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 HSP90B3P 343477 broad.mit.edu 37 1 92108899 92108899 + Missense_Mutation SNP C T T rs2493202 by1000genomes TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr1:92108899C>T uc010osx.1 + 3 926 c.926C>T c.(925-927)TCT>TTT p.S309F NR_003130 SubName: Full=cDNA FLJ58812, highly similar to Endoplasmin (Heat shock protein 90kDa beta member 1); 0 TCTCCTCCATCTGTTGAACGA 0.433 ASPM 259266 broad.mit.edu 37 1 197071366 197071366 + Missense_Mutation SNP T G G TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr1:197071366T>G uc001gtu.2 - 18 7272 c.7015A>C c.(7015-7017)ACT>CCT p.T2339P ASPM_uc001gtv.2_Intron|ASPM_uc001gtw.3_Missense_Mutation_p.T187P NM_018136 NP_060606 Q8IZT6 ASPM_HUMAN asp (abnormal spindle)-like, microcephaly 2339 IQ 22.|IQ 23. mitosis cytoplasm|nucleus calmodulin binding ovary(4)|central_nervous_system(2) 6 TGGATGAAAGTAGCAGCCCTG 0.408 RRP15 51018 broad.mit.edu 37 1 218478415 218478415 + Missense_Mutation SNP G A A TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr1:218478415G>A uc001hlj.2 + 3 481 c.451G>A c.(451-453)GAT>AAT p.D151N NM_016052 NP_057136 Q9Y3B9 RRP15_HUMAN ribosomal RNA processing 15 homolog 151 mitochondrion|nucleolus protein binding 0 all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248) AGTAAAGCCAGATGTTGTCCA 0.363 PTEN 5728 broad.mit.edu 37 10 89711891 89711891 + Missense_Mutation SNP G A A TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr10:89711891G>A uc001kfb.2 + 7 1540 c.509G>A c.(508-510)AGT>AAT p.S170N NM_000314 NP_000305 P60484 PTEN_HUMAN phosphatase and tensin homolog 170 Phosphatase tensin-type. S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BZS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4). activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway cytosol|internal side of plasma membrane|PML body anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity p.R55fs*1(4)|p.V166fs*17(3)|p.?(3)|p.G165fs*9(3)|p.S170N(3)|p.S170I(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.V166fs*10(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.S170fs*13(1)|p.S170G(1)|p.S170fs*8(1) endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1) 2334 all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132) KIRC - Kidney renal clear cell carcinoma(1;0.214) UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218) ACTATTCCCAGTCAGAGGCGC 0.353 31 D|Mis|N|F|S glioma| prostate|endometrial harmartoma|glioma| prostate|endometrial Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18) SLC22A10 387775 broad.mit.edu 37 11 63069908 63069908 + Missense_Mutation SNP G A A TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr11:63069908G>A uc009yor.2 + 7 1386 c.1178G>A c.(1177-1179)CGA>CAA p.R393Q SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.3_Intron|SLC22A10_uc010rmp.1_Intron NM_001039752 NP_001034841 Q63ZE4 S22AA_HUMAN solute carrier family 22, member 10 393 Helical; (Potential). integral to membrane transmembrane transporter activity ovary(2) 2 CTCATAGTTCGATGTCTTGCT 0.438 NAALADL1 10004 broad.mit.edu 37 11 64821985 64821985 + Missense_Mutation SNP C T T rs138766443 TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr11:64821985C>T uc001ocn.2 - 5 845 c.829G>A c.(829-831)GGA>AGA p.G277R NAALADL1_uc010rnw.1_5'UTR NM_005468 NP_005459 Q9UQQ1 NALDL_HUMAN N-acetylated alpha-linked acidic 277 NAALADase.|Extracellular (Potential). proteolysis apical plasma membrane|integral to membrane carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity 0 GGGGGAAATCCGGAGACATTG 0.597 UNC93B1 81622 broad.mit.edu 37 11 67765220 67765220 + Silent SNP C T T TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr11:67765220C>T uc001omw.1 - 7 911 c.831G>A c.(829-831)CGG>CGA p.R277R NM_030930 NP_112192 Q9H1C4 UN93B_HUMAN unc-93 homolog B1 277 innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome 0 GCGGGAGCGTCCGCAGAACCG 0.652 MMP10 4319 broad.mit.edu 37 11 102646042 102646042 + Nonsense_Mutation SNP G A A rs150825082 byFrequency TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr11:102646042G>A uc001phg.1 - 7 965 c.943C>T c.(943-945)CGA>TGA p.R315* NM_002425 NP_002416 P09238 MMP10_HUMAN matrix metalloproteinase 10 preproprotein 315 Hemopexin-like 1. collagen catabolic process|proteolysis extracellular space|proteinaceous extracellular matrix calcium ion binding|metalloendopeptidase activity|zinc ion binding kidney(1)|lung(1)|breast(1)|central_nervous_system(1) 4 all_epithelial(12;0.00961) all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967) Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151) BRCA - Breast invasive adenocarcinoma(274;0.0145) TGGGATCTTCGCCAAAAATAT 0.333 KCNA1 3736 broad.mit.edu 37 12 5020794 5020794 + Missense_Mutation SNP C T T TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr12:5020794C>T uc001qnh.2 + 2 1355 c.250C>T c.(250-252)CGC>TGC p.R84C NM_000217 NP_000208 Q09470 KCNA1_HUMAN potassium voltage-gated channel subfamily A 84 synaptic transmission juxtaparanode region of axon|voltage-gated potassium channel complex delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity ovary(1)|skin(1) 2 Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236) CTTCTTCGACCGCAACCGGCC 0.627 C12orf63 374467 broad.mit.edu 37 12 97085019 97085019 + Silent SNP C T T TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr12:97085019C>T uc001tet.1 + 11 1548 c.1470C>T c.(1468-1470)GAC>GAT p.D490D NM_198520 NP_940922 Q6ZTY8 CL063_HUMAN hypothetical protein LOC374467 490 skin(6)|ovary(1) 7 ACAGGGCTGACATTTGCTCTG 0.358 PCDH20 64881 broad.mit.edu 37 13 61986212 61986212 + Missense_Mutation SNP C G G TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr13:61986212C>G uc001vid.3 - 2 2384 c.2020G>C c.(2020-2022)GTC>CTC p.V674L PCDH20_uc010thj.1_Missense_Mutation_p.V674L NM_022843 NP_073754 Q8N6Y1 PCD20_HUMAN protocadherin 20 647 Cadherin 5.|Extracellular (Potential). homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|breast(1)|central_nervous_system(1) 6 Breast(118;0.195)|Prostate(109;0.229) GBM - Glioblastoma multiforme(99;0.000118) GAGAGGGCGACCCATCCATTT 0.458 LRFN5 145581 broad.mit.edu 37 14 42355895 42355895 + Missense_Mutation SNP C T T TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr14:42355895C>T uc001wvm.2 + 3 1265 c.67C>T c.(67-69)CGT>TGT p.R23C LRFN5_uc010ana.2_Missense_Mutation_p.R23C NM_152447 NP_689660 Q96NI6 LRFN5_HUMAN leucine rich repeat and fibronectin type III 23 Extracellular (Potential).|LRRNT. integral to membrane ovary(5)|pancreas(2)|central_nervous_system(1) 8 LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728) GBM - Glioblastoma multiforme(112;0.00847) CTGTCCAAAGCGTTGTGTCTG 0.398 HNSCC(30;0.082) GPR65 8477 broad.mit.edu 37 14 88478097 88478097 + Nonsense_Mutation SNP G A A TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr14:88478097G>A uc001xvv.2 + 2 1436 c.906G>A c.(904-906)TGG>TGA p.W302* NM_003608 NP_003599 Q8IYL9 PSYR_HUMAN G protein-coupled receptor 65 302 Cytoplasmic (Potential). actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity integral to plasma membrane G-protein coupled receptor activity 0 ATGATATGTGGAATATATTAA 0.343 IGF1R 3480 broad.mit.edu 37 15 99454571 99454571 + Missense_Mutation SNP C G G TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr15:99454571C>G uc002bul.2 + 7 1540 c.1490C>G c.(1489-1491)TCC>TGC p.S497C IGF1R_uc010urq.1_Missense_Mutation_p.S497C|IGF1R_uc010bon.2_Missense_Mutation_p.S497C|IGF1R_uc010urr.1_5'UTR NM_000875 NP_000866 P08069 IGF1R_HUMAN insulin-like growth factor 1 receptor precursor 497 Fibronectin type-III 1. anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization microsome ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding lung(3)|kidney(3)|ovary(1)|central_nervous_system(1) 8 all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163) Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261) Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277) CATTTCACCTCCACCACCACG 0.522 LRRK1 79705 broad.mit.edu 37 15 101595206 101595206 + Silent SNP C T T TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr15:101595206C>T uc002bwr.2 + 27 4429 c.4110C>T c.(4108-4110)ATC>ATT p.I1370I LRRK1_uc010usb.1_RNA|LRRK1_uc010usc.1_RNA|LRRK1_uc002bws.2_RNA NM_024652 NP_078928 Q38SD2 LRRK1_HUMAN leucine-rich repeat kinase 1 1370 Protein kinase. small GTPase mediated signal transduction mitochondrion ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity ovary(4)|lung(4)|central_nervous_system(3)|large_intestine(1) 12 Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094) OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23) CCTACCAGATCGCCTCGGGCC 0.438 JMJD5 79831 broad.mit.edu 37 16 27225037 27225037 + Silent SNP C T T TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr16:27225037C>T uc002doh.2 + 3 812 c.630C>T c.(628-630)GGC>GGT p.G210G JMJD5_uc010vcn.1_Silent_p.G248G|JMJD5_uc010bxw.2_Intron|JMJD5_uc010bxx.2_5'Flank NM_024773 NP_079049 Q8N371 KDM8_HUMAN jumonji domain containing 5 isoform 2 210 G2/M transition of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus chromatin binding|histone demethylase activity (H3-K36 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen ovary(2)|upper_aerodigestive_tract(1) 3 TCCTGAAAGGCGTGGCTGACC 0.582 Unknown 0 broad.mit.edu 37 16 28354478 28354478 + Missense_Mutation SNP G A A TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr16:28354478G>A uc010vcq.1 - 7 727 c.674C>T c.(673-675)TCT>TTT p.S225F uc010vcr.1_Missense_Mutation_p.S243F SubName: Full=LOC728741 protein; CAATCCTGAAGAATGACGATG 0.473 CHST5 23563 broad.mit.edu 37 16 75564022 75564022 + Silent SNP G A A TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr16:75564022G>A uc002fei.2 - 3 1656 c.261C>T c.(259-261)GAC>GAT p.D87D CHST5_uc002fej.1_Silent_p.D93D NM_024533 NP_078809 Q9GZS9 CHST5_HUMAN carbohydrate (N-acetylglucosamine 6-O) 87 Lumenal (Potential). N-acetylglucosamine metabolic process|protein sulfation integral to membrane|intrinsic to Golgi membrane N-acetylglucosamine 6-O-sulfotransferase activity 0 GGTAGAAGACGTCGGGGTGCT 0.672 KRTAP4-7 100132476 broad.mit.edu 37 17 39240819 39240819 + Missense_Mutation SNP C G G TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr17:39240819C>G uc010wfn.1 + 1 361 c.361C>G c.(361-363)CTG>GTG p.L121V NM_033061 NP_149050 keratin associated protein 4-7 0 ctgctgctgcCTGCGTCCAGT 0.313 MED13 9969 broad.mit.edu 37 17 60107352 60107352 + Missense_Mutation SNP C G G TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr17:60107352C>G uc002izo.2 - 7 1109 c.1032G>C c.(1030-1032)AAG>AAC p.K344N MED13_uc002izp.2_5'UTR NM_005121 NP_005112 Q9UHV7 MED13_HUMAN mediator complex subunit 13 344 androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter mediator complex ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding large_intestine(1)|ovary(1) 2 ATTTGACCCACTTCTGGACAG 0.363 LAMA1 284217 broad.mit.edu 37 18 7011417 7011417 + Missense_Mutation SNP G A A TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr18:7011417G>A uc002knm.2 - 25 3663 c.3569C>T c.(3568-3570)ACG>ATG p.T1190M LAMA1_uc010wzj.1_Missense_Mutation_p.T666M NM_005559 NP_005550 P25391 LAMA1_HUMAN laminin, alpha 1 precursor 1190 Laminin IV type A 2. 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) CCCCTCGGTCGTGCCCCTCAA 0.597 MUC16 94025 broad.mit.edu 37 19 9088981 9088981 + Missense_Mutation SNP G A A TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr19:9088981G>A uc002mkp.2 - 1 3038 c.2834C>T c.(2833-2835)ACG>ATG p.T945M NM_024690 NP_078966 Q8WXI7 MUC16_HUMAN mucin 16 945 Thr-rich.|Extracellular (Potential). cell adhesion extracellular space|extrinsic to membrane|integral to membrane|plasma membrane protein binding lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1) 57 CATTGTTGCCGTCCCAGTGAG 0.478 FCGBP 8857 broad.mit.edu 37 19 40376645 40376645 + Missense_Mutation SNP T G G TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr19:40376645T>G uc002omp.3 - 24 11785 c.11777A>C c.(11776-11778)AAT>ACT p.N3926T NM_003890 NP_003881 Q9Y6R7 FCGBP_HUMAN Fc fragment of IgG binding protein precursor 3926 extracellular region protein binding ovary(4)|skin(4)|central_nervous_system(1) 9 all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06) Epithelial(26;6.25e-23)|all cancers(26;1.13e-20) GAAAGTTTCATTCCTCCAGGG 0.627 APOB 338 broad.mit.edu 37 2 21238335 21238335 + Missense_Mutation SNP C T T TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr2:21238335C>T uc002red.2 - 22 3543 c.3415G>A c.(3415-3417)GCC>ACC p.A1139T NM_000384 NP_000375 P04114 APOB_HUMAN apolipoprotein B precursor 1139 cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity ovary(11)|skin(9)|central_nervous_system(3)|large_intestine(2)|upper_aerodigestive_tract(1)|pancreas(1) 27 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) Atorvastatin(DB01076) GACCAGTGGGCGAGGATCTCA 0.463 SDPR 8436 broad.mit.edu 37 2 192711670 192711670 + Translation_Start_Site SNP G A A TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr2:192711670G>A uc002utb.2 - 1 312 c.-18C>T c.(-20--16)AACGT>AATGT NM_004657 NP_004648 O95810 SDPR_HUMAN serum deprivation response protein caveola|cytosol phosphatidylserine binding|protein binding ovary(1)|pancreas(1) 2 OV - Ovarian serous cystadenocarcinoma(117;0.0647) Phosphatidylserine(DB00144) AGGTGGGAACGTTCTTTCTCT 0.617 ALS2CR11 151254 broad.mit.edu 37 2 202483659 202483659 + Frame_Shift_Del DEL G - - TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr2:202483659delG uc002uye.2 - 1 243 c.195delC c.(193-195)AACfs p.N65fs ALS2CR11_uc002uyf.2_Frame_Shift_Del_p.N65fs|ALS2CR11_uc010fti.2_Frame_Shift_Del_p.N65fs NM_152525 NP_689738 Q53TS8 AL2SA_HUMAN amyotrophic lateral sclerosis 2 (juvenile) 65 large_intestine(1)|ovary(1)|skin(1) 3 CCTGGTTCTTGTTCTTAGGCA 0.657 PFKL 5211 broad.mit.edu 37 21 45732952 45732952 + Silent SNP C T T TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr21:45732952C>T uc002zel.2 + 5 578 c.519C>T c.(517-519)GAC>GAT p.D173D PFKL_uc002zek.2_Silent_p.D220D|PFKL_uc011afd.1_Silent_p.D220D NM_002626 NP_002617 P17858 K6PL_HUMAN liver phosphofructokinase 173 fructose 6-phosphate metabolic process|glycolysis|protein oligomerization 6-phosphofructokinase complex 6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding 0 Colorectal(79;0.0811) GCGGCACCGACATGACCATCG 0.632 PARVB 29780 broad.mit.edu 37 22 44536022 44536022 + Silent SNP C T T rs149571024 TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr22:44536022C>T uc003ben.2 + 8 763 c.711C>T c.(709-711)TTC>TTT p.F237F PARVB_uc003bem.2_Silent_p.F270F|PARVB_uc010gzn.2_Silent_p.F185F|PARVB_uc003beo.2_Silent_p.F200F NM_013327 NP_037459 Q9HBI1 PARVB_HUMAN parvin, beta isoform b 237 cell adhesion|cell junction assembly cytoskeleton|cytosol|focal adhesion actin binding 0 Ovarian(80;0.0246)|all_neural(38;0.0423) TGGGCCGGTTCGGTAAGTAAC 0.532 UNC5C 8633 broad.mit.edu 37 4 96127874 96127874 + Missense_Mutation SNP G A A rs139568380 byFrequency TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr4:96127874G>A uc003htp.1 - 11 1961 c.1807C>T c.(1807-1809)CGC>TGC p.R603C UNC5C_uc010ilc.1_Missense_Mutation_p.R622C NM_003728 NP_003719 O95185 UNC5C_HUMAN unc5C precursor 603 Cytoplasmic (Potential).|ZU5. apoptosis|axon guidance|brain development integral to membrane netrin receptor activity ovary(3)|pancreas(1) 4 Hepatocellular(203;0.114) OV - Ovarian serous cystadenocarcinoma(123;8.72e-10) ACGACTGGGCGGGTGAGCAGA 0.582 AHRR 57491 broad.mit.edu 37 5 422882 422882 + Silent SNP C T T rs2671894 byFrequency TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr5:422882C>T uc003jav.2 + 6 536 c.492C>T c.(490-492)CAC>CAT p.H164H AHRR_uc003jaw.2_Silent_p.H160H|AHRR_uc010isy.2_Silent_p.H10H|AHRR_uc010isz.2_Silent_p.H160H|AHRR_uc003jax.2_Translation_Start_Site|AHRR_uc003jay.2_Silent_p.H20H NM_020731 NP_065782 A9YTQ3 AHRR_HUMAN arylhydrocarbon receptor repressor 164 PAS. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity breast(2) 2 Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863) ACTACATCCACGTGGACGACC 0.547 CARD6 84674 broad.mit.edu 37 5 40853877 40853877 + Frame_Shift_Del DEL T - - TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr5:40853877delT uc003jmg.2 + 3 2518 c.2443delT c.(2443-2445)TTTfs p.F815fs NM_032587 NP_115976 Q9BX69 CARD6_HUMAN caspase recruitment domain family, member 6 815 apoptosis|regulation of apoptosis intracellular ovary(2)|skin(2)|lung(1) 5 GAATGGAACATTTGGGAGACT 0.453 HCN1 348980 broad.mit.edu 37 5 45262241 45262241 + Missense_Mutation SNP C T T TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr5:45262241C>T uc003jok.2 - 8 2480 c.2455G>A c.(2455-2457)GTG>ATG p.V819M NM_021072 NP_066550 O60741 HCN1_HUMAN hyperpolarization activated cyclic 819 Cytoplasmic (Potential). integral to membrane cAMP binding|sodium channel activity|voltage-gated potassium channel activity ovary(1) 1 ACCGCCGTCACGGGTTGAGGG 0.677 DMGDH 29958 broad.mit.edu 37 5 78326739 78326739 + Missense_Mutation SNP G T T TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr5:78326739G>T uc003kfs.2 - 10 1606 c.1600C>A c.(1600-1602)CTA>ATA p.L534I DMGDH_uc011cte.1_Missense_Mutation_p.L384I|DMGDH_uc011ctf.1_Missense_Mutation_p.L333I|DMGDH_uc011ctg.1_Missense_Mutation_p.L154I NM_013391 NP_037523 Q9UI17 M2GD_HUMAN dimethylglycine dehydrogenase precursor 534 choline metabolic process|glycine catabolic process mitochondrial matrix aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity ovary(2)|liver(1)|skin(1) 4 all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192) OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35) AATGGTGATAGGTCAGTTACC 0.433 GCNT2 2651 broad.mit.edu 37 6 10529185 10529186 + Frame_Shift_Del DEL TT - - TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr6:10529185_10529186delTT uc010joo.2 + 3 592_593 c.41_42delTT c.(40-42)CTTfs p.L14fs GCNT2_uc010jol.2_Intron|GCNT2_uc010jom.2_Intron|GCNT2_uc010jop.2_Intron|GCNT2_uc003mza.2_Intron|GCNT2_uc003mzc.3_Frame_Shift_Del_p.L13fs|GCNT2_uc010jon.2_Frame_Shift_Del_p.L13fs NM_145649 NP_663624 Q8N0V5 GNT2A_HUMAN glucosaminyl (N-acetyl) transferase 2, 14 Helical; Signal-anchor for type II membrane protein; (Potential). Golgi membrane|integral to membrane N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity ovary(2) 2 Ovarian(93;0.107)|Breast(50;0.148) all_hematologic(90;0.107) KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119) AGCGCGTCTCTTATCTCTGCCC 0.401 LAMA2 3908 broad.mit.edu 37 6 129823804 129823804 + Missense_Mutation SNP G A A TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr6:129823804G>A uc003qbn.2 + 58 8350 c.8245G>A c.(8245-8247)GGT>AGT p.G2749S LAMA2_uc003qbo.2_Missense_Mutation_p.G2745S|uc003qbq.2_RNA NM_000426 NP_000417 P24043 LAMA2_HUMAN laminin alpha 2 subunit isoform a precursor 2749 cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development laminin-1 complex receptor binding|structural molecule activity ovary(8)|breast(1)|skin(1) 10 OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245) TATTTTACAGGGTCCTTGTGC 0.388 PHACTR2 9749 broad.mit.edu 37 6 144086812 144086812 + Missense_Mutation SNP T C C TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr6:144086812T>C uc003qjq.3 + 6 1206 c.1076T>C c.(1075-1077)GTT>GCT p.V359A PHACTR2_uc010khh.2_Missense_Mutation_p.V279A|PHACTR2_uc010khi.2_Missense_Mutation_p.V370A|PHACTR2_uc003qjr.3_Missense_Mutation_p.V290A NM_014721 NP_055536 O75167 PHAR2_HUMAN phosphatase and actin regulator 2 isoform 3 359 actin binding|protein phosphatase inhibitor activity ovary(2) 2 OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386) CTCGTCAGCGTTGGAGCTGAC 0.582 SERAC1 84947 broad.mit.edu 37 6 158579375 158579375 + Silent SNP G A A rs139301835 byFrequency TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr6:158579375G>A uc003qrc.2 - 2 163 c.21C>T c.(19-21)TGC>TGT p.C7C SERAC1_uc003qrb.2_5'UTR NM_032861 NP_116250 Q96JX3 SRAC1_HUMAN serine active site containing 1 7 GPI anchor metabolic process|intracellular protein transport integral to membrane|intrinsic to endoplasmic reticulum membrane binding|hydrolase activity, acting on ester bonds 0 Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178) OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05) AACAGATGACGCAATAAGCAG 0.358 PCLO 27445 broad.mit.edu 37 7 82579939 82579939 + Missense_Mutation SNP G T T TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr7:82579939G>T uc003uhx.2 - 6 10254 c.9965C>A c.(9964-9966)CCT>CAT p.P3322H PCLO_uc003uhv.2_Missense_Mutation_p.P3322H|PCLO_uc010lec.2_Missense_Mutation_p.P287H NM_033026 NP_149015 Q9Y6V0 PCLO_HUMAN piccolo isoform 1 3253 cytoskeleton organization|synaptic vesicle exocytosis cell junction|cytoskeleton|synaptic vesicle calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity ovary(7) 7 AGTTCCAGAAGGGTCATAGTT 0.478 EPHB4 2050 broad.mit.edu 37 7 100411279 100411279 + Missense_Mutation SNP C T T TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr7:100411279C>T uc003uwn.1 - 10 2242 c.1751G>A c.(1750-1752)GGA>GAA p.G584E EPHB4_uc003uwm.1_Missense_Mutation_p.G491E|EPHB4_uc010lhj.1_Missense_Mutation_p.G584E NM_004444 NP_004435 P54760 EPHB4_HUMAN EPH receptor B4 precursor 584 Cytoplasmic (Potential). cell proliferation|organ morphogenesis|regulation of angiogenesis cell surface|integral to plasma membrane ATP binding|ephrin receptor activity lung(4)|stomach(3)|skin(3)|central_nervous_system(2)|ovary(2)|breast(1) 15 Lung NSC(181;0.041)|all_lung(186;0.0581) CCCACCATGTCCGATGAGATA 0.343 CADPS2 93664 broad.mit.edu 37 7 121960313 121960313 + Missense_Mutation SNP C T T TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr7:121960313C>T uc010lkp.2 - 29 3960 c.3797G>A c.(3796-3798)CGT>CAT p.R1266H CADPS2_uc011knx.1_Missense_Mutation_p.R641H|CADPS2_uc003vkg.3_Missense_Mutation_p.R920H|CADPS2_uc010lkq.2_Missense_Mutation_p.R1225H NM_017954 NP_060424 Q86UW7 CAPS2_HUMAN Ca2+-dependent activator protein for secretion 2 1266 exocytosis|protein transport cell junction|cytoplasmic vesicle membrane|synapse lipid binding|metal ion binding ovary(1)|central_nervous_system(1) 2 TACTGTTAAACGTCTGTGCAC 0.433 FREM1 158326 broad.mit.edu 37 9 14824887 14824887 + Missense_Mutation SNP G C C TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr9:14824887G>C uc003zlm.2 - 11 2575 c.1985C>G c.(1984-1986)ACT>AGT p.T662S FREM1_uc010mic.2_RNA NM_144966 NP_659403 Q5H8C1 FREM1_HUMAN FRAS1 related extracellular matrix 1 precursor 662 CSPG 4. cell communication|multicellular organismal development basement membrane|integral to membrane metal ion binding|sugar binding ovary(2)|breast(2)|pancreas(1) 5 GBM - Glioblastoma multiforme(50;3.53e-06) CTGTTTCTTAGTTATATAGGC 0.428 CRB2 286204 broad.mit.edu 37 9 126136965 126136965 + Missense_Mutation SNP C T T TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chr9:126136965C>T uc004bnx.1 + 11 3589 c.3497C>T c.(3496-3498)GCT>GTT p.A1166V NM_173689 NP_775960 Q5IJ48 CRUM2_HUMAN crumbs homolog 2 precursor 1166 Extracellular (Potential).|EGF-like 14. extracellular region|integral to membrane|plasma membrane calcium ion binding ovary(1) 1 GAGGGTCTTGCTGGCCAGAGG 0.657 GATA1 2623 broad.mit.edu 37 X 48650419 48650419 + Missense_Mutation SNP C A A TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chrX:48650419C>A uc004dkq.3 + 3 480 c.389C>A c.(388-390)ACC>AAC p.T130N NM_002049 NP_002040 P15976 GATA1_HUMAN GATA binding protein 1 130 basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter nuclear membrane|nucleolus|nucleoplasm C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding p.?(2)|p.V74_C199del(1) haematopoietic_and_lymphoid_tissue(246)|lung(2) 248 AAAGGCAGCACCAGCTTCCTG 0.602 Mis|F megakaryoblastic leukemia of Downs Syndrome ACTRT1 139741 broad.mit.edu 37 X 127185485 127185485 + Missense_Mutation SNP C T T TCGA-14-0781-01B-01D-1696-08 TCGA-14-0781-10A-01D-1696-08 Somatic Phase_I Capture Illumina GAIIx 13878ec6-fce7-423e-b545-6656145e9d2c 59932204-ddef-439f-8b64-e40f5605827c g.chrX:127185485C>T uc004eum.2 - 1 898 c.701G>A c.(700-702)CGG>CAG p.R234Q NM_138289 NP_612146 Q8TDG2 ACTT1_HUMAN actin-related protein T1 234 cytoplasm|cytoskeleton ovary(2)|central_nervous_system(2)|skin(1) 5 GACCTCTCCCCGGCTCTTGCG 0.507