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 SPTSSA 171546 broad.mit.edu 37 14 34931373 34931373 + Missense_Mutation SNP G G C TCGA-DJ-A2Q1-01A-22D-A19J-08 TCGA-DJ-A2Q1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 007aab66-2f07-459d-8952-3041d6ea24a8 ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2 g.chr14:34931373G>C uc001wsc.3 - 0 96 c.41C>G c.(40-42)tCc>tGc p.S14C NM_138288 NP_612145 Q969W0 SSPTA_HUMAN Homo sapiens serine palmitoyltransferase, small subunit A (SPTSSA), mRNA. 14 sphingolipid biosynthetic process integral to membrane|serine C-palmitoyltransferase complex protein binding GTAGAACCAGGACATCTGCTT 0.697000 4 16 0 0 1 0 0 DYNC1I1 1780 broad.mit.edu 37 7 95442507 95442507 + Splice_Site SNP G G A TCGA-DJ-A2Q1-01A-22D-A19J-08 TCGA-DJ-A2Q1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 007aab66-2f07-459d-8952-3041d6ea24a8 ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2 g.chr7:95442507G>A uc003uoc.4 + 4 501 c.224_splice c.e4-1 p.V75_splice DYNC1I1_uc003uod.4_Intron|DYNC1I1_uc003uob.3_Intron|DYNC1I1_uc003uoe.4_Splice_Site_p.V75_splice|DYNC1I1_uc010lfl.3_Intron NM_004411 NP_004402 O14576 DC1I1_HUMAN Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA. 75 Interaction with DCTN1 (By similarity). vesicle transport along microtubule condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle microtubule binding|microtubule motor activity NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1) 54 all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191) STAD - Stomach adenocarcinoma(171;0.0957) CTCTTCACCAGTGCAGCCGCT 0.413000 36 76 0 0 1 0 0 WNK4 65266 broad.mit.edu 37 17 40948252 40948253 + Missense_Mutation DNP GC GC AG TCGA-DJ-A2Q1-01A-22D-A19J-08 TCGA-DJ-A2Q1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 007aab66-2f07-459d-8952-3041d6ea24a8 ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2 g.chr17:40948252_40948253GC>AG uc002ibj.3 + 16 3611_3612 c.3543_3544GC>AG c.(3541-3546)atgctg>atAGtg p.1181_1182ML>IV WNK4_uc010wgx.2_Missense_Mutation_p.845_846ML>IV|CCDC56_uc010wgz.1_Intron|CNTD1_uc002ibm.4_5'Flank|CNTD1_uc010wha.2_5'Flank NM_032387 NP_115763 Q96J92 WNK4_HUMAN Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA. 1181 intracellular protein kinase cascade tight junction ATP binding|protein serine/threonine kinase activity NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1) 35 Breast(137;0.000143) BRCA - Breast invasive adenocarcinoma(366;0.0749) CAGCTGCTATGCTGTCCAGCCG 0.609000 7 17 0 0 1 0 0 METRNL 284207 broad.mit.edu 37 17 81042863 81042863 + Missense_Mutation SNP C C T TCGA-DJ-A2Q1-01A-22D-A19J-08 TCGA-DJ-A2Q1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 007aab66-2f07-459d-8952-3041d6ea24a8 ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2 g.chr17:81042863C>T uc002kgh.3 + 1 345 c.220C>T c.(220-222)Cgc>Tgc p.R74C METRNL_uc002kgi.3_5'UTR NM_001004431 NP_001004431 Q641Q3 METRL_HUMAN Homo sapiens meteorin, glial cell differentiation regulator-like (METRNL), mRNA. 74 extracellular region endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1) 8 Breast(20;0.000443)|all_neural(118;0.0779) BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868) GGTGTATCTGCGCTGTGCGGC 0.652000 5 62 0 0 1 0 0 ATR 545 broad.mit.edu 37 3 142278216 142278216 + Silent SNP A A G TCGA-DJ-A2Q1-01A-22D-A19J-08 TCGA-DJ-A2Q1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 007aab66-2f07-459d-8952-3041d6ea24a8 ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2 g.chr3:142278216A>G uc003eux.4 - 6 1731 c.1609T>C c.(1609-1611)Ttg>Ctg p.L537L NM_001184 NP_001175 Q13535 ATR_HUMAN Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA. 537 DNA damage checkpoint|DNA repair|DNA replication|cell cycle|cellular response to UV|cellular response to gamma radiation|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence PML body ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4) 122 TAAAAATCCAATGACATCCAA 0.363000 Other conserved DNA damage response genes 20 34 0 0 1 0 0 C15orf39 56905 broad.mit.edu 37 15 75501019 75501019 + Missense_Mutation SNP C C T TCGA-DJ-A2Q1-01A-22D-A19J-08 TCGA-DJ-A2Q1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 007aab66-2f07-459d-8952-3041d6ea24a8 ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2 g.chr15:75501019C>T uc002azp.4 + 1 2950 c.2630C>T c.(2629-2631)aCg>aTg p.T877M C15orf39_uc002azq.4_Missense_Mutation_p.T877M|C15orf39_uc021sqm.1_Missense_Mutation_p.T636M|C15orf39_uc002azr.4_Missense_Mutation_p.T275M NM_015492 NP_056307 Q6ZRI6 CO039_HUMAN Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA. 877 autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1) 16 CGGCCCACCACGCTGTCGGAG 0.667000 4 15 0 0 1 0 0 TRIP12 9320 broad.mit.edu 37 2 230664036 230664036 + Nonsense_Mutation SNP G G T TCGA-DJ-A2Q1-01A-22D-A19J-08 TCGA-DJ-A2Q1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 007aab66-2f07-459d-8952-3041d6ea24a8 ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2 g.chr2:230664036G>T uc002vpx.1 - 21 3298 c.3189C>A c.(3187-3189)taC>taA p.Y1063* TRIP12_uc021vxw.1_Nonsense_Mutation_p.Y1048*|TRIP12_uc002vpy.1_Nonsense_Mutation_p.Y745*|TRIP12_uc002vpw.1_Nonsense_Mutation_p.Y1015*|TRIP12_uc010zlz.1_Non-coding_Transcript NM_004238 NP_004229 Q14669 TRIPC_HUMAN Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA. 1015 protein ubiquitination involved in ubiquitin-dependent protein catabolic process proteasome complex thyroid hormone receptor binding|ubiquitin-protein ligase activity p.Y1015*(1) breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 87 Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164) Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116) TTGGAGGTGAGTACTTTGGCC 0.428000 18 77 0 0 1 0 0 CD209 30835 broad.mit.edu 37 19 7810588 7810588 + Missense_Mutation SNP C C G rs112592254 TCGA-DJ-A2Q1-01A-22D-A19J-08 TCGA-DJ-A2Q1-10A-01D-A19M-08 Untested Somatic Phase_I WXS none Illumina GAIIx 007aab66-2f07-459d-8952-3041d6ea24a8 ae3bdd94-c5b3-4d12-9b54-00ad13bdd3a2 g.chr19:7810588C>G uc002mht.2 - 3 631 c.564G>C c.(562-564)aaG>aaC p.K188N CD209_uc010xju.1_Intron|CD209_uc010dvp.2_Missense_Mutation_p.K164N|CD209_uc002mhr.2_Missense_Mutation_p.K164N|CD209_uc002mhs.2_Missense_Mutation_p.K164N|CD209_uc002mhu.2_Intron|CD209_uc010dvq.2_Missense_Mutation_p.K188N|CD209_uc002mhq.2_Missense_Mutation_p.K188N|CD209_uc002mhv.2_Missense_Mutation_p.K164N|CD209_uc002mhx.2_Missense_Mutation_p.K144N|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Intron NM_021155 NP_066978 Q9NNX6 CD209_HUMAN Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA. 188 7 X approximate tandem repeats. cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor cytoplasm|extracellular region|integral to membrane|plasma membrane mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 TCTCCTGCTGCTTAGATTTCT 0.557000 13 130 0 0 1 0 0