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 SRSF12 135295 broad.mit.edu 37 6 89808601 89808601 + Missense_Mutation SNP G G C TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr6:89808601G>C uc021zcq.1 - 4 676 c.482C>G c.(481-483)tCt>tGt p.S161C NM_080743 NP_542781 Q8WXF0 SRS12_HUMAN Homo sapiens serine/arginine-rich splicing factor 12 (SRSF12), mRNA. 161 Arg/Ser-rich (RS domain). assembly of spliceosomal tri-snRNP|cytoplasmic transport|negative regulation of nuclear mRNA splicing, via spliceosome|nuclear mRNA 5'-splice site recognition|regulation of alternative nuclear mRNA splicing, via spliceosome nucleoplasm RNA binding|RS domain binding|nucleotide binding|unfolded protein binding autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4) 8 TGCTGAGGTAGACCGCCTTGG 0.428000 44 123 0 0 1 0 0 FMR1 2332 broad.mit.edu 37 X 147026458 147026458 + Missense_Mutation SNP C C T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chrX:147026458C>T uc010nst.3 + 14 1770 c.1541C>T c.(1540-1542)tCa>tTa p.S514L FMR1_uc004fcj.3_Missense_Mutation_p.S491L|FMR1_uc022cgc.1_Intron|FMR1_uc022cgd.1_Non-coding_Transcript|FMR1_uc004fck.4_Intron|FMR1_uc022cge.1_Missense_Mutation_p.S493L|FMR1_uc022cgf.1_Intron|FMR1_uc022cgg.1_Non-coding_Transcript|FMR1_uc004fcl.4_Missense_Mutation_p.S354L|FMR1_uc011mxa.2_Missense_Mutation_p.S161L NM_002024 NP_002015 Q06787 FMR1_HUMAN Homo sapiens fragile X mental retardation 1 (FMR1), transcript variant ISO1, mRNA. 514 Interaction with RANBP9. mRNA transport|negative regulation of translational initiation cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction mRNA binding|protein binding NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1) 35 Acute lymphoblastic leukemia(192;6.56e-05) AGTGATTGGTCATTAGCTCCA 0.493000 Fragile X syndrome 8 21 0 0 1 0 0 GABBR1 2550 broad.mit.edu 37 6 29591190 29591190 + Silent SNP T T G TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr6:29591190T>G uc003nmt.4 - 7 1191 c.855A>C c.(853-855)cgA>cgC p.R285R GABBR1_uc003nmp.4_Silent_p.R168R|GABBR1_uc003nms.4_Silent_p.R168R|GABBR1_uc003nmu.4_Silent_p.R223R|GABBR1_uc011dlr.2_Silent_p.R108R|GABBR1_uc011dls.1_Silent_p.R285R NM_001470 NP_001461 Q9UBS5 GABR1_HUMAN Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA. 285 gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane G-protein coupled receptor activity|GABA-B receptor activity endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 47 Baclofen(DB00181)|Progabide(DB00837) ATGGGTGCGTTCGGAAGAAAG 0.562000 6 20 0 0 1 0 0 RRAGD 58528 broad.mit.edu 37 6 90082246 90082246 + Missense_Mutation SNP G G T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr6:90082246G>T uc003pnd.4 - 5 1244 c.961C>A c.(961-963)Ctt>Att p.L321I RRAGD_uc010kcc.3_Missense_Mutation_p.L170I NM_021244 NP_067067 Q9NQL2 RRAGD_HUMAN Homo sapiens Ras-related GTP binding D (RRAGD), mRNA. 321 cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade lysosome|nucleus GTP binding|protein heterodimerization activity breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2) 15 all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139) BRCA - Breast invasive adenocarcinoma(108;0.0144) GTATTATTAAGCTTTATGATG 0.398000 OREG0017567 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) 13 30 0 0 1 0 0 DHCR24 1718 broad.mit.edu 37 1 55349397 55349397 + Missense_Mutation SNP C C T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr1:55349397C>T uc001cyc.1 - 1 410 c.281G>A c.(280-282)cGc>cAc p.R94H DHCR24_uc010ook.1_Missense_Mutation_p.R53H NM_014762 NP_055577 Q15392 DHC24_HUMAN Homo sapiens 24-dehydrocholesterol reductase (DHCR24), mRNA. 94 FAD-binding PCMH-type. anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development Golgi membrane|endoplasmic reticulum membrane|integral to membrane|nucleus delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1) 7 CCAGCCAGGGCGCCCCGTGCA 0.562000 22 75 0 0 1 0 0 ANAPC7 51434 broad.mit.edu 37 12 110812081 110812081 + Silent SNP C C T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr12:110812081C>T uc001tqo.2 - 10 1669 c.1668G>A c.(1666-1668)gaG>gaA p.E556E NM_016238 NP_057322 Q9UJX3 APC7_HUMAN Homo sapiens anaphase promoting complex subunit 7 (ANAPC7), transcript variant 1, mRNA. 556 anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination anaphase-promoting complex|cytosol|nucleoplasm protein phosphatase binding breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1) 19 CCGTGGGACTCTCCTCCTTCT 0.577000 3 28 0 0 1 0 0 ZNF565 147929 broad.mit.edu 37 19 36686017 36686017 + Silent SNP C C T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr19:36686017C>T uc002odn.3 - 2 159 c.51G>A c.(49-51)ctG>ctA p.L17L ZNF565_uc010ees.3_5'UTR|ZNF565_uc002odo.3_Silent_p.L17L|ZNF565_uc002odp.1_Silent_p.L17L NM_152477 NP_689690 Q8N9K5 ZN565_HUMAN Homo sapiens zinc finger protein 565 (ZNF565), transcript variant 2, mRNA. 17 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding large_intestine(4)|lung(4)|ovary(1)|skin(2) 11 Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.206) TCCATTCTTCCAGAGAGAACT 0.443000 3 49 0 0 1 0 0 EIF1AX 1964 broad.mit.edu 37 X 20148726 20148726 + Splice_Site SNP C C G TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chrX:20148726C>G uc004czt.3 - 6 546 c.338_splice c.e6-1 p.A113_splice NM_001412 NP_001403 P47813 IF1AX_HUMAN Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA. 113 cytosol translation initiation factor activity endometrium(2)|lung(1)|ovary(1)|prostate(1) 5 TTGATTTTAGCTAAGGACACA 0.313000 7 32 0 0 1 0 0 SLITRK6 84189 broad.mit.edu 37 13 86370229 86370229 + Missense_Mutation SNP C C T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr13:86370229C>T uc001vll.1 - 1 874 c.415G>A c.(415-417)Gaa>Aaa p.E139K SLITRK6_uc021rla.1_Missense_Mutation_p.E139K NM_032229 NP_115605 Q9H5Y7 SLIK6_HUMAN Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA. 139 integral to membrane breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 51 all_neural(89;0.117)|Medulloblastoma(90;0.163) GBM - Glioblastoma multiforme(99;0.0456) TGCAGGAATTCCAGGTTTTCC 0.363000 11 94 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 130184920 130184920 + Missense_Mutation SNP G G A rs138159153 by1000genomes TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr12:130184920G>A uc009zyl.1 - 1 731 c.403C>T c.(403-405)Cgg>Tgg p.R135W NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 135 integral to membrane p.R135R(2) NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2) 152 all_neural(191;0.101)|Medulloblastoma(191;0.163) all_epithelial(31;0.0934)|Breast(359;0.133) OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246) ACTTTGTCCCGCAGGATGTGG 0.537000 7 23 0 0 1 0 0 ZNF362 149076 broad.mit.edu 37 1 33745738 33745738 + Silent SNP C C T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr1:33745738C>T uc001bxc.1 + 4 533 c.363C>T c.(361-363)tcC>tcT p.S121S NM_152493 NP_689706 Q5T0B9 ZN362_HUMAN Homo sapiens zinc finger protein 362 (ZNF362), mRNA. 121 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding endometrium(3)|kidney(1)|large_intestine(4)|lung(2) 10 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211) TGGGGCTGTCCACCCGGACCC 0.687000 11 33 0 0 1 0 0 FBXL2 25827 broad.mit.edu 37 3 33420177 33420177 + Splice_Site SNP A A G TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr3:33420177A>G uc003cfp.3 + 13 966 c.895_splice c.e13-1 p.I299_splice FBXL2_uc011axm.1_Splice_Site|FBXL2_uc011axn.1_Splice_Site|FBXL2_uc011axp.2_Splice_Site_p.I215_splice|FBXL2_uc021wuy.1_Splice_Site_p.I231_splice|FBXL2_uc011axo.2_Splice_Site_p.I194_splice|FBXL2_uc011axr.1_Splice_Site|FBXL2_uc011axq.1_Splice_Site|FBXL2_uc011axs.1_Splice_Site NM_012157 NP_036289 Q9UKC9 FBXL2_HUMAN Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA. 299 interspecies interaction between organisms|proteolysis cytoplasm|membrane protein binding|ubiquitin-protein ligase activity endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1) 15 TTCTCTCCAGATAACCGACAG 0.428000 13 29 0 0 1 0 0 HOXA1 3198 broad.mit.edu 37 7 27134894 27134894 + Missense_Mutation SNP T T C TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr7:27134894T>C uc003sye.3 - 0 732 c.638A>G c.(637-639)aAc>aGc p.N213S HOXA1_uc003syd.3_3'UTR|HOXA1_uc022aao.1_Missense_Mutation_p.N213S|HOTAIRM1_uc003syg.3_5'Flank|HOTAIRM1_uc022aap.1_5'Flank NM_005522 NP_005513 P49639 HXA1_HUMAN Homo sapiens homeobox A1 (HOXA1), transcript variant 1, mRNA. 213 nucleus protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 TTTGGGAGGGTTTCTTTTGAC 0.488000 5 31 0 0 1 0 0 ZNF467 168544 broad.mit.edu 37 7 149462027 149462027 + Missense_Mutation SNP G G A TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr7:149462027G>A uc003wgd.2 - 4 1705 c.1564C>T c.(1564-1566)Cgc>Tgc p.R522C ZNF467_uc003wgc.3_Intron NM_207336 NP_997219 Q7Z7K2 ZN467_HUMAN Homo sapiens zinc finger protein 467 (ZNF467), mRNA. 522 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding central_nervous_system(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|urinary_tract(1) 13 Melanoma(164;0.165)|Ovarian(565;0.177) OV - Ovarian serous cystadenocarcinoma(82;0.00625) CTGAAGCTGCGGGCGCAGACG 0.701000 5 18 0 0 1 0 0 MRS2 57380 broad.mit.edu 37 6 24416723 24416723 + Missense_Mutation SNP G G C TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr6:24416723G>C uc011djl.2 + 7 949 c.827G>C c.(826-828)tGg>tCg p.W276S MRS2_uc003nea.3_Missense_Mutation_p.W273S|MRS2_uc003neb.3_Missense_Mutation_p.W273S|MRS2_uc011djm.2_Non-coding_Transcript|MRS2_uc011djn.2_Missense_Mutation_p.W223S NM_020662 NP_065713 Q9HD23 MRS2_HUMAN Homo sapiens MRS2 magnesium homeostasis factor homolog (S. cerevisiae) (MRS2), mRNA. 273 ion transport integral to membrane|mitochondrial inner membrane breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1) 12 GTATCAAAATGGAGTGACCCA 0.318000 17 61 0 0 1 0 0 VN1R2 317701 broad.mit.edu 37 19 53762045 53762045 + Silent SNP C C T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr19:53762045C>T uc002qbi.2 + 0 501 c.417C>T c.(415-417)atC>atT p.I139I NM_173856 NP_776255 Q8NFZ6 VN1R2_HUMAN Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA. 139 response to pheromone integral to membrane|plasma membrane pheromone receptor activity breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1) 31 GBM - Glioblastoma multiforme(134;0.00301) CCTTGGTTATCCTATCTAAAA 0.383000 11 36 0 0 1 0 0 OR8D1 283159 broad.mit.edu 37 11 124180036 124180036 + Silent SNP C C T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr11:124180036C>T uc010sag.2 - 0 627 c.627G>A c.(625-627)gtG>gtA p.V209V NM_001002917 NP_001002917 Q8WZ84 OR8D1_HUMAN Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA. 209 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 16 Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22) BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528) CTAGGGTGGGCACCAAGGTGT 0.498000 5 32 0 0 1 0 0 CRTC2 200186 broad.mit.edu 37 1 153924016 153924016 + Missense_Mutation SNP G G A TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr1:153924016G>A uc021pab.1 - 10 1283 c.1124C>T c.(1123-1125)tCc>tTc p.S375F CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Intron NM_181715 NP_859066 Q53ET0 CRTC2_HUMAN Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA. 375 Ser-rich. interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus protein binding p.S375F(2) NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2) 27 all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.151) GGCCAAGGAGGAGGCAGGCAG 0.642000 6 38 0 0 1 0 0 ELTD1 64123 broad.mit.edu 37 1 79383543 79383543 + Nonsense_Mutation SNP C C A TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr1:79383543C>A uc001diq.4 - 10 1810 c.1654G>T c.(1654-1656)Gga>Tga p.G552* NM_022159 NP_071442 Q9HBW9 ELTD1_HUMAN Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA. 552 neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|calcium ion binding NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 69 COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148) TATCTGTATCCTAGTGCTGCC 0.358000 4 82 0 0 1 0 0 CYTH1 9267 broad.mit.edu 37 17 76697789 76697789 + Missense_Mutation SNP T T A TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr17:76697789T>A uc021ueg.1 - 5 472 c.401A>T c.(400-402)cAt>cTt p.H134L CYTH1_uc002jvw.3_Missense_Mutation_p.H134L|CYTH1_uc010wtw.1_Missense_Mutation_p.H75L|CYTH1_uc010wtx.1_Missense_Mutation_p.H75L NM_004762 NP_004753 Q15438 CYH1_HUMAN Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA. 134 SEC7. regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport cytoplasm|plasma membrane ARF guanyl-nucleotide exchange factor activity|protein binding endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2) 19 AGTGAACTCATGCAGCTCCAC 0.463000 6 83 0 0 1 0 0 COL5A3 50509 broad.mit.edu 37 19 10079134 10079134 + Missense_Mutation SNP G G A TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr19:10079134G>A uc002mmq.1 - 58 4327 c.4241C>T c.(4240-4242)cCg>cTg p.P1414L NM_015719 NP_056534 P25940 CO5A3_HUMAN Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA. 1414 Triple-helical region. collagen fibril organization|skin development collagen type V collagen binding|extracellular matrix structural constituent NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 116 Epithelial(33;7.11e-05) AGCTTCTCCCGGGGGGCCAAT 0.592000 15 82 0 0 1 0 0 PROS1 5627 broad.mit.edu 37 3 93595969 93595969 + Missense_Mutation SNP G G T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr3:93595969G>T uc003drb.4 - 13 2052 c.1711C>A c.(1711-1713)Caa>Aaa p.Q571K PROS1_uc010hoo.3_Missense_Mutation_p.Q440K|PROS1_uc003dqz.4_Missense_Mutation_p.Q440K NM_000313 NP_000304 P07225 PROS_HUMAN Homo sapiens protein S (alpha) (PROS1), mRNA. 571 Laminin G-like 2. leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis Golgi lumen|Golgi membrane|endoplasmic reticulum membrane|extracellular region|platelet alpha granule lumen calcium ion binding|endopeptidase inhibitor activity endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1) 46 Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170) TGAGATTGTTGATCGGAACAT 0.373000 9 34 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr7:140453136A>T uc003vwc.4 - 14 1860 c.1799T>A c.(1798-1800)gTg>gAg p.V600E NM_004333 NP_004324 P15056 BRAF_HUMAN Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA. 600 Protein kinase. V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis). activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission cytosol|nucleus|plasma membrane ATP binding|metal ion binding p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1) SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2) NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3) 27380 Melanoma(164;0.00956) Sorafenib(DB00398) TCGAGATTTCACTGTAGCTAG 0.368000 V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN) 61 """Mis, T, O""" """AKAP9, KIAA1549""" """melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma""" Cardio-facio-cutaneous syndrome Cardiofaciocutaneous syndrome 5 35 0 0 1 0 0 GTPBP4 23560 broad.mit.edu 37 10 1046799 1046799 + Silent SNP C C T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr10:1046799C>T uc001ift.3 + 6 908 c.837C>T c.(835-837)ttC>ttT p.F279F GTPBP4_uc010qac.1_Silent_p.F70F|GTPBP4_uc010qad.2_Silent_p.F163F|GTPBP4_uc010qae.2_Silent_p.F232F NM_012341 NP_036473 Q9BZE4 NOG1_HUMAN Homo sapiens GTP binding protein 4 (GTPBP4), mRNA. 279 negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis nucleolus|perinuclear region of cytoplasm GTP binding|GTPase activity|protein binding p.L278L(1) endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1) 21 all_epithelial(10;0.107)|Colorectal(49;0.14) OV - Ovarian serous cystadenocarcinoma(33;0.0814) Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173) GACCTCTCTTCATCAACAAGG 0.463000 6 75 0 0 1 0 0 MCOLN1 57192 broad.mit.edu 37 19 7595248 7595248 + Missense_Mutation SNP C C T TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr19:7595248C>T uc002mgo.3 + 11 1577 c.1436C>T c.(1435-1437)gCc>gTc p.A479V MCOLN1_uc002mgp.3_Missense_Mutation_p.A444V NM_020533 NP_065394 Q9GZU1 MCLN1_HUMAN Homo sapiens mucolipin 1 (MCOLN1), mRNA. 479 calcium ion transport|cellular iron ion homeostasis|transferrin transport integral to plasma membrane|late endosome membrane|lysosomal membrane cation channel activity|iron ion transmembrane transporter activity breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 ACGTTCGCCGCCATGCAGGCG 0.602000 14 157 0 0 1 0 0 KRAS 3845 broad.mit.edu 37 12 25380277 25380278 + Missense_Mutation DNP GA GA TT rs121913238 TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr12:25380277_25380278GA>TT uc001rgp.1 - 2 361_362 c.180_181TC>AA c.(178-183)ggtcaa>ggAAaa p.Q61K KRAS_uc001rgq.1_Missense_Mutation_p.Q61K NM_033360 NP_203524 P01116 RASK_HUMAN Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA. 61 Q -> H (in lung carcinoma; dbSNP:rs17851045).|Q -> R (in a colorectal cancer sample; somatic mutation). Ras protein signal transduction|activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway plasma membrane GTP binding|GTPase activity|protein binding p.Q61H(208)|p.Q61L(71)|p.Q61K(64)|p.Q61R(56)|p.Q61E(20)|p.Q61P(12)|p.G60G(2)|p.G60D(2)|p.G60V(1)|p.Q61D(1)|p.G60A(1) UBE2L3/KRAS(2) NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57) 25349 all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12) OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05) TACTCCTCTTGACCTGCTGTGT 0.411000 Q61K(CALU6_LUNG) 119 Mis """pancreatic, colorectal, lung, thyroid, AML, others""" Noonan syndrome;Cardiofaciocutaneous syndrome TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6) 10 24 0 0 1 0 0 IFRD1 3475 broad.mit.edu 37 7 112112868 112112868 + Missense_Mutation SNP G G A TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr7:112112868G>A uc003vgh.3 + 11 1688 c.1218G>A c.(1216-1218)atG>atA p.M406I IFRD1_uc011kmn.2_Missense_Mutation_p.M356I|IFRD1_uc003vgj.3_Missense_Mutation_p.M406I|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Missense_Mutation_p.M356I|IFRD1_uc003vgk.3_Missense_Mutation_p.M123I NM_001007245 NP_001184009 O00458 IFRD1_HUMAN Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA. 406 LGPPVMLDAAT -> TWTPSDALMLQR (in Ref. 1; CAA71366). multicellular organismal development|myoblast cell fate determination binding breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1) 15 CCCCAGTGATGCTTGATGCTG 0.353000 7 41 0 0 1 0 0 KIAA0913 23053 broad.mit.edu 37 10 75554317 75554317 + Frame_Shift_Del DEL C C - TCGA-EM-A4FV-01A-11D-A257-08 TCGA-EM-A4FV-10A-01D-A25A-08 Untested Somatic Phase_I WXS none Illumina GAIIx 2c492960-8736-45cb-8849-2d803c968487 72a95a8a-0d7c-4a6f-ada7-c21877f37de5 g.chr10:75554317delC uc001jvj.3 + 13 3068 c.2813delC c.(2812-2814)tccfs p.S938fs KIAA0913_uc001jve.3_Frame_Shift_Del_p.S943fs|KIAA0913_uc009xrl.3_Frame_Shift_Del_p.S938fs|KIAA0913_uc001jvf.3_Frame_Shift_Del_p.S938fs|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Frame_Shift_Del_p.S366fs|KIAA0913_uc010qkr.2_Frame_Shift_Del_p.S361fs NM_001242488 NP_001229417 A7E2V4 K0913_HUMAN Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA. 938 zinc ion binding breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6) 19 Prostate(51;0.0112) CCCACAGGTTCCCGGCCCCCA 0.498 2 4 --- --- --- ---