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 PRAMEF11 440560 broad.mit.edu 37 1 12885289 12885289 + Silent SNP G T T rs148273194 by1000genomes TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr1:12885289G>T uc001auk.2 - 4 1018 c.822C>A c.(820-822)CTC>CTA p.L274L NM_001146344 NP_001139816 O60813 PRA11_HUMAN PRAME family member 11 274 LRR 3. 0 GGCACTGGGAGAGATGCTTCA 0.458 KTI12 112970 broad.mit.edu 37 1 52498511 52498511 + Missense_Mutation SNP C T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr1:52498511C>T uc001ctj.1 - 1 962 c.923G>A c.(922-924)CGG>CAG p.R308Q TXNDC12_uc001cti.2_Intron NM_138417 NP_612426 Q96EK9 KTI12_HUMAN KTI12 homolog, chromatin associated 308 ATP binding central_nervous_system(2) 2 CCGGGTAAACCGCAAGTGCTC 0.552 CACHD1 57685 broad.mit.edu 37 1 65141094 65141094 + Missense_Mutation SNP C T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr1:65141094C>T uc001dbo.1 + 20 2690 c.2585C>T c.(2584-2586)ACG>ATG p.T862M CACHD1_uc001dbp.1_Missense_Mutation_p.T617M|CACHD1_uc001dbq.1_Missense_Mutation_p.T617M|CACHD1_uc010opa.1_Missense_Mutation_p.T106M NM_020925 NP_065976 Q5VU97 CAHD1_HUMAN cache domain containing 1 913 Extracellular (Potential). calcium ion transport integral to membrane ovary(2) 2 GGGGATTTGACGAACCTTGTG 0.463 OREG0013544 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) RPF1 80135 broad.mit.edu 37 1 84961638 84961638 + Nonsense_Mutation SNP C G G TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr1:84961638C>G uc001djv.3 + 7 818 c.773C>G c.(772-774)TCA>TGA p.S258* NM_025065 NP_079341 Q9H9Y2 RPF1_HUMAN RNA processing factor 1 258 Brix. rRNA processing|translation nucleolus aminoacyl-tRNA ligase activity|ATP binding|rRNA binding 0 CTGGGTCATTCAATTGGACGT 0.373 ODF2L 57489 broad.mit.edu 37 1 86851250 86851250 + Missense_Mutation SNP T A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr1:86851250T>A uc001dll.1 - 3 477 c.137A>T c.(136-138)GAA>GTA p.E46V ODF2L_uc001dlm.1_Missense_Mutation_p.E46V|ODF2L_uc001dln.2_Missense_Mutation_p.E46V|ODF2L_uc001dlo.2_Intron|ODF2L_uc001dlp.2_Missense_Mutation_p.E46V|ODF2L_uc010osg.1_Missense_Mutation_p.E46V|ODF2L_uc001dlq.1_Intron|ODF2L_uc009wcr.1_Intron NM_020729 NP_065780 Q9ULJ1 ODF2L_HUMAN outer dense fiber of sperm tails 2-like isoform 46 Potential. centrosome ovary(1) 1 all cancers(265;0.0313)|Epithelial(280;0.0611) TTCAGTCTTTTCATTTAGAAT 0.343 S100A7L2 645922 broad.mit.edu 37 1 153409549 153409549 + Silent SNP G A A rs140750285 TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr1:153409549G>A uc010pdx.1 - 3 402 c.324C>T c.(322-324)TCC>TCT p.S108S NM_001045479 NP_001038944 S100 calcium binding protein A7-like 2 ovary(1) 1 all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199) LUSC - Lung squamous cell carcinoma(543;0.171) GGCTTCCCCCGGAACAGGGTG 0.488 ZP4 57829 broad.mit.edu 37 1 238048511 238048511 + Missense_Mutation SNP A C C TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr1:238048511A>C uc001hym.2 - 9 1265 c.1265T>G c.(1264-1266)TTC>TGC p.F422C LOC100130331_uc010pyc.1_Intron NM_021186 NP_067009 Q12836 ZP4_HUMAN zona pellucida glycoprotein 4 preproprotein 422 ZP.|Extracellular (Potential). acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix acrosin binding|receptor activity ovary(2)|skin(1) 3 Ovarian(103;0.103) all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214) OV - Ovarian serous cystadenocarcinoma(106;0.00989) CACAAAGCTGAAGGTGAAGAT 0.537 OR2G6 391211 broad.mit.edu 37 1 248685273 248685273 + Missense_Mutation SNP C T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr1:248685273C>T uc001ien.1 + 1 326 c.326C>T c.(325-327)TCG>TTG p.S109L NM_001013355 NP_001013373 Q5TZ20 OR2G6_HUMAN olfactory receptor, family 2, subfamily G, 109 Helical; Name=3; (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity ovary(2)|skin(1) 3 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) all_cancers(173;0.0156) OV - Ovarian serous cystadenocarcinoma(106;0.0265) GGGTTGGGCTCGTCTGAGTGT 0.547 ZNF37A 7587 broad.mit.edu 37 10 38407548 38407548 + Missense_Mutation SNP T C C TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr10:38407548T>C uc001izk.2 + 8 2288 c.1469T>C c.(1468-1470)ATA>ACA p.I490T ZNF37A_uc001izl.2_Missense_Mutation_p.I490T|ZNF37A_uc001izm.2_Missense_Mutation_p.I490T NM_001007094 NP_001007095 P17032 ZN37A_HUMAN zinc finger protein 37a 490 nucleus DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding breast(1) 1 AGAACTCATATAAGACAGAAA 0.413 PGR 5241 broad.mit.edu 37 11 100999671 100999671 + Missense_Mutation SNP G T T rs141862537 TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr11:100999671G>T uc001pgh.2 - 1 874 c.131C>A c.(130-132)ACC>AAC p.T44N PGR_uc001pgi.2_Missense_Mutation_p.T44N|PGR_uc009yww.1_RNA|PGR_uc001pgj.2_RNA|PGR_uc009ywx.1_RNA|uc010rum.1_5'Flank NM_000926 NP_000917 P06401 PRGR_HUMAN progesterone receptor 44 Modulating, Pro-Rich. cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor cytoplasm|nucleoplasm enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding lung(1)|liver(1)|central_nervous_system(1)|pancreas(1) 4 Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014) LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164) Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396) TTCAGGCAAGGTGTCCGAGGT 0.692 COL2A1 1280 broad.mit.edu 37 12 48371798 48371798 + Nonsense_Mutation SNP G A A rs145684327 TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr12:48371798G>A uc001rqu.2 - 44 3287 c.3106C>T c.(3106-3108)CGA>TGA p.R1036* COL2A1_uc001rqt.2_5'Flank|COL2A1_uc009zkw.2_RNA|COL2A1_uc001rqv.2_Nonsense_Mutation_p.R967* NM_001844 NP_001835 P02458 CO2A1_HUMAN collagen, type II, alpha 1 isoform 1 precursor 1036 Triple-helical region. axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception collagen type II identical protein binding|platelet-derived growth factor binding ovary(1)|skin(1) 2 Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214) Collagenase(DB00048) CTCACCTCTCGTCCAGGTTCA 0.662 GLT8D2 83468 broad.mit.edu 37 12 104390580 104390580 + Missense_Mutation SNP G A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr12:104390580G>A uc001tkh.1 - 8 939 c.533C>T c.(532-534)GCG>GTG p.A178V GLT8D2_uc001tki.1_Missense_Mutation_p.A178V NM_031302 NP_112592 Q9H1C3 GL8D2_HUMAN glycosyltransferase 8 domain containing 2 178 Lumenal (Potential). integral to membrane transferase activity, transferring glycosyl groups ovary(1)|skin(1) 2 GAAAGCCGCCGCGTGGCCCAG 0.483 CUX2 23316 broad.mit.edu 37 12 111772341 111772341 + Missense_Mutation SNP G A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr12:111772341G>A uc001tsa.1 + 19 3176 c.3023G>A c.(3022-3024)AGC>AAC p.S1008N NM_015267 NP_056082 O14529 CUX2_HUMAN cut-like 2 1008 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity ovary(3)|skin(2)|breast(1) 6 TCCCTGGAGAGCAGCAAGGAG 0.647 ABCC4 10257 broad.mit.edu 37 13 95705392 95705392 + Missense_Mutation SNP A C C TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr13:95705392A>C uc001vmd.3 - 27 3532 c.3413T>G c.(3412-3414)TTT>TGT p.F1138C ABCC4_uc010afj.2_Missense_Mutation_p.F22C|ABCC4_uc010afk.2_Missense_Mutation_p.F1091C NM_005845 NP_005836 O15439 MRP4_HUMAN ATP-binding cassette, sub-family C, member 4 1138 ABC transporter 2. platelet activation|platelet degranulation integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane 15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity central_nervous_system(3)|skin(1) 4 all_neural(89;0.0878)|Medulloblastoma(90;0.163) Cefazolin(DB01327) GTGCTCATTAAAGGGATCCAG 0.373 TEP1 7011 broad.mit.edu 37 14 20846241 20846241 + Missense_Mutation SNP G A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr14:20846241G>A uc001vxe.2 - 39 5703 c.5663C>T c.(5662-5664)GCT>GTT p.A1888V TEP1_uc010ahk.2_Missense_Mutation_p.A1231V|TEP1_uc010tlf.1_RNA|TEP1_uc010tlg.1_Missense_Mutation_p.A1780V|TEP1_uc010tlh.1_Missense_Mutation_p.A226V NM_007110 NP_009041 Q99973 TEP1_HUMAN telomerase-associated protein 1 1888 WD 7. telomere maintenance via recombination chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex ATP binding|RNA binding ovary(5) 5 all_cancers(95;0.00123) all_lung(585;0.235) Epithelial(56;7.42e-08)|all cancers(55;6.46e-07) GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233) AAGCGCAGCAGCAACAAAGCC 0.632 MGAT2 4247 broad.mit.edu 37 14 50089072 50089072 + Nonsense_Mutation SNP G A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr14:50089072G>A uc001wwr.2 + 1 1584 c.1086G>A c.(1084-1086)TGG>TGA p.W362* SDCCAG1_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank NM_002408 NP_002399 Q10469 MGAT2_HUMAN mannosyl (alpha-1,6-)-glycoprotein 362 Lumenal (Potential). oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine Golgi membrane|Golgi stack|integral to membrane|membrane fraction alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity 0 all_epithelial(31;0.0021)|Breast(41;0.0124) CAAAATTCTGGAAAGTGCTGG 0.423 SFRS5 6430 broad.mit.edu 37 14 70237710 70237710 + Splice_Site SNP A T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr14:70237710A>T uc001xll.2 + 8 1892 c.441_splice c.e8-2 p.G147_splice SFRS5_uc001xlm.2_Splice_Site|SFRS5_uc001xlo.2_Splice_Site_p.G147_splice|SFRS5_uc001xlp.2_Splice_Site_p.G147_splice|SFRS5_uc001xlq.2_Splice_Site_p.G144_splice NM_006925 NP_008856 Q13243 SRSF5_HUMAN splicing factor, arginine/serine-rich 5 mRNA 3'-end processing|mRNA export from nucleus|mRNA splice site selection|termination of RNA polymerase II transcription nuclear speck nucleotide binding|protein binding|RNA binding 0 all cancers(60;0.00144)|BRCA - Breast invasive adenocarcinoma(234;0.0132)|OV - Ovarian serous cystadenocarcinoma(108;0.0154) TTTCCATTTTAGGGTGGTTGA 0.348 UBR1 197131 broad.mit.edu 37 15 43269028 43269028 + Missense_Mutation SNP T A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr15:43269028T>A uc001zqq.2 - 39 4322 c.4256A>T c.(4255-4257)GAT>GTT p.D1419V NM_174916 NP_777576 Q8IWV7 UBR1_HUMAN ubiquitin protein ligase E3 component n-recognin 1419 cellular response to leucine|negative regulation of TOR signaling cascade cytosol leucine binding|zinc ion binding lung(1) 1 all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214) AACAGGGTCATCCCAATACAA 0.388 EDC3 80153 broad.mit.edu 37 15 74925078 74925078 + Missense_Mutation SNP C A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr15:74925078C>A uc002ayn.2 - 10 1890 c.1402G>T c.(1402-1404)GGG>TGG p.G468W EDC3_uc002ayo.2_Missense_Mutation_p.G468W|EDC3_uc002aym.2_Missense_Mutation_p.G468W NM_001142443 NP_001135915 Q96F86 EDC3_HUMAN enhancer of mRNA decapping 3 468 YjeF N-terminal. exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay cytoplasmic mRNA processing body|cytosol protein binding|RNA binding ovary(1) 1 GCGTGCTCCCCCAGTGGCAGA 0.577 OREG0023286 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) CSPG4 1464 broad.mit.edu 37 15 75980829 75980829 + Nonsense_Mutation SNP A C C TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr15:75980829A>C uc002baw.2 - 3 2670 c.2577T>G c.(2575-2577)TAT>TAG p.Y859* NM_001897 NP_001888 Q6UVK1 CSPG4_HUMAN chondroitin sulfate proteoglycan 4 precursor 859 CSPG 4.|Extracellular (Potential).|Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity). angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane protein kinase binding|signal transducer activity ovary(2)|pancreas(1) 3 CTGTGGCCCCATAGGTCACCC 0.577 C15orf42 90381 broad.mit.edu 37 15 90142688 90142688 + Silent SNP A G G TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr15:90142688A>G uc002boe.2 + 8 2034 c.2034A>G c.(2032-2034)AAA>AAG p.K678K NM_152259 NP_689472 Q7Z2Z1 TICRR_HUMAN leucine-rich repeat kinase 1 678 cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation nucleus chromatin binding|protein binding ovary(4)|central_nervous_system(2)|skin(1) 7 Lung NSC(78;0.0237)|all_lung(78;0.0478) BRCA - Breast invasive adenocarcinoma(143;0.128) TAAAATCAAAAGGCACCAAGG 0.358 SPG7 6687 broad.mit.edu 37 16 89598461 89598461 + Silent SNP G A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr16:89598461G>A uc002fnj.2 + 8 1158 c.1137G>A c.(1135-1137)GTG>GTA p.V379V SPG7_uc002fni.2_Silent_p.V379V NM_003119 NP_003110 Q9UQ90 SPG7_HUMAN spastic paraplegia 7 isoform 1 379 Mitochondrial matrix (Potential). cell death|nervous system development|protein catabolic process|proteolysis integral to membrane|mitochondrial membrane ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding 0 all_hematologic(23;0.00824)|Colorectal(91;0.102) all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015) CAGAGTTCGTGGAGGTCATTG 0.647 CCL2 6347 broad.mit.edu 37 17 32583358 32583358 + Missense_Mutation SNP T A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr17:32583358T>A uc002hhy.2 + 2 267 c.194T>A c.(193-195)ATC>AAC p.I65N NM_002982 NP_002973 P13500 CCL2_HUMAN small inducible cytokine A2 precursor 65 Missing: 90% reduction in activity.|Missing: 83% reduction in activity. angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication extracellular space CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity pancreas(1) 1 Breast(3;0.00224) Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153) UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103) Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641) GAAGCTGTGATGTGAGTTCAG 0.478 TNS4 84951 broad.mit.edu 37 17 38641225 38641225 + Silent SNP G A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr17:38641225G>A uc010cxb.2 - 5 1487 c.1323C>T c.(1321-1323)TTC>TTT p.F441F NM_032865 NP_116254 Q8IZW8 TENS4_HUMAN tensin 4 precursor 441 apoptosis|protein localization cytoplasm|cytoskeleton|focal adhesion actin binding large_intestine(1)|ovary(1)|central_nervous_system(1)|skin(1) 4 Breast(137;0.000496) STAD - Stomach adenocarcinoma(5;5.91e-05) TGTCCATCACGAACTTCATGG 0.547 KRT39 390792 broad.mit.edu 37 17 39116597 39116597 + Missense_Mutation SNP C T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr17:39116597C>T uc002hvo.1 - 6 1189 c.1153G>A c.(1153-1155)GTC>ATC p.V385I KRT39_uc010wfm.1_Missense_Mutation_p.V118I NM_213656 NP_998821 Q6A163 K1C39_HUMAN type I hair keratin KA35 385 Coil 2.|Rod. intermediate filament structural molecule activity 0 Breast(137;0.00043)|Ovarian(249;0.15) CGGGACTTGACGTCCAGCAGG 0.493 KRTAP4-11 653240 broad.mit.edu 37 17 39274291 39274291 + Missense_Mutation SNP T C C rs149439944 by1000genomes TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr17:39274291T>C uc002hvz.2 - 1 316 c.277A>G c.(277-279)ATG>GTG p.M93V NM_033059 NP_149048 Q9BYQ6 KR411_HUMAN keratin associated protein 4-11 93 14.|27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC]. keratin filament 0 Breast(137;0.000496) STAD - Stomach adenocarcinoma(17;0.000371) TGGCAGCACATAGACTGGCAG 0.388 SGCA 6442 broad.mit.edu 37 17 48246591 48246591 + Silent SNP C T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr17:48246591C>T uc002iqi.2 + 6 759 c.723C>T c.(721-723)CGC>CGT p.R241R SGCA_uc010wmh.1_Silent_p.R139R|SGCA_uc002iqj.2_Intron|SGCA_uc010wmi.1_RNA|uc010dbn.1_5'Flank NM_000023 NP_000014 Q16586 SGCA_HUMAN sarcoglycan, alpha isoform 1 precursor 241 Extracellular (Potential). muscle contraction|muscle organ development cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma calcium ion binding ovary(2) 2 CCCACTTCCGCGTTGACTGGT 0.662 OREG0024558 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) EPX 8288 broad.mit.edu 37 17 56277732 56277732 + Nonsense_Mutation SNP C T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr17:56277732C>T uc002ivq.2 + 10 1770 c.1684C>T c.(1684-1686)CGA>TGA p.R562* NM_000502 NP_000493 P11678 PERE_HUMAN eosinophil peroxidase preproprotein 562 hydrogen peroxide catabolic process heme binding|peroxidase activity|protein binding ovary(2) 2 CAACATGCAACGAAGCCGGGA 0.617 OREG0024608 type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip) ENPP7 339221 broad.mit.edu 37 17 77711814 77711814 + Missense_Mutation SNP G A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr17:77711814G>A uc002jxa.2 + 5 1366 c.1346G>A c.(1345-1347)GGG>GAG p.G449E NM_178543 NP_848638 Q6UWV6 ENPP7_HUMAN ectonucleotide pyrophosphatase/phosphodiesterase 449 Helical; (Potential). negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process Golgi apparatus|integral to membrane|microvillus sphingomyelin phosphodiesterase activity central_nervous_system(2)|ovary(1) 3 OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224) GGACTGCTGGGGACCGTGATT 0.632 LAMA1 284217 broad.mit.edu 37 18 6977852 6977852 + Silent SNP G A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr18:6977852G>A uc002knm.2 - 44 6313 c.6219C>T c.(6217-6219)GAC>GAT p.D2073D LAMA1_uc010wzj.1_Silent_p.D1549D NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 2073 Domain II and I. axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development extracellular space|laminin-1 complex|laminin-3 complex extracellular matrix structural constituent|receptor binding ovary(8)|large_intestine(4)|upper_aerodigestive_tract(2)|breast(2)|skin(2)|pancreas(2)|central_nervous_system(1) 21 Colorectal(10;0.172) Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031) GAATTTCCACGTCTTTGACTT 0.398 POTEC 388468 broad.mit.edu 37 18 14542921 14542921 + Silent SNP G A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr18:14542921G>A uc010dln.2 - 1 679 c.225C>T c.(223-225)AGC>AGT p.S75S POTEC_uc010xaj.1_RNA NM_001137671 NP_001131143 B2RU33 POTEC_HUMAN ANKRD26-like family B, member 2 75 skin(3) 3 TGCTCGTGCCGCTCCCCCTGC 0.567 SERPINB11 89778 broad.mit.edu 37 18 61387390 61387390 + Splice_Site SNP G A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr18:61387390G>A uc002ljk.3 + 7 680 c.618_splice c.e7+1 p.E206_splice SERPINB11_uc010xes.1_Splice_Site_p.E31_splice|SERPINB11_uc010dqd.2_Splice_Site_p.E92_splice|SERPINB11_uc002ljj.3_Splice_Site_p.E92_splice|SERPINB11_uc010dqe.2_Intron|SERPINB11_uc010dqf.2_Intron NM_080475 NP_536723 Q96P15 SPB11_HUMAN serpin peptidase inhibitor, clade B, member 11 regulation of proteolysis cytoplasm serine-type endopeptidase inhibitor activity breast(1) 1 Esophageal squamous(42;0.129) GCTAAGTGAGGTAAGTATTTT 0.313 PTPRS 5802 broad.mit.edu 37 19 5273496 5273496 + Silent SNP C T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr19:5273496C>T uc002mbv.2 - 4 570 c.336G>A c.(334-336)TCG>TCA p.S112S PTPRS_uc002mbu.1_Silent_p.S112S|PTPRS_uc010xin.1_Silent_p.S112S|PTPRS_uc002mbw.2_Silent_p.S112S|PTPRS_uc002mbx.2_Silent_p.S112S|PTPRS_uc002mby.2_Silent_p.S112S|PTPRS_uc002mbz.1_Silent_p.S112S NM_002850 NP_002841 Q13332 PTPRS_HUMAN protein tyrosine phosphatase, receptor type, 112 Ig-like C2-type 1.|Extracellular (Potential). cell adhesion integral to plasma membrane protein binding|transmembrane receptor protein tyrosine phosphatase activity large_intestine(2)|ovary(1)|central_nervous_system(1) 4 UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182) TCTCCCCAACCGAGTTCTGGG 0.587 KRTDAP 388533 broad.mit.edu 37 19 35979579 35979579 + Silent SNP G A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr19:35979579G>A uc002nzh.2 - 3 165 c.153C>T c.(151-153)ATC>ATT p.I51I NM_207392 NP_997275 P60985 KTDAP_HUMAN keratinocyte differentiation-associated protein 51 cell differentiation extracellular region 0 all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0724) GCAATTTGTCGATGTTCAGGA 0.512 SIPA1L3 23094 broad.mit.edu 37 19 38621245 38621245 + Silent SNP C T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr19:38621245C>T uc002ohk.2 + 10 3485 c.2976C>T c.(2974-2976)GAC>GAT p.D992D NM_015073 NP_055888 O60292 SI1L3_HUMAN signal-induced proliferation-associated 1 like 992 PDZ. regulation of small GTPase mediated signal transduction intracellular GTPase activator activity ovary(1)|central_nervous_system(1) 2 Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292) AGGTTGAGGACTATGGGTTCG 0.662 LTBP4 8425 broad.mit.edu 37 19 41133127 41133127 + Silent SNP C T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr19:41133127C>T uc002ooh.1 + 32 4434 c.4434C>T c.(4432-4434)GAC>GAT p.D1478D LTBP4_uc002oog.1_Silent_p.D1441D|LTBP4_uc002ooi.1_Silent_p.D1411D|LTBP4_uc002ooj.1_Silent_p.D351D|LTBP4_uc002ook.1_Silent_p.D612D|LTBP4_uc002ool.1_Silent_p.D490D|LTBP4_uc010xvp.1_Silent_p.D238D NM_001042544 NP_001036009 Q8N2S1 LTBP4_HUMAN latent transforming growth factor beta binding 1478 Pro-rich. growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway extracellular space|proteinaceous extracellular matrix calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity central_nervous_system(1) 1 Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384) ACTTTGAGGACGATGGTGGCC 0.701 CEACAM3 1084 broad.mit.edu 37 19 42301582 42301582 + Silent SNP G A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr19:42301582G>A uc002orn.1 + 2 202 c.126G>A c.(124-126)CCG>CCA p.P42P CEACAM3_uc010eia.1_Silent_p.P42P|CEACAM3_uc002oro.1_RNA NM_001815 NP_001806 P40198 CEAM3_HUMAN carcinoembryonic antigen-related cell adhesion 42 Ig-like V-type.|Extracellular (Potential). integral to membrane skin(1) 1 AATCCATGCCGCTCAGTGTCG 0.522 PSG1 5669 broad.mit.edu 37 19 43383725 43383725 + Silent SNP G T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr19:43383725G>T uc002ovb.2 - 1 147 c.9C>A c.(7-9)ACC>ACA p.T3T PSG3_uc002ouf.2_Intron|PSG1_uc002oug.1_Silent_p.T3T|PSG11_uc002ouw.2_Intron|PSG7_uc002ous.1_Intron|PSG7_uc002out.1_Intron|PSG10_uc002ouv.1_Intron|PSG1_uc002oun.2_RNA|PSG1_uc002our.1_Silent_p.T3T|PSG1_uc010eio.1_Silent_p.T3T|PSG1_uc002oux.1_5'Flank|PSG1_uc002ouy.1_Silent_p.T3T|PSG1_uc002ouz.1_Silent_p.T3T|PSG1_uc002ova.1_Silent_p.T3T|PSG1_uc002ovc.2_Silent_p.T3T|PSG1_uc002ovd.1_Silent_p.T3T NM_006905 NP_008836 P11464 PSG1_HUMAN pregnancy specific beta-1-glycoprotein 1 3 female pregnancy extracellular region ovary(2) 2 Prostate(69;0.00682) GGGCTGAGAGGGTTCCCATGG 0.572 TTC15 51112 broad.mit.edu 37 2 3392072 3392072 + Silent SNP C T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr2:3392072C>T uc002qxm.1 + 2 884 c.678C>T c.(676-678)TCC>TCT p.S226S TTC15_uc002qxn.1_Silent_p.S226S|TTC15_uc010ewm.1_Silent_p.S226S|TTC15_uc002qxl.1_Silent_p.S226S NM_016030 NP_057114 Q8WVT3 TTC15_HUMAN tetratricopeptide repeat domain 15 226 binding ovary(2)|breast(1)|pancreas(1) 4 Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093) all_cancers(51;0.214) OV - Ovarian serous cystadenocarcinoma(76;0.0402)|Epithelial(75;0.0986)|all cancers(51;0.149) TCTTCGACTCCTTTACTACCT 0.547 MAP4K4 9448 broad.mit.edu 37 2 102440436 102440436 + Missense_Mutation SNP A T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr2:102440436A>T uc002tbg.2 + 4 282 c.227A>T c.(226-228)TAC>TTC p.Y76F MAP4K4_uc002tbc.2_Missense_Mutation_p.Y76F|MAP4K4_uc002tbd.2_Missense_Mutation_p.Y76F|MAP4K4_uc002tbe.2_Missense_Mutation_p.Y76F|MAP4K4_uc002tbf.2_Missense_Mutation_p.Y76F|MAP4K4_uc010yvy.1_Missense_Mutation_p.Y76F|MAP4K4_uc002tbh.2_Missense_Mutation_p.Y76F|MAP4K4_uc002tbi.2_Missense_Mutation_p.Y76F|MAP4K4_uc010yvz.1_Missense_Mutation_p.Y56F|MAP4K4_uc010fiw.1_Intron|MAP4K4_uc002tbj.1_5'Flank NM_145687 NP_663720 O95819 M4K4_HUMAN mitogen-activated protein kinase kinase kinase 76 Protein kinase. intracellular protein kinase cascade|regulation of JNK cascade|response to stress cytoplasm ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity stomach(1)|lung(1)|central_nervous_system(1)|skin(1) 4 CTAAAGAAATACTCTCATCAC 0.368 ST6GAL2 84620 broad.mit.edu 37 2 107460197 107460197 + Silent SNP C T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr2:107460197C>T uc002tdq.2 - 2 356 c.237G>A c.(235-237)GCG>GCA p.A79A ST6GAL2_uc002tdr.2_Silent_p.A79A|ST6GAL2_uc002tds.3_Silent_p.A79A NM_001142351 NP_001135823 Q96JF0 SIAT2_HUMAN ST6 beta-galactosamide 79 Lumenal (Potential). growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation Golgi cisterna membrane|integral to Golgi membrane beta-galactoside alpha-2,6-sialyltransferase activity p.A79V(1) pancreas(6)|ovary(4)|skin(1) 11 CGCGGGGCAGCGCCTGGCGTG 0.657 GPR149 344758 broad.mit.edu 37 3 154139085 154139085 + Missense_Mutation SNP T C C TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr3:154139085T>C uc003faa.2 - 3 1466 c.1366A>G c.(1366-1368)ATC>GTC p.I456V NM_001038705 NP_001033794 Q86SP6 GP149_HUMAN G protein-coupled receptor 149 456 Cytoplasmic (Potential). integral to membrane|plasma membrane G-protein coupled receptor activity ovary(6) 6 LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173) GTGGTGCTGATTTCTACTTTT 0.393 SI 6476 broad.mit.edu 37 3 164716358 164716358 + Nonsense_Mutation SNP G A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr3:164716358G>A uc003fei.2 - 38 4572 c.4510C>T c.(4510-4512)CGA>TGA p.R1504* NM_001041 NP_001032 P14410 SUIS_HUMAN sucrase-isomaltase 1504 Sucrase.|Lumenal. carbohydrate metabolic process|polysaccharide digestion apical plasma membrane|brush border|Golgi apparatus|integral to membrane carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity ovary(7)|upper_aerodigestive_tract(4)|skin(2)|pancreas(1) 14 Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199) Acarbose(DB00284) TTGTCCCATCGTGCATAGTTG 0.403 HNSCC(35;0.089) TNIK 23043 broad.mit.edu 37 3 170800078 170800078 + Missense_Mutation SNP T G G TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr3:170800078T>G uc003fhh.2 - 27 3620 c.3275A>C c.(3274-3276)GAT>GCT p.D1092A TNIK_uc003fhi.2_Missense_Mutation_p.D1037A|TNIK_uc003fhj.2_Missense_Mutation_p.D1063A|TNIK_uc003fhk.2_Missense_Mutation_p.D1084A|TNIK_uc003fhl.2_Missense_Mutation_p.D1008A|TNIK_uc003fhm.2_Missense_Mutation_p.D1029A|TNIK_uc003fhn.2_Missense_Mutation_p.D1055A|TNIK_uc003fho.2_Missense_Mutation_p.D1000A|TNIK_uc003fhg.2_Missense_Mutation_p.D270A|TNIK_uc003fhp.2_Missense_Mutation_p.D24A NM_015028 NP_055843 Q9UKE5 TNIK_HUMAN TRAF2 and NCK interacting kinase isoform 1 1092 CNH. actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway cytoskeleton|nucleus|recycling endosome ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity ovary(4)|large_intestine(1) 5 all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122) LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14) CTCTAGCACATCCATCTGCTG 0.483 FYB 2533 broad.mit.edu 37 5 39153687 39153687 + Silent SNP C T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr5:39153687C>T uc003jls.2 - 2 1222 c.1155G>A c.(1153-1155)ACG>ACA p.T385T FYB_uc003jlt.2_Silent_p.T385T|FYB_uc003jlu.2_Silent_p.T385T|FYB_uc011cpl.1_Silent_p.T395T NM_199335 NP_955367 O15117 FYB_HUMAN FYN binding protein (FYB-120/130) isoform 2 385 Interaction with SKAP1. cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway cytosol|nucleus protein binding ovary(2) 2 all_lung(31;0.000343) Epithelial(62;0.235) TTGAGTAAGACGTCTGGCCTT 0.423 IQGAP2 10788 broad.mit.edu 37 5 75998408 75998408 + Missense_Mutation SNP A G G TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr5:75998408A>G uc003kek.2 + 35 4829 c.4607A>G c.(4606-4608)AAT>AGT p.N1536S IQGAP2_uc011csv.1_Missense_Mutation_p.N1032S|IQGAP2_uc003kel.2_Missense_Mutation_p.N1032S NM_006633 NP_006624 Q13576 IQGA2_HUMAN IQ motif containing GTPase activating protein 2 1536 small GTPase mediated signal transduction actin cytoskeleton actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity ovary(6)|central_nervous_system(1) 7 all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149) all cancers(79;1.38e-36) GTGCAACTCAATATTCAGGTA 0.353 CEP120 153241 broad.mit.edu 37 5 122754205 122754205 + Silent SNP C T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr5:122754205C>T uc003ktk.2 - 3 136 c.54G>A c.(52-54)CGG>CGA p.R18R CEP120_uc011cwq.1_5'UTR|CEP120_uc010jcz.1_5'UTR NM_153223 NP_694955 Q8N960 CE120_HUMAN coiled-coil domain containing 100 18 centrosome ovary(1) 1 TGGGGAAATGCCGACCTGGAG 0.353 DSP 1832 broad.mit.edu 37 6 7565623 7565623 + Missense_Mutation SNP G A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr6:7565623G>A uc003mxp.1 + 7 1088 c.809G>A c.(808-810)CGA>CAA p.R270Q DSP_uc003mxq.1_Missense_Mutation_p.R270Q NM_004415 NP_004406 P15924 DESP_HUMAN desmoplakin isoform I 270 Globular 1.|Interacts with plakophilin 1 and junction plakoglobin. cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking cornified envelope|cytoplasm|desmosome protein binding, bridging|structural constituent of cytoskeleton central_nervous_system(6)|ovary(2)|skin(1) 9 Ovarian(93;0.0584) all_hematologic(90;0.236) OV - Ovarian serous cystadenocarcinoma(45;0.000508) GATCACCTGCGACAGCTGCAG 0.502 DNAH8 1769 broad.mit.edu 37 6 38957817 38957817 + Silent SNP G A A rs143472136 byFrequency TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr6:38957817G>A uc003ooe.1 + 86 13032 c.12432G>A c.(12430-12432)CCG>CCA p.P4144P NM_001371 NP_001362 dynein, axonemal, heavy polypeptide 8 skin(8)|ovary(7)|lung(2)|large_intestine(1)|central_nervous_system(1)|kidney(1)|pancreas(1) 21 TGTTTGAACCGTCATTCTGCT 0.368 GSTA1 2938 broad.mit.edu 37 6 52658945 52658945 + Missense_Mutation SNP C T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr6:52658945C>T uc003paz.2 - 5 504 c.392G>A c.(391-393)CGC>CAC p.R131H NM_145740 NP_665683 P08263 GSTA1_HUMAN glutathione S-transferase alpha 1 131 GST C-terminal. glutathione metabolic process|xenobiotic metabolic process cytosol glutathione transferase activity ovary(1) 1 Lung NSC(77;0.118) Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143) AGGGAAGTAGCGATTTTTTAT 0.438 AKD1 221264 broad.mit.edu 37 6 109827537 109827537 + Missense_Mutation SNP T C C TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr6:109827537T>C uc003ptn.2 - 35 4919 c.4842A>G c.(4840-4842)ATA>ATG p.I1614M AKD1_uc011eas.1_Missense_Mutation_p.I13M NM_001145128 NP_001138600 Q5TCS8 AKD1_HUMAN adenylate kinase domain containing 1 isoform 1 1614 nucleobase, nucleoside, nucleotide and nucleic acid metabolic process ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity ovary(1) 1 TACCTGCTTTTATTCTTTCCA 0.323 MIOS 54468 broad.mit.edu 37 7 7612689 7612689 + Nonsense_Mutation SNP C T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr7:7612689C>T uc003srf.2 + 4 891 c.583C>T c.(583-585)CGA>TGA p.R195* MIOS_uc010ktp.1_Nonsense_Mutation_p.R195* NM_019005 NP_061878 Q9NXC5 MIO_HUMAN missing oocyte, meiosis regulator, homolog 195 WD 3. 0 TTGGCTTCCACGAGACCAGAA 0.383 ABCA13 154664 broad.mit.edu 37 7 48450229 48450229 + Silent SNP G T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr7:48450229G>T uc003toq.2 + 40 12208 c.12183G>T c.(12181-12183)CTG>CTT p.L4061L ABCA13_uc010kys.1_Silent_p.L1135L|ABCA13_uc010kyt.1_RNA NM_152701 NP_689914 Q86UQ4 ABCAD_HUMAN ATP binding cassette, sub-family A (ABC1), 4061 ABC transporter 1. transport integral to membrane ATP binding|ATPase activity ovary(5)|central_nervous_system(4)|skin(1) 10 CCTTCTGCCTGAAGGAGGCAT 0.582 POM121L12 285877 broad.mit.edu 37 7 53104048 53104048 + Silent SNP C A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr7:53104048C>A uc003tpz.2 + 1 700 c.684C>A c.(682-684)TCC>TCA p.S228S NM_182595 NP_872401 Q8N7R1 P1L12_HUMAN POM121 membrane glycoprotein-like 12 228 0 CGGTTGCTTCCTTCGTGCCCA 0.637 NSUN5 55695 broad.mit.edu 37 7 72717906 72717906 + Silent SNP G A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr7:72717906G>A uc003txw.2 - 8 1098 c.1062C>T c.(1060-1062)CTC>CTT p.L354L FKBP6_uc003twz.2_Intron|NSUN5_uc003txv.2_Silent_p.L354L|NSUN5_uc003txx.2_Silent_p.L316L|NSUN5_uc011kev.1_Silent_p.L354L NM_018044 NP_060514 Q96P11 NSUN5_HUMAN NOL1/NOP2/Sun domain family, member 5 isoform 2 354 methyltransferase activity 0 Lung NSC(55;0.163) TGGAGTAGACGAGCCGCTGCA 0.677 EPHB6 2051 broad.mit.edu 37 7 142566033 142566033 + Silent SNP C T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr7:142566033C>T uc011kst.1 + 14 2740 c.1953C>T c.(1951-1953)TAC>TAT p.Y651Y EPHB6_uc011ksu.1_Silent_p.Y651Y|EPHB6_uc003wbs.2_Silent_p.Y359Y|EPHB6_uc003wbt.2_Silent_p.Y125Y|EPHB6_uc003wbu.2_Silent_p.Y359Y|EPHB6_uc003wbv.2_Silent_p.Y35Y NM_004445 NP_004436 O15197 EPHB6_HUMAN ephrin receptor EphB6 precursor 651 Cytoplasmic (Potential). extracellular region|integral to plasma membrane ATP binding|ephrin receptor activity lung(8)|large_intestine(4)|central_nervous_system(3)|stomach(1)|skin(1)|ovary(1)|pancreas(1) 19 Melanoma(164;0.059) CCTCCACCTACGAGGACCCCT 0.577 FAM110B 90362 broad.mit.edu 37 8 59059474 59059474 + Missense_Mutation SNP A C C rs139483735 TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr8:59059474A>C uc003xtj.1 + 5 1565 c.685A>C c.(685-687)AAA>CAA p.K229Q NM_147189 NP_671722 Q8TC76 F110B_HUMAN hypothetical protein LOC90362 229 microtubule organizing center|mitochondrion|nucleus large_intestine(1) 1 all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355) TCCCAAGCCCAAAATCGCAGC 0.632 MYBL1 4603 broad.mit.edu 37 8 67507922 67507922 + Nonsense_Mutation SNP G A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr8:67507922G>A uc003xwj.2 - 6 990 c.583C>T c.(583-585)CAA>TAA p.Q195* MYBL1_uc003xwl.2_Nonsense_Mutation_p.Q195*|MYBL1_uc003xwk.2_Nonsense_Mutation_p.Q195* NM_001080416 NP_001073885 P10243 MYBA_HUMAN v-myb myeloblastosis viral oncogene homolog 195 positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding ovary(2)|pancreas(1) 3 Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938) ATTCCATCTTGTAAATAGCCC 0.343 NOL8 55035 broad.mit.edu 37 9 95077750 95077750 + Missense_Mutation SNP G A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr9:95077750G>A uc004arv.2 - 7 1494 c.1157C>T c.(1156-1158)GCG>GTG p.A386V NOL8_uc010mqw.2_RNA|NOL8_uc004arw.2_Intron|NOL8_uc011ltw.1_Missense_Mutation_p.A318V NM_017948 NP_060418 Q76FK4 NOL8_HUMAN nucleolar protein 8 386 DNA replication|positive regulation of cell growth nucleolus nucleotide binding|protein binding|RNA binding ovary(1) 1 TTTTTTCATCGCAATAATTTC 0.323 PALM2-AKAP2 445815 broad.mit.edu 37 9 112687347 112687347 + Missense_Mutation SNP T C C TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr9:112687347T>C uc004bei.2 + 5 571 c.379T>C c.(379-381)TCC>CCC p.S127P PALM2_uc004bef.2_Missense_Mutation_p.S129P|PALM2_uc004beg.2_Missense_Mutation_p.S129P|PALM2_uc004beh.3_Missense_Mutation_p.S127P|PALM2-AKAP2_uc004bek.3_Missense_Mutation_p.S127P|PALM2-AKAP2_uc004bej.3_Missense_Mutation_p.S127P|PALM2-AKAP2_uc004bel.1_5'UTR NM_001136562 NP_001130034 Q9Y2D5 AKAP2_HUMAN A kinase (PRKA) anchor protein 2 isoform 2 Error:Variant_position_missing_in_Q9Y2D5_after_alignment enzyme binding p.S127Y(1) ovary(3)|central_nervous_system(2)|skin(1) 6 ACAGGGTTTCTCCAGTACGGA 0.463 CEL 1056 broad.mit.edu 37 9 135945919 135945919 + Missense_Mutation SNP C T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chr9:135945919C>T uc010naa.1 + 10 1383 c.1367C>T c.(1366-1368)GCC>GTC p.A456V NM_001807 NP_001798 P19835 CEL_HUMAN carboxyl ester lipase precursor 453 cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification cytosol|extracellular space acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity pancreas(1) 1 OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196) TGGGTGGGGGCCGACCATGCA 0.607 MAP7D2 256714 broad.mit.edu 37 X 20074865 20074865 + Silent SNP C T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chrX:20074865C>T uc004czr.1 - 4 436 c.417G>A c.(415-417)CAG>CAA p.Q139Q MAP7D2_uc004czq.1_Silent_p.Q10Q|MAP7D2_uc011mji.1_Silent_p.Q95Q|MAP7D2_uc010nfo.1_Silent_p.Q139Q|MAP7D2_uc011mjj.1_Silent_p.Q139Q|MAP7D2_uc004czs.1_Silent_p.Q95Q NM_152780 NP_689993 Q96T17 MA7D2_HUMAN MAP7 domain containing 2 139 Potential. ovary(2)|breast(1) 3 GCTCCAGCTGCTGTGTGCGCT 0.557 BCOR 54880 broad.mit.edu 37 X 39933293 39933293 + Missense_Mutation SNP C T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chrX:39933293C>T uc004den.3 - 4 1598 c.1306G>A c.(1306-1308)GTC>ATC p.V436I BCOR_uc004dep.3_Missense_Mutation_p.V436I|BCOR_uc004deo.3_Missense_Mutation_p.V436I|BCOR_uc004dem.3_Missense_Mutation_p.V436I|BCOR_uc004deq.3_Missense_Mutation_p.V436I NM_001123385 NP_001116857 Q6W2J9 BCOR_HUMAN BCL-6 interacting corepressor isoform c 436 heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent nucleus heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding ovary(2)|kidney(1)|central_nervous_system(1) 4 TTATCTGTGACGTCTTTGGTA 0.527 ITIH5L 347365 broad.mit.edu 37 X 54783873 54783873 + Missense_Mutation SNP G T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chrX:54783873G>T uc004dtj.2 - 8 2664 c.2634C>A c.(2632-2634)AAC>AAA p.N878K NM_198510 NP_940912 Q6UXX5 ITH5L_HUMAN inter-alpha (globulin) inhibitor H5-like 878 Pro-rich. hyaluronan metabolic process extracellular region serine-type endopeptidase inhibitor activity lung(2)|skin(2)|ovary(1)|breast(1) 6 GCATATGGGGGTTTGGGGTCT 0.483 ZXDA 7789 broad.mit.edu 37 X 57935325 57935325 + Silent SNP G A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chrX:57935325G>A uc004dve.2 - 1 1743 c.1530C>T c.(1528-1530)TTC>TTT p.F510F NM_007156 NP_009087 P98168 ZXDA_HUMAN zinc finger, X-linked, duplicated A 510 Required for interaction with ZXDC.|C2H2-type 9. positive regulation of transcription, DNA-dependent nucleus C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding ovary(1) 1 CAGGACACACGAAAGGCTTTG 0.552 MAGT1 84061 broad.mit.edu 37 X 77112989 77112989 + Missense_Mutation SNP G T T TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chrX:77112989G>T uc004fof.2 - 4 554 c.492C>A c.(490-492)AAC>AAA p.N164K MAGT1_uc004fog.3_RNA NM_032121 NP_115497 Q9H0U3 MAGT1_HUMAN magnesium transporter 1 132 protein N-linked glycosylation via asparagine integral to membrane|oligosaccharyltransferase complex upper_aerodigestive_tract(1) 1 CTGAATTCATGTTTAGCTGAA 0.338 RHOXF1 158800 broad.mit.edu 37 X 119243159 119243159 + Silent SNP G A A rs145568775 TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chrX:119243159G>A uc004esk.1 - 3 621 c.546C>T c.(544-546)GTC>GTT p.V182V uc004esi.1_Intron NM_139282 NP_644811 Q8NHV9 RHXF1_HUMAN Rhox homeobox family, member 1 182 gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 GCTAGTCCACGACGATGTAGA 0.507 RAP2C 57826 broad.mit.edu 37 X 131348336 131348336 + Missense_Mutation SNP A C C TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chrX:131348336A>C uc004ewp.2 - 3 1196 c.412T>G c.(412-414)TGG>GGG p.W138G RAP2C_uc004ewo.2_Missense_Mutation_p.W72G|RAP2C_uc010nrk.2_RNA|RAP2C_uc004ewq.3_Missense_Mutation_p.W138G NM_021183 NP_067006 Q9Y3L5 RAP2C_HUMAN RAP2C, member of RAS oncogene family precursor 138 negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity recycling endosome membrane GTP binding|GTPase activity ovary(1) 1 Acute lymphoblastic leukemia(192;0.000127) GGACAGCCCCATTCTTGAGCC 0.438 F9 2158 broad.mit.edu 37 X 138643011 138643011 + Missense_Mutation SNP G A A rs137852247 TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chrX:138643011G>A uc004fas.1 + 7 864 c.835G>A c.(835-837)GCA>ACA p.A279T F9_uc004fat.1_Missense_Mutation_p.A241T NM_000133 NP_000124 P00740 FA9_HUMAN coagulation factor IX preproprotein 279 Peptidase S1. A -> T (in HEMB; mild). blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane calcium ion binding|serine-type endopeptidase activity lung(2)|ovary(1) 3 Acute lymphoblastic leukemia(192;0.000127) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170) TACAGTTGTCGCAGGTAAATA 0.353 FATE1 89885 broad.mit.edu 37 X 150891145 150891145 + Missense_Mutation SNP G A A TCGA-87-5896-01A-01D-1696-08 TCGA-87-5896-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 640c33a6-a7df-4dba-9c21-367a9a839f0f 6de80c2c-8a7e-4ec4-9efa-9d43c101306b g.chrX:150891145G>A uc004fex.2 + 5 550 c.466G>A c.(466-468)GCC>ACC p.A156T NM_033085 NP_149076 Q969F0 FATE1_HUMAN fetal and adult testis expressed transcript 156 endoplasmic reticulum|integral to membrane ovary(1) 1 Acute lymphoblastic leukemia(192;6.56e-05) GGAACAGGGCGCCACCTGGCG 0.652