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 CROCC 9696 broad.mit.edu 37 1 17281847 17281847 + Missense_Mutation SNP C T T TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr1:17281847C>T uc001azt.2 + 24 3575 c.3506C>T c.(3505-3507)GCC>GTC p.A1169V CROCC_uc001azu.2_Missense_Mutation_p.A472V NM_014675 NP_055490 Q5TZA2 CROCC_HUMAN ciliary rootlet coiled-coil 1169 Potential. cell cycle|cell projection organization|centrosome organization|protein localization actin cytoskeleton|centriole|ciliary rootlet|plasma membrane kinesin binding|structural molecule activity ovary(2)|breast(2)|central_nervous_system(1) 5 Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255) UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181) CTGGAGGATGCCCGTGACGGG 0.711 GLIS1 148979 broad.mit.edu 37 1 54060541 54060541 + Missense_Mutation SNP C A A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr1:54060541C>A uc001cvr.1 - 3 602 c.35G>T c.(34-36)TGT>TTT p.C12F NM_147193 NP_671726 Q8NBF1 GLIS1_HUMAN GLIS family zinc finger 1 12 negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter nucleus DNA binding|zinc ion binding skin(1) 1 CGGGCCCCGACAGTGGGCAGA 0.657 RSBN1 54665 broad.mit.edu 37 1 114354435 114354435 + Silent SNP G C C TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr1:114354435G>C uc001edq.2 - 1 636 c.600C>G c.(598-600)CCC>CCG p.P200P RSBN1_uc001edr.2_RNA NM_018364 NP_060834 Q5VWQ0 RSBN1_HUMAN round spermatid basic protein 1 200 nucleus ovary(1) 1 Lung SC(450;0.184) all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05) Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133) GATCACCATCGGGGCCGCGGT 0.637 F5 2153 broad.mit.edu 37 1 169510453 169510453 + Missense_Mutation SNP G A A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr1:169510453G>A uc001ggg.1 - 13 4020 c.3875C>T c.(3874-3876)ACA>ATA p.T1292I NM_000130 NP_000121 P12259 FA5_HUMAN coagulation factor V precursor 1292 2-12.|B.|35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T. cell adhesion|platelet activation|platelet degranulation plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1) 6 all_hematologic(923;0.208) Drotrecogin alfa(DB00055) AGAGAGGTTTGTCTGGCTGAA 0.522 OR2T10 127069 broad.mit.edu 37 1 248756796 248756796 + Missense_Mutation SNP T C C TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr1:248756796T>C uc010pzn.1 - 1 274 c.274A>G c.(274-276)ATC>GTC p.I92V NM_001004693 NP_001004693 Q8NGZ9 O2T10_HUMAN olfactory receptor, family 2, subfamily T, 92 Extracellular (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(1) 1 all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136) OV - Ovarian serous cystadenocarcinoma(106;0.0265) AGGACCGAGATGGTCTTGTCT 0.507 ST8SIA6 338596 broad.mit.edu 37 10 17363244 17363244 + Missense_Mutation SNP G A A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr10:17363244G>A uc001ipd.2 - 8 830 c.830C>T c.(829-831)ACG>ATG p.T277M ST8SIA6_uc010qce.1_RNA NM_001004470 NP_001004470 P61647 SIA8F_HUMAN ST8 alpha-N-acetyl-neuraminide 277 Lumenal (Potential). post-translational protein modification|protein N-linked glycosylation via asparagine integral to Golgi membrane alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity ovary(1) 1 AGAGGTACCCGTGTTGGCCCT 0.418 OR10A3 26496 broad.mit.edu 37 11 7960683 7960683 + Missense_Mutation SNP G A A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr11:7960683G>A uc010rbi.1 - 1 385 c.385C>T c.(385-387)CCT>TCT p.P129S NM_001003745 NP_001003745 P58181 O10A3_HUMAN olfactory receptor, family 10, subfamily A, 129 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity pancreas(1) 1 Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189) TAGTTCAGAGGATGGCAAATT 0.438 ELP4 26610 broad.mit.edu 37 11 31531364 31531364 + Silent SNP C G G TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr11:31531364C>G uc001mtb.2 + 1 68 c.33C>G c.(31-33)GCC>GCG p.A11A IMMP1L_uc001msy.1_5'Flank|IMMP1L_uc001msz.1_5'Flank|ELP4_uc001mta.1_RNA|ELP4_uc001mtc.2_Silent_p.A11A|ELP4_uc010rdz.1_Silent_p.A11A|IMMP1L_uc009yjo.2_5'Flank|IMMP1L_uc009yjp.2_5'Flank NM_019040 NP_061913 Q96EB1 ELP4_HUMAN elongation protein 4 homolog 11 histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex phosphorylase kinase regulator activity|protein binding upper_aerodigestive_tract(1)|ovary(1)|prostate(1) 3 Lung SC(675;0.225) GTAGTGTTGCCGCGAGTACTG 0.587 KAT5 10524 broad.mit.edu 37 11 65486084 65486084 + Missense_Mutation SNP G A A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr11:65486084G>A uc001ofi.2 + 12 1439 c.1189G>A c.(1189-1191)GGG>AGG p.G397R KAT5_uc001ofj.2_Missense_Mutation_p.G345R|KAT5_uc001ofk.2_Missense_Mutation_p.G430R|KAT5_uc010roo.1_Missense_Mutation_p.G378R|KAT5_uc001ofl.2_Missense_Mutation_p.G186R|RNASEH2C_uc001ofm.2_RNA|RNASEH2C_uc001ofn.2_3'UTR NM_006388 NP_006379 Q92993 KAT5_HUMAN K(lysine) acetyltransferase 5 isoform 2 397 androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity 0 CAAAGTGGAAGGGAAAACAGG 0.468 KRT75 9119 broad.mit.edu 37 12 52824357 52824357 + Missense_Mutation SNP G A A rs2232397 byFrequency TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr12:52824357G>A uc001saj.2 - 5 1025 c.1003C>T c.(1003-1005)CGG>TGG p.R335W NM_004693 NP_004684 O95678 K2C75_HUMAN keratin 75 335 Coil 2.|Rod. keratin filament structural molecule activity 0 BRCA - Breast invasive adenocarcinoma(357;0.192) GCCTCGGCCCGGCTGCGGTTG 0.547 ACTR6 64431 broad.mit.edu 37 12 100601474 100601474 + Missense_Mutation SNP G A A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr12:100601474G>A uc001thb.1 + 4 345 c.289G>A c.(289-291)GAA>AAA p.E97K ACTR6_uc010svh.1_Missense_Mutation_p.E97K|ACTR6_uc001thc.1_5'UTR|ACTR6_uc001thd.1_Missense_Mutation_p.E97K|ACTR6_uc009ztu.1_5'UTR|ACTR6_uc001the.1_Missense_Mutation_p.E15K|ACTR6_uc001thf.1_Missense_Mutation_p.E15K|uc001thg.1_Intron NM_022496 NP_071941 Q9GZN1 ARP6_HUMAN ARP6 actin-related protein 6 homolog 97 cytoplasm|cytoskeleton ovary(1) 1 TATTATCACTGAACCATACTT 0.244 SYCP3 50511 broad.mit.edu 37 12 102128812 102128812 + Missense_Mutation SNP G T T TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr12:102128812G>T uc001tiq.2 - 5 378 c.246C>A c.(244-246)AAC>AAA p.N82K SYCP3_uc001tir.2_Missense_Mutation_p.N82K|SYCP3_uc001tis.2_Missense_Mutation_p.N82K NM_153694 NP_710161 Q8IZU3 SYCP3_HUMAN synaptonemal complex protein 3 82 cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins nucleus DNA binding 0 GAAGAGCCTTGTTAATGTCAA 0.308 EIF2B1 1967 broad.mit.edu 37 12 124111633 124111633 + Missense_Mutation SNP C T T TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr12:124111633C>T uc001ufm.2 - 5 583 c.440G>A c.(439-441)CGA>CAA p.R147Q EIF2B1_uc001ufn.2_Missense_Mutation_p.R147Q|EIF2B1_uc010tat.1_Missense_Mutation_p.R147Q NM_001414 NP_001405 Q14232 EI2BA_HUMAN eukaryotic translation initiation factor 2B, 147 cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane protein binding|translation initiation factor activity 0 all_neural(191;0.101)|Medulloblastoma(191;0.163) OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489) TACACTAAATCGCTTCTTGGC 0.502 TMEM62 80021 broad.mit.edu 37 15 43476674 43476674 + Missense_Mutation SNP C T T rs146146981 byFrequency TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr15:43476674C>T uc001zqr.2 + 14 2101 c.1822C>T c.(1822-1824)CGG>TGG p.R608W TMEM62_uc010bda.2_Missense_Mutation_p.R443W|TMEM62_uc001zqt.2_Missense_Mutation_p.R177W|CCNDBP1_uc001zqu.2_5'Flank|CCNDBP1_uc001zqv.2_5'Flank|CCNDBP1_uc010bdc.2_5'Flank|CCNDBP1_uc010bdb.2_5'Flank|CCNDBP1_uc010udl.1_5'Flank|CCNDBP1_uc001zqw.2_5'Flank|CCNDBP1_uc001zqx.2_5'Flank|CCNDBP1_uc010bdd.2_5'Flank|CCNDBP1_uc001zqy.2_5'Flank NM_024956 NP_079232 Q0P6H9 TMM62_HUMAN transmembrane protein 62 608 Helical; (Potential). integral to membrane ovary(1)|breast(1) 2 all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728) GBM - Glioblastoma multiforme(94;4.23e-07) CTCCCCTTTGCGGACCTGGTT 0.448 MYO5A 4644 broad.mit.edu 37 15 52681529 52681529 + Missense_Mutation SNP T G G TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr15:52681529T>G uc002aby.2 - 13 1818 c.1574A>C c.(1573-1575)CAA>CCA p.Q525P MYO5A_uc002abx.3_Missense_Mutation_p.Q525P|MYO5A_uc010uge.1_Missense_Mutation_p.Q394P NM_000259 NP_000250 Q9Y4I1 MYO5A_HUMAN myosin VA isoform 1 525 Myosin head-like. actin filament-based movement|transport cytoplasm|growth cone|myosin complex|ruffle actin binding|ATP binding|calmodulin binding|microfilament motor activity ovary(3)|central_nervous_system(1) 4 all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196) GTACAATTTTTGGGCCCAGGT 0.378 TMC3 342125 broad.mit.edu 37 15 81625404 81625404 + Missense_Mutation SNP A C C TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr15:81625404A>C uc002bgo.1 - 22 2659 c.2659T>G c.(2659-2661)TAC>GAC p.Y887D TMC3_uc010blr.1_RNA NM_001080532 NP_001074001 Q7Z5M5 TMC3_HUMAN transmembrane channel-like 3 887 Cytoplasmic (Potential). integral to membrane ovary(1)|liver(1) 2 ATGACATAGTATCTGGGGGCG 0.473 RANBP10 57610 broad.mit.edu 37 16 67840366 67840366 + Frame_Shift_Del DEL C - - TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr16:67840366delC uc002eud.2 - 1 190 c.74delG c.(73-75)GGCfs p.G25fs RANBP10_uc010ceo.2_5'UTR|RANBP10_uc010vju.1_Frame_Shift_Del_p.G25fs|RANBP10_uc010vjv.1_5'UTR|RANBP10_uc010vjx.1_Frame_Shift_Del_p.G25fs|RANBP10_uc010vjy.1_5'UTR|TSNAXIP1_uc010cep.2_5'Flank|TSNAXIP1_uc010vjz.1_5'Flank|TSNAXIP1_uc002euf.3_5'Flank|TSNAXIP1_uc010vka.1_5'Flank|TSNAXIP1_uc010vkb.1_5'Flank|TSNAXIP1_uc002eug.3_5'Flank|TSNAXIP1_uc002euh.3_5'Flank|TSNAXIP1_uc002eui.3_5'Flank|TSNAXIP1_uc002euj.2_5'Flank NM_020850 NP_065901 Q6VN20 RBP10_HUMAN RAN binding protein 10 25 ovary(1) 1 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) CGGCAGCCCGCCCCCAGCGCC 0.711 TP53 7157 broad.mit.edu 37 17 7578211 7578211 + Missense_Mutation SNP C T T TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr17:7578211C>T uc002gim.2 - 6 832 c.638G>A c.(637-639)CGA>CAA p.R213Q TP53_uc002gig.1_Missense_Mutation_p.R213Q|TP53_uc002gih.2_Missense_Mutation_p.R213Q|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R81Q|TP53_uc010cng.1_Missense_Mutation_p.R81Q|TP53_uc002gii.1_Missense_Mutation_p.R81Q|TP53_uc010cnh.1_Missense_Mutation_p.R213Q|TP53_uc010cni.1_Missense_Mutation_p.R213Q|TP53_uc002gij.2_Missense_Mutation_p.R213Q|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.R120Q|TP53_uc002gio.2_Missense_Mutation_p.R81Q|TP53_uc010vug.1_Missense_Mutation_p.R174Q NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 213 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). R -> L (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.R213*(182)|p.R213L(25)|p.R213Q(22)|p.R213fs*34(10)|p.0?(7)|p.R213P(5)|p.R213G(2)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R213*33(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) CACACTATGTCGAAAAGTGTT 0.532 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) INSR 3643 broad.mit.edu 37 19 7120678 7120678 + Silent SNP T C C TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr19:7120678T>C uc002mgd.1 - 20 3721 c.3612A>G c.(3610-3612)GCA>GCG p.A1204A INSR_uc002mge.1_Silent_p.A1192A NM_000208 NP_000199 P06213 INSR_HUMAN insulin receptor isoform Long precursor 1204 Protein kinase.|Cytoplasmic (Potential). activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus caveola|endosome membrane|insulin receptor complex|microsome ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding ovary(4)|lung(3)|central_nervous_system(2)|large_intestine(1)|stomach(1)|skin(1) 12 Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071) GGGACTCCGGTGCCATCCACC 0.522 PNPLA6 10908 broad.mit.edu 37 19 7622102 7622102 + Missense_Mutation SNP T C C TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr19:7622102T>C uc010xjq.1 + 29 3554 c.3359T>C c.(3358-3360)CTG>CCG p.L1120P PNPLA6_uc002mgq.1_Missense_Mutation_p.L1072P|PNPLA6_uc010xjp.1_Missense_Mutation_p.L1045P|PNPLA6_uc002mgr.1_Missense_Mutation_p.L1072P|PNPLA6_uc002mgs.2_Missense_Mutation_p.L1110P|PNPLA6_uc002mgt.1_RNA NM_006702 NP_006693 Q8IY17 PLPL6_HUMAN neuropathy target esterase isoform b 1111 Patatin.|Cytoplasmic (Potential). cell death|lipid catabolic process|phosphatidylcholine metabolic process endoplasmic reticulum membrane|integral to membrane lysophospholipase activity ovary(3) 3 TCGGGCTACCTGCCCCCGCTG 0.662 SLC1A6 6511 broad.mit.edu 37 19 15061033 15061033 + Missense_Mutation SNP G A A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr19:15061033G>A uc002naa.1 - 9 1677 c.1669C>T c.(1669-1671)CGG>TGG p.R557W SLC1A6_uc010dzu.1_Missense_Mutation_p.R479W|SLC1A6_uc010xod.1_Missense_Mutation_p.R493W NM_005071 NP_005062 P48664 EAA4_HUMAN solute carrier family 1 (high affinity 557 synaptic transmission integral to plasma membrane|membrane fraction high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity pancreas(3)|ovary(2)|skin(1) 6 L-Glutamic Acid(DB00142) TTGCCTCCCCGTCCCCGGGAT 0.647 FFAR3 2865 broad.mit.edu 37 19 35850547 35850547 + Missense_Mutation SNP G T T TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr19:35850547G>T uc002nzd.2 + 2 830 c.755G>T c.(754-756)GGT>GTT p.G252V FFAR3_uc010xsu.1_Intron NM_005304 NP_005295 O14843 FFAR3_HUMAN free fatty acid receptor 3 252 Extracellular (Potential). integral to plasma membrane G-protein coupled receptor activity|lipid binding 0 all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162) Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221) TATATCTGCGGTGAAAGCCCG 0.607 DPRX 503834 broad.mit.edu 37 19 54140039 54140039 + Nonsense_Mutation SNP C T T rs150237904 TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr19:54140039C>T uc002qcf.1 + 3 424 c.373C>T c.(373-375)CGA>TGA p.R125* NM_001012728 NP_001012746 A6NFQ7 DPRX_HUMAN divergent-paired related homeobox 125 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 Ovarian(34;0.19) GBM - Glioblastoma multiforme(134;0.013) CACGGGTCATCGAGTCCCCTC 0.567 C2orf39 92749 broad.mit.edu 37 2 26637295 26637295 + Missense_Mutation SNP G A A rs148643291 by1000genomes TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr2:26637295G>A uc002rhg.2 + 2 313 c.239G>A c.(238-240)CGA>CAA p.R80Q C2orf39_uc010eym.1_RNA NM_145038 NP_659475 Q96MC2 CC164_HUMAN hypothetical protein LOC92749 80 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GAAGAAAGCCGATTGGTATGA 0.448 LRP2 4036 broad.mit.edu 37 2 170163790 170163790 + Splice_Site SNP C T T TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr2:170163790C>T uc002ues.2 - 4 640 c.427_splice c.e4+1 p.Q143_splice LRP2_uc010zdf.1_Splice_Site_p.Q143_splice NM_004525 NP_004516 P98164 LRP2_HUMAN low density lipoprotein-related protein 2 hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process coated pit|integral to membrane|lysosome calcium ion binding|receptor activity|SH3 domain binding ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1) 29 STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101) Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013) AACAGACTCACGGCAGTCATT 0.438 ICA1L 130026 broad.mit.edu 37 2 203650727 203650727 + Missense_Mutation SNP C G G TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr2:203650727C>G uc002uzh.1 - 13 1411 c.1247G>C c.(1246-1248)TGG>TCG p.W416S ICA1L_uc002uzi.1_Missense_Mutation_p.W416S NM_138468 NP_612477 Q8NDH6 ICA1L_HUMAN islet cell autoantigen 1,69kDa-like isoform 1 416 0 TTGGGAGACCCAGTCTGGGAT 0.358 C20orf114 92747 broad.mit.edu 37 20 31878893 31878893 + Missense_Mutation SNP C T T rs149436006 byFrequency TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr20:31878893C>T uc002wyw.1 + 5 657 c.496C>T c.(496-498)CGC>TGC p.R166C C20orf114_uc010gej.1_Missense_Mutation_p.R166C NM_033197 NP_149974 Q8TDL5 LPLC1_HUMAN LPLUNC1 protein precursor 166 extracellular space lipid binding central_nervous_system(2)|skin(2) 4 TGGGAGCCTGCGCATCCAACT 0.507 TRIOBP 11078 broad.mit.edu 37 22 38120288 38120288 + Silent SNP C T T TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr22:38120288C>T uc003atr.2 + 7 1996 c.1725C>T c.(1723-1725)CCC>CCT p.P575P TRIOBP_uc003atu.2_Silent_p.P403P|TRIOBP_uc003atq.1_Silent_p.P575P|TRIOBP_uc003ats.1_Silent_p.P403P NM_001039141 NP_001034230 Q9H2D6 TARA_HUMAN TRIO and F-actin binding protein isoform 6 575 actin modification|barbed-end actin filament capping actin cytoskeleton|cytoplasm|nucleus actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding central_nervous_system(1) 1 Melanoma(58;0.0574) GAGACAACCCCAGAACATCCT 0.582 DOCK3 1795 broad.mit.edu 37 3 51315131 51315131 + Silent SNP C T T TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr3:51315131C>T uc011bds.1 + 26 2792 c.2769C>T c.(2767-2769)CAC>CAT p.H923H NM_004947 NP_004938 Q8IZD9 DOCK3_HUMAN dedicator of cytokinesis 3 923 cytoplasm GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding 0 BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518) GCAAATCGCACGCTCAGGAGG 0.552 FHIT 2272 broad.mit.edu 37 3 59999845 59999845 + Missense_Mutation SNP C T T TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr3:59999845C>T uc003dkx.3 - 6 508 c.137G>A c.(136-138)CGC>CAC p.R46H FHIT_uc003dky.2_Missense_Mutation_p.R46H|FHIT_uc010hnn.1_Missense_Mutation_p.R46H NM_002012 NP_002003 P49789 FHIT_HUMAN fragile histidine triad gene 46 HIT. nucleotide metabolic process bis(5'-adenosyl)-triphosphatase activity|protein binding 0 all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408) UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448) GTCATGGAAGCGCTCCACTGG 0.542 T HMGA2 pleomorphic salivary gland adenoma Renal_Cell_Cancer_associated_with_constitutional_translocation_of_chromosome_3 ZBED2 79413 broad.mit.edu 37 3 111312907 111312907 + Missense_Mutation SNP G A A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr3:111312907G>A uc003dxy.2 - 2 1027 c.142C>T c.(142-144)CAC>TAC p.H48Y CD96_uc003dxv.2_Intron|CD96_uc003dxw.2_Intron|CD96_uc003dxx.2_Intron|CD96_uc010hpy.1_Intron NM_024508 NP_078784 Q9BTP6 ZBED2_HUMAN zinc finger, BED domain containing 2 48 DNA binding|metal ion binding skin(1) 1 CCCTTGTTGTGGGGCATTGGA 0.552 C3orf15 89876 broad.mit.edu 37 3 119462849 119462849 + Missense_Mutation SNP G A A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr3:119462849G>A uc003ede.3 + 14 1785 c.1708G>A c.(1708-1710)GGA>AGA p.G570R C3orf15_uc010hqz.2_Missense_Mutation_p.G508R|C3orf15_uc011bjd.1_Missense_Mutation_p.G444R|C3orf15_uc011bje.1_Missense_Mutation_p.G550R NM_033364 NP_203528 Q7Z4T9 AAT1_HUMAN AAT1-alpha 406 Potential. mitochondrion protein binding ovary(2)|pancreas(1) 3 GBM - Glioblastoma multiforme(114;0.186) CCATTTGGCCGGACTGGAAGG 0.453 MECOM 2122 broad.mit.edu 37 3 168833248 168833248 + Silent SNP G A A rs140021434 TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr3:168833248G>A uc003ffi.3 - 7 2117 c.1848C>T c.(1846-1848)AAC>AAT p.N616N MECOM_uc010hwk.1_Silent_p.N639N|MECOM_uc003ffj.3_Silent_p.N681N|MECOM_uc011bpi.1_Silent_p.N617N|MECOM_uc003ffn.3_Silent_p.N616N|MECOM_uc003ffk.2_Silent_p.N616N|MECOM_uc003ffl.2_Silent_p.N776N|MECOM_uc011bpj.1_Silent_p.N804N|MECOM_uc011bpk.1_Silent_p.N606N|MECOM_uc010hwn.2_Silent_p.N804N NM_005241 NP_005232 Q03112 EVI1_HUMAN MDS1 and EVI1 complex locus isoform b 616 apoptosis|cell differentiation|hemopoietic stem cell proliferation|negative regulation of JNK cascade|negative regulation of programmed cell death|negative regulation of transcription, DNA-dependent|regulation of cell cycle nuclear speck DNA binding|protein binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(5)|skin(5)|upper_aerodigestive_tract(1)|central_nervous_system(1)|ovary(1)|pancreas(1) 14 TTGATTCGACGTTGCTTCCTT 0.488 SDHAP2 727956 broad.mit.edu 37 3 195400795 195400795 + Missense_Mutation SNP C T T rs7615357 by1000genomes TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr3:195400795C>T uc003fuw.2 + 9 1285 c.91C>T c.(91-93)CGC>TGC p.R31C SDHAP2_uc011btb.1_Missense_Mutation_p.S178L|SDHAP2_uc011btc.1_RNA|SDHAP2_uc003fuv.2_RNA SubName: Full=cDNA FLJ16373 fis, clone THYMU3000269, highly similar to Succinate dehydrogenase (ubiquinone) flavoprotein subunit, mitochondrial (EC 1.3.5.1); 0 GGGGCAAACTCGCTGTTGGAC 0.592 JAKMIP1 152789 broad.mit.edu 37 4 6062187 6062187 + Silent SNP G A A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr4:6062187G>A uc003giu.3 - 11 1884 c.1608C>T c.(1606-1608)ATC>ATT p.I536I JAKMIP1_uc010idb.1_Silent_p.I536I|JAKMIP1_uc010idc.1_Silent_p.I351I|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc011bwc.1_Silent_p.I371I|JAKMIP1_uc003giv.3_Silent_p.I536I|JAKMIP1_uc010ide.2_Silent_p.I536I NM_144720 NP_653321 Q96N16 JKIP1_HUMAN janus kinase and microtubule interacting protein 536 Mediates interaction with TYK2 and GABBR1.|Potential. protein transport cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex GABA receptor binding|RNA binding large_intestine(1)|pancreas(1)|ovary(1)|skin(1) 4 CCAAATCTTCGATTTTGGCCT 0.532 ABLIM2 84448 broad.mit.edu 37 4 8089918 8089918 + Silent SNP C T T TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr4:8089918C>T uc003gko.2 - 4 575 c.432G>A c.(430-432)GCG>GCA p.A144A ABLIM2_uc003gkj.3_Silent_p.A144A|ABLIM2_uc003gkm.3_Silent_p.A144A|ABLIM2_uc003gkp.2_Silent_p.A144A|ABLIM2_uc003gkq.2_Silent_p.A144A|ABLIM2_uc003gkr.2_Silent_p.A144A|ABLIM2_uc003gks.3_Silent_p.A144A|ABLIM2_uc011bwl.1_Silent_p.A149A NM_001130084 NP_001123556 Q6H8Q1 ABLM2_HUMAN actin binding LIM protein family, member 2 144 axon guidance|cytoskeleton organization actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus actin binding|zinc ion binding pancreas(3) 3 GGGACAGGTGCGCGCTGCTGC 0.632 SORBS2 8470 broad.mit.edu 37 4 186545046 186545046 + Missense_Mutation SNP G A A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr4:186545046G>A uc003iyl.2 - 13 2383 c.1525C>T c.(1525-1527)CGC>TGC p.R509C SORBS2_uc003iyh.2_Intron|SORBS2_uc011ckw.1_Intron|SORBS2_uc003iyi.2_Intron|SORBS2_uc011ckx.1_Intron|SORBS2_uc003iyk.2_Intron|SORBS2_uc003iym.2_Missense_Mutation_p.R609C|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.1_Intron|SORBS2_uc011ckv.1_Missense_Mutation_p.R413C|SORBS2_uc003iyd.2_Intron|SORBS2_uc003iye.2_Intron|SORBS2_uc003iya.2_Intron|SORBS2_uc003iyb.2_Intron|SORBS2_uc003iyc.2_Intron|SORBS2_uc003iyg.2_Missense_Mutation_p.R623C|SORBS2_uc003iyf.2_Intron|SORBS2_uc003iyo.1_Intron NM_021069 NP_066547 O94875 SRBS2_HUMAN sorbin and SH3 domain containing 2 isoform 2 509 actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(1) 1 all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244) OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205) TCGGAGATGCGTGTGGGCACC 0.572 PIK3R1 5295 broad.mit.edu 37 5 67589601 67589602 + In_Frame_Ins INS - GTT GTT TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr5:67589601_67589602insGTT uc003jva.2 + 11 1924_1925 c.1364_1365insGTT c.(1363-1365)CAG>CAGTTG p.455_456insL PIK3R1_uc003jvb.2_In_Frame_Ins_p.455_456insL|PIK3R1_uc003jvc.2_In_Frame_Ins_p.155_156insL|PIK3R1_uc003jvd.2_In_Frame_Ins_p.185_186insL|PIK3R1_uc003jve.2_In_Frame_Ins_p.134_135insL|PIK3R1_uc011crb.1_In_Frame_Ins_p.125_126insL NM_181523 NP_852664 P27986 P85A_HUMAN phosphoinositide-3-kinase, regulatory subunit 1 455_456 epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway 1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex 1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding p.D434_Q475del(2)|p.T454_Q455>Q(1)|p.Y452_Q455>SGGSRIK(1)|p.?(1)|p.F456_R461del(1)|p.T454_D464del(1) endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1) 101 Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176) OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211) Isoproterenol(DB01064) TATAACACTCAGTTTCAAGAAA 0.287 Mis|F|O gliobastoma|ovarian|colorectal TCGA GBM(4;<1E-08) TMEM174 134288 broad.mit.edu 37 5 72469563 72469563 + Missense_Mutation SNP G A A rs138671212 TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr5:72469563G>A uc010izc.2 + 1 541 c.493G>A c.(493-495)GGC>AGC p.G165S NM_153217 NP_694949 Q8WUU8 TM174_HUMAN transmembrane protein 174 165 integral to membrane ovary(1) 1 Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165) OV - Ovarian serous cystadenocarcinoma(47;1.46e-54) GAGCCCCTGCGGCCTCATAAC 0.547 HTR4 3360 broad.mit.edu 37 5 147830788 147830788 + Missense_Mutation SNP G A A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr5:147830788G>A uc003lpj.1 - 7 1288 c.1124C>T c.(1123-1125)CCC>CTC p.P375L HTR4_uc010jgu.1_RNA|HTR4_uc003lpi.1_3'UTR NM_001040169 NP_001035259 Q13639 5HT4R_HUMAN serotonin 5-HT4 receptor isoform a Error:Variant_position_missing_in_Q13639_after_alignment G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation endosome|integral to plasma membrane|membrane fraction serotonin receptor activity ovary(1) 1 KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191) Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315) ATTGTGTATGGGCAGTTTCTC 0.468 PDGFRB 5159 broad.mit.edu 37 5 149501489 149501489 + Silent SNP G T T TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr5:149501489G>T uc003lro.2 - 16 2767 c.2298C>A c.(2296-2298)ATC>ATA p.I766I PDGFRB_uc010jhd.2_Silent_p.I605I NM_002609 NP_002600 P09619 PGFRB_HUMAN platelet-derived growth factor receptor beta 766 Cytoplasmic (Potential).|Protein kinase. aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity central_nervous_system(4)|lung(4)|breast(3)|stomach(2)|prostate(2)|large_intestine(1)|ovary(1) 17 all_hematologic(541;0.224) KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101) Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268) TGGAGGACTCGATGTCTGCAT 0.532 T ETV6|TRIP11|HIP1|RAB5EP|H4|NIN|HCMOGT-1|PDE4DIP MPD|AML|CMML|CML KIF13A 63971 broad.mit.edu 37 6 17805708 17805708 + Nonsense_Mutation SNP C A A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr6:17805708C>A uc003ncg.3 - 19 2407 c.2302G>T c.(2302-2304)GAG>TAG p.E768* KIF13A_uc003ncf.2_Nonsense_Mutation_p.E768*|KIF13A_uc003nch.3_Nonsense_Mutation_p.E768*|KIF13A_uc003nci.3_Nonsense_Mutation_p.E768* NM_022113 NP_071396 Q9H1H9 KI13A_HUMAN kinesin family member 13A isoform a 768 Potential. cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane ATP binding|microtubule motor activity|protein binding large_intestine(2)|ovary(2) 4 Breast(50;0.0107)|Ovarian(93;0.016) all_hematologic(90;0.125) all cancers(50;0.0865)|Epithelial(50;0.0974) TCTTTTACCTCAGGAACTTTT 0.303 MPP6 51678 broad.mit.edu 37 7 24727093 24727093 + Missense_Mutation SNP C T T TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr7:24727093C>T uc003swx.2 + 13 1782 c.1483C>T c.(1483-1485)CGG>TGG p.R495W MPP6_uc003swy.2_Missense_Mutation_p.R495W|MPP6_uc010kur.2_Missense_Mutation_p.R163W NM_016447 NP_057531 Q9NZW5 MPP6_HUMAN membrane protein, palmitoylated 6 495 Guanylate kinase-like. protein complex assembly protein binding 0 TGAAAGTGCACGGATTCAGAG 0.348 AOAH 313 broad.mit.edu 37 7 36571798 36571798 + Silent SNP G A A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr7:36571798G>A uc003tfh.3 - 18 1781 c.1380C>T c.(1378-1380)CAC>CAT p.H460H AOAH_uc010kxf.2_Silent_p.H460H|AOAH_uc011kba.1_Silent_p.H428H NM_001637 NP_001628 P28039 AOAH_HUMAN acyloxyacyl hydrolase precursor 460 inflammatory response|lipid metabolic process extracellular region acyloxyacyl hydrolase activity|lipoprotein lipase activity skin(1) 1 ACATCCAGCCGTGGCAGGGGC 0.512 FAM183B 340286 broad.mit.edu 37 7 38725645 38725645 + Missense_Mutation SNP G A A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr7:38725645G>A uc011kbd.1 - 2 948 c.652C>T c.(652-654)CGC>TGC p.R218C NR_028347 Homo sapiens cDNA FLJ42138 fis, clone TESTI2036684. 0 CTCTCTCGGCGTCCTCTTACC 0.622 VSTM2A 222008 broad.mit.edu 37 7 54617588 54617588 + Missense_Mutation SNP A G G TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr7:54617588A>G uc010kzf.2 + 4 764 c.359A>G c.(358-360)AAG>AGG p.K120R VSTM2A_uc010kze.2_Missense_Mutation_p.K120R|VSTM2A_uc003tqc.3_Missense_Mutation_p.K120R NM_182546 NP_872352 Q8TAG5 VTM2A_HUMAN V-set and transmembrane domain containing 2 120 Ig-like V-type. extracellular region 0 STAD - Stomach adenocarcinoma(5;0.0525) GTGAGGAAAAAGGATGAAGGC 0.443 CCT6A 908 broad.mit.edu 37 7 56127280 56127280 + Missense_Mutation SNP G A A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr7:56127280G>A uc003trl.1 + 9 1176 c.1012G>A c.(1012-1014)GAC>AAC p.D338N PSPH_uc003trj.2_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.D293N|CCT6A_uc011kcu.1_Missense_Mutation_p.D307N|SNORA15_uc003trn.1_5'Flank NM_001762 NP_001753 P40227 TCPZ_HUMAN chaperonin containing TCP1, subunit 6A isoform 338 'de novo' posttranslational protein folding cytosol ATP binding|unfolded protein binding upper_aerodigestive_tract(1) 1 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) TTCTTTTGACGACCTAAGTCC 0.398 SUMF2 25870 broad.mit.edu 37 7 56141892 56141892 + Frame_Shift_Del DEL A - - TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr7:56141892delA uc003trv.2 + 4 453 c.422delA c.(421-423)GAAfs p.E141fs PSPH_uc003trj.2_Intron|SUMF2_uc011kcv.1_RNA|SUMF2_uc011kcw.1_Frame_Shift_Del_p.E141fs|SUMF2_uc011kcx.1_Frame_Shift_Del_p.E141fs|SUMF2_uc003trt.2_Frame_Shift_Del_p.E34fs|SUMF2_uc011kcy.1_Intron|SUMF2_uc011kcz.1_Intron|SUMF2_uc003tru.2_RNA|SUMF2_uc011kda.1_Intron|SUMF2_uc003trx.2_Intron NM_001130069 NP_001123541 Q8NBJ7 SUMF2_HUMAN sulfatase modifying factor 2 isoform e 122 endoplasmic reticulum lumen metal ion binding ovary(1)|skin(1) 2 Breast(14;0.214) Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099) CTTCCAGTGGAAAAGGCATTT 0.562 OREG0018081 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) OCM2 4951 broad.mit.edu 37 7 97617753 97617753 + Missense_Mutation SNP C T T TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr7:97617753C>T uc003upc.2 - 2 169 c.169G>A c.(169-171)GGG>AGG p.G57R NM_006188 NP_006179 P0CE71 OCM2_HUMAN oncomodulin-like 57 EF-hand 1.|1 (Potential). calcium ion binding 0 TCCAGATACCCGCTCTGGTCG 0.537 GPC2 221914 broad.mit.edu 37 7 99773980 99773980 + Missense_Mutation SNP G A A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr7:99773980G>A uc003utv.2 - 2 343 c.175C>T c.(175-177)CTC>TTC p.L59F GPC2_uc010lgr.2_RNA|GPC2_uc003utw.1_Missense_Mutation_p.L59F|STAG3_uc010lgs.1_5'Flank|STAG3_uc003utx.1_5'Flank|STAG3_uc011kjk.1_5'Flank NM_152742 NP_689955 Q8N158 GPC2_HUMAN glypican 2 precursor 59 anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix heparan sulfate proteoglycan binding breast(1)|pancreas(1) 2 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) CAGACCCGGAGGTGCTCACCT 0.567 PILRB 29990 broad.mit.edu 37 7 99955938 99955938 + Silent SNP C T T TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr7:99955938C>T uc003uuk.2 + 15 2509 c.13C>T c.(13-15)CTG>TTG p.L5L PILRB_uc003uul.2_Silent_p.L5L|PILRB_uc003uum.1_RNA|PILRB_uc003uun.2_Silent_p.L5L NM_013440 NP_038468 Q9UKJ0 PILRB_HUMAN paired immunoglobulin-like type 2 receptor beta 5 activation of transmembrane receptor protein tyrosine kinase activity integral to plasma membrane protein binding|receptor activity 0 Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439) GGGTCGGCCCCTGCTGCTGCC 0.667 WDR86 349136 broad.mit.edu 37 7 151097266 151097266 + Silent SNP G A A TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr7:151097266G>A uc003wkb.2 - 2 674 c.225C>T c.(223-225)GCC>GCT p.A75A WDR86_uc003wka.2_Silent_p.A33A|WDR86_uc011kvk.1_Silent_p.A75A|WDR86_uc003wkc.2_5'UTR NM_198285 NP_938026 Q86TI4 WDR86_HUMAN WD repeat domain 86 75 WD 2. 0 OV - Ovarian serous cystadenocarcinoma(82;0.00419) UCEC - Uterine corpus endometrioid carcinoma (81;0.168) TGGTGCAGTCGGCGCTGCATG 0.607 PIWIL2 55124 broad.mit.edu 37 8 22211836 22211836 + Missense_Mutation SNP A G G TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr8:22211836A>G uc003xbn.2 + 22 2858 c.2710A>G c.(2710-2712)ACG>GCG p.T904A PIWIL2_uc011kzf.1_Intron|PIWIL2_uc010ltv.2_Missense_Mutation_p.T904A|PIWIL2_uc003xbo.2_Missense_Mutation_p.T58A NM_018068 NP_060538 Q8TC59 PIWL2_HUMAN piwi-like 2 904 Piwi. DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis chromatoid body|pi-body piRNA binding skin(1) 1 Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707) TGGCATTCCTACGCATTATGT 0.448 Unknown 0 broad.mit.edu 37 8 30209921 30209921 + Missense_Mutation SNP T C C TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr8:30209921T>C uc003xhz.2 + 1 403 c.398T>C c.(397-399)TTC>TCC p.F133S SubName: Full=Class IVb beta tubulin; CTGCAGGGCTTCCAGCTCACC 0.572 COL14A1 7373 broad.mit.edu 37 8 121160106 121160106 + Missense_Mutation SNP C T T TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr8:121160106C>T uc003yox.2 + 2 290 c.25C>T c.(25-27)CGG>TGG p.R9W NM_021110 NP_066933 Q05707 COEA1_HUMAN collagen, type XIV, alpha 1 precursor 9 cell-cell adhesion|collagen fibril organization collagen type XIV|extracellular space collagen binding|extracellular matrix structural constituent|protein binding, bridging ovary(4)|kidney(4)|skin(2)|pancreas(1)|central_nervous_system(1) 12 Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161) OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503) GCGCAAGATGCGGTACTGGTT 0.423 PTPRD 5789 broad.mit.edu 37 9 8341178 8341178 + Missense_Mutation SNP G C C TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr9:8341178G>C uc003zkk.2 - 40 5749 c.5038C>G c.(5038-5040)CCA>GCA p.P1680A PTPRD_uc003zkp.2_Missense_Mutation_p.P1274A|PTPRD_uc003zkq.2_Missense_Mutation_p.P1273A|PTPRD_uc003zkr.2_Missense_Mutation_p.P1264A|PTPRD_uc003zks.2_Missense_Mutation_p.P1273A|PTPRD_uc003zkl.2_Missense_Mutation_p.P1671A|PTPRD_uc003zkm.2_Missense_Mutation_p.P1667A|PTPRD_uc003zkn.2_Missense_Mutation_p.P1269A|PTPRD_uc003zko.2_Missense_Mutation_p.P1270A NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1680 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GATTCATATGGCATAATATTA 0.393 TSP Lung(15;0.13) PTPRD 5789 broad.mit.edu 37 9 8341203 8341203 + Missense_Mutation SNP G C C TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr9:8341203G>C uc003zkk.2 - 40 5724 c.5013C>G c.(5011-5013)TTC>TTG p.F1671L PTPRD_uc003zkp.2_Missense_Mutation_p.F1265L|PTPRD_uc003zkq.2_Missense_Mutation_p.F1264L|PTPRD_uc003zkr.2_Missense_Mutation_p.F1255L|PTPRD_uc003zks.2_Missense_Mutation_p.F1264L|PTPRD_uc003zkl.2_Missense_Mutation_p.F1662L|PTPRD_uc003zkm.2_Missense_Mutation_p.F1658L|PTPRD_uc003zkn.2_Missense_Mutation_p.F1260L|PTPRD_uc003zko.2_Missense_Mutation_p.F1261L NM_002839 NP_002830 P23468 PTPRD_HUMAN protein tyrosine phosphatase, receptor type, D 1671 Cytoplasmic (Potential).|Tyrosine-protein phosphatase 2. transmembrane receptor protein tyrosine phosphatase signaling pathway integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity lung(14)|large_intestine(3)|ovary(2)|breast(2)|urinary_tract(1) 22 all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824) all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119) GGCGATTTTTGAATTTATTAC 0.388 TSP Lung(15;0.13) TRAF1 7185 broad.mit.edu 37 9 123673632 123673632 + Missense_Mutation SNP C T T rs149705933 TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr9:123673632C>T uc004bku.1 - 6 1437 c.865G>A c.(865-867)GTC>ATC p.V289I TRAF1_uc011lyg.1_Missense_Mutation_p.V167I|TRAF1_uc010mvl.1_Missense_Mutation_p.V289I NM_005658 NP_005649 Q13077 TRAF1_HUMAN TNF receptor-associated factor 1 289 MATH. apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction cytoplasm protein binding|zinc ion binding p.V289I(1) skin(2)|ovary(1) 3 AAGAGGCTGACGGTCCTGCCA 0.612 SLC2A8 29988 broad.mit.edu 37 9 130165020 130165020 + Frame_Shift_Del DEL C - - TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chr9:130165020delC uc004bqu.2 + 5 756 c.711delC c.(709-711)ATCfs p.I237fs SLC2A8_uc010mxj.2_Frame_Shift_Del_p.I237fs|SLC2A8_uc004bqv.2_5'Flank NM_014580 NP_055395 Q9NY64 GTR8_HUMAN solute carrier family 2 (facilitated glucose 237 Cytoplasmic (Potential). cytoplasmic vesicle membrane|integral to plasma membrane D-glucose transmembrane transporter activity ovary(1)|haematopoietic_and_lymphoid_tissue(1) 2 ACCCCCCCATCGGGGCTGAGC 0.677 SATL1 340562 broad.mit.edu 37 X 84363108 84363108 + Silent SNP C T T TCGA-74-6573-01A-12D-1845-08 TCGA-74-6573-11A-02D-1845-08 Somatic Phase_I Capture Illumina GAIIx 0941e50e-1205-49ed-8735-1f86eaf87718 32086039-510b-4cae-908d-4a3b4cbf7eba g.chrX:84363108C>T uc011mqx.1 - 1 867 c.867G>A c.(865-867)GTG>GTA p.V289V SATL1_uc004een.2_Silent_p.V289V NM_001163541 NP_001157013 Q86VE3 SATL1_HUMAN spermidine/spermine N1-acetyl transferase-like 1 102 Gln-rich. N-acetyltransferase activity breast(2) 2 GTTTCATGTCCACTTGGTTCA 0.463