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 ALX3 257 broad.mit.edu 37 1 110604148 110604148 + Missense_Mutation SNP C C T TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr1:110604148C>T ENST00000369792.4 - 3 719 c.632G>A c.(631-633)cGc>cAc p.R211H RP4-773N10.4_ENST00000554749.1_RNA NM_006492.2 NP_006483.2 O95076 ALX3_HUMAN ALX homeobox 3 211 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 6 all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233) Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135) ATAACGCTCGCGCTTCCGCCA 0.622 23 42 --- --- --- --- PTPRC 5788 broad.mit.edu 37 1 198721481 198721481 + Missense_Mutation SNP T T C TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr1:198721481T>C ENST00000367376.2 + 30 3476 c.3305T>C c.(3304-3306)tTt>tCt p.F1102S PTPRC_ENST00000442510.2_Missense_Mutation_p.F1104S|PTPRC_ENST00000352140.3_Missense_Mutation_p.F1054S|PTPRC_ENST00000348564.6_Missense_Mutation_p.F943S|PTPRC_ENST00000594404.1_Missense_Mutation_p.F941S NM_002838.4 NP_002829.3 P08575 PTPRC_HUMAN protein tyrosine phosphatase, receptor type, C 1102 Tyrosine-protein phosphatase 2. axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway focal adhesion|integral to plasma membrane|membrane raft protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3) 111 CTTCGTGTCTTTGAACTGAGA 0.373 16 26 --- --- --- --- GRID2 2895 broad.mit.edu 37 4 94138039 94138039 + Missense_Mutation SNP G G T TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr4:94138039G>T ENST00000282020.4 + 6 1198 c.940G>T c.(940-942)Gat>Tat p.D314Y GRID2_ENST00000505687.1_3'UTR|GRID2_ENST00000510992.1_Missense_Mutation_p.D219Y NM_001510.2 NP_001501.2 O43424 GRID2_HUMAN glutamate receptor, ionotropic, delta 2 314 glutamate signaling pathway cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1) 100 Hepatocellular(203;0.114)|all_hematologic(202;0.177) OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191) L-Glutamic Acid(DB00142) TGATCCAAAGGATCCATTTGC 0.413 50 66 --- --- --- --- PDZD2 23037 broad.mit.edu 37 5 32089674 32089674 + Silent SNP G G A rs150986745 TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr5:32089674G>A ENST00000438447.1 + 20 6508 c.6120G>A c.(6118-6120)gcG>gcA p.A2040A PDZD2_ENST00000282493.3_Silent_p.A2040A O15018 PDZD2_HUMAN PDZ domain containing 2 2040 cell adhesion cell-cell junction|endoplasmic reticulum|extracellular region|nucleus NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1) 148 GTCCGGCAGCGTCTAGGAACG 0.647 12 248 --- --- --- --- TAB2 23118 broad.mit.edu 37 6 149700269 149700269 + Silent SNP A A G TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr6:149700269A>G ENST00000367456.1 + 4 1795 c.1218A>G c.(1216-1218)acA>acG p.T406T TAB2_ENST00000392282.1_Silent_p.T406T|TAB2_ENST00000536230.1_Silent_p.T374T|TAB2_ENST00000286332.5_Silent_p.T406T|TAB2_ENST00000538427.1_Silent_p.T406T Q9NYJ8 TAB2_HUMAN TGF-beta activated kinase 1/MAP3K7 binding protein 2 406 activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway cytosol|endosome membrane|plasma membrane K63-linked polyubiquitin binding|zinc ion binding breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1) 22 ATCAGCCCACACTCTTCATAT 0.502 13 25 --- --- --- --- AMZ1 155185 broad.mit.edu 37 7 2752278 2752278 + Missense_Mutation SNP A A C rs148314719 byFrequency TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr7:2752278A>C ENST00000312371.4 + 7 1631 c.1263A>C c.(1261-1263)gaA>gaC p.E421D AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_3'UTR NM_133463.1 NP_597720.1 Q400G9 AMZ1_HUMAN archaelysin family metallopeptidase 1 421 metallopeptidase activity|zinc ion binding breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1) 16 Ovarian(82;0.0779) OV - Ovarian serous cystadenocarcinoma(56;5.03e-14) TGCAGCGGGAAGTGGCAGAGG 0.692 16 25 --- --- --- --- VAV2 7410 broad.mit.edu 37 9 136857224 136857224 + Missense_Mutation SNP G G T TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr9:136857224G>T ENST00000371851.1 - 1 502 c.177C>A c.(175-177)gaC>gaA p.D59E VAV2_ENST00000406606.3_Missense_Mutation_p.D59E|VAV2_ENST00000486113.1_5'UTR|VAV2_ENST00000371850.3_Missense_Mutation_p.D59E P52735 VAV2_HUMAN vav 2 guanine nucleotide exchange factor 59 CH. angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol metal ion binding|Rho guanyl-nucleotide exchange factor activity breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1) 35 OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06) GGAAGTTGATGTCCTTGAGGT 0.726 8 17 --- --- --- --- PDE1B 5153 broad.mit.edu 37 12 54966490 54966490 + Missense_Mutation SNP A A G TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr12:54966490A>G ENST00000243052.3 + 7 1136 c.700A>G c.(700-702)Aca>Gca p.T234A PDE1B_ENST00000538346.1_Missense_Mutation_p.T193A|PDE1B_ENST00000550620.1_Missense_Mutation_p.T214A|PDE1B_ENST00000394277.3_3'UTR NM_000924.3 NP_000915.1 Q01064 PDE1B_HUMAN phosphodiesterase 1B, calmodulin-dependent 234 Catalytic (By similarity). activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation cytosol|nucleus 3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4) 31 TGTTACCCAGACAGTCCATTG 0.512 32 301 --- --- --- --- RYR3 6263 broad.mit.edu 37 15 33795933 33795933 + Silent SNP C C T TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr15:33795933C>T ENST00000389232.4 + 3 343 c.273C>T c.(271-273)ggC>ggT p.G91G RYR3_ENST00000415757.3_Silent_p.G91G NM_001036.3 NP_001027.3 Q15413 RYR3_HUMAN ryanodine receptor 3 91 cellular calcium ion homeostasis integral to membrane calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3) 311 all_lung(180;7.18e-09) all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363) AAAATGGCGGCGAAGGGGTGA 0.478 6 15 --- --- --- --- CNTNAP1 8506 broad.mit.edu 37 17 40843294 40843294 + Silent SNP C C T rs144310425 TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr17:40843294C>T ENST00000264638.4 + 14 2416 c.2199C>T c.(2197-2199)gaC>gaT p.D733D CTD-3193K9.3_ENST00000592440.1_RNA NM_003632.2 NP_003623.1 P78357 CNTP1_HUMAN contactin associated protein 1 733 Fibrinogen C-terminal. axon guidance|cell adhesion paranode region of axon receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 49 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.143) GCAACTGTGACGCTGACCAGC 0.632 65 109 --- --- --- --- MC3R 4159 broad.mit.edu 37 20 54823920 54823920 + Silent SNP G G T TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr20:54823920G>T ENST00000243911.2 + 1 133 c.21G>T c.(19-21)ctG>ctT p.L7L NM_019888.3 NP_063941.3 P41968 MC3R_HUMAN melanocortin 3 receptor 44 activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process integral to plasma membrane melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1) 26 Colorectal(105;0.202) CGTGCTGCCTGCCCTCTGTTC 0.567 66 117 --- --- --- --- CCT8L2 150160 broad.mit.edu 37 22 17071981 17071981 + Missense_Mutation SNP T T A TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr22:17071981T>A ENST00000359963.3 - 1 1719 c.1460A>T c.(1459-1461)aAt>aTt p.N487I NM_014406.4 NP_055221.1 Q96SF2 TCPQM_HUMAN chaperonin containing TCP1, subunit 8 (theta)-like 2 487 cellular protein metabolic process cytoplasm anion channel activity|ATP binding|calcium-activated potassium channel activity breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1) 67 all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977) all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175) CTGGGCCACATTTATTATCCC 0.517 64 92 --- --- --- --- KCNJ4 3761 broad.mit.edu 37 22 38823055 38823055 + Silent SNP C C G TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chr22:38823055C>G ENST00000303592.3 - 2 1341 c.1083G>C c.(1081-1083)ctG>ctC p.L361L RP3-434P1.6_ENST00000433230.1_RNA NM_004981.1|NM_152868.2 NP_004972.1|NP_690607.1 P48050 IRK4_HUMAN potassium inwardly-rectifying channel, subfamily J, member 4 361 synaptic transmission basolateral plasma membrane|voltage-gated potassium channel complex inward rectifier potassium channel activity|PDZ domain binding endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2) 23 Melanoma(58;0.0286) GTGGGGCGGGCAGCACGGTGA 0.642 4 59 --- --- --- --- PNPLA4 8228 broad.mit.edu 37 X 7880088 7880088 + Missense_Mutation SNP A A G TCGA-J4-A6M7-01A-11D-A31L-08 TCGA-J4-A6M7-10A-01D-A31J-08 Untested Somatic Phase_I WXS none Illumina GAIIx 68eadfba-d2ec-47a5-9ae8-cbbf066962e8 a8d17ab3-05e9-4f09-a76b-c5740ee14f41 g.chrX:7880088A>G ENST00000381042.4 - 5 628 c.458T>C c.(457-459)cTa>cCa p.L153P PNPLA4_ENST00000537427.1_Missense_Mutation_p.L66P|PNPLA4_ENST00000444736.1_Missense_Mutation_p.L153P NM_004650.2 NP_004641.1 P41247 PLPL4_HUMAN patatin-like phospholipase domain containing 4 153 Patatin. lipid catabolic process triglyceride lipase activity kidney(1)|large_intestine(3)|lung(2)|prostate(1) 7 Colorectal(8;0.0329)|Medulloblastoma(8;0.232) GTATTCCACTAGCTTCAGTCC 0.378 34 5 --- --- --- ---