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 uc011lgn.2 + 1 949 c.900G>A c.(898-900)aaG>aaA p.K300K PDP1_uc003ygf.3_Silent_p.K266K|PDP1_uc003yge.3_Silent_p.K241K|PDP1_uc010max.3_Silent_p.K266K|PDP1_uc011lgm.2_Silent_p.K241K|PDP1_uc022ayg.1_Silent_p.K241K NM_001161778 NP_001155250 Q9P0J1 PDP1_HUMAN Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 1 (PDP1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 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 AMIGO2 347902 broad.mit.edu 37 12 47472140 47472140 + Missense_Mutation SNP G G A rs148297134 byFrequency 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.chr12:47472140G>A uc001rpm.3 - 2 1301 c.646C>T c.(646-648)Cca>Tca p.P216S FAM113B_uc001rpn.3_5'Flank|AMIGO2_uc001rpk.3_Missense_Mutation_p.P216S|AMIGO2_uc001rpl.3_Missense_Mutation_p.P216S|AMIGO2_uc021qxg.1_Missense_Mutation_p.P216S NM_001143668 NP_862830 Q86SJ2 AMGO2_HUMAN Homo sapiens adhesion molecule with Ig-like domain 2 (AMIGO2), transcript variant 1, mRNA. 216 heterophilic cell-cell adhesion|homophilic cell adhesion integral to membrane|nucleus|plasma membrane endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 Renal(347;0.138)|Lung SC(27;0.192) TGTTTTCCTGGCACTAAATTT 0.428000 3 43 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 uc001dep.3 + 18 3764 c.3734C>T c.(3733-3735)tCa>tTa p.S1245L LRRC7_uc009wbg.3_Missense_Mutation_p.S529L|LRRC7_uc001deq.3_Missense_Mutation_p.S486L NM_020794 NP_065845 Q96NW7 LRRC7_HUMAN Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA. 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 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 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 uc010ele.3 - 7 2131 c.2115C>T c.(2113-2115)gaC>gaT p.D705D SLC8A2_uc002pgx.3_Silent_p.D705D|SLC8A2_uc010xyq.2_Silent_p.D461D|SLC8A2_uc010xyr.2_Silent_p.D168D Q9UPR5 NAC2_HUMAN Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA. 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 uc001vjc.3 + 10 1732 c.1427A>T c.(1426-1428)gAa>gTa p.E476V PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.3_Missense_Mutation_p.E476V|PIBF1_uc010aep.3_Intron NM_006346 NP_006337 Q8WXW3 PIBF1_HUMAN Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA. 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 SORBS2 8470 broad.mit.edu 37 4 186545308 186545308 + Silent 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.chr4:186545308C>G uc003iyg.3 - 12 1637 c.1605G>C c.(1603-1605)gcG>gcC p.A535A SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.A521A|SORBS2_uc003iyl.3_Silent_p.A421A|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.A325A|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA. 421 Z disc|actin cytoskeleton|nucleus|perinuclear region of cytoplasm cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1) 53 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) GGGACCCCCACGCCATGGGGC 0.592000 3 43 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 uc003jhq.3 - 12 1430 c.1260G>C c.(1258-1260)caG>caC p.Q420H MTMR12_uc010iuk.3_Missense_Mutation_p.Q420H|MTMR12_uc010iul.3_Missense_Mutation_p.Q420H NM_001040446 NP_001035536 Q9C0I1 MTMRC_HUMAN Homo sapiens myotubularin related protein 12 (MTMR12), mRNA. 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 uc010krz.1 + 2 893 c.873C>T c.(871-873)ctC>ctT p.L291L HEATR2_uc003siz.2_Silent_p.L159L NM_017802 NP_060272 Q86Y56 HEAT2_HUMAN Homo sapiens HEAT repeat containing 2 (HEATR2), mRNA. 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