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 validation_method t_ref_count validation_status validation_tumor_sample t_alt_count validation_alt_allele pox qox pox_cutoff isArtifactMode oxoGCut ENTPD3 956 broad.mit.edu 37 3 40468888 40468888 + Missense_Mutation SNP C A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr3:40468888C>A uc003ckd.4 + 10 1571 c.1479C>A c.(1477-1479)ttC>ttA p.F493L ENTPD3_uc010hhy.3_Missense_Mutation_p.F493L|ENTPD3-AS1_uc003cke.4_Intron NM_001248 NP_001239 O75355 ENTP3_HUMAN Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA. 493 integral to membrane ATP binding|hydrolase activity endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 18 KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758) CCCTCGCTTTCTTCACAGCGG 0.547000 29 17 9.16793e-09 9.90728e-09 1 1 0 CNRIP1 25927 broad.mit.edu 37 2 68544407 68544407 + Missense_Mutation SNP A C C TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr2:68544407A>C uc002sek.4 - 1 863 c.212T>G c.(211-213)cTg>cGg p.L71R CNRIP1_uc002sej.4_Missense_Mutation_p.L71R|CNRIP1_uc010fdd.1_Missense_Mutation_p.L71R NM_015463 NP_056278 Q96F85 CNRP1_HUMAN Homo sapiens cannabinoid receptor interacting protein 1 (CNRIP1), transcript variant CRIP1a, mRNA. 71 protein binding kidney(1)|large_intestine(5)|liver(1)|lung(1)|skin(1) 9 CTTCAGTTCCAGTGGGACAAG 0.483000 40 9 0 0 1 0 0 HCRTR2 3062 broad.mit.edu 37 6 55147214 55147214 + Missense_Mutation SNP C A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr6:55147214C>A uc003pcl.3 + 6 1612 c.1297C>A c.(1297-1299)Cca>Aca p.P433T HCRTR2_uc010jzv.3_Non-coding_Transcript NM_001526 NP_001517 O43614 OX2R_HUMAN Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA. 433 feeding behavior integral to plasma membrane neuropeptide receptor activity breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1) 46 Lung NSC(77;0.107)|Renal(3;0.122) LUSC - Lung squamous cell carcinoma(124;0.23) AAGCACACTCCCAGCAGCCAA 0.408000 23 3 2.56e-06 2.72254e-06 1 1 0 PPAP2B 8613 broad.mit.edu 37 1 57002733 57002733 + Missense_Mutation SNP C T T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr1:57002733C>T uc001cyj.2 - 1 759 c.191G>A c.(190-192)cGa>cAa p.R64Q NM_003713 NP_003704 O14495 LPP3_HUMAN Homo sapiens phosphatidic acid phosphatase type 2B (PPAP2B), mRNA. 64 canonical Wnt receptor signaling pathway involved in positive regulation of cell-cell adhesion|canonical Wnt receptor signaling pathway involved in positive regulation of endothelial cell migration|canonical Wnt receptor signaling pathway involved in positive regulation of wound healing|germ cell migration|homotypic cell-cell adhesion|negative regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|sphingolipid metabolic process Golgi apparatus|adherens junction|integral to membrane phosphatidate phosphatase activity|phosphoprotein phosphatase activity|protein binding|sphingosine-1-phosphate phosphatase activity cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2) 17 GTAAAACCCTCGGTGGTAAGG 0.488000 28 15 0 0 1 0 0 OR4C13 283092 broad.mit.edu 37 11 49974838 49974838 + Silent SNP G A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr11:49974838G>A uc010rhz.2 + 0 896 c.864G>A c.(862-864)agG>agA p.R288R NM_001001955 NP_001001955 Q8NGP0 OR4CD_HUMAN Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA. 288 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1) 43 ACACCTTGAGGAATGCTCAAA 0.383000 54 24 0 0 1 0 0 KIAA1210 57481 broad.mit.edu 37 X 118284445 118284445 + Missense_Mutation SNP C T T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chrX:118284445C>T uc004era.4 - 0 98 c.98G>A c.(97-99)cGa>cAa p.R33Q NM_020721 NP_065772 Q9ULL0 K1210_HUMAN Homo sapiens KIAA1210 (KIAA1210), mRNA. 33 breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1) 64 CCTGGCCCCTCGGTCCCTGGG 0.602000 10 26 0 0 1 0 0 MDFIC 29969 broad.mit.edu 37 7 114619817 114619817 + Missense_Mutation SNP G C C TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr7:114619817G>C uc003vhf.3 + 3 1064 c.474G>C c.(472-474)aaG>aaC p.K158N NM_001166345 NP_001159817 Q9P1T7 MDFIC_HUMAN Homo sapiens MyoD family inhibitor domain containing (MDFIC), transcript variant 1, mRNA. 158 activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent cytoplasm|nucleolus|nucleus Tat protein binding|cyclin binding breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1) 8 TTTCCCAAAAGACAGGCTCTT 0.328000 56 13 0 0 1 0 0 COL4A1 1282 broad.mit.edu 37 13 110827615 110827615 + Missense_Mutation SNP C A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr13:110827615C>A uc001vqw.4 - 36 3270 c.3148G>T c.(3148-3150)Ggg>Tgg p.G1050W NM_001845 NP_001836 P02462 CO4A1_HUMAN Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA. 1050 Triple-helical region. angiogenesis|axon guidance extracellular matrix structural constituent|platelet-derived growth factor binding breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1) 105 all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604) Breast(118;0.2) BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145) CCTGCCTGCCCTTTCTCTCCT 0.572000 30 5 8.12818e-05 8.50919e-05 1 1 0 KIAA1211 57482 broad.mit.edu 37 4 57181813 57181813 + Silent SNP C T T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr4:57181813C>T uc003hbk.2 + 7 2536 c.2145C>T c.(2143-2145)gtC>gtT p.V715V KIAA1211_uc010iha.2_Silent_p.V708V|KIAA1211_uc011bzz.1_Silent_p.V625V|KIAA1211_uc003hbm.1_Silent_p.V601V NM_020722 NP_065773 Q6ZU35 K1211_HUMAN Homo sapiens KIAA1211 (KIAA1211), mRNA. 715 endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1) 65 Glioma(25;0.08)|all_neural(26;0.101) CTCCGCCAGTCAATGCAAAGT 0.572000 86 11 0 0 1 0 0 UTY 7404 broad.mit.edu 37 Y 15469761 15469761 + Nonsense_Mutation SNP A T T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chrY:15469761A>T uc022ckf.1 - 14 2570 c.1565T>A c.(1564-1566)tTa>tAa p.L522* UTY_uc004fsw.1_Nonsense_Mutation_p.L88*|UTY_uc022cjk.1_Nonsense_Mutation_p.L173*|UTY_uc022cjp.1_Nonsense_Mutation_p.L173*|UTY_uc022ckv.1_Nonsense_Mutation_p.L425*|UTY_uc022cjq.1_Intron|UTY_uc022ckw.1_Nonsense_Mutation_p.L454*|UTY_uc022cjr.1_Nonsense_Mutation_p.L409*|UTY_uc022ckx.1_Nonsense_Mutation_p.L425*|UTY_uc022cjs.1_Nonsense_Mutation_p.L409*|UTY_uc022cky.1_Nonsense_Mutation_p.L253*|UTY_uc022cjt.1_Nonsense_Mutation_p.L173*|UTY_uc022ckz.1_Nonsense_Mutation_p.L258*|UTY_uc022cju.1_Non-coding_Transcript|UTY_uc022cla.1_5'UTR|UTY_uc022cjv.1_Nonsense_Mutation_p.L342*|UTY_uc022clb.1_Nonsense_Mutation_p.L94*|UTY_uc022cjw.1_Nonsense_Mutation_p.L467*|UTY_uc022cjx.1_Nonsense_Mutation_p.L522*|UTY_uc022cjy.1_Intron|UTY_uc022cjz.1_Nonsense_Mutation_p.L470*|UTY_uc022cka.1_Intron|UTY_uc022ckb.1_Intron|UTY_uc022ckc.1_Intron|UTY_uc022ckd.1_5'UTR|UTY_uc022cke.1_Non-coding_Transcript|UTY_uc022ckg.1_Nonsense_Mutation_p.L470*|UTY_uc022ckh.1_Nonsense_Mutation_p.L173*|UTY_uc022cki.1_Nonsense_Mutation_p.L455*|UTY_uc022ckj.1_Nonsense_Mutation_p.L477*|UTY_uc022ckk.1_Nonsense_Mutation_p.L425*|UTY_uc022ckl.1_5'UTR|UTY_uc022ckm.1_Nonsense_Mutation_p.L500*|UTY_uc022ckn.1_Nonsense_Mutation_p.L425*|UTY_uc022cko.1_Nonsense_Mutation_p.L470*|UTY_uc022ckp.1_Nonsense_Mutation_p.L470*|UTY_uc004fsx.1_Nonsense_Mutation_p.L425*|UTY_uc022ckq.1_Nonsense_Mutation_p.L470*|UTY_uc022cjl.1_5'UTR|UTY_uc022ckr.1_Nonsense_Mutation_p.L71*|UTY_uc022cjm.1_Nonsense_Mutation_p.L470*|UTY_uc022cks.1_Nonsense_Mutation_p.L425*|UTY_uc022cjn.1_Nonsense_Mutation_p.L94*|UTY_uc022ckt.1_Nonsense_Mutation_p.L425*|UTY_uc022cjo.1_Nonsense_Mutation_p.L213*|UTY_uc022cku.1_Nonsense_Mutation_p.L173*|UTY_uc022clc.1_Nonsense_Mutation_p.L455*|UTY_uc022cld.1_Nonsense_Mutation_p.L425*|UTY_uc022cle.1_Nonsense_Mutation_p.L242*|UTY_uc022clf.1_Nonsense_Mutation_p.L425*|UTY_uc022clg.1_Nonsense_Mutation_p.L173*|UTY_uc022clh.1_Nonsense_Mutation_p.L392*|UTY_uc022cli.1_Nonsense_Mutation_p.L425*|UTY_uc022clj.1_Nonsense_Mutation_p.L173*|UTY_uc022clk.1_5'UTR|UTY_uc022cll.1_Nonsense_Mutation_p.L350*|UTY_uc022clm.1_Nonsense_Mutation_p.L77*|UTY_uc022cln.1_Nonsense_Mutation_p.L213*|UTY_uc022clo.1_Nonsense_Mutation_p.L425*|UTY_uc022clp.1_Nonsense_Mutation_p.L253*|UTY_uc022clq.1_Nonsense_Mutation_p.L395*|UTY_uc004fsy.3_Nonsense_Mutation_p.L425*|UTY_uc022clr.1_Nonsense_Mutation_p.L173*|UTY_uc022cls.1_Nonsense_Mutation_p.L454*|UTY_uc022clt.1_Nonsense_Mutation_p.L173*|UTY_uc022clu.1_Nonsense_Mutation_p.L409*|UTY_uc022clv.1_Nonsense_Mutation_p.L218*|UTY_uc022clw.1_Nonsense_Mutation_p.L500*|UTY_uc022clx.1_Nonsense_Mutation_p.L522*|UTY_uc022cly.1_Nonsense_Mutation_p.L470*|UTY_uc022clz.1_Nonsense_Mutation_p.L173*|UTY_uc022cma.1_Nonsense_Mutation_p.L213*|UTY_uc022cmb.1_Nonsense_Mutation_p.L71*|UTY_uc022cng.1_Nonsense_Mutation_p.L395*|UTY_uc022cnh.1_Intron|UTY_uc004fsz.3_Nonsense_Mutation_p.L425*|UTY_uc022cmc.1_Non-coding_Transcript|UTY_uc022cmd.1_5'UTR|UTY_uc022cme.1_Non-coding_Transcript|UTY_uc022cmf.1_Nonsense_Mutation_p.L173*|UTY_uc022cmg.1_Nonsense_Mutation_p.L409*|UTY_uc022cmh.1_Nonsense_Mutation_p.L409*|UTY_uc022cmi.1_Nonsense_Mutation_p.L218*|UTY_uc022cmj.1_Nonsense_Mutation_p.L522*|UTY_uc022cmk.1_5'UTR|UTY_uc022cml.1_Nonsense_Mutation_p.L470*|UTY_uc022cmm.1_Nonsense_Mutation_p.L522*|UTY_uc022cmn.1_Nonsense_Mutation_p.L470*|UTY_uc022cmo.1_Nonsense_Mutation_p.L140*|UTY_uc022cmp.1_Non-coding_Transcript|UTY_uc022cmq.1_Non-coding_Transcript|UTY_uc022cmr.1_Nonsense_Mutation_p.L455*|UTY_uc022cms.1_Nonsense_Mutation_p.L392*|UTY_uc022cmt.1_Nonsense_Mutation_p.L425*|UTY_uc022cmu.1_Nonsense_Mutation_p.L392*|UTY_uc022cmv.1_Nonsense_Mutation_p.L392*|UTY_uc022cmw.1_Nonsense_Mutation_p.L197*|UTY_uc022cmx.1_Nonsense_Mutation_p.L197*|UTY_uc022cmy.1_Nonsense_Mutation_p.L213*|UTY_uc022cmz.1_Nonsense_Mutation_p.L180*|UTY_uc022cna.1_Nonsense_Mutation_p.L220*|UTY_uc022cnb.1_Nonsense_Mutation_p.L180*|UTY_uc022cnc.1_Nonsense_Mutation_p.L94*|UTY_uc022cnd.1_Nonsense_Mutation_p.L492*|UTY_uc022cne.1_Non-coding_Transcript|UTY_uc022cnf.1_Nonsense_Mutation_p.L395*|UTY_uc022cni.1_Nonsense_Mutation_p.L157*|UTY_uc022cnj.1_Nonsense_Mutation_p.L173*|UTY_uc022cnk.1_Nonsense_Mutation_p.L409*|UTY_uc022cnl.1_Nonsense_Mutation_p.L422*|UTY_uc022cnm.1_Nonsense_Mutation_p.L477*|UTY_uc022cnn.1_Nonsense_Mutation_p.L425*|UTY_uc022cno.1_Nonsense_Mutation_p.L392*|UTY_uc022cnp.1_Nonsense_Mutation_p.L425*|UTY_uc022cnq.1_Nonsense_Mutation_p.L425*|UTY_uc022cnr.1_Nonsense_Mutation_p.L180*|UTY_uc022cns.1_Intron|UTY_uc022cnt.1_Nonsense_Mutation_p.L197*|UTY_uc022cnu.1_Nonsense_Mutation_p.L500*|UTY_uc022cnv.1_Nonsense_Mutation_p.L455*|UTY_uc022cnw.1_Nonsense_Mutation_p.L425*|UTY_uc022cnx.1_Nonsense_Mutation_p.L213*|UTY_uc022cny.1_Intron|UTY_uc022cnz.1_Intron|UTY_uc022coa.1_Nonsense_Mutation_p.L364*|UTY_uc022cob.1_Nonsense_Mutation_p.L225*|UTY_uc022coc.1_Nonsense_Mutation_p.L310*|UTY_uc022cod.1_Nonsense_Mutation_p.L265* NM_007125 NP_009056 O14607 UTY_HUMAN Homo sapiens ubiquitously transcribed tetratricopeptide repeat gene, Y-linked (UTY), transcript variant 3, mRNA. 425 chromatin modification nucleus metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen kidney(1)|lung(6) 7 TCATACCTGTAATTTCTGTGG 0.343000 2 8 0 0 1 0 0 SULT4A1 25830 broad.mit.edu 37 22 44221895 44221895 + Missense_Mutation SNP C T T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:44221895C>T uc003bee.1 - 6 957 c.841G>A c.(841-843)Gac>Aac p.D281N SULT4A1_uc021wqv.1_Non-coding_Transcript|SULT4A1_uc003bed.1_Missense_Mutation_p.D202N|SULT4A1_uc003bef.1_Non-coding_Transcript|SULT4A1_uc011aqb.1_Missense_Mutation_p.D168N NM_014351 NP_055166 Q9BR01 ST4A1_HUMAN Homo sapiens sulfotransferase family 4A, member 1 (SULT4A1), mRNA. 281 3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process cytosol sulfotransferase activity kidney(1)|large_intestine(3)|lung(4)|ovary(1) 9 Ovarian(80;0.024)|all_neural(38;0.0416) Colorectal(1;0.00242)|READ - Rectum adenocarcinoma(1;0.0419) AAATAAAAGTCAAACGTGAGG 0.413000 271 139 0 0 1 0 0 X97876 0 broad.mit.edu 37 9 66499680 66499680 + Missense_Mutation SNP C A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr9:66499680C>A uc004aee.1 + 0 490 c.490C>A c.(490-492)Ccc>Acc p.P164T X97876_uc004aed.1_Non-coding_Transcript Homo sapiens hypothetical LOC442421, mRNA (cDNA clone IMAGE:40031134). TCATGTTAACCCCTTCCCAGG 0.582000 26 5 0.014758 0.0149816 1 1 0 GANC 2595 broad.mit.edu 37 15 42632949 42632949 + Silent SNP C T T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr15:42632949C>T uc001zpi.3 + 17 2463 c.2149C>T c.(2149-2151)Ctg>Ttg p.L717L NM_198141 NP_937784 Q8TET4 GANC_HUMAN Homo sapiens glucosidase, alpha; neutral C (GANC), mRNA. 717 carbohydrate metabolic process carbohydrate binding|maltose alpha-glucosidase activity breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 23 all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153) GBM - Glioblastoma multiforme(94;1.06e-06) TGAATACATGCTGGGTGAGCA 0.403000 26 18 0 0 1 0 0 SYN2 6854 broad.mit.edu 37 3 12224814 12224814 + Missense_Mutation SNP C G G TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr3:12224814C>G uc003bwm.3 + 13 1463 c.1299C>G c.(1297-1299)agC>agG p.S433R SYN2_uc003bwl.1_Missense_Mutation_p.S433R|SYN2_uc003bwn.3_Missense_Mutation_p.S111R NM_133625 NP_598328 Q86VA8 Q86VA8_HUMAN Homo sapiens synapsin II (SYN2), transcript variant IIa, mRNA. 437 neurotransmitter secretion synaptic vesicle ATP binding|ligase activity breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1) 18 TCTTCCAGAGCGGAACACTTA 0.488000 9 4 0 0 1 0 0 EWSR1 2130 broad.mit.edu 37 22 29688155 29688155 + Silent SNP C T T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:29688155C>T uc003aet.3 + 9 1370 c.1042C>T c.(1042-1044)Cta>Tta p.L348L EWSR1_uc003aev.3_Silent_p.L353L|EWSR1_uc003aex.3_Silent_p.L347L|EWSR1_uc003aew.3_Silent_p.L292L|EWSR1_uc003aey.3_Silent_p.L143L|EWSR1_uc003aez.3_Silent_p.L9L NM_005243 NP_005234 Q01844 EWS_HUMAN Homo sapiens Ewing sarcoma breakpoint region 1 (EWSR1), transcript variant 2, mRNA. 348 Breakpoint for insertion to form EWSR1- FEV fusion protein. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus|plasma membrane RNA binding|calmodulin binding|nucleotide binding|zinc ion binding EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9) breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 26 AGATCTTGATCTAGGTAATTT 0.388000 T """FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1, PBX1""" """Ewing sarcoma, desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma""" 34 25 0 0 1 0 0 OMG 4974 broad.mit.edu 37 17 29622049 29622049 + Missense_Mutation SNP A G G TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr17:29622049A>G uc002hgj.3 - 1 1514 c.1301T>C c.(1300-1302)gTt>gCt p.V434A NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|OMG_uc021tuj.1_Missense_Mutation_p.V434A NM_002544 NP_002535 P23515 OMGP_HUMAN Homo sapiens oligodendrocyte myelin glycoprotein (OMG), mRNA. 434 cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway anchored to membrane|plasma membrane p.0?(8)|p.?(3) breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1) 13 all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094) UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121) CATGACCACAACATTGAGCAA 0.408000 41 7 0 0 1 0 0 PITRM1 10531 broad.mit.edu 37 10 3189774 3189774 + Missense_Mutation SNP C G G TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr10:3189774C>G uc009xhv.2 - 18 2297 c.2228G>C c.(2227-2229)gGg>gCg p.G743A PITRM1_uc001igr.2_Missense_Mutation_p.G742A|PITRM1_uc001igt.2_Missense_Mutation_p.G742A|PITRM1_uc010qah.2_Missense_Mutation_p.G644A|PITRM1_uc001igu.1_Missense_Mutation_p.G668A|PITRM1_uc010qai.2_Missense_Mutation_p.G713A|LOC100507034_uc001igv.2_Non-coding_Transcript NM_001242307 NP_001229236 E7ES23 E7ES23_HUMAN Homo sapiens pitrilysin metallopeptidase 1 (PITRM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA. 644 proteolysis metalloendopeptidase activity|zinc ion binding breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3) 33 CTGATCCATCCCGCTGAAGGT 0.527000 87 10 0 0 1 0 0 APOL5 80831 broad.mit.edu 37 22 36116626 36116626 + Missense_Mutation SNP G C C TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:36116626G>C uc003aof.3 + 1 67 c.67G>C c.(67-69)Ggt>Cgt p.G23R NM_030642 NP_085145 Q9BWW9 APOL5_HUMAN Homo sapiens apolipoprotein L, 5 (APOL5), mRNA. 23 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding p.G23V(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 CTTGGGAGAAGGTTGTAAAGA 0.502000 19 8 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38328584 38328584 + Missense_Mutation SNP G A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:38328584G>A uc003aui.3 + 10 2316 c.2041G>A c.(2041-2043)Gag>Aag p.E681K NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN Homo sapiens MICAL-like 1 (MICALL1), mRNA. 681 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) GTACATCCCTGAGGAGGACAT 0.632000 93 29 0 0 1 0 0 SLC7A14 57709 broad.mit.edu 37 3 170216549 170216549 + Silent SNP C T T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr3:170216549C>T uc003fgz.2 - 3 982 c.666G>A c.(664-666)ctG>ctA p.L222L CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron NM_020949 NP_066000 Q8TBB6 S7A14_HUMAN Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA. 222 integral to membrane amino acid transmembrane transporter activity central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4) 53 all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137) Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12) CCCATACTGCCAGGTTCAGCA 0.517000 42 3 0 0 1 0 0 RFX6 222546 broad.mit.edu 37 6 117246759 117246759 + Nonsense_Mutation SNP G T T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr6:117246759G>T uc003pxm.3 + 15 1885 c.1822G>T c.(1822-1824)Gga>Tga p.G608* NM_173560 NP_775831 Q8HWS3 RFX6_HUMAN Homo sapiens regulatory factor X, 6 (RFX6), mRNA. 608 glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation nucleus protein binding|transcription regulatory region DNA binding cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1) 59 CAGTCAACCTGGAGGCCTAGG 0.547000 26 7 0.0293803 0.0293803 1 1 0 TNN 63923 broad.mit.edu 37 1 175092773 175092773 + Missense_Mutation SNP A C C TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr1:175092773A>C uc001gkl.1 + 11 3001 c.2888A>C c.(2887-2889)aAg>aCg p.K963T NM_022093 NP_071376 Q9UQP3 TENN_HUMAN Homo sapiens tenascin N (TNN), mRNA. 963 Fibronectin type-III 8. cell growth|cell migration|signal transduction extracellular space|proteinaceous extracellular matrix NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3) 156 Breast(1374;0.000962) KIRC - Kidney renal clear cell carcinoma(1967;0.00198) CAGGAGAGCAAGAAGGCTGAC 0.622000 25 14 0 0 1 0 0 PMS2P1 5379 broad.mit.edu 37 7 99930068 99930068 + RNA SNP T C C TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr7:99930068T>C uc003uuh.2 - 1 c.607A>G PMS2P1_uc003uui.2_Non-coding_Transcript|PMS2P1_uc010lgv.1_Non-coding_Transcript|PMS2P1_uc003uuj.1_Non-coding_Transcript|PMS2P1_uc022aik.1_Intron Homo sapiens postmeiotic segregation increased 2 pseudogene 1 (PMS2P1), non-coding RNA. endometrium(1)|lung(3) 4 AACTTACCAATATTAGTGGCA 0.413000 111 6 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38328608 38328608 + Missense_Mutation SNP G A A rs142424154 TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:38328608G>A uc003aui.3 + 10 2340 c.2065G>A c.(2065-2067)Gat>Aat p.D689N NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN Homo sapiens MICAL-like 1 (MICALL1), mRNA. 689 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) TGGAGAGATGGATACCATTGA 0.657000 81 21 0 0 1 0 0 ANK1 286 broad.mit.edu 37 8 41566384 41566384 + Missense_Mutation SNP G A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr8:41566384G>A uc003xok.3 - 16 1994 c.1910C>T c.(1909-1911)aCg>aTg p.T637M NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_5'Flank|ANK1_uc003xoi.3_Missense_Mutation_p.T637M|ANK1_uc003xoj.3_Missense_Mutation_p.T637M|ANK1_uc003xol.3_Missense_Mutation_p.T637M|ANK1_uc003xom.3_Missense_Mutation_p.T670M NM_020476 NP_065209 P16157 ANK1_HUMAN Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA. 637 89 kDa domain. axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3) 122 Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211) all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188) OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264) GTGAAGGGGCGTCACACCTTG 0.622000 59 30 0 0 1 0 0 PRPF6 24148 broad.mit.edu 37 20 62663321 62663321 + Missense_Mutation SNP G A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr20:62663321G>A uc002yho.3 + 19 2765 c.2597G>A c.(2596-2598)cGc>cAc p.R866H PRPF6_uc002yhp.3_Missense_Mutation_p.R826H|LINC00176_uc002yhq.3_5'Flank|LINC00176_uc011abq.2_5'Flank NM_012469 NP_036601 O94906 PRP6_HUMAN Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA. 866 assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP|catalytic step 2 spliceosome|nucleoplasm androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 35 all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09) TGGTTCCACCGCACTGTGAAG 0.592000 109 4 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38328586 38328586 + Silent SNP G A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:38328586G>A uc003aui.3 + 10 2318 c.2043G>A c.(2041-2043)gaG>gaA p.E681E NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN Homo sapiens MICAL-like 1 (MICALL1), mRNA. 681 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) ACATCCCTGAGGAGGACATCC 0.637000 94 29 0 0 1 0 0 OR4K17 390436 broad.mit.edu 37 14 20585751 20585751 + Silent SNP C T T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr14:20585751C>T uc001vwo.1 + 0 186 c.186C>T c.(184-186)ttC>ttT p.F62F NM_001004715 NP_001004715 Q8NGC6 OR4KH_HUMAN Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA. 34 sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3) 21 all_cancers(95;0.00108) Epithelial(56;7.58e-07)|all cancers(55;3.77e-06) GBM - Glioblastoma multiforme(265;0.0144) TTGCCCTCTTCTCGGTTATCT 0.413000 117 8 0 0 1 0 0 TAB1 10454 broad.mit.edu 37 22 39770401 39770401 + Silent SNP C T T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:39770401C>T uc003axq.4 + 1 242 c.180C>T c.(178-180)atC>atT p.I60I TAB1_uc003axo.4_Silent_p.I60I|TAB1_uc003axr.3_5'UTR|TAB1_uc003axs.4_Silent_p.I61I NM_004711 NP_004702 Q15750 TAB1_HUMAN Homo sapiens synaptogyrin 1 (SYNGR1), transcript variant 1a, mRNA. 0 I-kappaB kinase/NF-kappaB cascade|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|activation of MAPK activity|activation of MAPKKK activity|innate immune response|positive regulation of NF-kappaB transcription factor activity|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 cytosol|endosome membrane catalytic activity|protein binding breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1) 14 AGTTCTGCATCTACAACCGCA 0.642000 129 85 0 0 1 0 0 PLA2G7 7941 broad.mit.edu 37 6 46679259 46679259 + Nonsense_Mutation SNP C A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr6:46679259C>A uc010jzf.3 - 6 906 c.637G>T c.(637-639)Gag>Tag p.E213* PLA2G7_uc021zae.1_Nonsense_Mutation_p.E213*|PLA2G7_uc011dwd.1_Nonsense_Mutation_p.E168*|PLA2G7_uc011dwe.1_Nonsense_Mutation_p.E86* NM_005084 NP_005075 Q13093 PAFA_HUMAN Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA. 213 inflammatory response|lipid catabolic process extracellular space 1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1) 14 Lung(136;0.192) TGTGTCTCCTCCTCTTGTTTC 0.408000 53 24 3.5997e-14 4.01966e-14 1 1 0 CCR4 1233 broad.mit.edu 37 3 32994926 32994926 + Silent SNP G A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr3:32994926G>A uc003cfg.1 + 1 180 c.12G>A c.(10-12)acG>acA p.T4T CCR4_uc021wuw.1_Silent_p.T4T NM_005508 NP_005499 P51679 CCR4_HUMAN Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA. 4 chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response integral to plasma membrane NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1) 16 TGAACCCCACGGATATAGCAG 0.468000 20 6 0 0 1 0 0 POTED 317754 broad.mit.edu 37 GL000213.1 138774 138774 + Missense_Mutation SNP C G G TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chrGL000213.1:138774C>G uc011mfl.1 - 0 562 c.514G>C c.(514-516)Gaa>Caa p.E172Q NM_174981 NP_778146 Q86YR6 POTED_HUMAN Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA. 172 E -> Q. plasma membrane central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1) 33 TACCTCTTTTCCTTGTCCCTC 0.582000 34 4 0 0 1 0 0 FCAR 2204 broad.mit.edu 37 19 55396865 55396865 + Missense_Mutation SNP C T T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr19:55396865C>T uc002qhr.1 + 2 486 c.289C>T c.(289-291)Cgc>Tgc p.R97C FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_Missense_Mutation_p.R97C|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_Missense_Mutation_p.R70C|FCAR_uc010esi.1_Missense_Mutation_p.R70C|FCAR_uc002qhu.1_Missense_Mutation_p.R97C|FCAR_uc002qhv.1_Missense_Mutation_p.R97C|FCAR_uc002qhw.1_Missense_Mutation_p.R85C|FCAR_uc002qhx.1_Missense_Mutation_p.R85C|FCAR_uc002qhy.1_Missense_Mutation_p.R85C|FCAR_uc002qhz.1_Missense_Mutation_p.R85C|FCAR_uc002qia.1_Intron NM_002000 NP_001991 P24071 FCAR_HUMAN Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA. 97 Ig-like C2-type 1. immune response extracellular region|integral to plasma membrane IgA binding|receptor activity p.R97G(3) breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2) 24 GBM - Glioblastoma multiforme(193;0.0443) CAAGGCAGGGCGCTATCAGTG 0.502000 15 6 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38329058 38329058 + Silent SNP G A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:38329058G>A uc003aui.3 + 12 2522 c.2247G>A c.(2245-2247)caG>caA p.Q749Q NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN Homo sapiens MICAL-like 1 (MICALL1), mRNA. 749 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) TCAAGCAGCAGAACCTGGAGC 0.602000 90 54 0 0 1 0 0 ZFP14 57677 broad.mit.edu 37 19 36832163 36832163 + Nonsense_Mutation SNP G A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr19:36832163G>A uc010xtd.2 - 3 647 c.568C>T c.(568-570)Caa>Taa p.Q190* ZFP14_uc010eex.2_Nonsense_Mutation_p.Q189* NM_020917 NP_065968 Q9HCL3 ZFP14_HUMAN Homo sapiens zinc finger protein 14 homolog (mouse) (ZFP14), mRNA. 189 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1) 26 Esophageal squamous(110;0.162) CTCAGGTGTTGACTAAGTGTT 0.408000 92 12 0 0 1 0 0 C1orf222 339457 broad.mit.edu 37 1 1853779 1853779 + Missense_Mutation SNP C G G TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr1:1853779C>G uc001aik.3 - 10 1715 c.865G>C c.(865-867)Gtg>Ctg p.V289L C1orf222_uc001ail.3_Missense_Mutation_p.V289L Q69YW0 CA222_HUMAN RecName: Full=Uncharacterized protein C1orf222; 289 breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(1) 11 all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634) all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217) Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199) GTCTCCTTCACATCCCCCCTT 0.617000 37 17 0 0 1 0 0 SYNE1 23345 broad.mit.edu 37 6 152623200 152623200 + Splice_Site SNP T C C TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr6:152623200T>C uc021zhb.1 - 90 17570 c.17347_splice c.e90-1 p.E5783_splice SYNE1_uc003qos.4_Splice_Site_p.E307_splice|SYNE1_uc003qot.4_Splice_Site_p.E5712_splice|SYNE1_uc003qou.4_Splice_Site_p.E5783_splice|SYNE1_uc010kiy.1_Missense_Mutation_p.Q4R NM_182961 NP_892006 Q8NF91 SYNE1_HUMAN Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA. 5783 Golgi organization|cell death|cytoskeletal anchoring at nuclear membrane|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane Golgi apparatus|SUN-KASH complex|cytoskeleton|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere actin binding|lamin binding NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19) 524 Ovarian(120;0.0955) BRCA - Breast invasive adenocarcinoma(37;0.243) OV - Ovarian serous cystadenocarcinoma(155;2.24e-10) CGCCAGCTCCTGAGGAAACAT 0.532000 HNSCC(10;0.0054) 32 23 0 0 1 0 0 NDUFS3 4722 broad.mit.edu 37 11 47603718 47603718 + Missense_Mutation SNP G C C TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr11:47603718G>C uc001nga.2 + 4 542 c.460G>C c.(460-462)Gag>Cag p.E154Q NDUFS3_uc001nft.3_Missense_Mutation_p.E133Q NM_004551 NP_004542 O75489 NDUS3_HUMAN Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase) (NDUFS3), nuclear gene encoding mitochondrial protein, mRNA. 154 induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport mitochondrial respiratory chain complex I NADH dehydrogenase (ubiquinone) activity|electron carrier activity|protein binding breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2) 9 NADH(DB00157) GACGCCCATTGAGTCTGCTGT 0.522000 75 6 0 0 1 0 0 CDKL5 6792 broad.mit.edu 37 X 18627601 18627601 + Missense_Mutation SNP A G G TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chrX:18627601A>G uc004cym.3 + 13 2316 c.2063A>G c.(2062-2064)gAc>gGc p.D688G CDKL5_uc004cyn.3_Missense_Mutation_p.D688G|CDKL5_uc022btn.1_Missense_Mutation_p.D679G NM_003159 NP_003150 O76039 CDKL5_HUMAN Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA. 688 neuron migration|positive regulation of Rac GTPase activity|positive regulation of axon extension|positive regulation of dendrite morphogenesis|protein autophosphorylation dendrite cytoplasm|dendritic growth cone|nucleus ATP binding|Rac GTPase binding|cyclin-dependent protein kinase activity NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1) 44 Hepatocellular(33;0.183) GTGTATCATGACCCACACTCT 0.438000 3 32 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38328830 38328830 + Silent SNP G A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:38328830G>A uc003aui.3 + 11 2444 c.2169G>A c.(2167-2169)gtG>gtA p.V723V NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN Homo sapiens MICAL-like 1 (MICALL1), mRNA. 723 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) ACATGCTGGTGGACTGGTTCA 0.622000 70 30 0 0 1 0 0 COL6A3 1293 broad.mit.edu 37 2 238245160 238245160 + Silent SNP G A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr2:238245160G>A uc002vwl.2 - 39 8868 c.8583C>T c.(8581-8583)aaC>aaT p.N2861N COL6A3_uc002vwo.2_Silent_p.N2655N|COL6A3_uc010znj.1_Silent_p.N2254N|COL6A3_uc002vwj.2_Silent_p.N242N NM_004369 NP_004360 P12111 CO6A3_HUMAN Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA. 2861 Nonhelical region. axon guidance|cell adhesion|muscle organ development collagen type VI|extracellular space serine-type endopeptidase inhibitor activity breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4) 217 Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203) Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034) TTGAAGTAACGTTATTCGGAA 0.398000 28 39 0 0 1 0 0 SCUBE1 80274 broad.mit.edu 37 22 43603548 43603548 + Missense_Mutation SNP T A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:43603548T>A uc003bdt.2 - 20 2933 c.2806A>T c.(2806-2808)Att>Ttt p.I936F NM_173050 NP_766638 Q8IWY4 SCUB1_HUMAN Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA. 936 adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization external side of plasma membrane|extracellular space|extrinsic to plasma membrane calcium ion binding|identical protein binding|protein heterodimerization activity autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1) 31 all_neural(38;0.0414)|Ovarian(80;0.07) ACTTTCAAAATTTCCTGGTGG 0.607000 184 11 0 0 1 0 0 LCK 3932 broad.mit.edu 37 1 32740400 32740400 + Silent SNP G T T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr1:32740400G>T uc001bux.3 + 2 306 c.168G>T c.(166-168)ccG>ccT p.P56P LCK_uc001buy.3_Silent_p.P56P|LCK_uc001buz.3_Silent_p.P56P|LCK_uc010ohc.1_Silent_p.P100P|LCK_uc001bva.3_Silent_p.P56P NM_005356 NP_005347 P06239 LCK_HUMAN Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA. 56 Interactions with CD4 and CD8 (By similarity). T cell costimulation|T cell differentiation|T cell receptor signaling pathway|activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|viral reproduction Golgi apparatus|cytosol|membrane raft|pericentriolar material|plasma membrane ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|SH2 domain binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1) 37 Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212) Dasatinib(DB01254) GCTCCAATCCGCCGGCTTCCC 0.617000 T TRB@ T-ALL 16 11 6.42651e-13 7.05863e-13 1 1 0 PNKP 11284 broad.mit.edu 37 19 50365526 50365526 + Missense_Mutation SNP G A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr19:50365526G>A uc002pqj.3 - 11 1152 c.1042C>T c.(1042-1044)Cgc>Tgc p.R348C PNKP_uc002pqg.3_Missense_Mutation_p.R129C|PNKP_uc002pqi.3_Missense_Mutation_p.R309C|PNKP_uc021uxx.1_Missense_Mutation_p.R348C NM_007254 NP_009185 Q96T60 PNKP_HUMAN Homo sapiens polynucleotide kinase 3'-phosphatase (PNKP), mRNA. 348 DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation nucleolus ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1) 19 all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231) GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134) GGCCCTGAGCGGGAGACAGTC 0.716000 Other BER factors 3 6 0 0 1 0 0 ADAM22 53616 broad.mit.edu 37 7 87810828 87810828 + Missense_Mutation SNP G A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr7:87810828G>A uc003ujn.3 + 27 2632 c.2417G>A c.(2416-2418)gGg>gAg p.G806E ADAM22_uc003ujk.2_Missense_Mutation_p.G806E|ADAM22_uc003ujl.2_Missense_Mutation_p.G770E|ADAM22_uc003ujm.3_Missense_Mutation_p.G770E|ADAM22_uc003ujo.3_Missense_Mutation_p.G770E|ADAM22_uc003ujp.1_Missense_Mutation_p.G858E NM_021723 NP_068369 Q9P0K1 ADA22_HUMAN Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA. 806 cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis integral to membrane integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3) 53 Esophageal squamous(14;0.00202) STAD - Stomach adenocarcinoma(171;0.215) AGGTCAAATGGGCTCTCTCAT 0.368000 21 17 0 0 1 0 0 POF1B 79983 broad.mit.edu 37 X 84634218 84634218 + Missense_Mutation SNP G A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chrX:84634218G>A uc004eer.2 - 1 388 c.242C>T c.(241-243)aCc>aTc p.T81I POF1B_uc004ees.3_Missense_Mutation_p.T81I NM_024921 NP_079197 Q8WVV4 POF1B_HUMAN Homo sapiens premature ovarian failure, 1B (POF1B), mRNA. 81 actin binding central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1) 35 GTAGGAGGAGGTGGTTTTGAG 0.507000 10 5 0 0 1 0 0 GRAMD4 23151 broad.mit.edu 37 22 47022726 47022726 + Missense_Mutation SNP C G G TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:47022726C>G uc003bhx.3 + 0 79 c.30C>G c.(28-30)ttC>ttG p.F10L NM_015124 NP_055939 Q6IC98 GRAM4_HUMAN Homo sapiens GRAM domain containing 4 (GRAMD4), mRNA. 10 apoptosis integral to membrane|mitochondrial membrane breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1) 12 Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416) UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166) AAATCAGGTTCAGAGGTCACA 0.552000 206 46 0 0 1 0 0 abParts 0 broad.mit.edu 37 2 90139536 90139536 + RNA SNP G T T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr2:90139536G>T uc010yts.2 + 30 c.3594G>T Parts of antibodies, mostly variable regions. CCTGCAGCCTGAAGATTTTGC 0.493000 67 4 0.00116845 0.0012044 1 1 0 DQ572979 0 broad.mit.edu 37 15 31092951 31092951 + Splice_Site SNP G A A rs34190638 by1000genomes TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr15:31092951G>A uc001zfb.3 - 1 c.33_splice c.e1+1 DQ595055_uc001zfa.3_5'Flank|JA429730_uc021shx.1_5'Flank|DQ596686_uc021shy.1_5'Flank Homo sapiens piRNA piR-41091, complete sequence. ACCCCTTCTGGGAGCCAGTGG 0.567000 9 3 0 0 1 0 0 CYP20A1 57404 broad.mit.edu 37 2 204154579 204154579 + Nonsense_Mutation SNP C T T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr2:204154579C>T uc010zif.2 + 9 1709 c.1087C>T c.(1087-1089)Cga>Tga p.R363* CYP20A1_uc002uzv.4_Nonsense_Mutation_p.R355*|CYP20A1_uc002uzx.4_Nonsense_Mutation_p.R253*|CYP20A1_uc002uzy.4_Nonsense_Mutation_p.R253*|CYP20A1_uc002uzw.4_Non-coding_Transcript|CYP20A1_uc010ftw.3_Nonsense_Mutation_p.R85* NM_177538 NP_803882 Q6UW02 CP20A_HUMAN Homo sapiens cytochrome P450, family 20, subfamily A, polypeptide 1 (CYP20A1), mRNA. 355 integral to membrane electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1) 11 AAAAATTGACCGATTTATTAT 0.333000 26 13 0 0 1 0 0 MICALL1 85377 broad.mit.edu 37 22 38328629 38328629 + Missense_Mutation SNP G A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:38328629G>A uc003aui.3 + 10 2361 c.2086G>A c.(2086-2088)Gat>Aat p.D696N NM_033386 NP_203744 Q8N3F8 MILK1_HUMAN Homo sapiens MICAL-like 1 (MICALL1), mRNA. 696 cytoplasm|cytoskeleton protein binding|zinc ion binding breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3) 24 Melanoma(58;0.045) GCGCCGGCTGGATGCCCTGGA 0.672000 65 13 0 0 1 0 0 GRM3 2913 broad.mit.edu 37 7 86416245 86416245 + Silent SNP C T T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr7:86416245C>T uc003uid.3 + 2 2236 c.1137C>T c.(1135-1137)atC>atT p.I379I GRM3_uc010lef.3_Silent_p.I377I|GRM3_uc010leg.3_Silent_p.I251I|GRM3_uc010leh.3_Intron NM_000840 NP_000831 Q14832 GRM3_HUMAN Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA. 379 synaptic transmission integral to plasma membrane p.I379M(2) NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5) 109 Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142) Acamprosate(DB00659)|Nicotine(DB00184) ACCTGGCCATCGACAGCAGCA 0.567000 7 29 0 0 1 0 0 APOL5 80831 broad.mit.edu 37 22 36124892 36124892 + Missense_Mutation SNP C G G TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:36124892C>G uc003aof.3 + 3 1249 c.1249C>G c.(1249-1251)Cca>Gca p.P417A NM_030642 NP_085145 Q9BWW9 APOL5_HUMAN Homo sapiens apolipoprotein L, 5 (APOL5), mRNA. 417 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 CCAGCCAGCCCCACCAGCACC 0.627000 62 4 0 0 1 0 0 MUC16 94025 broad.mit.edu 37 19 9059510 9059510 + Silent SNP C G G TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr19:9059510C>G uc002mkp.3 - 2 28140 c.27936G>C c.(27934-27936)gtG>gtC p.V9312V NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN Homo sapiens mucin 16, cell surface associated (MUC16), mRNA. 9314 Ser-rich.|Thr-rich. cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7) 590 CACCAGTGGGCACACTAGAAA 0.502000 82 5 0 0 1 0 0 TMEM132D 121256 broad.mit.edu 37 12 130015647 130015647 + Missense_Mutation SNP C T T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr12:130015647C>T uc009zyl.1 - 2 1400 c.1072G>A c.(1072-1074)Gct>Act p.A358T NM_133448 NP_597705 Q14C87 T132D_HUMAN Homo sapiens transmembrane protein 132D (TMEM132D), mRNA. 358 integral to membrane 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) ACGATGACAGCTGGTGCATAC 0.498000 28 5 0 0 1 0 0 RBP3 5949 broad.mit.edu 37 10 48388513 48388513 + Missense_Mutation SNP A T T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr10:48388513A>T uc001jez.3 - 0 2479 c.2365T>A c.(2365-2367)Tac>Aac p.Y789N NM_002900 NP_002891 P10745 RET3_HUMAN Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA. 789 4 X approximate tandem repeats. lipid metabolic process|proteolysis|transport|visual perception interphotoreceptor matrix retinal binding|serine-type peptidase activity central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1) 59 Vitamin A(DB00162) GCCGTGGAGTAGCTGCCAGGG 0.617000 4 13 0 0 1 0 0 GPR20 2843 broad.mit.edu 37 8 142367699 142367699 + Missense_Mutation SNP G A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr8:142367699G>A uc022bby.1 - 0 325 c.325C>T c.(325-327)Cgc>Tgc p.R109C GPR20_uc003ywf.3_Missense_Mutation_p.R109C NM_005293 NP_005284 Q99678 GPR20_HUMAN Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA. 109 integral to plasma membrane G-protein coupled receptor activity p.T108T(1)|p.R109H(1) NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2) 15 all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155) BRCA - Breast invasive adenocarcinoma(115;0.0415) ACAGCGAAGCGCGTGGGCAGG 0.617000 68 17 0 0 1 0 0 APOL5 80831 broad.mit.edu 37 22 36116679 36116679 + Silent SNP G A A TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr22:36116679G>A uc003aof.3 + 1 120 c.120G>A c.(118-120)ggG>ggA p.G40G NM_030642 NP_085145 Q9BWW9 APOL5_HUMAN Homo sapiens apolipoprotein L, 5 (APOL5), mRNA. 40 lipid metabolic process|lipid transport|lipoprotein metabolic process cytoplasm|extracellular region high-density lipoprotein particle binding|lipid binding|protein binding p.G40E(1) breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1) 19 AGGTCTGGGGGAAGTCCccag 0.512000 15 3 0 0 1 0 0 GPX1 2876 broad.mit.edu 37 3 49395674 49395679 + In_Frame_Del DEL GCCGCC - - rs56041243 TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr3:49395674_49395679delGCCGCC uc021wxw.1 - 0 113_118 c.33_38delGGCGGC c.(31-39)gcggcggcc>gcc p.11_13AAA>A GPX1_uc021wxx.1_In_Frame_Del_p.11_13AAA>A NM_000581 NP_000572 P07203 GPX1_HUMAN Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA. 11 UV protection|anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion cytosol|mitochondrion SH3 domain binding|endopeptidase inhibitor activity|glutathione peroxidase activity p.A12_A13delAA(2) breast(1)|large_intestine(2)|lung(1) 4 BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244) Glutathione(DB00143) CACCGACTGGgccgccgccgccgccg 0.694 --- 4 --- --- 3 --- MYO10 4651 broad.mit.edu 37 5 16764407 16764408 + Frame_Shift_Ins INS - T T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr5:16764407_16764408insT uc003jft.4 - 11 1745_1746 c.1277_1278insA c.(1276-1278)gacfs p.D426fs MYO10_uc010itx.3_Frame_Shift_Ins_p.D49fs NM_012334 NP_036466 Q9HD67 MYO10_HUMAN Homo sapiens myosin X (MYO10), mRNA. 426 Myosin head-like. axon guidance|signal transduction myosin complex ATP binding|actin binding|motor activity NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2) 86 TAGACTTGAAGTCCTCATTGCC 0.470 --- 1091 --- --- 11 --- HR 55806 broad.mit.edu 37 8 21977633 21977633 + Frame_Shift_Del DEL C - - TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr8:21977633delC uc003xas.3 - 12 3495 c.2830delG c.(2830-2832)gatfs p.D944fs HR_uc003xat.3_Frame_Shift_Del_p.D944fs NM_005144 NP_005135 O43593 HAIR_HUMAN Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA. 944 DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1) 27 Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116) KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1) GTGTCCTCATCCCCCAAAGCT 0.657 --- 4 --- --- 2 --- OVOS2 0 broad.mit.edu 37 12 31270080 31270081 + In_Frame_Ins INS - AAA AAA rs112314315 TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr12:31270080_31270081insAAA uc010sjy.1 - 27 3788_3789 c.3788_3789insTTT c.(3787-3789)atc>atTTTc p.1263_1264insF OVOS2_uc001rjy.3_Intron|OVOS2_uc001rjz.3_Intron RecName: Full=Ovostatin homolog 2; Flags: Precursor; all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233) CGTTAAACTGGATCTCACTGGA 0.505 --- 7 --- --- 6 --- C12orf51 283450 broad.mit.edu 37 12 112622883 112622885 + In_Frame_Del DEL GAG - - TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr12:112622883_112622885delGAG uc021reb.1 - 60 9879_9881 c.9483_9485delCTC c.(9481-9486)tcctcg>tcg p.3161_3162SS>S NM_001109662 NP_001103132 Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA. breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6) 100 TGGGGAGGACGAGGAGGAGGAGG 0.601 --- 4 --- --- 2 --- NF1 4763 broad.mit.edu 37 17 29527570 29527571 + Frame_Shift_Ins INS - T T TCGA-FS-A4F4-06A-12D-A25O-08 TCGA-FS-A4F4-10B-01D-A25O-08 Untested Somatic Phase_I WXS none Illumina GAIIx 64DB7DA9-EAC4-4C57-9263-606F4693D72F 40B28800-15B2-4DAA-BDEA-491C7F5CDED9 g.chr17:29527570_29527571insT uc002hgg.3 + 8 1402_1403 c.1019_1020insT c.(1018-1020)tctfs p.S340fs NF1_uc002hge.2_Frame_Shift_Ins_p.S340fs|NF1_uc002hgf.2_Frame_Shift_Ins_p.S340fs|NF1_uc002hgh.3_Frame_Shift_Ins_p.S340fs|NF1_uc010csn.2_Frame_Shift_Ins_p.S200fs NM_001042492 NP_001035957 P21359 NF1_HUMAN Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA. 340 MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus Ras GTPase activator activity|protein binding p.0?(8)|p.?(6) NF1/ACCN1(2) autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9) 599 all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659) UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146) GAAGATAACTCTGTCATTTTCC 0.381 """D, Mis, N, F, S, O""" """neurofibroma, glioma""" """neurofibroma, glioma""" Neurofibromatosis, type 1 TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088) --- 20 --- --- 12 ---