --- --- RP1-85F18.5 0 broad.mit.edu 37 22 41586192 41586194 + RNA DEL CAA CAA - rs76554533 TCGA-DJ-A2PN-01A-21D-A19J-08 TCGA-DJ-A2PN-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 21790cd9-ca3e-4af4-bd4d-cba0375dbe9b 8be82b32-7274-49fe-a25d-25f462b502c0 g.chr22:41586192_41586194delCAA ENST00000420537.1 - 0 223 TCTTCAAAGGCaaaaaaaaaaaa 0.414 3 4 --- --- --- ---