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 CCDC19 25790 broad.mit.edu 37 1 159842908 159842908 + Missense_Mutation SNP G G A TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr1:159842908G>A uc001fui.3 - 10 1421 c.1403C>T c.(1402-1404)gCc>gTc p.A468V CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.A383V|CCDC19_uc001fuj.3_Non-coding_Transcript NM_012337 NP_036469 Q9UL16 CCD19_HUMAN Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA. 468 mitochondrion|soluble fraction endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2) 26 all_hematologic(112;0.0597) BRCA - Breast invasive adenocarcinoma(70;0.151) GCGCCCTGTGGCCTTTTTCTC 0.602000 25 49 0 0 1 0 0 GPR56 9289 broad.mit.edu 37 16 57695714 57695714 + Silent SNP C C T TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr16:57695714C>T uc002emb.2 + 13 2080 c.1788C>T c.(1786-1788)atC>atT p.I596I GPR56_uc002ema.1_Silent_p.I421I|GPR56_uc002emc.2_Silent_p.I590I|GPR56_uc002emf.2_Silent_p.I590I|GPR56_uc010vhs.1_Silent_p.I596I|GPR56_uc002emd.2_Silent_p.I590I|GPR56_uc002eme.2_Silent_p.I590I|GPR56_uc010vht.1_Silent_p.I595I|GPR56_uc002emg.3_Silent_p.I590I|GPR56_uc010vhu.1_Silent_p.I415I NM_005682 NP_005673 Q9Y653 GPR56_HUMAN Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA. 596 brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway integral to plasma membrane G-protein coupled receptor activity kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1) 15 TGGTGCAGATCCTGCGGCTGC 0.602000 4 118 0 0 1 0 0 EVI5L 115704 broad.mit.edu 37 19 7914210 7914210 + Silent SNP C C A TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr19:7914210C>A uc010xjz.2 + 3 668 c.621C>A c.(619-621)ctC>ctA p.L207L EVI5L_uc002min.3_Silent_p.L207L|EVI5L_uc002mio.1_5'Flank NM_001159944 NP_001153416 Q96CN4 EVI5L_HUMAN Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA. 207 Rab-GAP TBC. intracellular Rab GTPase activator activity|protein binding breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1) 12 GCCTGCTCCTCATGCAGGTAG 0.647000 4 88 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53304746 53304746 + Missense_Mutation SNP C C G TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr19:53304746C>G uc002qad.3 - 3 509 c.352G>C c.(352-354)Gag>Cag p.E118Q ZNF28_uc002qac.3_Missense_Mutation_p.E64Q|ZNF28_uc010eqe.3_Missense_Mutation_p.E64Q|ZNF28_uc021uza.1_Missense_Mutation_p.E65Q NM_006969 NP_008900 P17035 ZNF28_HUMAN Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA. 118 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.E65*(1) breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) CCAGTCAACTCTTTGATTTCT 0.403000 15 459 0 0 1 0 0 GHR 2690 broad.mit.edu 37 5 42718766 42718766 + Missense_Mutation SNP G G A TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr5:42718766G>A uc021xxv.1 + 9 1315 c.1178G>A c.(1177-1179)cGt>cAt p.R393H GHR_uc003jmt.3_Missense_Mutation_p.R386H|GHR_uc003jmu.3_Missense_Mutation_p.R386H|GHR_uc003jmv.2_Missense_Mutation_p.R386H|GHR_uc021xxw.1_Missense_Mutation_p.R386H|GHR_uc021xxx.1_Missense_Mutation_p.R386H|GHR_uc021xxy.1_Missense_Mutation_p.R386H|GHR_uc021xxz.1_Missense_Mutation_p.R386H|GHR_uc021xya.1_Missense_Mutation_p.R386H|GHR_uc021xyb.1_3'UTR|GHR_uc021xyc.1_3'UTR|GHR_uc011cpq.2_Missense_Mutation_p.R199H|GHR_uc021xyd.1_Missense_Mutation_p.R364H NM_001242399 NP_001229328 P10912 GHR_HUMAN Homo sapiens growth hormone receptor (GHR), transcript variant 2, mRNA. 386 2-oxoglutarate metabolic process|JAK-STAT cascade|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1) 39 Myeloproliferative disorder(839;0.00878) Pegvisomant(DB00082)|Somatropin recombinant(DB00052) GACTCTGGACGTACCAGCTGT 0.473000 6 169 0 0 1 0 0 PARP12 64761 broad.mit.edu 37 7 139757774 139757774 + Silent SNP A A G TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr7:139757774A>G uc003vvl.1 - 1 1261 c.387T>C c.(385-387)acT>acC p.T129T PARP12_uc010lnf.1_Non-coding_Transcript NM_022750 NP_073587 Q9H0J9 PAR12_HUMAN Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA. 129 nucleus NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1) 19 Melanoma(164;0.0142) CAACGCCATGAGTTCTCAGCA 0.483000 3 170 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9011326 9011326 + Silent SNP G G C TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr19:9011326G>C uc002mkp.3 - 35 39111 c.38907C>G c.(38905-38907)gtC>gtG p.V12969V MUC16_uc021uog.1_Intron NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 12971 SEA 6. 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 GTTCACCATTGACATAGAGAC 0.537000 9 283 0 0 1 0 0 UNG 7374 broad.mit.edu 37 12 109536206 109536206 + Silent SNP C C G TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr12:109536206C>G uc001toa.2 + 0 284 c.75C>G c.(73-75)ctC>ctG p.L25L UNG_uc001tnz.2_Intron NM_003362 NP_003353 P13051 UNG_HUMAN Homo sapiens uracil-DNA glycosylase (UNG), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 0 base-excision repair|interspecies interaction between organisms mitochondrion|nucleus protein binding|uracil DNA N-glycosylase activity central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1) 9 CGCTGCAGCTCTTGAGCCGCC 0.697000 Base excision repair (BER), DNA glycosylases Immune Deficiency with Hyper-IgM 5 67 0 0 1 0 0 PIGO 84720 broad.mit.edu 37 9 35092632 35092632 + Missense_Mutation SNP C C T TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr9:35092632C>T uc003zwd.3 - 6 1648 c.1252G>A c.(1252-1254)Gag>Aag p.E418K PIGO_uc003zwe.3_Missense_Mutation_p.E418K|PIGO_uc003zwf.3_Missense_Mutation_p.E418K|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_5'UTR NM_032634 NP_116023 Q8TEQ8 PIGO_HUMAN Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA. 418 C-terminal protein lipidation|preassembly of GPI anchor in ER membrane endoplasmic reticulum membrane|integral to membrane transferase activity endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3) 38 LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778) AGTGTCGCCTCAGCCCCCTTG 0.587000 17 67 0 0 1 0 0 MOCS3 27304 broad.mit.edu 37 20 49575532 49575532 + Silent SNP G G A TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr20:49575532G>A uc002xvy.1 + 0 170 c.153G>A c.(151-153)ccG>ccA p.P51P DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank NM_014484 NP_055299 O95396 MOCS3_HUMAN Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA. 51 Mo-molybdopterin cofactor biosynthetic process|enzyme active site formation via L-cysteine persulfide|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process cytosol ATP binding|URM1 activating enzyme activity|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4) 24 CGCTGCCGCCGAAGGCCGCTC 0.652000 4 89 0 0 1 0 0 CBLN3 643866 broad.mit.edu 37 14 24897090 24897090 + Missense_Mutation SNP G G A TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr14:24897090G>A uc001wpg.4 - 2 994 c.523C>T c.(523-525)Cct>Tct p.P175S KHNYN_uc010tpc.2_5'Flank|KHNYN_uc001wph.4_5'Flank|KHNYN_uc010alw.3_5'Flank NM_001039771 NP_001034860 Q6UW01 CBLN3_HUMAN Homo sapiens cerebellin 3 precursor (CBLN3), mRNA. 175 C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity). cell junction|extracellular region|synapse central_nervous_system(1)|lung(3) 4 GBM - Glioblastoma multiforme(265;0.00159) CGGTCCCCAGGGTCCAAGGGC 0.587000 7 196 0 0 1 0 0 LUC7L3 51747 broad.mit.edu 37 17 48823271 48823271 + Nonsense_Mutation SNP C C A TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr17:48823271C>A uc002isq.3 + 7 1052 c.884C>A c.(883-885)tCa>tAa p.S295* LUC7L3_uc010wmw.2_Nonsense_Mutation_p.S219*|LUC7L3_uc002isr.3_Nonsense_Mutation_p.S295*|LUC7L3_uc002iss.3_Nonsense_Mutation_p.S295* NM_016424 NP_057508 O95232 LC7L3_HUMAN Homo sapiens LUC7-like 3 (S. cerevisiae) (LUC7L3), transcript variant 1, mRNA. 295 Arg/Ser-rich. RNA splicing|apoptosis|mRNA processing|response to stress focal adhesion|nuclear speck DNA binding|mRNA binding|protein binding endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1) 12 AGAAGTCGTTCACGAAGTAGA 0.458000 6 17 0 0 1 0 0 DENND5B 160518 broad.mit.edu 37 12 31605154 31605154 + Missense_Mutation SNP C C T TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr12:31605154C>T uc001rkh.1 - 6 1605 c.1454G>A c.(1453-1455)gGc>gAc p.G485D DENND5B_uc001rki.1_Missense_Mutation_p.G450D|DENND5B_uc001rkj.3_Missense_Mutation_p.G472D|DENND5B_uc001rkk.1_Missense_Mutation_p.G372D NM_144973 NP_659410 Q6ZUT9 DEN5B_HUMAN Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA. 450 integral to membrane NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 38 GGTTTCATTGCCCTTCAGTAA 0.448000 7 315 0 0 1 0 0 OR13F1 138805 broad.mit.edu 37 9 107266544 107266544 + Splice_Site SNP A A G TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr9:107266544A>G uc011lvm.2 + 1 1 c.1_splice c.e1-1 p.M1_splice NM_001004485 NP_001004485 Q8NGS4 O13F1_HUMAN Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA. 1 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1) 31 ACATAAAAAAATGTTCCCGGC 0.368000 10 90 0 0 1 0 0 ZNF146 7705 broad.mit.edu 37 19 36727354 36727354 + Silent SNP C C T TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr19:36727354C>T uc002odq.4 + 3 1535 c.12C>T c.(10-12)ctC>ctT p.L4L ZNF146_uc010eet.3_Silent_p.L4L|ZNF146_uc010eeu.3_Silent_p.L4L|ZNF146_uc021ute.1_Silent_p.L4L NM_007145 NP_009076 Q15072 OZF_HUMAN Homo sapiens zinc finger protein 146 (ZNF146), transcript variant 1, mRNA. 4 regulation of transcription, DNA-dependent cytoplasm|nucleolus DNA binding|heparin binding|zinc ion binding kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 11 Esophageal squamous(110;0.162) TGTCACACCTCAGCCAGCAGA 0.418000 4 69 0 0 1 0 0 PTGES2 80142 broad.mit.edu 37 9 130885238 130885238 + Missense_Mutation SNP G G C TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr9:130885238G>C uc004bti.3 - 4 1340 c.862C>G c.(862-864)Ctc>Gtc p.L288V PTGES2_uc004btk.3_Missense_Mutation_p.L97V|PTGES2_uc004btl.3_Missense_Mutation_p.L97V NM_025072 NP_079348 Q9H7Z7 PGES2_HUMAN Homo sapiens prostaglandin E synthase 2 (PTGES2), transcript variant 1, mRNA. 288 GST C-terminal. cell redox homeostasis|prostaglandin biosynthetic process Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity endometrium(1)|large_intestine(1)|lung(2) 4 TTGCTGATGAGGTACATGGCC 0.627000 4 86 0 0 1 0 0 GPRASP1 9737 broad.mit.edu 37 X 101910801 101910801 + Missense_Mutation SNP A A T TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chrX:101910801A>T uc010nod.3 + 2 2602 c.1960A>T c.(1960-1962)Atg>Ttg p.M654L ARMCX5-GPRASP2_uc022cay.1_Intron|GPRASP1_uc022cbc.1_Missense_Mutation_p.M654L|GPRASP1_uc004ejj.4_Missense_Mutation_p.M654L|GPRASP1_uc004eji.4_Missense_Mutation_p.M654L|GPRASP1_uc022cbd.1_Missense_Mutation_p.M654L NM_001099411 NP_055525 Q5JY77 GASP1_HUMAN Homo sapiens G protein-coupled receptor associated sorting protein 1 (GPRASP1), transcript variant 3, mRNA. 654 Glu-rich. cytoplasm protein binding NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 60 AGAGGTCAGTATGAAGCATGG 0.478000 11 238 0 0 1 0 0 LRRC4C 57689 broad.mit.edu 37 11 40137758 40137758 + Missense_Mutation SNP C C T TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr11:40137758C>T uc001mxa.1 - 1 2049 c.85G>A c.(85-87)Gtg>Atg p.V29M LRRC4C_uc001mxc.1_Missense_Mutation_p.V25M|LRRC4C_uc001mxd.1_Missense_Mutation_p.V25M|LRRC4C_uc001mxb.1_Missense_Mutation_p.V25M|LRRC4C_uc021qgf.1_Missense_Mutation_p.V29M NM_020929 NP_065980 Q9HCJ2 LRC4C_HUMAN Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA. 29 regulation of axonogenesis integral to membrane protein binding NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1) 86 all_lung(304;0.0575)|Lung NSC(402;0.138) GCCAGCAGCACCACAAGCAGG 0.498000 12 37 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53303160 53303160 + Missense_Mutation SNP C C G TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr19:53303160C>G uc002qad.3 - 3 2095 c.1938G>C c.(1936-1938)caG>caC p.Q646H ZNF28_uc002qac.3_Missense_Mutation_p.Q592H|ZNF28_uc010eqe.3_Missense_Mutation_p.Q592H|ZNF28_uc021uza.1_Missense_Mutation_p.Q593H NM_006969 NP_008900 P17035 ZNF28_HUMAN Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA. 646 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) GGGATGACATCTGACTGAAGG 0.433000 15 354 0 0 1 0 0 SETD2 29072 broad.mit.edu 37 3 47162712 47162712 + Missense_Mutation SNP C C G TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr3:47162712C>G uc003cqv.3 - 2 3467 c.3381G>C c.(3379-3381)gaG>gaC p.E1127D SETD2_uc003cqs.3_Missense_Mutation_p.E1138D NM_014159 NP_054878 Q9BYW2 SETD2_HUMAN Homo sapiens SET domain containing 2 (SETD2), mRNA. 1138 regulation of transcription, DNA-dependent|transcription, DNA-dependent chromosome|nucleus DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding p.H1126Y(2) breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5) 141 Acute lymphoblastic leukemia(5;0.0169) BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844) CCGGATTCTTCTCTGTTCCTT 0.373000 """N, F, S, Mis""" clear cell renal carcinoma 12 220 0 0 1 0 0 ZNF28 7576 broad.mit.edu 37 19 53304776 53304776 + Missense_Mutation SNP C C G TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr19:53304776C>G uc002qad.3 - 3 479 c.322G>C c.(322-324)Gac>Cac p.D108H ZNF28_uc002qac.3_Missense_Mutation_p.D54H|ZNF28_uc010eqe.3_Missense_Mutation_p.D54H|ZNF28_uc021uza.1_Missense_Mutation_p.D55H NM_006969 NP_008900 P17035 ZNF28_HUMAN Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA. 108 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 34 GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145) GCTGCATGGTCATTTGTTTCA 0.408000 12 442 0 0 1 0 0 CTSL3 392360 broad.mit.edu 37 9 90401768 90401768 + Missense_Mutation SNP G G A TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr9:90401768G>A uc004apm.1 + 4 626 c.620G>A c.(619-621)aGg>aAg p.R207K Homo sapiens cathepsin L family member 3 (CTSL3), non-coding RNA. endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1) 15 CATGACATGAGGAATCATCTG 0.498000 11 98 0 0 1 0 0 DSP 1832 broad.mit.edu 37 6 7585761 7585761 + Missense_Mutation SNP A A G TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr6:7585761A>G uc003mxp.1 + 23 8545 c.8266A>G c.(8266-8268)Ata>Gta p.I2756V DSP_uc003mxq.1_Missense_Mutation_p.I2157V|DSP_uc021yle.1_Missense_Mutation_p.I2313V NM_004415 NP_004406 P15924 DESP_HUMAN Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA. 2756 Globular 2. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5) 101 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GAAGGGGTTCATAGATGGCCG 0.537000 5 152 0 0 1 0 0 SPARCL1 8404 broad.mit.edu 37 4 88415391 88415391 + Missense_Mutation SNP A A T TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr4:88415391A>T uc010ikm.3 - 4 1133 c.561T>A c.(559-561)gaT>gaA p.D187E SPARCL1_uc011cdc.2_Missense_Mutation_p.D62E|SPARCL1_uc003hqs.4_Missense_Mutation_p.D187E|SPARCL1_uc011cdd.2_Missense_Mutation_p.D62E NM_001128310 NP_004675 Q14515 SPRL1_HUMAN Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA. 187 signal transduction extracellular space|proteinaceous extracellular matrix calcium ion binding p.R186M(1) breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2) 21 OV - Ovarian serous cystadenocarcinoma(123;0.00118) GGTTTCCTTGATCCCTTAGGC 0.398000 8 577 0 0 1 0 0 PTPRO 5800 broad.mit.edu 37 12 15636959 15636959 + Missense_Mutation SNP T T C TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr12:15636959T>C uc001rcv.2 + 1 597 c.127T>C c.(127-129)Tca>Cca p.S43P PTPRO_uc001rcw.2_Missense_Mutation_p.S43P|PTPRO_uc001rcu.2_Missense_Mutation_p.S43P NM_030667 NP_109592 Q16827 PTPRO_HUMAN Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA. 43 integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity p.S43S(1) NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1) 74 Hepatocellular(102;0.244) CATCGTTGTCTCATTAGAAGC 0.348000 41 104 0 0 1 0 0 ARSH 347527 broad.mit.edu 37 X 2947386 2947386 + Missense_Mutation SNP C C G TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chrX:2947386C>G uc011mhj.2 + 7 1298 c.1298C>G c.(1297-1299)aCg>aGg p.T433R NM_001011719 NP_001011719 Q5FYA8 ARSH_HUMAN Homo sapiens arylsulfatase family, member H (ARSH), mRNA. 433 integral to membrane arylsulfatase activity|metal ion binding breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1) 34 all_cancers(21;9e-05)|all_epithelial(21;6.22e-06)|all_lung(23;0.000597)|Lung NSC(23;0.00901)|Lung SC(21;0.186) TATCTGCACACGGTCAGGTGG 0.572000 3 222 0 0 1 0 0 UNC13D 201294 broad.mit.edu 37 17 73831849 73831849 + Missense_Mutation SNP G G A TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr17:73831849G>A uc002jpp.3 - 18 1986 c.1606C>T c.(1606-1608)Cgg>Tgg p.R536W UNC13D_uc010wsk.1_Missense_Mutation_p.R536W|UNC13D_uc002jpq.1_Missense_Mutation_p.R186W NM_199242 NP_954712 Q70J99 UN13D_HUMAN Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA. 536 Interaction with RAB27A. positive regulation of exocytosis|regulation of mast cell degranulation exocytic vesicle|late endosome|lysosome|membrane|recycling endosome protein binding central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 29 all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154) TCCTGCACCCGCTTGGCCACC 0.622000 Familial Hemophagocytic Lymphohistiocytosis 4 164 0 0 1 0 0 CYP2E1 1571 broad.mit.edu 37 10 135345689 135345689 + Missense_Mutation SNP C C G TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr10:135345689C>G uc001lnj.1 + 3 582 c.549C>G c.(547-549)atC>atG p.I183M CYP2E1_uc001lnk.1_Missense_Mutation_p.I46M|CYP2E1_uc009ybl.1_5'UTR|CYP2E1_uc009ybm.1_Intron|CYP2E1_uc001lnl.1_5'UTR NM_000773 NP_000764 P05181 CP2E1_HUMAN Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA. 183 drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process endoplasmic reticulum membrane|microsome electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 30 all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203) OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06) Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124) TAGCCGACATCCTCTTCCGCA 0.522000 Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of 11 160 0 0 1 0 0 DKK4 27121 broad.mit.edu 37 8 42231877 42231877 + Splice_Site SNP C C A TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr8:42231877C>A uc003xpb.3 - 4 527 c.416_splice c.e4-1 p.G139_splice NM_014420 NP_055235 Q9UBT3 DKK4_HUMAN Homo sapiens dickkopf homolog 4 (Xenopus laevis) (DKK4), mRNA. 139 Wnt receptor signaling pathway|multicellular organismal development|negative regulation of Wnt receptor signaling pathway extracellular region NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1) 14 all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211) all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954) BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024) TCCCTCTTGTCCTGTAACAAG 0.463000 4 120 0 0 1 0 0 EXOSC10 5394 broad.mit.edu 37 1 11129618 11129618 + Missense_Mutation SNP G G A TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr1:11129618G>A uc001asa.3 - 21 2536 c.2486C>T c.(2485-2487)gCt>gTt p.A829V EXOSC10_uc001asb.3_Missense_Mutation_p.A804V NM_001001998 NP_001001998 Q01780 EXOSX_HUMAN Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA. 829 CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin 3'-5' exonuclease activity|RNA binding|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1) 27 Ovarian(185;0.249) Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202) TTCCTCACCAGCAAAAGCCTT 0.502000 6 624 0 0 1 0 0 CNOT6 57472 broad.mit.edu 37 5 179996203 179996203 + Missense_Mutation SNP T T C TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr5:179996203T>C uc003mlx.3 + 9 1470 c.1121T>C c.(1120-1122)gTa>gCa p.V374A CNOT6_uc010jld.3_Missense_Mutation_p.V374A|CNOT6_uc010jle.3_Missense_Mutation_p.V369A NM_015455 NP_056270 Q9ULM6 CNOT6_HUMAN Homo sapiens CCR4-NOT transcription complex, subunit 6 (CNOT6), mRNA. 374 nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent cytosol|nucleus RNA binding|exonuclease activity|metal ion binding|protein binding central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1) 23 all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114) all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163) Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178) OV - Ovarian serous cystadenocarcinoma(192;0.023) GTGAAGTTGGTACAAACTATG 0.413000 3 157 0 0 1 0 0 BRCA2 675 broad.mit.edu 37 13 32953493 32953493 + Missense_Mutation SNP C C T TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr13:32953493C>T uc001uub.1 + 21 9021 c.8794C>T c.(8794-8796)Cac>Tac p.H2932Y NM_000059 NP_000050 P51587 BRCA2_HUMAN Homo sapiens breast cancer 2, early onset (BRCA2), mRNA. 2932 cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|gamma-tubulin binding|protease binding|single-stranded DNA binding NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3) 183 Lung SC(185;0.0262) all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704) CTTGAATAATCACAGGCAAAT 0.363000 """D, Mis, N, F, S""" """breast, ovarian, pancreatic""" """breast, ovarian, pancreatic, leukemia (FANCB, FANCD1)""" Homologous recombination Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia TCGA Ovarian(8;0.087) 9 73 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 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 33 71 0 0 1 0 0 TUSC5 286753 broad.mit.edu 37 17 1198817 1198817 + Silent SNP C C T TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr17:1198817C>T uc002fsi.1 + 1 759 c.420C>T c.(418-420)gaC>gaT p.D140D NM_172367 NP_758955 Q8IXB3 TUSC5_HUMAN Homo sapiens tumor suppressor candidate 5 (TUSC5), mRNA. 140 response to biotic stimulus integral to membrane endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|prostate(4)|skin(2) 15 UCEC - Uterine corpus endometrioid carcinoma (25;0.0822) GCAACGTGGACGGCGCCCGGA 0.622000 13 226 0 0 1 0 0 TTC8 123016 broad.mit.edu 37 14 89319349 89319349 + Missense_Mutation SNP C C G TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr14:89319349C>G uc010ath.3 + 7 841 c.707C>G c.(706-708)tCt>tGt p.S236C TTC8_uc010atg.1_Non-coding_Transcript|TTC8_uc001xxi.3_Missense_Mutation_p.S220C|TTC8_uc001xxj.3_Missense_Mutation_p.S210C|TTC8_uc001xxk.3_Missense_Mutation_p.S180C|TTC8_uc001xxl.3_5'UTR|TTC8_uc010ati.3_Missense_Mutation_p.S22C|TTC8_uc010atj.3_Intron NM_198309 NP_938051 Q8TAM2 TTC8_HUMAN Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA. 246 cilium assembly|establishment of anatomical structure orientation|sensory processing BBSome|centrosome|cilium membrane|microtubule basal body protein binding endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1) 15 ACAGAACATTCTCAGTACAAG 0.363000 31 65 0 0 1 0 0 CGN 57530 broad.mit.edu 37 1 151491515 151491515 + Missense_Mutation SNP C C T TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr1:151491515C>T uc009wmw.3 + 1 664 c.520C>T c.(520-522)Ccc>Tcc p.P174S NM_020770 NP_065821 Q9P2M7 CING_HUMAN Homo sapiens cingulin (CGN), mRNA. 168 Head.|Interacts with ZO-2. myosin complex|tight junction actin binding|motor activity NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3) 45 Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185) LUSC - Lung squamous cell carcinoma(543;0.181) TGACACTGCTCCCCTGTCTTC 0.592000 6 171 0 0 1 0 0 NOD1 10392 broad.mit.edu 37 7 30491380 30491380 + Silent SNP C C A TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr7:30491380C>A uc003tav.3 - 5 2176 c.1653G>T c.(1651-1653)gcG>gcT p.A551A NM_006092 NP_006083 Q9Y239 NOD1_HUMAN Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA. 551 JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of dendritic cell antigen processing and presentation|protein oligomerization|stress-activated MAPK cascade|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway basolateral plasma membrane|cytosol ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2) 39 TCGCTGCCCCCGCAGGGGGCA 0.622000 4 177 0 0 1 0 0 ERO1L 30001 broad.mit.edu 37 14 53150513 53150513 + Missense_Mutation SNP T T C TCGA-BJ-A0ZH-01A-11D-A10S-08 TCGA-BJ-A0ZH-10A-01D-A10S-08 Untested Somatic Phase_I WXS none Illumina GAIIx 7480c602-9209-4768-997b-15b3d2ca1b14 8c99553b-4cbb-4d31-ae3d-dd596a654801 g.chr14:53150513T>C uc001wzv.3 - 1 447 c.227A>G c.(226-228)tAt>tGt p.Y76C NM_014584 NP_055399 Q96HE7 ERO1A_HUMAN Homo sapiens ERO1-like (S. cerevisiae) (ERO1L), mRNA. 76 chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor ERO1L/FERMT2(2) breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1) 12 Breast(41;0.226) taCCTTGTAATACCTAAAGTA 0.259000 3 33 0 0 1 0 0