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 NCDN 23154 broad.mit.edu 37 1 36026232 36026232 + Silent SNP G G T rs139104373 TCGA-KK-A7AV-01A-11D-A32B-08 TCGA-KK-A7AV-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f3b9e81-6a08-4d69-9cfa-8a6b2debb441 ac932a61-4c1c-4987-96e1-97364aca3e20 g.chr1:36026232G>T ENST00000373243.2 + 3 863 c.480G>T c.(478-480)acG>acT p.T160T NCDN_ENST00000459931.1_3'UTR|NCDN_ENST00000356090.4_Silent_p.T160T|NCDN_ENST00000373253.3_Silent_p.T143T NM_014284.2 NP_055099.1 Q9UBB6 NCDN_HUMAN neurochondrin 160 neuron projection development cytosol|dendrite|neuronal cell body breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2) 16 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887) AGTGCCTGACGGCTGTAGCAG 0.617 4 78 --- --- --- --- COL11A1 1301 broad.mit.edu 37 1 103400616 103400616 + Splice_Site SNP A A T TCGA-KK-A7AV-01A-11D-A32B-08 TCGA-KK-A7AV-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f3b9e81-6a08-4d69-9cfa-8a6b2debb441 ac932a61-4c1c-4987-96e1-97364aca3e20 g.chr1:103400616A>T ENST00000358392.2 - 45 3845 c.3528T>A c.(3526-3528)gcT>gcA p.A1176A COL11A1_ENST00000353414.4_Splice_Site_p.A1125A|COL11A1_ENST00000370096.3_Splice_Site_p.A1164A|COL11A1_ENST00000512756.1_Splice_Site_p.A1048A NM_080629.2 NP_542196.2 P12107 COBA1_HUMAN collagen, type XI, alpha 1 1164 Triple-helical region. collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception collagen type XI extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1) 258 all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181) Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248) GAATACTCACAGCAATTCCAG 0.428 3 31 --- --- --- --- LYST 1130 broad.mit.edu 37 1 235973754 235973754 + Missense_Mutation SNP A A T TCGA-KK-A7AV-01A-11D-A32B-08 TCGA-KK-A7AV-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f3b9e81-6a08-4d69-9cfa-8a6b2debb441 ac932a61-4c1c-4987-96e1-97364aca3e20 g.chr1:235973754A>T ENST00000389794.3 - 5 538 c.364T>A c.(364-366)Tta>Ata p.L122I LYST_ENST00000536965.1_Missense_Mutation_p.L122I|LYST_ENST00000389793.2_Missense_Mutation_p.L122I Q99698 LYST_HUMAN lysosomal trafficking regulator 122 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 162 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) TCTAAATGTAATTTTTCCTGA 0.368 28 61 --- --- --- --- PLXNB1 5364 broad.mit.edu 37 3 48463187 48463187 + Missense_Mutation SNP C C A TCGA-KK-A7AV-01A-11D-A32B-08 TCGA-KK-A7AV-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f3b9e81-6a08-4d69-9cfa-8a6b2debb441 ac932a61-4c1c-4987-96e1-97364aca3e20 g.chr3:48463187C>A ENST00000358536.4 - 7 1818 c.1549G>T c.(1549-1551)Ggc>Tgc p.G517C PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G517C|PLXNB1_ENST00000456774.1_Missense_Mutation_p.G517C|PLXNB1_ENST00000296440.6_Missense_Mutation_p.G517C NM_002673.4 NP_002664.2 O43157 PLXB1_HUMAN plexin B1 517 axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 47 BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619) GGGCCCTGGCCCCTCGAGCAC 0.612 3 28 --- --- --- --- PAQR9 344838 broad.mit.edu 37 3 142681313 142681313 + Missense_Mutation SNP A A C TCGA-KK-A7AV-01A-11D-A32B-08 TCGA-KK-A7AV-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f3b9e81-6a08-4d69-9cfa-8a6b2debb441 ac932a61-4c1c-4987-96e1-97364aca3e20 g.chr3:142681313A>C ENST00000340634.3 - 1 865 c.866T>G c.(865-867)tTc>tGc p.F289C NM_198504.2 NP_940906.1 Q6ZVX9 PAQR9_HUMAN progestin and adipoQ receptor family member IX 289 integral to membrane receptor activity endometrium(2)|large_intestine(7)|lung(12)|prostate(1) 22 CACGTTGAAGAAGGCGGCCAC 0.587 7 45 --- --- --- --- GPR125 166647 broad.mit.edu 37 4 22415404 22415404 + Missense_Mutation SNP G G C TCGA-KK-A7AV-01A-11D-A32B-08 TCGA-KK-A7AV-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f3b9e81-6a08-4d69-9cfa-8a6b2debb441 ac932a61-4c1c-4987-96e1-97364aca3e20 g.chr4:22415404G>C ENST00000334304.5 - 13 2112 c.1843C>G c.(1843-1845)Cct>Gct p.P615A GPR125_ENST00000282943.5_Intron NM_145290.3 NP_660333.2 Q8IWK6 GP125_HUMAN G protein-coupled receptor 125 615 neuropeptide signaling pathway integral to membrane G-protein coupled receptor activity breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1) 56 Breast(46;0.198) AAAAGGGAAGGAGGAAGCTGA 0.348 11 41 --- --- --- --- PCDHB1 29930 broad.mit.edu 37 5 140432292 140432292 + Nonsense_Mutation SNP G G T TCGA-KK-A7AV-01A-11D-A32B-08 TCGA-KK-A7AV-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f3b9e81-6a08-4d69-9cfa-8a6b2debb441 ac932a61-4c1c-4987-96e1-97364aca3e20 g.chr5:140432292G>T ENST00000306549.3 + 1 1314 c.1237G>T c.(1237-1239)Gag>Tag p.E413* NM_013340.2 NP_037472.2 Q9Y5F3 PCDB1_HUMAN 413 Cadherin 4. homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1) 53 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTTGGATCGGGAGGAGGTCTC 0.458 29 104 --- --- --- --- SND1 27044 broad.mit.edu 37 7 127343360 127343360 + Missense_Mutation SNP G G T TCGA-KK-A7AV-01A-11D-A32B-08 TCGA-KK-A7AV-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f3b9e81-6a08-4d69-9cfa-8a6b2debb441 ac932a61-4c1c-4987-96e1-97364aca3e20 g.chr7:127343360G>T ENST00000354725.3 + 7 1017 c.823G>T c.(823-825)Ggt>Tgt p.G275C NM_014390.2 NP_055205.2 Q7KZF4 SND1_HUMAN staphylococcal nuclease and tudor domain containing 1 275 TNase-like 2. gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent melanosome|nucleus|RNA-induced silencing complex nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 41 GAACATTCTGGGTACCATCCT 0.488 7 35 --- --- --- --- FAM135B 51059 broad.mit.edu 37 8 139144959 139144959 + Silent SNP C C A TCGA-KK-A7AV-01A-11D-A32B-08 TCGA-KK-A7AV-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f3b9e81-6a08-4d69-9cfa-8a6b2debb441 ac932a61-4c1c-4987-96e1-97364aca3e20 g.chr8:139144959C>A ENST00000395297.1 - 20 4268 c.4098G>T c.(4096-4098)gtG>gtT p.V1366V NM_015912.3 NP_056996.2 Q49AJ0 F135B_HUMAN family with sequence similarity 135, member B 1366 NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1) 238 all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0805) GGGCGTGGAACACGTTGTGTC 0.532 HNSCC(54;0.14) 10 275 --- --- --- --- RAB38 23682 broad.mit.edu 37 11 87847227 87847227 + Missense_Mutation SNP C C T TCGA-KK-A7AV-01A-11D-A32B-08 TCGA-KK-A7AV-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f3b9e81-6a08-4d69-9cfa-8a6b2debb441 ac932a61-4c1c-4987-96e1-97364aca3e20 g.chr11:87847227C>T ENST00000243662.6 - 3 647 c.565G>A c.(565-567)Gag>Aag p.E189K RP11-164N3.3_ENST00000528458.1_RNA NM_022337.2 NP_071732.1 P57729 RAB38_HUMAN RAB38, member RAS oncogene family 189 protein transport|small GTPase mediated signal transduction melanosome|plasma membrane GTP binding|GTPase activity large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1) 11 Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123) ACGTCCGGCTCAATAGACTCC 0.463 12 104 --- --- --- --- ACAD10 80724 broad.mit.edu 37 12 112153743 112153743 + Silent SNP C C T rs112990162 byFrequency TCGA-KK-A7AV-01A-11D-A32B-08 TCGA-KK-A7AV-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f3b9e81-6a08-4d69-9cfa-8a6b2debb441 ac932a61-4c1c-4987-96e1-97364aca3e20 g.chr12:112153743C>T ENST00000455480.2 + 8 1239 c.1062C>T c.(1060-1062)gcC>gcT p.A354A ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_5'UTR|ACAD10_ENST00000549590.1_Silent_p.A323A|ACAD10_ENST00000313698.4_Silent_p.A323A NM_001136538.1 NP_001130010.1 Q6JQN1 ACD10_HUMAN acyl-CoA dehydrogenase family, member 10 323 acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5) 47 TTCCATCTGCCCATGCCATAG 0.517 6 132 --- --- --- --- MUC16 94025 broad.mit.edu 37 19 9061807 9061807 + Missense_Mutation SNP C C G TCGA-KK-A7AV-01A-11D-A32B-08 TCGA-KK-A7AV-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f3b9e81-6a08-4d69-9cfa-8a6b2debb441 ac932a61-4c1c-4987-96e1-97364aca3e20 g.chr19:9061807C>G ENST00000397910.4 - 3 25842 c.25639G>C c.(25639-25641)Gtg>Ctg p.V8547L NM_024690.2 NP_078966.2 Q8WXI7 MUC16_HUMAN mucin 16, cell surface associated 8549 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 GGCCATGGCACATCTCCAGGA 0.498 7 29 --- --- --- --- SPTBN4 57731 broad.mit.edu 37 19 41078060 41078060 + Silent SNP T T C TCGA-KK-A7AV-01A-11D-A32B-08 TCGA-KK-A7AV-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f3b9e81-6a08-4d69-9cfa-8a6b2debb441 ac932a61-4c1c-4987-96e1-97364aca3e20 g.chr19:41078060T>C ENST00000352632.3 + 34 7541 c.7455T>C c.(7453-7455)gcT>gcC p.A2485A SPTBN4_ENST00000593816.1_3'UTR|SPTBN4_ENST00000392025.1_Silent_p.A1228A|SPTBN4_ENST00000598249.1_Silent_p.A2485A Q9H254 SPTN4_HUMAN spectrin, beta, non-erythrocytic 4 2485 PH. actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport cytosol|nuclear matrix|PML body|spectrin actin binding|ankyrin binding|structural constituent of cytoskeleton breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1) 73 Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384) GCGAGGTGGCTAGTGACTACA 0.607 6 121 --- --- --- --- SIM2 6493 broad.mit.edu 37 21 38098585 38098585 + Missense_Mutation SNP A A G TCGA-KK-A7AV-01A-11D-A32B-08 TCGA-KK-A7AV-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f3b9e81-6a08-4d69-9cfa-8a6b2debb441 ac932a61-4c1c-4987-96e1-97364aca3e20 g.chr21:38098585A>G ENST00000290399.6 + 6 1322 c.709A>G c.(709-711)Agc>Ggc p.S237G SIM2_ENST00000430056.3_Missense_Mutation_p.S237G NM_005069.3 NP_005060.1 Q14190 SIM2_HUMAN single-minded family bHLH transcription factor 2 237 PAS 2. cell differentiation|nervous system development nucleus DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2) 16 GTTCAGGGCCAGCCTTGACCT 0.582 4 26 --- --- --- --- SSX5 6758 broad.mit.edu 37 X 48054447 48054447 + Missense_Mutation SNP G G A TCGA-KK-A7AV-01A-11D-A32B-08 TCGA-KK-A7AV-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f3b9e81-6a08-4d69-9cfa-8a6b2debb441 ac932a61-4c1c-4987-96e1-97364aca3e20 g.chrX:48054447G>A ENST00000311798.1 - 3 240 c.188C>T c.(187-189)gCt>gTt p.A63V SSX5_ENST00000347757.1_Intron|SSX5_ENST00000376923.1_Intron NM_021015.3 NP_066295.3 O60225 SSX5_HUMAN synovial sarcoma, X breakpoint 5 23 KRAB-related. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1) 18 ACCTACCCTAGCTTCTCCCCT 0.537 6 15 --- --- --- --- HCFC1 3054 broad.mit.edu 37 X 153216820 153216820 + Missense_Mutation SNP T T C TCGA-KK-A7AV-01A-11D-A32B-08 TCGA-KK-A7AV-11A-11D-A329-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7f3b9e81-6a08-4d69-9cfa-8a6b2debb441 ac932a61-4c1c-4987-96e1-97364aca3e20 g.chrX:153216820T>C ENST00000310441.7 - 22 6464 c.5498A>G c.(5497-5499)gAt>gGt p.D1833G HCFC1_ENST00000369984.4_Missense_Mutation_p.D1878G|HCFC1_ENST00000354233.3_Missense_Mutation_p.D1764G NM_005334.2 NP_005325.2 P51610 HCFC1_HUMAN host cell factor C1 (VP16-accessory protein) 1833 cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05) GACAGCATCATCTGGTGGCAG 0.542 5 128 --- --- --- ---