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 BICD1 636 broad.mit.edu 37 12 32480404 32480404 + Missense_Mutation SNP G G A TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr12:32480404G>A uc001rku.3 + 4 1096 c.1015G>A c.(1015-1017)Gaa>Aaa p.E339K BICD1_uc001rkv.3_Missense_Mutation_p.E339K|BICD1_uc010skd.2_Non-coding_Transcript NM_001714 NP_001705 Q96G01 BICD1_HUMAN Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA. 339 RNA processing|anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|stress granule assembly|viral reproduction cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network Rab GTPase binding|cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|structural constituent of cytoskeleton NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1) 46 all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204) OV - Ovarian serous cystadenocarcinoma(6;0.0201) GGTAGAGCGGGAAAAGGCCAT 0.507000 31 84 0 0 1 0 0 EPS8L1 54869 broad.mit.edu 37 19 55594786 55594786 + Missense_Mutation SNP G G A TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr19:55594786G>A uc002qis.4 + 12 1359 c.1255G>A c.(1255-1257)Gag>Aag p.E419K EPS8L1_uc010ess.1_Missense_Mutation_p.E401K|EPS8L1_uc010est.1_Missense_Mutation_p.E419K|EPS8L1_uc010yfr.2_Missense_Mutation_p.E355K|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_Missense_Mutation_p.E292K|EPS8L1_uc002qiv.3_Missense_Mutation_p.E65K|EPS8L1_uc002qiw.3_Missense_Mutation_p.E166K NM_133180 NP_573441 Q8TE68 ES8L1_HUMAN Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA. 419 cytoplasm NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1) 12 BRCA - Breast invasive adenocarcinoma(297;0.209) GBM - Glioblastoma multiforme(193;0.044) ATACAGACCCGAGTTCTTCAG 0.672000 3 17 0 0 1 0 0 ADAMTS8 11095 broad.mit.edu 37 11 130289047 130289047 + Silent SNP C C A TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr11:130289047C>A uc001qgg.4 - 1 1219 c.861G>T c.(859-861)ggG>ggT p.G287G NM_007037 NP_008968 Q9UP79 ATS8_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA. 287 Peptidase M12B. negative regulation of cell proliferation|proteolysis proteinaceous extracellular matrix heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1) 10 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213) GCAGTGTAAGCCCCCCATTGT 0.557000 80 184 0 0 1 0 0 CATSPERD 257062 broad.mit.edu 37 19 5749174 5749174 + Missense_Mutation SNP G G A TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr19:5749174G>A uc002mda.3 + 10 1028 c.967G>A c.(967-969)Gtg>Atg p.V323M CATSPERD_uc010duj.1_5'UTR NM_152784 NP_689997 Q86XM0 TM146_HUMAN Homo sapiens transmembrane protein 146 (TMEM146), mRNA. 323 integral to membrane TCTGGGCATCGTGCCAAGTTC 0.438000 24 41 0 0 1 0 0 ATP11C 286410 broad.mit.edu 37 X 138869347 138869347 + Missense_Mutation SNP C C G rs147128476 TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chrX:138869347C>G uc004faz.3 - 14 1685 c.1586G>C c.(1585-1587)aGa>aCa p.R529T ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.R529T NM_173694 NP_775965 Q8NB49 AT11C_HUMAN Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA. 529 ATP biosynthetic process integral to membrane|plasma membrane ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3) 75 Acute lymphoblastic leukemia(192;0.000127) TATTTCTTTTCTTTGGTTCTC 0.348000 22 59 0 0 1 0 0 DOCK2 1794 broad.mit.edu 37 5 169474617 169474617 + Splice_Site SNP G G A TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr5:169474617G>A uc003maf.3 + 40 4151 c.4071_splice c.e40+1 p.R1357_splice DOCK2_uc011der.2_Splice_Site|DOCK2_uc010jjm.3_Splice_Site_p.R849_splice NM_004946 NP_004937 Q92608 DOCK2_HUMAN Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA. 1357 DHR-2.|Interaction with CRKL. actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction cytoskeleton|cytosol|endomembrane system|membrane GTP binding|GTPase binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding|electron carrier activity|heme binding NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3) 160 Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337) Medulloblastoma(196;0.0399)|all_neural(177;0.0966) Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525) TCCTTCCTGCGGGTGAGTTTG 0.542000 5 83 0 0 1 0 0 ADRA2B 151 broad.mit.edu 37 2 96781258 96781258 + Missense_Mutation SNP C C A TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr2:96781258C>A uc021vlh.1 - 0 631 c.631G>T c.(631-633)Ggg>Tgg p.G211W NM_000682 NP_000673 P18089 ADA2B_HUMAN Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA. 211 G -> A (in dbSNP:rs9333568). activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation integral to plasma membrane alpha2-adrenergic receptor activity|epinephrine binding|protein binding endometrium(2)|large_intestine(2)|lung(9)|ovary(3) 16 Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392) CCAGGCCCCCCCTTGGCCCTG 0.622000 13 29 0 0 1 0 0 PPEF1 5475 broad.mit.edu 37 X 18807364 18807364 + Silent SNP A A G TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chrX:18807364A>G uc004cyq.3 + 12 1519 c.1038A>G c.(1036-1038)gaA>gaG p.E346E PPEF1_uc004cyp.3_Intron|PPEF1_uc004cyr.3_Silent_p.E346E|PPEF1_uc004cys.3_Silent_p.E346E|PPEF1_uc011mja.2_Silent_p.E281E|PPEF1_uc011mjb.2_Silent_p.E290E NM_006240 NP_006231 O14829 PPE1_HUMAN Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA. 346 Catalytic. detection of stimulus involved in sensory perception|protein dephosphorylation calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2) 43 Hepatocellular(33;0.183) CTCCTACTGAACACTTAACAG 0.418000 7 122 0 0 1 0 0 RNF148 378925 broad.mit.edu 37 7 122342453 122342453 + Missense_Mutation SNP C C T TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr7:122342453C>T uc003vkk.1 - 0 569 c.352G>A c.(352-354)Gtg>Atg p.V118M CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron NM_198085 NP_932351 Q8N7C7 RN148_HUMAN Homo sapiens ring finger protein 148 (RNF148), mRNA. 118 PA. integral to membrane zinc ion binding endometrium(2)|kidney(1)|large_intestine(6)|lung(7) 16 TCTGCTGCCACGTTGATTTTA 0.483000 31 271 0 0 1 0 0 DNAJB9 4189 broad.mit.edu 37 7 108213643 108213643 + Missense_Mutation SNP T T C TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr7:108213643T>C uc003vfn.3 + 2 887 c.518T>C c.(517-519)aTg>aCg p.M173T NM_012328 NP_036460 Q9UBS3 DNJB9_HUMAN Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 9 (DNAJB9), mRNA. 173 ER-associated protein catabolic process|protein folding endoplasmic reticulum|nucleolus heat shock protein binding|misfolded protein binding|unfolded protein binding central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1) 13 TTTGAAGATATGGAGAAAATG 0.393000 52 93 0 0 1 0 0 ZFP36 7538 broad.mit.edu 37 19 39898883 39898883 + Silent SNP G G A TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr19:39898883G>A uc002olh.1 + 1 583 c.525G>A c.(523-525)ccG>ccA p.P175P NM_003407 NP_003398 P26651 TTP_HUMAN Homo sapiens zinc finger protein 36, C3H type, homolog (mouse) (ZFP36), mRNA. 175 positive regulation of nuclear-transcribed mRNA poly(A) tail shortening cytosol|nucleus AU-rich element binding|DNA binding|mRNA binding|protein binding|single-stranded RNA binding|zinc ion binding large_intestine(1)|lung(5)|pancreas(1) 7 all_cancers(60;6.54e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.53e-06)|Ovarian(47;0.0512) Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657) TGGCGGCCCCGGGCCACCCTC 0.667000 48 96 0 0 1 0 0 TGFBRAP1 9392 broad.mit.edu 37 2 105924122 105924122 + Missense_Mutation SNP C C T TCGA-EL-A3ZK-01A-21D-A23M-08 TCGA-EL-A3ZK-11A-11D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx b0e1f945-6fff-42da-942f-700994b8480a 8390a8cb-3b27-42e8-950c-e57ee71dd5b9 g.chr2:105924122C>T uc002tcq.3 - 1 721 c.637G>A c.(637-639)Gtc>Atc p.V213I TGFBRAP1_uc002tcr.4_Missense_Mutation_p.V213I NM_004257 NP_004248 Q8WUH2 TGFA1_HUMAN Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA. 213 CNH. regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway cytoplasm|membrane SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1) 31 ATCCTCTTGACGATCGGCGGC 0.592000 13 161 0 0 1 0 0