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 HRNR 388697 broad.mit.edu 37 1 152192307 152192307 + Missense_Mutation SNP G G T TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr1:152192307G>T ENST00000368801.2 - 3 1873 c.1798C>A c.(1798-1800)Cac>Aac p.H600N FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA NM_001009931.1 NP_001009931.1 Q86YZ3 HORN_HUMAN hornerin 600 keratinization calcium ion binding|protein binding p.H600N(1) autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6) 192 Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127) LUSC - Lung squamous cell carcinoma(543;0.206) CTAGATCCGTGTTGACCGTAG 0.557 47 427 --- --- --- --- PCDHA4 56144 broad.mit.edu 37 5 140187163 140187163 + Missense_Mutation SNP C C A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr5:140187163C>A ENST00000530339.1 + 1 391 c.391C>A c.(391-393)Ccg>Acg p.P131T PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.P131T|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.P131T NM_018907.2 NP_061730.1 p.P131T(2) breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 78 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) CGATAACCCGCCGGTGTTCCC 0.592 4 150 --- --- --- --- CD109 135228 broad.mit.edu 37 6 74491004 74491004 + Missense_Mutation SNP C C A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr6:74491004C>A ENST00000437994.2 + 17 2356 c.1925C>A c.(1924-1926)aCa>aAa p.T642K CD109_ENST00000287097.5_Missense_Mutation_p.T642K|CD109_ENST00000422508.2_Missense_Mutation_p.T565K NM_001159587.1|NM_133493.3 NP_001153059.1|NP_598000.2 Q6YHK3 CD109_HUMAN CD109 molecule 642 Bait region (approximate) (By similarity). anchored to membrane|extracellular space|plasma membrane serine-type endopeptidase inhibitor activity p.T642K(2) NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 63 TGGGTATTGACAGATGCAAAC 0.318 3 72 --- --- --- --- MKLN1 4289 broad.mit.edu 37 7 131172448 131172448 + Silent SNP T T G TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr7:131172448T>G ENST00000352689.6 + 18 2209 c.2169T>G c.(2167-2169)acT>acG p.T723T MKLN1_ENST00000421797.2_Silent_p.T631T|MKLN1_ENST00000498778.1_3'UTR NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs 723 signal transduction cytoplasm protein binding p.T723T(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) ACAGCATGACTCCTCCTAAAG 0.433 12 56 --- --- --- --- MKLN1 4289 broad.mit.edu 37 7 131172449 131172449 + Missense_Mutation SNP C C A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr7:131172449C>A ENST00000352689.6 + 18 2210 c.2170C>A c.(2170-2172)Cct>Act p.P724T MKLN1_ENST00000421797.2_Missense_Mutation_p.P632T|MKLN1_ENST00000498778.1_3'UTR NM_013255.4 NP_037387.2 Q9UL63 MKLN1_HUMAN muskelin 1, intracellular mediator containing kelch motifs 724 signal transduction cytoplasm protein binding p.P724T(1) breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1) 28 Melanoma(18;0.162) CAGCATGACTCCTCCTAAAGG 0.433 12 56 --- --- --- --- PXDNL 137902 broad.mit.edu 37 8 52320734 52320734 + Silent SNP G G T TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr8:52320734G>T ENST00000356297.4 - 17 3550 c.3450C>A c.(3448-3450)atC>atA p.I1150I PXDNL_ENST00000543296.1_Silent_p.I1150I NM_144651.4 NP_653252 A1KZ92 PXDNL_HUMAN peroxidasin homolog (Drosophila)-like 1150 hydrogen peroxide catabolic process extracellular space heme binding|peroxidase activity p.I349I(1)|p.I1150I(1) NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2) 48 all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015) CATATGGTGGGATCCCGTGGT 0.448 20 163 --- --- --- --- RASEF 158158 broad.mit.edu 37 9 85597623 85597623 + Missense_Mutation SNP G G A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr9:85597623G>A ENST00000376447.3 - 17 2452 c.2192C>T c.(2191-2193)tCa>tTa p.S731L NM_152573.2 NP_689786.2 Q8IZ41 RASEF_HUMAN RAS and EF-hand domain containing 731 protein transport|small GTPase mediated signal transduction perinuclear region of cytoplasm calcium ion binding|GTP binding p.S731L(1) NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1) 33 CATCTGTGGTGACTTTTTGGA 0.413 22 178 --- --- --- --- KIF11 3832 broad.mit.edu 37 10 94390060 94390060 + Missense_Mutation SNP A A G TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr10:94390060A>G ENST00000260731.3 + 12 1523 c.1433A>G c.(1432-1434)gAa>gGa p.E478G NM_004523.3 NP_004514.2 P52732 KIF11_HUMAN kinesin family member 11 478 blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole ATP binding|microtubule motor activity|protein kinase binding p.E478G(1) breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 CTTGTTAAAGAAGAATATATC 0.343 7 46 --- --- --- --- COL17A1 1308 broad.mit.edu 37 10 105798253 105798253 + Missense_Mutation SNP G G A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr10:105798253G>A ENST00000353479.5 - 45 3271 c.2981C>T c.(2980-2982)cCg>cTg p.P994L COL17A1_ENST00000369733.3_Missense_Mutation_p.P949L NM_000494.3 NP_000485.3 Q9UMD9 COHA1_HUMAN collagen, type XVII, alpha 1 994 Triple-helical region. cell-matrix adhesion|epidermis development|hemidesmosome assembly basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane protein binding p.P994L(2) NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1) 62 Colorectal(252;0.103)|Breast(234;0.122) Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165) GGGCCCTGGCGGGCCTGACAC 0.597 23 165 --- --- --- --- ARHGAP20 57569 broad.mit.edu 37 11 110450382 110450382 + Silent SNP C C T TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr11:110450382C>T ENST00000260283.4 - 16 3572 c.3288G>A c.(3286-3288)agG>agA p.R1096R ARHGAP20_ENST00000528829.1_Silent_p.R1060R|ARHGAP20_ENST00000529591.1_Silent_p.R639R|ARHGAP20_ENST00000357139.3_Silent_p.R1070R|ARHGAP20_ENST00000533353.1_Silent_p.R1070R|ARHGAP20_ENST00000527598.1_Silent_p.R1060R|ARHGAP20_ENST00000524756.1_Silent_p.R1073R NM_020809.3 NP_065860.2 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 1096 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity p.R1096R(1) breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1) 60 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) CTTCAGCTGCCCTTAAGGGCA 0.522 4 139 --- --- --- --- ARID2 196528 broad.mit.edu 37 12 46243943 46243943 + Missense_Mutation SNP A A T TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr12:46243943A>T ENST00000334344.6 + 15 2209 c.2037A>T c.(2035-2037)caA>caT p.Q679H ARID2_ENST00000444670.1_Missense_Mutation_p.Q289H|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.Q530H NM_152641.2 NP_689854.2 Q68CP9 ARID2_HUMAN AT rich interactive domain 2 (ARID, RFX-like) 679 chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|protein binding|zinc ion binding p.Q679H(1) NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2) 116 Lung SC(27;0.192)|Renal(347;0.236) Lung NSC(34;0.106)|all_lung(34;0.22) OV - Ovarian serous cystadenocarcinoma(5;0.00691) GBM - Glioblastoma multiforme(48;0.0153) CTGTGGCACAAACTGTTTCAA 0.413 """N, S, F""" hepatocellular carcinoma 17 125 --- --- --- --- RCBTB2 1102 broad.mit.edu 37 13 49076874 49076874 + Missense_Mutation SNP C C A TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr13:49076874C>A ENST00000344532.3 - 11 1526 c.1103G>T c.(1102-1104)cGc>cTc p.R368L RCBTB2_ENST00000430805.2_Missense_Mutation_p.R373L|RCBTB2_ENST00000544492.1_Missense_Mutation_p.R94L NM_001268.2 NP_001259.1 O95199 RCBT2_HUMAN regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 368 Ran guanyl-nucleotide exchange factor activity p.R368L(1) breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3) 31 all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301) GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116) GGAGAGGAGGCGCCACGTGAC 0.577 15 106 --- --- --- --- RASA3 22821 broad.mit.edu 37 13 114780695 114780695 + Silent SNP C C T TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr13:114780695C>T ENST00000334062.7 - 14 1516 c.1395G>A c.(1393-1395)aaG>aaA p.K465K RASA3_ENST00000389544.4_Silent_p.K433K NM_007368.2 NP_031394.2 Q14644 RASA3_HUMAN RAS p21 protein activator 3 465 Ras-GAP. intracellular signal transduction|negative regulation of Ras protein signal transduction cytoplasm|intrinsic to internal side of plasma membrane calcium-release channel activity|metal ion binding|Ras GTPase activator activity p.K465K(1) breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2) 47 Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218) all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188) BRCA - Breast invasive adenocarcinoma(86;0.128) CCTGGAAGCGCTTGGCCGCCG 0.627 5 145 --- --- --- --- ZNF585B 92285 broad.mit.edu 37 19 37677246 37677246 + Missense_Mutation SNP G G C TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr19:37677246G>C ENST00000532828.2 - 5 1444 c.1193C>G c.(1192-1194)aCa>aGa p.T398R ZNF585B_ENST00000527838.1_3'UTR|ZNF585B_ENST00000312908.5_5'UTR|ZNF585B_ENST00000531805.1_Missense_Mutation_p.T343R|CTC-454I21.3_ENST00000585860.2_Intron NM_152279.3 NP_689492.3 Q52M93 Z585B_HUMAN zinc finger protein 585B 398 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus nucleic acid binding|zinc ion binding p.T398R(1) NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1) 29 COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177) CTGATGCACTGTGAGTGCTGA 0.413 3 91 --- --- --- --- DSN1 79980 broad.mit.edu 37 20 35399437 35399437 + Missense_Mutation SNP C C T TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr20:35399437C>T ENST00000426836.1 - 3 566 c.194G>A c.(193-195)tGt>tAt p.C65Y DSN1_ENST00000373745.3_Missense_Mutation_p.C65Y|DSN1_ENST00000373734.4_Intron|DSN1_ENST00000373740.3_Intron|DSN1_ENST00000473615.1_Intron|DSN1_ENST00000448110.2_Missense_Mutation_p.C49Y|DSN1_ENST00000373750.4_Missense_Mutation_p.C65Y NM_001145316.1 NP_001138788.1 Q9H410 DSN1_HUMAN DSN1, MIS12 kinetochore complex component 65 cell division|chromosome segregation|mitotic prometaphase cytosol|MIS12/MIND type complex|nucleus protein binding p.C65Y(1) endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 16 Myeloproliferative disorder(115;0.00874) GCTGAGATCACAATTTCCCCC 0.478 11 186 --- --- --- --- SUSD2 56241 broad.mit.edu 37 22 24581177 24581177 + Missense_Mutation SNP G G C TCGA-G9-6336-01A-11D-1786-08 TCGA-G9-6336-10A-01D-1786-08 Untested Somatic Phase_I WXS none Illumina GAIIx ab318624-db9d-41d8-b7b8-34712434f28f aefe7099-96e0-481c-bbfe-1566024df395 g.chr22:24581177G>C ENST00000358321.3 + 6 1159 c.898G>C c.(898-900)Gag>Cag p.E300Q NM_019601.3 NP_062547.1 Q9UGT4 SUSD2_HUMAN sushi domain containing 2 300 AMOP. immune response integral to membrane polysaccharide binding|protein binding|scavenger receptor activity p.E300Q(1) NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 26 GGAGGAGCTGGAGGATCAGCT 0.672 10 46 --- --- --- ---