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 LILRB1 10859 broad.mit.edu 37 19 55145098 55145098 + Missense_Mutation SNP G G A TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr19:55145098G>A uc002qgm.3 + 7 1436 c.1271G>A c.(1270-1272)gGg>gAg p.G424E LILRB1_uc010erp.1_Intron|LILRB1_uc002qgj.3_Missense_Mutation_p.G424E|LILRB1_uc002qgl.3_Missense_Mutation_p.G424E|LILRB1_uc002qgk.3_Missense_Mutation_p.G424E|LILRB1_uc010erq.3_Intron|LILRB1_uc010err.3_Non-coding_Transcript NM_001081637 NP_001075106 Q8NHL6 LIRB1_HUMAN Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 2, mRNA. 424 regulation of immune response|response to virus integral to membrane|plasma membrane protein phosphatase 1 binding|receptor activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1) 74 GBM - Glioblastoma multiforme(193;0.0188) GGACCGTCTGGGGGCCCCAGC 0.612000 HNSCC(37;0.09) 13 8 0 0 1 0 0 SMARCD3 6604 broad.mit.edu 37 7 150936733 150936733 + Missense_Mutation SNP G G A TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr7:150936733G>A uc003wjs.3 - 10 1374 c.1273C>T c.(1273-1275)Cgc>Tgc p.R425C SMARCD3_uc003wjt.3_Missense_Mutation_p.R412C|SMARCD3_uc003wju.3_Missense_Mutation_p.R412C NM_001003801 NP_001003801 Q6STE5 SMRD3_HUMAN Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 (SMARCD3), transcript variant 3, mRNA. 425 cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent SWI/SNF complex|nBAF complex|npBAF complex|nucleoplasm nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2) 15 OV - Ovarian serous cystadenocarcinoma(82;0.00448) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) CTCTGGGAGCGGAGCAGGTCT 0.537000 15 112 0 0 1 0 0 SNX9 51429 broad.mit.edu 37 6 158342658 158342658 + Missense_Mutation SNP G G A TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr6:158342658G>A uc003qqv.1 + 9 1218 c.1045G>A c.(1045-1047)Gtt>Att p.V349I NM_016224 NP_057308 Q9Y5X1 SNX9_HUMAN Homo sapiens sorting nexin 9 (SNX9), mRNA. 349 PX. cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network 1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding p.E348*(2) central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1) 20 Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167) OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05) AGAAAGTGAAGTTTTCCAGCA 0.428000 24 44 0 0 1 0 0 MIER2 54531 broad.mit.edu 37 19 334487 334487 + Silent SNP C C T TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr19:334487C>T uc002lok.1 - 2 165 c.156G>A c.(154-156)caG>caA p.Q52Q NM_017550 NP_060020 Q8N344 MIER2_HUMAN Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA. 52 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 22 all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304) UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18) CACTGTAGTTCTGTGACAGGA 0.597000 21 86 0 0 1 0 0 TRAK1 22906 broad.mit.edu 37 3 42167045 42167045 + Missense_Mutation SNP T T G TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr3:42167045T>G uc003cky.3 + 1 441 c.225T>G c.(223-225)atT>atG p.I75M TRAK1_uc011azh.2_Missense_Mutation_p.I75M|TRAK1_uc011azi.2_Missense_Mutation_p.I75M NM_001042646 NP_001036111 Q9UPV9 TRAK1_HUMAN Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA. 75 HAP1 N-terminal. endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter early endosome|mitochondrion|nucleus central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2) 22 CACCTCTCATTTCTCCAGATG 0.463000 50 99 0 0 1 0 0 MYH13 8735 broad.mit.edu 37 17 10265497 10265497 + Missense_Mutation SNP C C T TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr17:10265497C>T uc002gmk.1 - 4 533 c.443G>A c.(442-444)cGc>cAc p.R148H NM_003802 NP_003793 Q9UKX3 MYH13_HUMAN Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA. 148 Myosin head-like. muscle contraction muscle myosin complex|myofibril|myosin filament ATP binding|actin binding|calmodulin binding|microfilament motor activity breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2) 108 GGCCTCCTGGCGCTTTTTGCC 0.527000 63 121 0 0 1 0 0 PLEKHA5 54477 broad.mit.edu 37 12 19408022 19408022 + Missense_Mutation SNP A A G TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr12:19408022A>G uc010sie.2 + 4 463 c.355A>G c.(355-357)Ata>Gta p.I119V PLEKHA5_uc001rea.3_Missense_Mutation_p.I119V|PLEKHA5_uc001reb.3_Missense_Mutation_p.I119V|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc010sig.2_Missense_Mutation_p.I11V|PLEKHA5_uc010sih.1_Missense_Mutation_p.I11V|PLEKHA5_uc021qvy.1_Missense_Mutation_p.I11V NM_001143821 NP_001137293 Q9HAU0 PKHA5_HUMAN Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 2, mRNA. 119 1-phosphatidylinositol binding|protein binding autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804) GGAACGGCCAATAAGTATGAT 0.358000 21 57 0 0 1 0 0 PPL 5493 broad.mit.edu 37 16 4934540 4934540 + Silent SNP G G A TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr16:4934540G>A uc002cyd.1 - 21 4206 c.4116C>T c.(4114-4116)gcC>gcT p.A1372A NM_002705 NP_002696 O60437 PEPL_HUMAN Homo sapiens periplakin (PPL), mRNA. 1372 keratinization cytoskeleton|desmosome|mitochondrion|nucleus protein binding|structural constituent of cytoskeleton breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2) 62 CGATGCTCTCGGCAAAGGCGC 0.677000 29 211 0 0 1 0 0 CYP4F24P 388514 broad.mit.edu 37 19 15871692 15871692 + RNA SNP G G A TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr19:15871692G>A uc002nbo.3 - 8 c.1316C>T Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 24, pseudogene (CYP4F24P), non-coding RNA. GAGTTGAAGCGGAAGGGGTTG 0.577000 25 54 0 0 1 0 0 LEMD1 93273 broad.mit.edu 37 1 205350961 205350961 + Missense_Mutation SNP G G A TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr1:205350961G>A uc001hcj.2 - 5 506 c.371C>T c.(370-372)aCc>aTc p.T124I LEMD1_uc001hcl.2_Missense_Mutation_p.T83I|LEMD1_uc001hci.2_Missense_Mutation_p.P77S|LEMD1_uc001hcm.2_Non-coding_Transcript|LEMD1_uc001hcn.2_Missense_Mutation_p.P36S|LEMD1_uc001hck.2_Non-coding_Transcript|LOC284576_uc001hch.1_Intron NM_001199050 NP_001185979 Q68G75 LEMD1_HUMAN Homo sapiens LEM domain containing 1 (LEMD1), transcript variant 1, mRNA. 124 integral to membrane|nuclear envelope breast(1)|lung(2) 3 Breast(84;0.247) BRCA - Breast invasive adenocarcinoma(75;0.0938) TGTGATTCTGGTGCTTGGTGC 0.512000 54 108 0 0 1 0 0 LPAL2 80350 broad.mit.edu 37 6 160887731 160887732 + RNA INS - - C TCGA-ET-A40S-01A-11D-A23M-08 TCGA-ET-A40S-10A-01D-A23K-08 Untested Somatic Phase_I WXS none Illumina GAIIx 6ca41acc-aede-46b8-9b84-0e7db08d92f3 81b90d1a-50de-4b44-9223-da38169863a6 g.chr6:160887731_160887732insC uc003qtj.2 - 9 c.1823_1824insG Homo sapiens lipoprotein, Lp(a)-like 2, pseudogene (LPAL2), transcript variant 2, non-coding RNA. large_intestine(1)|lung(4) 5 Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.214) OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06) cctaatgctatcctcccccctc 0.495 2 4 --- --- --- ---