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 NUP214 8021 broad.mit.edu 37 9 134004831 134004831 + Missense_Mutation SNP G G A TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr9:134004831G>A uc004cag.3 + 3 670 c.559G>A c.(559-561)Gca>Aca p.A187T NUP214_uc004cah.3_Missense_Mutation_p.A187T|NUP214_uc004caf.1_Missense_Mutation_p.A187T NM_005085 NP_005076 P35658 NU214_HUMAN Homo sapiens nucleoporin 214kDa (NUP214), mRNA. 187 carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction cytosol|nuclear pore|nucleoplasm protein binding NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2) 86 all_hematologic(7;0.0028) Myeloproliferative disorder(178;0.204) OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256) GAAAGTATGTGCAACTCTTCC 0.448000 T """DEK, SET, ABL1""" """AML, T-ALL""" 15 176 0 0 1 0 0 PALMD 54873 broad.mit.edu 37 1 100152261 100152261 + Missense_Mutation SNP A A G TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr1:100152261A>G uc001dsg.3 + 3 724 c.281A>G c.(280-282)aAa>aGa p.K94R NM_017734 NP_060204 Q9NP74 PALMD_HUMAN Homo sapiens palmdelphin (PALMD), mRNA. 94 regulation of cell shape cytoplasm|membrane central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2) 31 all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216) Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201) GATCTTGAAAAAGCTGAACTG 0.368000 8 30 0 0 1 0 0 SLC15A2 6565 broad.mit.edu 37 3 121616260 121616260 + Silent SNP T T C TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr3:121616260T>C uc003eep.2 + 2 372 c.219T>C c.(217-219)taT>taC p.Y73Y SLC15A2_uc011bjn.1_Silent_p.Y73Y NM_021082 NP_066568 Q16348 S15A2_HUMAN Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA. 73 Y -> C (in dbSNP:rs1143667). protein transport integral to plasma membrane peptide:hydrogen symporter activity|protein binding NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2) 36 GBM - Glioblastoma multiforme(114;0.0967) Cefadroxil(DB01140) ATTTCCTGTATTTCCTGCACT 0.433000 57 67 0 0 1 0 0 NBEAL2 23218 broad.mit.edu 37 3 47042545 47042545 + Missense_Mutation SNP A A G TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr3:47042545A>G uc003cqp.3 + 27 4539 c.4360A>G c.(4360-4362)Acg>Gcg p.T1454A NBEAL2_uc010hjm.2_Missense_Mutation_p.T831A|NBEAL2_uc010hjn.2_5'Flank NM_015175 NP_055990 Q6ZNJ1 NBEL2_HUMAN Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA. 1454 binding NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1) 51 Acute lymphoblastic leukemia(5;0.0534) BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656) GTTCTCGGTGACGTGGCGTGG 0.632000 3 49 0 0 1 0 0 LTBP2 4053 broad.mit.edu 37 14 74971835 74971835 + Missense_Mutation SNP G G A TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr14:74971835G>A uc001xqa.3 - 28 4607 c.4220C>T c.(4219-4221)gCc>gTc p.A1407V NM_000428 NP_000419 Q14767 LTBP2_HUMAN Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA. 1407 protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|growth factor binding breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 58 BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649) GCGGGTGGGGGCCGGGGCATG 0.622000 4 66 0 0 1 0 0 SERPINA12 145264 broad.mit.edu 37 14 94964650 94964650 + Missense_Mutation SNP T T A TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr14:94964650T>A uc001ydj.3 - 2 881 c.85A>T c.(85-87)Aat>Tat p.N29Y NM_173850 NP_776249 Q8IW75 SPA12_HUMAN Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA. 29 regulation of proteolysis extracellular region serine-type endopeptidase inhibitor activity breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1) 33 COAD - Colon adenocarcinoma(157;0.235) GCTTTATAATTCCTTGGTGAG 0.473000 4 87 0 0 1 0 0 ZNF148 7707 broad.mit.edu 37 3 124952243 124952243 + Missense_Mutation SNP C C G TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr3:124952243C>G uc003ehx.4 - 8 1813 c.1327G>C c.(1327-1329)Gac>Cac p.D443H SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.D443H|ZNF148_uc010hsa.3_Missense_Mutation_p.D443H|ZNF148_uc003eia.4_Missense_Mutation_p.D443H|ZNF148_uc003ehy.3_Intron NM_021964 NP_068799 Q9UQR1 ZN148_HUMAN Homo sapiens zinc finger protein 148 (ZNF148), mRNA. 443 cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter Golgi apparatus|nucleus protein binding|sequence-specific DNA binding|zinc ion binding breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3) 28 TGATCAATGTCAGCATTGCCT 0.393000 3 67 0 0 1 0 0 AKAP13 11214 broad.mit.edu 37 15 86270359 86270359 + Silent SNP G G A TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr15:86270359G>A uc002blu.1 + 27 7067 c.6897G>A c.(6895-6897)gaG>gaA p.E2299E AKAP13_uc002blv.1_Silent_p.E2295E|AKAP13_uc010bnf.1_Silent_p.E916E|AKAP13_uc002blw.1_Silent_p.E760E|AKAP13_uc002blx.1_Silent_p.E540E NM_006738 NP_006729 Q12802 AKP13_HUMAN Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 1, mRNA. 2295 Interaction with ESR1.|PH. apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction cytosol|membrane|membrane fraction|nucleus Rho guanyl-nucleotide exchange factor activity|cAMP-dependent protein kinase activity|metal ion binding|protein binding|signal transducer activity NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1) 98 CACATGAGGAGAAAGGTTTAT 0.433000 7 57 0 0 1 0 0 ZNF341 84905 broad.mit.edu 37 20 32336877 32336877 + Splice_Site SNP A A G TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr20:32336877A>G uc002wzy.3 + 4 509 c.489_splice c.e4+1 p.Q163_splice ZNF341_uc002wzx.3_Splice_Site_p.Q163_splice|ZNF341_uc010geq.3_Splice_Site_p.Q73_splice|ZNF341_uc010ger.3_Splice_Site NM_032819 NP_116208 Q9BYN7 ZN341_HUMAN Homo sapiens zinc finger protein 341 (ZNF341), mRNA. 163 Pro-rich. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3) 31 CCACCTGTGCAGGTAAGAAGG 0.557000 3 66 0 0 1 0 0 TMEM181 57583 broad.mit.edu 37 6 158957887 158957887 + Missense_Mutation SNP C C T TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr6:158957887C>T uc003qrm.4 + 0 420 c.409C>T c.(409-411)Cgc>Tgc p.R137C TMEM181_uc010kjr.1_Silent_p.T2T NM_020823 NP_065874 Q9P2C4 TM181_HUMAN Homo sapiens transmembrane protein 181 (TMEM181), mRNA. 137 pathogenesis integral to membrane toxin binding central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1) 22 Breast(66;0.000776)|Ovarian(120;0.0303) OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05) CAAGGATGACCGCTACTACAG 0.746000 5 39 0 0 1 0 0 C7 730 broad.mit.edu 37 5 40937653 40937653 + Splice_Site SNP G G T TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr5:40937653G>T uc003jmh.3 + 6 543 c.429_splice c.e6-1 p.G143_splice C7_uc011cpn.1_Splice_Site NM_000587 NP_000578 P10643 CO7_HUMAN Homo sapiens complement component 7 (C7), mRNA. 143 MACPF. complement activation, alternative pathway|complement activation, classical pathway|cytolysis extracellular region|membrane attack complex Ovarian(839;0.0112) CCTTTTAACAGTTACAATGAA 0.378000 8 14 0 0 1 0 0 KRTAP5-7 440050 broad.mit.edu 37 11 71238544 71238544 + Silent SNP C C T TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr11:71238544C>T uc001oqq.1 + 0 232 c.198C>T c.(196-198)ggC>ggT p.G66G NM_001012503 NP_001012521 Q6L8G8 KRA57_HUMAN Homo sapiens keratin associated protein 5-7 (KRTAP5-7), mRNA. 66 7 X 4 AA repeats of C-C-X-P. keratin filament p.G66G(2) breast(1)|endometrium(1)|kidney(3)|lung(6)|ovary(1) 12 CCAAGGGAGGCTGTGGCTCCT 0.652000 8 352 0 0 1 0 0 ZNF136 7695 broad.mit.edu 37 19 12297911 12297911 + Nonsense_Mutation SNP C C T TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr19:12297911C>T uc002mti.3 + 3 865 c.718C>T c.(718-720)Cga>Tga p.R240* ZNF136_uc010xmh.2_Nonsense_Mutation_p.R174* NM_003437 NP_003428 P52737 ZN136_HUMAN Homo sapiens zinc finger protein 136 (ZNF136), mRNA. 240 negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|protein binding|transcription corepressor activity|zinc ion binding NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2) 18 CACAAGTGTTCGAAGACACAT 0.393000 28 35 0 0 1 0 0 FRMD4A 55691 broad.mit.edu 37 10 13708265 13708265 + Missense_Mutation SNP C C T TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr10:13708265C>T uc001ims.3 - 17 1787 c.1435G>A c.(1435-1437)Gcc>Acc p.A479T FRMD4A_uc009xjf.1_Missense_Mutation_p.A479T|FRMD4A_uc001imt.1_Missense_Mutation_p.A512T NM_018027 NP_060497 Q9P2Q2 FRM4A_HUMAN Homo sapiens FERM domain containing 4A (FRMD4A), mRNA. 479 cytoplasm|cytoskeleton binding breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1) 41 AGGCGGCGGGCGGCCTCCGTA 0.527000 13 31 0 0 1 0 0 CHD3 1107 broad.mit.edu 37 17 7797853 7797853 + Missense_Mutation SNP G G A rs144356754 TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr17:7797853G>A uc002gjd.2 + 7 1375 c.1373G>A c.(1372-1374)cGt>cAt p.R458H CHD3_uc002gje.2_Missense_Mutation_p.R399H|CHD3_uc002gjf.2_Missense_Mutation_p.R399H|CHD3_uc002gjg.1_Missense_Mutation_p.R227H NM_001005271 NP_001005271 Q12873 CHD3_HUMAN Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA. 399 chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent NuRD complex|microtubule organizing center ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2) 65 Prostate(122;0.202) ACCTGCCCTCGTGCCTACCAC 0.577000 7 184 0 0 1 0 0 ADARB2 105 broad.mit.edu 37 10 1229245 1229245 + Missense_Mutation SNP G G A TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr10:1229245G>A uc009xhq.3 - 9 2434 c.2108C>T c.(2107-2109)gCg>gTg p.A703V ADARB2_uc001igj.2_Missense_Mutation_p.A87V|ADARB2_uc001igl.4_Missense_Mutation_p.A65V|ADARB2_uc001igm.4_Missense_Mutation_p.A212V NM_018702 NP_061172 Q9NS39 RED2_HUMAN Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA. 703 A to I editase. mRNA processing mitochondrion|nucleus adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1) 41 all_epithelial(10;0.059)|Colorectal(49;0.0815) all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165) GTAGGTGTGCGCCCCCAGCTT 0.592000 5 35 0 0 1 0 0 MAPK4 5596 broad.mit.edu 37 18 48190438 48190438 + Missense_Mutation SNP C C T TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr18:48190438C>T uc002lev.3 + 1 1110 c.110C>T c.(109-111)gCc>gTc p.A37V MAPK4_uc010xdm.2_Intron|MAPK4_uc010doz.3_Missense_Mutation_p.A37V NM_002747 NP_002738 P31152 MK04_HUMAN Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA. 37 Protein kinase. cell cycle ATP binding|MAP kinase activity lung(4)|skin(3)|upper_aerodigestive_tract(1) 8 Colorectal(6;0.0297) Colorectal(21;0.156) GTGCTGTCGGCCGTGGACAGC 0.597000 8 118 0 0 1 0 0 COL4A3 1285 broad.mit.edu 37 2 228118353 228118353 + Splice_Site SNP C C T TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr2:228118353C>T uc002vom.2 + 13 927 c.765_splice c.e13+1 p.T255_splice BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron NM_000091 NP_000082 Q01955 CO4A3_HUMAN Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA. 255 Triple-helical region. activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound collagen type IV extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1) 55 all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247) Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187) GATAACAGAACGGTAACTCTG 0.468000 4 142 0 0 1 0 0 ADAMTS15 170689 broad.mit.edu 37 11 130339245 130339245 + Missense_Mutation SNP C C G TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr11:130339245C>G uc010scd.2 + 4 1631 c.1631C>G c.(1630-1632)aCc>aGc p.T544S NM_139055 NP_620686 Q8TE58 ATS15_HUMAN Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA. 544 TSP type-1 1. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1) 36 all_hematologic(175;0.0429) Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837) OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215) AGGCAGTGCACCAACCCCACC 0.642000 7 52 0 0 1 0 0 BRAF 673 broad.mit.edu 37 7 140453136 140453136 + Missense_Mutation SNP A A T rs121913377 TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 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 25 45 0 0 1 0 0 VN1R5 317705 broad.mit.edu 37 1 247420154 247420154 + Missense_Mutation SNP G G C TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr1:247420154G>C uc010pyu.2 + 1 778 c.778G>C c.(778-780)Gtc>Ctc p.V260L NM_173858 NP_776257 Q7Z5H4 VN1R5_HUMAN Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA. 261 response to pheromone integral to membrane|plasma membrane pheromone receptor activity all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661) all_cancers(173;0.0314) OV - Ovarian serous cystadenocarcinoma(106;0.00854) CTGTCCCCGAGTCTCACCAGT 0.468000 4 60 0 0 1 0 0 DNAH8 1769 broad.mit.edu 37 6 38697694 38697695 + Frame_Shift_Ins INS - - T TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr6:38697694_38697695insT uc021yzh.1 + 3 651_652 c.542_543insT c.(541-543)aatfs p.N181fs DNAH8_uc003ooe.2_Intron NM_001206927 NP_001193856 Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA. NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4) 260 GCATTTACTAATTTTTTTGCGA 0.337 2 4 --- --- --- --- TLCD2 727910 broad.mit.edu 37 17 1613182 1613183 + Splice_Site INS - - G TCGA-EM-A3FM-01A-11D-A21A-08 TCGA-EM-A3FM-10A-01D-A21A-08 Untested Somatic Phase_I WXS none Illumina GAIIx e4d74fbc-7d92-4064-857a-c7b106d04a79 1e044dad-bb75-489f-86ab-14bf179751c7 g.chr17:1613182_1613183insG uc021tnh.1 - 2 303 c.177_splice c.e2-1 p.G59_splice NM_001164407 NP_001157879 A6NGC4 TLCD2_HUMAN Homo sapiens TLC domain containing 2 (TLCD2), mRNA. 59 TLC. integral to membrane prostate(1) 1 AGTGACAGGCTGGGGGCATGGG 0.693 2 4 --- --- --- ---