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 ARID1A 8289 broad.mit.edu 37 1 27056214 27056214 + Nonsense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr1:27056214C>T uc001bmv.1 + 2 1583 c.1210C>T c.(1210-1212)CAA>TAA p.Q404* ARID1A_uc001bmt.1_Nonsense_Mutation_p.Q404*|ARID1A_uc001bmu.1_Nonsense_Mutation_p.Q404*|ARID1A_uc001bmw.1_Nonsense_Mutation_p.Q21* NM_006015 NP_006006 O14497 ARI1A_HUMAN AT rich interactive domain 1A isoform a 404 androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent nBAF complex|npBAF complex|SWI/SNF complex DNA binding|protein binding ovary(124)|pancreas(5)|central_nervous_system(3)|endometrium(3)|kidney(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1) 142 all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381) UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242) ATACTCGCAGCAACAGGGACC 0.572000 Mis|N|F|S|D clear cell ovarian carcinoma|RCC PTCH2 8643 broad.mit.edu 37 1 45288225 45288225 + Silent SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr1:45288225G>A uc010olf.1 - 22 3486 c.3474C>T c.(3472-3474)ACC>ACT p.T1158T PTCH2_uc010olg.1_Silent_p.T856T NM_003738 NP_003729 Q9Y6C5 PTC2_HUMAN patched 2 1158 Cytoplasmic (Potential). protein complex assembly|spermatogenesis integral to plasma membrane hedgehog receptor activity lung(6)|breast(6)|central_nervous_system(3)|skin(2)|ovary(1) 18 Acute lymphoblastic leukemia(166;0.155) CGGTCATGGAGGTAGTCACTC 0.647000 Basal_Cell_Nevus_syndrome LPHN2 23266 broad.mit.edu 37 1 82436147 82436147 + Silent SNP T T C TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr1:82436147T>C uc001dit.3 + 15 3013 c.2832T>C c.(2830-2832)GGT>GGC p.G944G LPHN2_uc001dis.2_Intron|LPHN2_uc001diu.2_Silent_p.G944G|LPHN2_uc001div.2_Silent_p.G944G|LPHN2_uc009wcd.2_Silent_p.G944G|LPHN2_uc001diw.2_Silent_p.G528G|LPHN2_uc009wce.1_Silent_p.G30G NM_012302 NP_036434 O95490 LPHN2_HUMAN latrophilin 2 precursor 957 Helical; Name=4; (Potential). neuropeptide signaling pathway integral to membrane|plasma membrane G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding ovary(3)|lung(3)|breast(2)|central_nervous_system(1) 9 all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248) ATGTTGCTGGTTACTTGTTTC 0.388000 KIF21B 23046 broad.mit.edu 37 1 200967659 200967659 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr1:200967659C>T uc001gvs.1 - 14 2247 c.1930G>A c.(1930-1932)GAA>AAA p.E644K KIF21B_uc001gvr.1_Missense_Mutation_p.E644K|KIF21B_uc009wzl.1_Missense_Mutation_p.E644K|KIF21B_uc010ppn.1_Missense_Mutation_p.E644K NM_017596 NP_060066 O75037 KI21B_HUMAN kinesin family member 21B 644 Potential. microtubule-based movement cytoplasm|microtubule ATP binding|microtubule motor activity ovary(3)|skin(3) 6 TGCTTGATTTCGATCTCACAA 0.567000 LYST 1130 broad.mit.edu 37 1 235973499 235973499 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr1:235973499G>A uc001hxj.2 - 5 794 c.619C>T c.(619-621)CGC>TGC p.R207C LYST_uc009xgb.1_RNA|LYST_uc010pxs.1_RNA|LYST_uc001hxl.1_Missense_Mutation_p.R207C NM_000081 NP_000072 Q99698 LYST_HUMAN lysosomal trafficking regulator 207 defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport cytoplasm|microtubule cytoskeleton protein binding ovary(6)|breast(4)|central_nervous_system(2) 12 Ovarian(103;0.0634)|Breast(184;0.23) all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228) OV - Ovarian serous cystadenocarcinoma(106;0.000674) GTTGCTAAGCGGTCAAGTTTA 0.413000 Chediak-Higashi_syndrome OR2T12 127064 broad.mit.edu 37 1 248458186 248458186 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr1:248458186C>T uc010pzj.1 - 1 695 c.695G>A c.(694-696)CGC>CAC p.R232H NM_001004692 NP_001004692 Q8NG77 O2T12_HUMAN olfactory receptor, family 2, subfamily T, 232 Cytoplasmic (Potential). sensory perception of smell integral to membrane|plasma membrane olfactory receptor activity skin(2)|ovary(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) OV - Ovarian serous cystadenocarcinoma(106;0.0201) GGCCTTCTTGCGGGCTTCTGT 0.522000 SIRT1 23411 broad.mit.edu 37 10 69676111 69676111 + Missense_Mutation SNP A A G TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr10:69676111A>G uc001jnd.2 + 9 2058 c.2005A>G c.(2005-2007)AGT>GGT p.S669G SIRT1_uc010qis.1_Missense_Mutation_p.S374G|SIRT1_uc009xpp.2_Missense_Mutation_p.S477G|SIRT1_uc001jne.2_Missense_Mutation_p.S366G NM_012238 NP_036370 Q96EB6 SIRT1_HUMAN sirtuin 1 isoform a 669 apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding 0 CTTATCCTCTAGTTCTTGTGG 0.408000 MYPN 84665 broad.mit.edu 37 10 69934039 69934039 + Silent SNP G G A rs71584492 TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr10:69934039G>A uc001jnm.3 + 12 2375 c.2190G>A c.(2188-2190)ACG>ACA p.T730T MYPN_uc001jnn.3_Silent_p.T455T|MYPN_uc001jno.3_Silent_p.T730T|MYPN_uc009xpt.2_Silent_p.T730T|MYPN_uc010qit.1_Silent_p.T436T|MYPN_uc010qiu.1_RNA NM_032578 NP_115967 Q86TC9 MYPN_HUMAN myopalladin 730 nucleus|sarcomere actin binding ovary(3)|skin(2) 5 TCCCCTCCACGAACACCACCG 0.552000 RBMXL2 27288 broad.mit.edu 37 11 7111052 7111052 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr11:7111052C>T uc001mfc.2 + 1 888 c.701C>T c.(700-702)TCG>TTG p.S234L NM_014469 NP_055284 O75526 HNRGT_HUMAN testes-specific heterogenous nuclear 234 Arg/Gly/Pro-rich. nucleus|ribonucleoprotein complex nucleotide binding|RNA binding 0 Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189) TTTGCCCCCTCGCCCGGAGAG 0.687000 PDE3B 5140 broad.mit.edu 37 11 14808127 14808127 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr11:14808127G>A uc001mln.2 + 3 1527 c.1174G>A c.(1174-1176)GGT>AGT p.G392S PDE3B_uc010rcr.1_Intron NM_000922 NP_000913 Q13370 PDE3B_HUMAN phosphodiesterase 3B 392 cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome 3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding 0 TGCTTTCTCAGGTTCCTGTAG 0.448000 PAMR1 25891 broad.mit.edu 37 11 35496285 35496285 + Silent SNP G G T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr11:35496285G>T uc001mwg.2 - 4 430 c.387C>A c.(385-387)GGC>GGA p.G129G PAMR1_uc001mwf.2_Silent_p.G129G|PAMR1_uc010rew.1_Intron|PAMR1_uc010rex.1_Silent_p.G89G NM_001001991 NP_001001991 Q6UXH9 PAMR1_HUMAN regeneration associated muscle protease isoform 129 CUB. proteolysis extracellular region serine-type endopeptidase activity ovary(2) 2 GCAGAACCTGGCCACATCCTA 0.448000 SHANK2 22941 broad.mit.edu 37 11 70332291 70332291 + Silent SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr11:70332291G>A uc001oqc.2 - 21 4185 c.4107C>T c.(4105-4107)ACC>ACT p.T1369T SHANK2_uc010rqn.1_Silent_p.T781T|SHANK2_uc001opz.2_Silent_p.T774T|uc009ysn.1_Intron|SHANK2_uc001opy.2_Intron NM_012309 NP_036441 Q9UPX8 SHAN2_HUMAN SH3 and multiple ankyrin repeat domains 2 990 intracellular signal transduction cell junction|cytoplasm|postsynaptic density|postsynaptic membrane GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1) 5 LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071) TGCCGGGCACGGTGGTGGGCT 0.622000 FAT3 120114 broad.mit.edu 37 11 92430579 92430579 + Missense_Mutation SNP G G C TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr11:92430579G>C uc001pdj.3 + 3 3654 c.3637G>C c.(3637-3639)GAT>CAT p.D1213H NM_001008781 NP_001008781 Q8TDW7 FAT3_HUMAN FAT tumor suppressor homolog 3 1213 Cadherin 11.|Extracellular (Potential). homophilic cell adhesion|multicellular organismal development integral to membrane|plasma membrane calcium ion binding ovary(4)|pancreas(1) 5 Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858) AAGGAAATTGGATCGAGAACA 0.378000 TCGA Ovarian(4;0.039) ARHGAP20 57569 broad.mit.edu 37 11 110453059 110453059 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr11:110453059C>T uc001pkz.1 - 15 1991 c.1706G>A c.(1705-1707)AGA>AAA p.R569K ARHGAP20_uc001pky.1_Missense_Mutation_p.R546K|ARHGAP20_uc009yyb.1_Missense_Mutation_p.R533K|ARHGAP20_uc001pla.1_Missense_Mutation_p.R533K|ARHGAP20_uc001plb.2_Missense_Mutation_p.R112K NM_020809 NP_065860 Q9P2F6 RHG20_HUMAN Rho GTPase activating protein 20 569 regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction cytosol GTPase activator activity ovary(3)|kidney(2) 5 all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544) Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475) GGCATTCTCTCTAGTGTCACA 0.413000 DSCAML1 57453 broad.mit.edu 37 11 117389392 117389392 + Silent SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr11:117389392G>A uc001prh.1 - 7 1481 c.1479C>T c.(1477-1479)GGC>GGT p.G493G DSCAML1_uc001pri.1_Silent_p.G297G NM_020693 NP_065744 Q8TD84 DSCL1_HUMAN Down syndrome cell adhesion molecule like 1 433 Extracellular (Potential).|Ig-like C2-type 5. axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion cell surface|integral to membrane|plasma membrane protein homodimerization activity ovary(3)|large_intestine(2)|skin(2)|upper_aerodigestive_tract(1) 8 all_hematologic(175;0.0487) Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232) BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172) GGGGCGGGGCGCCCTTGGCCG 0.672000 SNX19 399979 broad.mit.edu 37 11 130784835 130784835 + Missense_Mutation SNP C C T rs143532789 TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr11:130784835C>T uc001qgk.3 - 1 1548 c.1000G>A c.(1000-1002)GAA>AAA p.E334K SNX19_uc010sce.1_Intron|SNX19_uc010scf.1_Intron|SNX19_uc010scg.1_Intron|SNX19_uc001qgl.3_Missense_Mutation_p.E334K|SNX19_uc009zcx.1_Intron NM_014758 NP_055573 Q92543 SNX19_HUMAN sorting nexin 19 334 cell communication|protein transport cytoplasmic vesicle membrane phosphatidylinositol binding|protein binding ovary(2)|lung(2) 4 all_hematologic(175;0.0597) Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425) OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233) TCTACAGCTTCGTGGCCTTCT 0.502000 TROAP 10024 broad.mit.edu 37 12 49724178 49724178 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr12:49724178C>T uc001rtx.3 + 13 1717 c.1550C>T c.(1549-1551)CCG>CTG p.P517L TROAP_uc009zlh.2_Missense_Mutation_p.P517L|TROAP_uc001rty.2_Missense_Mutation_p.P225L NM_005480 NP_005471 Q12815 TROAP_HUMAN tastin isoform 1 517 Cys-rich.|4 X 33 AA approximate tandem repeats.|1. cell adhesion cytoplasm ovary(1) 1 CCCTGCCCTCCGGCAGAGCCT 0.602000 NAP1L1 4673 broad.mit.edu 37 12 76449896 76449896 + Nonsense_Mutation SNP C C A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr12:76449896C>A uc001sxw.2 - 7 887 c.475G>T c.(475-477)GAA>TAA p.E159* NAP1L1_uc001sxv.2_Nonsense_Mutation_p.E117*|NAP1L1_uc001sxz.2_Nonsense_Mutation_p.E90*|NAP1L1_uc001sxx.2_Nonsense_Mutation_p.E159*|NAP1L1_uc001sxy.2_Nonsense_Mutation_p.E96*|NAP1L1_uc010sty.1_Nonsense_Mutation_p.E116*|NAP1L1_uc010stz.1_5'UTR|NAP1L1_uc010sua.1_Nonsense_Mutation_p.E159*|NAP1L1_uc001syb.2_Nonsense_Mutation_p.E159*|NAP1L1_uc001sya.2_Nonsense_Mutation_p.E117*|NAP1L1_uc001syc.2_Nonsense_Mutation_p.E170* NM_139207 NP_631946 P55209 NP1L1_HUMAN nucleosome assembly protein 1-like 1 159 DNA replication|nucleosome assembly|positive regulation of cell proliferation chromatin assembly complex|melanosome protein binding ovary(1)|skin(1) 2 Colorectal(145;0.09) TCTTTTTCTTCATCTTTTTTC 0.308000 HAL 3034 broad.mit.edu 37 12 96377755 96377755 + Silent SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr12:96377755C>T uc001tem.1 - 15 1518 c.1221G>A c.(1219-1221)GTG>GTA p.V407V HAL_uc009zti.1_RNA|HAL_uc010suw.1_Silent_p.V199V|HAL_uc010sux.1_Silent_p.V407V NM_002108 NP_002099 P42357 HUTH_HUMAN histidine ammonia-lyase 407 biosynthetic process|histidine catabolic process cytosol histidine ammonia-lyase activity ovary(2)|skin(1) 3 L-Histidine(DB00117) TTGTATCATTCACCACACCAT 0.323000 WSCD2 9671 broad.mit.edu 37 12 108641966 108641966 + Missense_Mutation SNP A A G TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr12:108641966A>G uc001tms.2 + 9 2288 c.1544A>G c.(1543-1545)GAT>GGT p.D515G WSCD2_uc001tmt.2_Missense_Mutation_p.D515G|WSCD2_uc001tmu.2_Missense_Mutation_p.D283G NM_014653 NP_055468 Q2TBF2 WSCD2_HUMAN WSC domain containing 2 515 integral to membrane ovary(1)|large_intestine(1)|breast(1) 3 AGCCAGAAGGATGGCAACTTC 0.592000 OAS3 4940 broad.mit.edu 37 12 113379558 113379558 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr12:113379558C>T uc001tug.2 + 2 448 c.361C>T c.(361-363)CCT>TCT p.P121S OAS3_uc001tue.2_Missense_Mutation_p.P121S|OAS3_uc001tuf.2_Missense_Mutation_p.P121S NM_006187 NP_006178 Q9Y6K5 OAS3_HUMAN 2'-5'oligoadenylate synthetase 3 121 OAS domain 1. interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway microsome ATP binding|nucleotidyltransferase activity|RNA binding central_nervous_system(1) 1 ACTCACGTTTCCTGAGCAGAG 0.607000 FLT1 2321 broad.mit.edu 37 13 29001982 29001982 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr13:29001982C>T uc001usb.3 - 9 1468 c.1183G>A c.(1183-1185)GTA>ATA p.V395I FLT1_uc010aar.1_Missense_Mutation_p.V395I|FLT1_uc001usc.3_Missense_Mutation_p.V395I|FLT1_uc010tdp.1_Missense_Mutation_p.V395I NM_002019 NP_002010 P17948 VGFR1_HUMAN fms-related tyrosine kinase 1 isoform 1 395 Ig-like C2-type 4.|Extracellular (Potential). cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway extracellular space|Golgi apparatus|integral to plasma membrane|nucleus ATP binding|growth factor binding|vascular endothelial growth factor receptor activity lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1) 24 Acute lymphoblastic leukemia(6;0.04) Lung SC(185;0.0262)|Breast(139;0.188) Colorectal(13;0.000674) all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207) Sunitinib(DB01268) TCTTCAGTTACGTCCTTGATA 0.388000 TRPC4 7223 broad.mit.edu 37 13 38211356 38211356 + Missense_Mutation SNP C C T rs142683062 byFrequency TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr13:38211356C>T uc001uws.2 - 11 2853 c.2618G>A c.(2617-2619)CGT>CAT p.R873H TRPC4_uc010abv.2_Missense_Mutation_p.R453H|TRPC4_uc001uwt.2_Missense_Mutation_p.R789H|TRPC4_uc010tey.1_Missense_Mutation_p.R732H|TRPC4_uc010abw.2_Missense_Mutation_p.R700H|TRPC4_uc010abx.2_Missense_Mutation_p.R878H|TRPC4_uc010aby.2_Missense_Mutation_p.R724H NM_016179 NP_057263 Q9UBN4 TRPC4_HUMAN transient receptor potential cation channel, 873 Binds to ITPR1, ITPR2 and ITPR3.|Cytoplasmic (Potential). axon guidance|calcium ion import basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton beta-catenin binding|cadherin binding|store-operated calcium channel activity ovary(3)|skin(2)|breast(1) 6 all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126) AGCCTGTTGACGAGCAACTTC 0.428000 DAOA 267012 broad.mit.edu 37 13 106119489 106119489 + Missense_Mutation SNP T T G TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr13:106119489T>G uc001vqb.2 + 2 406 c.132T>G c.(130-132)ATT>ATG p.I44M DAOA_uc010tjf.1_Translation_Start_Site|DAOA_uc001vpz.2_RNA|DAOA_uc010agd.2_RNA|DAOA_uc010tjg.1_Translation_Start_Site|DAOA_uc001vqc.2_RNA|DAOA_uc001vqe.2_RNA NM_172370 NP_758958 P59103 DAOA_HUMAN D-amino acid oxidase activator isoform 1 44 Golgi apparatus 0 Lung NSC(43;0.01)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169) TAAACTCTATTGGTATGTTAC 0.284000 NPAS3 64067 broad.mit.edu 37 14 33684530 33684530 + Silent SNP C C A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr14:33684530C>A uc001wru.2 + 3 347 c.283C>A c.(283-285)CGA>AGA p.R95R NPAS3_uc001wrs.2_Silent_p.R65R|NPAS3_uc001wrt.2_Silent_p.R65R|NPAS3_uc001wrv.2_Silent_p.R65R|NPAS3_uc001wrw.2_5'UTR NM_173159 NP_071406 Q8IXF0 NPAS3_HUMAN neuronal PAS domain protein 3 isoform 3 95 Helix-loop-helix motif. regulation of transcription, DNA-dependent|transcription, DNA-dependent cytoplasm|nucleus DNA binding|signal transducer activity ovary(1)|skin(1) 2 Breast(36;0.0102)|Hepatocellular(127;0.133) LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968) GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115) ATCCATCATTCGACTTACAAT 0.493000 DACT1 51339 broad.mit.edu 37 14 59113725 59113725 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr14:59113725C>T uc001xdw.2 + 4 2548 c.2384C>T c.(2383-2385)ACG>ATG p.T795M DACT1_uc010trv.1_Missense_Mutation_p.T514M|DACT1_uc001xdx.2_Missense_Mutation_p.T758M|DACT1_uc010trw.1_Missense_Mutation_p.T514M NM_016651 NP_057735 Q9NYF0 DACT1_HUMAN dapper 1 isoform 1 795 multicellular organismal development|Wnt receptor signaling pathway cytoplasm|nucleus large_intestine(2)|lung(2)|ovary(1) 5 CCCATTCAAACGGTAACGGCC 0.537000 EVL 51466 broad.mit.edu 37 14 100595908 100595908 + Silent SNP C C T rs145112596 byFrequency TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr14:100595908C>T uc001ygt.2 + 7 959 c.720C>T c.(718-720)GAC>GAT p.D240D EVL_uc001ygv.2_Silent_p.D246D|EVL_uc001ygu.2_Silent_p.D242D|EVL_uc010avu.2_Silent_p.D99D NM_016337 NP_057421 Q9UI08 EVL_HUMAN Enah/Vasp-like 240 EVH2.|EVH2 block A. actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis cytoskeleton|cytosol|focal adhesion|lamellipodium actin binding|profilin binding|SH3 domain binding large_intestine(2)|ovary(1) 3 Melanoma(154;0.152) AGCCAGAAGACGCATCTGGAG 0.587000 TGM7 116179 broad.mit.edu 37 15 43577123 43577123 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr15:43577123C>T uc001zrf.1 - 7 898 c.893G>A c.(892-894)CGT>CAT p.R298H NM_052955 NP_443187 Q96PF1 TGM7_HUMAN transglutaminase 7 298 peptide cross-linking acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity ovary(2) 2 all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215) GBM - Glioblastoma multiforme(94;9.14e-07) L-Glutamine(DB00130) GGAAACAACACGGGTTGGAAC 0.413000 CLK3 1198 broad.mit.edu 37 15 74912538 74912538 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr15:74912538G>A uc010uln.1 + 3 1246 c.785G>A c.(784-786)CGC>CAC p.R262H CLK3_uc002ayg.3_Missense_Mutation_p.R114H|CLK3_uc002ayh.3_5'UTR|CLK3_uc010ulm.1_Missense_Mutation_p.R262H|CLK3_uc002ayj.3_Missense_Mutation_p.R114H|CLK3_uc002ayk.3_5'UTR NM_001130028 NP_001123500 P49761 CLK3_HUMAN CDC-like kinase 3 isoform a 262 Arg-rich. acrosomal vesicle|nucleus ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity stomach(2) 2 CACAAACGCCGCACCAGGTCT 0.617000 LYRM1 57149 broad.mit.edu 37 16 20926917 20926917 + Missense_Mutation SNP C C T rs149175521 byFrequency TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr16:20926917C>T uc010bwj.2 + 2 341 c.40C>T c.(40-42)CGC>TGC p.R14C LYRM1_uc010bwi.1_RNA|LYRM1_uc010bwk.2_Intron|LYRM1_uc002dia.3_Missense_Mutation_p.R14C|LYRM1_uc010bwl.2_Missense_Mutation_p.R14C|LYRM1_uc010bwm.2_Intron|LYRM1_uc002dib.2_Missense_Mutation_p.R14C NM_020424 NP_065157 O43325 LYRM1_HUMAN LYR motif containing 1 14 nucleus 0 TGGCCTCTACCGCAGCATTTT 0.463000 RANBP10 57610 broad.mit.edu 37 16 67762350 67762350 + Missense_Mutation SNP G G A rs146349352 TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr16:67762350G>A uc002eud.2 - 11 1533 c.1417C>T c.(1417-1419)CGC>TGC p.R473C RANBP10_uc010ceo.2_Missense_Mutation_p.R244C|RANBP10_uc010vju.1_Missense_Mutation_p.R447C|RANBP10_uc010vjv.1_Missense_Mutation_p.R386C|RANBP10_uc010vjw.1_Missense_Mutation_p.R164C NM_020850 NP_065901 Q6VN20 RBP10_HUMAN RAN binding protein 10 473 ovary(1) 1 Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192) OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157) TTAACAATGCGTGTGGACATG 0.587000 DDX28 55794 broad.mit.edu 37 16 68056517 68056517 + Missense_Mutation SNP C C G TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr16:68056517C>G uc002evh.1 - 1 1443 c.589G>C c.(589-591)GAC>CAC p.D197H DUS2L_uc002evi.2_5'Flank|DUS2L_uc002evj.2_5'Flank|DUS2L_uc010vkk.1_5'Flank NM_018380 NP_060850 Q9NUL7 DDX28_HUMAN DEAD (Asp-Glu-Ala-Asp) box polypeptide 28 197 Helicase ATP-binding. mitochondrial nucleoid|nucleus ATP binding|ATP-dependent helicase activity|RNA binding skin(1) 1 Ovarian(137;0.0563) OV - Ovarian serous cystadenocarcinoma(108;0.0116)|Epithelial(162;0.0474)|all cancers(182;0.233) GGAAGGGAGTCCAGGCTTGGC 0.657000 ADAMTS18 170692 broad.mit.edu 37 16 77387771 77387771 + Silent SNP C C A rs148669189 TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr16:77387771C>A uc002ffc.3 - 10 1892 c.1473G>T c.(1471-1473)GCG>GCT p.A491A ADAMTS18_uc010chc.1_Silent_p.A79A|ADAMTS18_uc002ffe.1_Silent_p.A187A NM_199355 NP_955387 Q8TE60 ATS18_HUMAN ADAM metallopeptidase with thrombospondin type 1 491 Peptidase M12B. proteolysis proteinaceous extracellular matrix metalloendopeptidase activity|zinc ion binding large_intestine(4)|lung(4)|kidney(4)|skin(3)|breast(1)|ovary(1)|pancreas(1) 18 CTAGACACCCCGCCTGAGGTG 0.418000 TP53 7157 broad.mit.edu 37 17 7578526 7578526 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr17:7578526C>T uc002gim.2 - 5 598 c.404G>A c.(403-405)TGC>TAC p.C135Y TP53_uc002gig.1_Missense_Mutation_p.C135Y|TP53_uc002gih.2_Missense_Mutation_p.C135Y|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.C3Y|TP53_uc010cng.1_Missense_Mutation_p.C3Y|TP53_uc002gii.1_Missense_Mutation_p.C3Y|TP53_uc010cnh.1_Missense_Mutation_p.C135Y|TP53_uc010cni.1_Missense_Mutation_p.C135Y|TP53_uc002gij.2_Missense_Mutation_p.C135Y|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.C42Y|TP53_uc002gio.2_Missense_Mutation_p.C3Y|TP53_uc010vug.1_Missense_Mutation_p.C96Y NM_001126112 NP_001119584 P04637 P53_HUMAN tumor protein p53 isoform a 135 Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity). C -> S (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> F (in sporadic cancers; somatic mutation). activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding p.C135Y(51)|p.C135F(34)|p.C135W(19)|p.C135S(10)|p.C135fs*35(9)|p.0?(7)|p.C135*(7)|p.C135G(6)|p.C135R(6)|p.C135C(5)|p.C135fs*14(2)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*36(1)|p.C135fs*15(1)|p.Y126fs*11(1)|p.C135_A138delCQLA(1)|p.C42Y(1)|p.C3Y(1)|p.M133fs*13(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(1) large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1) 22245 all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081) GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174) GGCCAGTTGGCAAAACATCTT 0.572000 111 Mis|N|F breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types Other_conserved_DNA_damage_response_genes Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019) MYH1 4619 broad.mit.edu 37 17 10408543 10408543 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr17:10408543C>T uc002gmo.2 - 21 2466 c.2372G>A c.(2371-2373)CGA>CAA p.R791Q uc002gml.1_Intron NM_005963 NP_005954 P12882 MYH1_HUMAN myosin, heavy chain 1, skeletal muscle, adult 791 IQ. muscle myosin complex|myofibril|myosin filament actin binding|ATP binding|calmodulin binding|motor activity ovary(10)|skin(6)|breast(3)|upper_aerodigestive_tract(1)|kidney(1) 21 GGCCTGGGTTCGGGTAATCAG 0.458000 ZSWIM7 125150 broad.mit.edu 37 17 15890590 15890590 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr17:15890590C>T uc002gpe.2 - 3 289 c.191G>A c.(190-192)CGT>CAT p.R64H ZSWIM7_uc002gpf.2_Missense_Mutation_p.R64H|ZSWIM7_uc002gpg.2_RNA NM_001042698 NP_001036163 Q19AV6 ZSWM7_HUMAN zinc finger, SWIM-type containing 7 64 DNA recombination|DNA repair nucleus zinc ion binding 0 UCEC - Uterine corpus endometrioid carcinoma (92;0.0827) CTGGTAAACACGCCTTCCACT 0.468000 FAM83G 644815 broad.mit.edu 37 17 18882956 18882956 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr17:18882956C>T uc002guw.2 - 4 888 c.721G>A c.(721-723)GAG>AAG p.E241K SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron NM_001039999 NP_001035088 A6ND36 FA83G_HUMAN hypothetical protein LOC644815 241 ovary(1)|central_nervous_system(1) 2 GTGAAGAACTCAGTTCCCCCG 0.582000 GOSR2 9570 broad.mit.edu 37 17 45009523 45009523 + Silent SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr17:45009523G>A uc002ila.2 + 4 367 c.294G>A c.(292-294)GAG>GAA p.E98E GOSR2_uc010wkh.1_Silent_p.E98E|GOSR2_uc002iky.2_Silent_p.E98E|GOSR2_uc002ikz.2_Silent_p.E98E NM_004287 NP_004278 O14653 GOSR2_HUMAN golgi SNAP receptor complex member 2 isoform A 98 Cytoplasmic (Potential).|Potential. cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport Golgi membrane|integral to membrane transporter activity ovary(1)|skin(1) 2 BRCA - Breast invasive adenocarcinoma(9;0.102) AGCAGCAGGAGAGACAGCGAG 0.567000 DLX3 1747 broad.mit.edu 37 17 48069062 48069062 + Missense_Mutation SNP C C T rs138972403 TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr17:48069062C>T uc002ipy.2 - 3 909 c.683G>A c.(682-684)CGC>CAC p.R228H NM_005220 NP_005211 O60479 DLX3_HUMAN distal-less homeobox 3 228 nucleus sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity 0 CAGCTGACTGCGGGCAGGGGC 0.637000 COX11 1353 broad.mit.edu 37 17 53042077 53042077 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr17:53042077G>A uc010wng.1 - 2 560 c.503C>T c.(502-504)CCT>CTT p.P168L COX11_uc010wne.1_RNA|COX11_uc010wnf.1_RNA|COX11_uc002iue.2_RNA|COX11_uc010wnh.1_Missense_Mutation_p.P168L NM_004375 NP_004366 Q9Y6N1 COX11_HUMAN COX11 homolog, cytochrome c oxidase assembly 168 Mitochondrial intermembrane (Potential).|Mitochondrial matrix (Potential). respiratory chain complex IV assembly|respiratory gaseous exchange integral to membrane|mitochondrial inner membrane copper ion binding|cytochrome-c oxidase activity|electron carrier activity ovary(1) 1 TGTTTGCTGAGGTCTAAAGTT 0.343000 PRKCA 5578 broad.mit.edu 37 17 64770166 64770166 + Missense_Mutation SNP A A G TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr17:64770166A>G uc002jfp.1 + 14 1630 c.1586A>G c.(1585-1587)TAT>TGT p.Y529C PRKCA_uc002jfo.1_Missense_Mutation_p.Y400C NM_002737 NP_002728 P17252 KPCA_HUMAN protein kinase C, alpha 529 Protein kinase. activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding central_nervous_system(4)|large_intestine(1)|stomach(1)|lung(1)|breast(1)|ovary(1) 9 BRCA - Breast invasive adenocarcinoma(6;4.68e-09) Phosphatidylserine(DB00144)|Vitamin E(DB00163) GTCCTGTTGTATGAAATGCTT 0.428000 RECQL5 9400 broad.mit.edu 37 17 73627718 73627718 + Silent SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr17:73627718G>A uc010dgl.2 - 9 1416 c.1260C>T c.(1258-1260)TTC>TTT p.F420F RECQL5_uc010dgk.2_Silent_p.F393F|RECQL5_uc002jot.3_5'Flank|LOC643008_uc002jow.2_5'Flank NM_004259 NP_004250 O94762 RECQ5_HUMAN RecQ protein-like 5 isoform 1 420 DNA recombination|DNA repair cytoplasm|nuclear membrane|nucleolus|nucleoplasm ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding kidney(3) 3 all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09) all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112) GCGCATCCCCGAAGTACTTGG 0.697000 Other_identified_genes_with_known_or_suspected_DNA_repair_function CCDC40 55036 broad.mit.edu 37 17 78013951 78013951 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr17:78013951C>T uc010dht.2 + 3 461 c.434C>T c.(433-435)GCC>GTC p.A145V CCDC40_uc010wub.1_Missense_Mutation_p.A145V NM_017950 NP_060420 Q4G0X9 CCD40_HUMAN coiled-coil domain containing 40 145 axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility cilium|cytoplasm ovary(3) 3 all_neural(118;0.167) OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149) CAGCAAGAGGCCACCGGTCCA 0.597000 SALL3 27164 broad.mit.edu 37 18 76752182 76752182 + Missense_Mutation SNP C C A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr18:76752182C>A uc002lmt.2 + 2 191 c.191C>A c.(190-192)GCG>GAG p.A64E SALL3_uc010dra.2_5'Flank NM_171999 NP_741996 Q9BXA9 SALL3_HUMAN sal-like 3 64 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(2)|large_intestine(1)|central_nervous_system(1) 4 Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167) OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256) TTCAAGTGGGCGGACTTCCTG 0.711000 KCNN1 3780 broad.mit.edu 37 19 18092786 18092786 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr19:18092786C>T uc002nht.2 + 5 1077 c.767C>T c.(766-768)TCG>TTG p.S256L KCNN1_uc010xqa.1_Missense_Mutation_p.S256L NM_002248 NP_002239 Q92952 KCNN1_HUMAN potassium intermediate/small conductance 256 synaptic transmission voltage-gated potassium channel complex calmodulin binding|small conductance calcium-activated potassium channel activity 0 ACGGACGCCTCGAGCCGCAGC 0.612000 ZNF675 171392 broad.mit.edu 37 19 23844925 23844925 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr19:23844925C>T uc002nri.2 - 3 399 c.217G>A c.(217-219)GAA>AAA p.E73K NM_138330 NP_612203 Q8TD23 ZN675_HUMAN zinc finger protein 675 73 KRAB. bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent cytoplasm|nucleus DNA binding|protein binding|zinc ion binding ovary(1)|kidney(1) 2 all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206) CCTGGGGGTTCATTCACCATC 0.418000 APLP1 333 broad.mit.edu 37 19 36363501 36363501 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr19:36363501C>T uc002oce.2 + 7 1105 c.967C>T c.(967-969)CGC>TGC p.R323C APLP1_uc010xsz.1_Missense_Mutation_p.R284C|APLP1_uc002ocf.2_Missense_Mutation_p.R323C|APLP1_uc002ocg.2_Missense_Mutation_p.R226C|APLP1_uc010xta.1_Missense_Mutation_p.R317C NM_005166 NP_005157 P51693 APLP1_HUMAN amyloid precursor-like protein 1 isoform 2 323 Heparin-binding (By similarity).|Extracellular (Potential). apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding ovary(2) 2 all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162) LUSC - Lung squamous cell carcinoma(66;0.0515) GCGTAGGATGCGCCAGATTAA 0.537000 C2orf43 60526 broad.mit.edu 37 2 20990056 20990056 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr2:20990056G>A uc002rec.2 - 3 290 c.257C>T c.(256-258)GCG>GTG p.A86V C2orf43_uc002rea.1_Missense_Mutation_p.A86V|C2orf43_uc002reb.1_RNA|C2orf43_uc010yka.1_Intron|C2orf43_uc010ykb.1_5'UTR|C2orf43_uc010ykc.1_Intron|C2orf43_uc010ykd.1_Missense_Mutation_p.A86V|C2orf43_uc010yke.1_Intron|C2orf43_uc010ykf.1_Intron NM_021925 NP_068744 Q9H6V9 CB043_HUMAN hypothetical protein LOC60526 86 0 Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215) GGGAGCCAACGCATGCCCAGC 0.423000 LTBP1 4052 broad.mit.edu 37 2 33572523 33572523 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr2:33572523G>A uc002ros.2 + 26 3949 c.3949G>A c.(3949-3951)GAA>AAA p.E1317K LTBP1_uc002rot.2_Missense_Mutation_p.E991K|LTBP1_uc002rou.2_Missense_Mutation_p.E990K|LTBP1_uc002rov.2_Missense_Mutation_p.E937K|LTBP1_uc010ymz.1_Missense_Mutation_p.E948K|LTBP1_uc010yna.1_Missense_Mutation_p.E895K|LTBP1_uc010ynb.1_Missense_Mutation_p.E214K NM_206943 NP_996826 Q14766 LTBP1_HUMAN latent transforming growth factor beta binding 1316 EGF-like 14; calcium-binding (Potential). negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta proteinaceous extracellular matrix calcium ion binding|growth factor binding|transforming growth factor beta receptor activity ovary(3)|skin(2)|upper_aerodigestive_tract(1)|lung(1)|central_nervous_system(1) 8 all_hematologic(175;0.115) Medulloblastoma(90;0.215) GTGTGCTGATGAAAACCAAGA 0.542000 GALNT5 11227 broad.mit.edu 37 2 158167802 158167802 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr2:158167802C>T uc002tzg.2 + 10 3020 c.2765C>T c.(2764-2766)GCC>GTC p.A922V GALNT5_uc010zci.1_RNA NM_014568 NP_055383 Q7Z7M9 GALT5_HUMAN N-acetylgalactosaminyltransferase 5 922 Lumenal (Potential).|Ricin B-type lectin. glycosaminoglycan biosynthetic process Golgi membrane|integral to membrane polypeptide N-acetylgalactosaminyltransferase activity|sugar binding breast(3)|skin(1) 4 AAAGTAGCTGCCTGTGACCCA 0.338000 ANKRD44 91526 broad.mit.edu 37 2 197987478 197987478 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr2:197987478C>T uc002uuc.2 - 7 756 c.589G>A c.(589-591)GCA>ACA p.A197T ANKRD44_uc002utz.3_5'UTR|ANKRD44_uc002uua.1_Missense_Mutation_p.A172T|ANKRD44_uc002uub.2_Missense_Mutation_p.A197T|ANKRD44_uc010zgw.1_Missense_Mutation_p.A125T NM_153697 NP_710181 Q8N8A2 ANR44_HUMAN ankyrin repeat domain 44 197 ANK 6. protein binding ovary(4)|skin(1) 5 OV - Ovarian serous cystadenocarcinoma(117;0.246) GTCACTTCTGCGCCATGGTTA 0.438000 CASP8 841 broad.mit.edu 37 2 202137426 202137426 + Silent SNP C C A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr2:202137426C>A uc002uxr.1 + 5 686 c.477C>A c.(475-477)ATC>ATA p.I159I CASP8_uc010ftc.1_Silent_p.I159I|CASP8_uc002uxo.1_Silent_p.I159I|CASP8_uc002uxp.1_Silent_p.I191I|CASP8_uc002uxq.1_Silent_p.I159I|CASP8_uc002uxs.1_Silent_p.I159I|CASP8_uc002uxt.1_Silent_p.I218I|CASP8_uc002uxu.1_RNA|CASP8_uc010ftd.1_Silent_p.I56I|CASP8_uc002uxv.1_Silent_p.I159I|CASP8_uc002uxw.1_Silent_p.I159I|CASP8_uc002uxy.1_Silent_p.I159I|CASP8_uc002uxx.1_Silent_p.I159I|CASP8_uc010ftf.2_Silent_p.I159I|CASP8_uc010fte.1_Silent_p.I56I NM_033355 NP_203519 Q14790 CASP8_HUMAN caspase 8 isoform B precursor 159 DED 2. activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor centrosome|cytosol|mitochondrial outer membrane cysteine-type endopeptidase activity|protein binding|protein binding upper_aerodigestive_tract(2)|ovary(1)|breast(1)|skin(1) 5 AGTTGGACATCCTGAAAAGAG 0.438000 HNSCC(4;0.00038) ProSAPiP1 9762 broad.mit.edu 37 20 3146981 3146981 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr20:3146981G>A uc002wia.1 - 2 1883 c.485C>T c.(484-486)TCG>TTG p.S162L ProSAPiP1_uc002wib.1_Missense_Mutation_p.S162L NM_014731 NP_055546 O60299 PRIP1_HUMAN ProSAPiP1 protein 162 cell junction|cytoplasm|postsynaptic density|postsynaptic membrane pancreas(1) 1 CTTGAAGGCCGACGGCCGAAC 0.627000 JAG1 182 broad.mit.edu 37 20 10626625 10626625 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr20:10626625C>T uc002wnw.2 - 15 2509 c.1993G>A c.(1993-1995)GAA>AAA p.E665K JAG1_uc010gcd.1_Missense_Mutation_p.E223K NM_000214 NP_000205 P78504 JAG1_HUMAN jagged 1 precursor 665 Extracellular (Potential).|EGF-like 11; calcium-binding (Potential). angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation extracellular region|integral to plasma membrane calcium ion binding|growth factor activity|Notch binding|structural molecule activity lung(3)|ovary(2)|central_nervous_system(2)|breast(1)|pancreas(1) 9 TCACTGGTTTCACAGTAGGCC 0.512000 Alagille_Syndrome C20orf26 26074 broad.mit.edu 37 20 20144800 20144800 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr20:20144800G>A uc002wru.2 + 11 1209 c.1133G>A c.(1132-1134)CGC>CAC p.R378H C20orf26_uc010gcw.1_Missense_Mutation_p.R332H|C20orf26_uc010zse.1_Missense_Mutation_p.R378H|C20orf26_uc010zsf.1_Missense_Mutation_p.R378H NM_015585 NP_056400 Q8NHU2 CT026_HUMAN hypothetical protein LOC26074 378 ovary(3)|pancreas(1) 4 READ - Rectum adenocarcinoma(2;0.171) GTCCACTTCCGCCCCATCTAC 0.498000 C20orf185 359710 broad.mit.edu 37 20 31644485 31644485 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr20:31644485G>A uc002wym.1 + 2 262 c.262G>A c.(262-264)GTT>ATT p.V88I NM_182658 NP_872599 P59826 LPLC3_HUMAN antimicrobial peptide RYA3 precursor 88 Leu-rich. innate immune response cytoplasm|extracellular region lipid binding|protein binding ovary(4) 4 GGTTTTTGGCGTTGTCGAGGA 0.577000 CYP24A1 1591 broad.mit.edu 37 20 52773733 52773733 + Silent SNP C C T rs150155645 TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr20:52773733C>T uc002xwv.2 - 11 1928 c.1530G>A c.(1528-1530)GCG>GCA p.A510A CYP24A1_uc002xwu.1_Silent_p.A368A|CYP24A1_uc002xww.2_Silent_p.A444A NM_000782 NP_000773 Q07973 CP24A_HUMAN cytochrome P450 family 24 subfamily A 510 hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process mitochondrial inner membrane 1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen upper_aerodigestive_tract(1)|ovary(1)|lung(1) 3 Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05) STAD - Stomach adenocarcinoma(23;0.206) Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910) GCTGGCAAAACGCGATGGGGA 0.428000 OLIG2 10215 broad.mit.edu 37 21 34399178 34399178 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr21:34399178C>T uc002yqx.1 + 2 166 c.8C>T c.(7-9)TCG>TTG p.S3L NM_005806 NP_005797 Q13516 OLIG2_HUMAN oligodendrocyte lineage transcription factor 2 3 cytoplasm|nucleus|plasma membrane DNA binding central_nervous_system(2) 2 GCCATGGACTCGGACGCCAGC 0.582000 T TRA@ T-ALL DIP2A 23181 broad.mit.edu 37 21 47918652 47918652 + Silent SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr21:47918652G>A uc002zjo.2 + 5 744 c.561G>A c.(559-561)CCG>CCA p.P187P DIP2A_uc011afy.1_Silent_p.P123P|DIP2A_uc011afz.1_Silent_p.P187P|DIP2A_uc002zjl.2_Silent_p.P187P|DIP2A_uc002zjm.2_Silent_p.P187P|DIP2A_uc010gql.2_Silent_p.P187P|DIP2A_uc002zjn.2_Silent_p.P187P NM_015151 NP_055966 Q14689 DIP2A_HUMAN disco-interacting protein 2A isoform a 187 multicellular organismal development nucleus catalytic activity|transcription factor binding ovary(2) 2 Breast(49;0.0933) Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824) CATCTCACCCGGGAGGGAGAC 0.672000 SNAP29 9342 broad.mit.edu 37 22 21224688 21224688 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr22:21224688G>A uc011ahw.1 + 2 408 c.301G>A c.(301-303)GAT>AAT p.D101N NM_004782 NP_004773 O95721 SNP29_HUMAN synaptosomal-associated protein 29 101 Potential. cellular membrane fusion|exocytosis|protein transport|vesicle targeting cell junction|cytoplasm|nucleus|synapse|synaptosome SNAP receptor activity 0 all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142) Lung SC(17;0.0262) LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117) GATGGACCAAGATTTGAAGAT 0.507000 CBX6 23466 broad.mit.edu 37 22 39262882 39262882 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr22:39262882C>T uc003awl.2 - 5 634 c.571G>A c.(571-573)GGG>AGG p.G191R NM_014292 NP_055107 O95503 CBX6_HUMAN chromobox homolog 6 191 chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent PcG protein complex 0 Melanoma(58;0.04) gccccctgcccggcgcccccg 0.453000 C3orf31 132001 broad.mit.edu 37 3 11880697 11880697 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr3:11880697G>A uc003bwh.2 - 3 652 c.410C>T c.(409-411)CCG>CTG p.P137L C3orf31_uc003bwj.2_Missense_Mutation_p.P137L|C3orf31_uc003bwi.2_RNA|C3orf31_uc011auo.1_Missense_Mutation_p.P137L|C3orf31_uc011aup.1_RNA|C3orf31_uc010hdy.1_RNA NM_138807 NP_620162 Q96BW9 MMP37_HUMAN MMP37-like protein, mitochondrial precursor 137 protein import into mitochondrial matrix extrinsic to mitochondrial inner membrane 0 aacaCTCACCGGTTTTTGGAG 0.209000 RHOA 387 broad.mit.edu 37 3 49405963 49405963 + Missense_Mutation SNP C C A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr3:49405963C>A uc003cwu.2 - 3 451 c.175G>T c.(175-177)GAC>TAC p.D59Y RHOA_uc010hku.2_5'UTR NM_001664 NP_001655 P61586 RHOA_HUMAN ras homolog gene family, member A precursor 59 GTP (By similarity). axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) CCAGCTGTGTCCCACAAAGCC 0.463000 RHOA 387 broad.mit.edu 37 3 49412898 49412898 + Missense_Mutation SNP T T G TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr3:49412898T>G uc003cwu.2 - 2 401 c.125A>C c.(124-126)TAT>TCT p.Y42S RHOA_uc010hku.2_5'UTR NM_001664 NP_001655 P61586 RHOA_HUMAN ras homolog gene family, member A precursor 42 Effector region (Potential). axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis cytoskeleton|cytosol|plasma membrane GTP binding|GTPase activity|myosin binding ovary(2) 2 BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258) Atorvastatin(DB01076)|Simvastatin(DB00641) ATCTGCCACATAGTTCTCAAA 0.433000 FAM19A4 151647 broad.mit.edu 37 3 68934432 68934432 + Translation_Start_Site SNP G G A rs76914752 byFrequency TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr3:68934432G>A uc003dnh.1 - 2 351 c.-92C>T c.(-94--90)AACGG>AATGG FAM19A4_uc003dni.1_Translation_Start_Site NM_182522 NP_872328 Q96LR4 F19A4_HUMAN family with sequence similarity 19 (chemokine extracellular region skin(2) 2 Lung NSC(201;0.0198) BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904) CATTTCTGCCGTTCCAAAAAA 0.333000 BOC 91653 broad.mit.edu 37 3 112998786 112998786 + Silent SNP C C T rs147219655 TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr3:112998786C>T uc003dzx.2 + 13 2757 c.2136C>T c.(2134-2136)CCC>CCT p.P712P BOC_uc003dzy.2_Silent_p.P712P|BOC_uc003dzz.2_Silent_p.P713P|BOC_uc003eab.2_Silent_p.P413P|BOC_uc003eac.2_Silent_p.P27P NM_033254 NP_150279 Q9BWV1 BOC_HUMAN brother of CDO precursor 712 Fibronectin type-III 3.|Extracellular (Potential). cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation integral to membrane|plasma membrane protein binding ovary(3)|breast(1)|central_nervous_system(1)|pancreas(1) 6 Epithelial(53;0.227) ACGAGAGGCCCGTGGCAGGTC 0.627000 SENP2 59343 broad.mit.edu 37 3 185335332 185335332 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr3:185335332C>T uc003fpn.2 + 12 1346 c.1175C>T c.(1174-1176)GCT>GTT p.A392V SENP2_uc011brv.1_Missense_Mutation_p.A382V|SENP2_uc011brw.1_Missense_Mutation_p.A205V NM_021627 NP_067640 Q9HC62 SENP2_HUMAN SUMO1/sentrin/SMT3 specific protease 2 392 mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway cytoplasm|nuclear membrane|nuclear pore protein binding|SUMO-specific protease activity 0 all_cancers(143;1.28e-10)|Ovarian(172;0.0386) OV - Ovarian serous cystadenocarcinoma(80;1.31e-21) CTAAGTAGTGCTTTCAAATTG 0.388000 PDCL2 132954 broad.mit.edu 37 4 56448359 56448359 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr4:56448359C>T uc003hbb.2 - 2 155 c.52G>A c.(52-54)GGC>AGC p.G18S NM_152401 NP_689614 Q8N4E4 PDCL2_HUMAN phosducin-like 2 18 0 Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101) LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669) GGAAGAATGCCGAAATCTCTT 0.338000 ENPEP 2028 broad.mit.edu 37 4 111398070 111398070 + Missense_Mutation SNP A A C TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr4:111398070A>C uc003iab.3 + 1 842 c.500A>C c.(499-501)GAG>GCG p.E167A NM_001977 NP_001968 Q07075 AMPE_HUMAN glutamyl aminopeptidase 167 Extracellular (Potential). cell migration|cell proliferation|cell-cell signaling|proteolysis integral to plasma membrane aminopeptidase activity|metalloexopeptidase activity|zinc ion binding skin(3)|ovary(1)|breast(1) 5 Hepatocellular(203;0.217) OV - Ovarian serous cystadenocarcinoma(123;0.0031) L-Glutamic Acid(DB00142) AAAAAGCAGGAGTACGTGGTG 0.627000 DNAH5 1767 broad.mit.edu 37 5 13885264 13885264 + Silent SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr5:13885264C>T uc003jfd.2 - 19 2859 c.2817G>A c.(2815-2817)ACG>ACA p.T939T NM_001369 NP_001360 Q8TE73 DYH5_HUMAN dynein, axonemal, heavy chain 5 939 Stem (By similarity). microtubule-based movement cilium axoneme|cytoplasm|microtubule ATP binding|ATPase activity|microtubule motor activity ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1) 31 Lung NSC(4;0.00476) TCGTGACTGTCGTCAAAAGCA 0.418000 Kartagener_syndrome PCDHB3 56132 broad.mit.edu 37 5 140481829 140481829 + Silent SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr5:140481829C>T uc003lio.2 + 1 1596 c.1596C>T c.(1594-1596)GGC>GGT p.G532G uc003lin.2_5'Flank NM_018937 NP_061760 Q9Y5E6 PCDB3_HUMAN protocadherin beta 3 precursor 532 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding ovary(1)|pancreas(1) 2 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TCCGCGTGGGCGCCACAGACC 0.672000 PCDHB7 56129 broad.mit.edu 37 5 140554097 140554097 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr5:140554097G>A uc003lit.2 + 1 1855 c.1681G>A c.(1681-1683)GTG>ATG p.V561M NM_018940 NP_061763 Q9Y5E2 PCDB7_HUMAN protocadherin beta 7 precursor 561 Extracellular (Potential).|Cadherin 5. calcium-dependent cell-cell adhesion|homophilic cell adhesion integral to membrane|plasma membrane calcium ion binding ovary(4)|central_nervous_system(1)|skin(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) CTCGCCCTTCGTGCTGTACCC 0.731000 PCDHB11 56125 broad.mit.edu 37 5 140579705 140579705 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr5:140579705G>A uc003liy.2 + 1 358 c.358G>A c.(358-360)GAG>AAG p.E120K PCDHB11_uc011daj.1_Intron NM_018931 NP_061754 Q9Y5F2 PCDBB_HUMAN protocadherin beta 11 precursor 120 Extracellular (Potential).|Cadherin 1. calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission integral to plasma membrane calcium ion binding skin(3)|ovary(2)|upper_aerodigestive_tract(1) 6 KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339) TTTACAAATTGAGCTTCAGGT 0.463000 GMDS 2762 broad.mit.edu 37 6 1961067 1961067 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr6:1961067C>T uc003mtq.2 - 5 669 c.479G>A c.(478-480)GGG>GAG p.G160E NM_001500 NP_001491 O60547 GMDS_HUMAN GDP-mannose 4,6-dehydratase 160 'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion coenzyme binding|GDP-mannose 4,6-dehydratase activity central_nervous_system(1) 1 Ovarian(93;0.0733) all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802) Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563) CTGCACTTTCCCATAAAGTTC 0.498000 HIST1H1A 3024 broad.mit.edu 37 6 26017492 26017492 + Missense_Mutation SNP T T C TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr6:26017492T>C uc003nfo.2 - 1 549 c.469A>G c.(469-471)AAA>GAA p.K157E NM_005325 NP_005316 Q02539 H11_HUMAN histone cluster 1, H1a 157 nucleosome assembly|spermatogenesis nucleosome|nucleus DNA binding ovary(2) 2 GCAGGCTTTTTAGCCTTTTTC 0.453000 AKAP12 9590 broad.mit.edu 37 6 151670244 151670244 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr6:151670244G>A uc011eep.1 + 4 958 c.718G>A c.(718-720)GAA>AAA p.E240K AKAP12_uc003qoe.2_Missense_Mutation_p.E240K|AKAP12_uc003qof.2_Missense_Mutation_p.E142K|AKAP12_uc010kim.2_Intron|AKAP12_uc003qog.2_Missense_Mutation_p.E135K NM_005100 NP_005091 Q02952 AKA12_HUMAN A kinase (PRKA) anchor protein 12 isoform 1 240 E -> K (in a colorectal cancer sample; somatic mutation). G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting cell cortex|cytoskeleton|plasma membrane adenylate cyclase binding|protein kinase A binding p.E240K(1) large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)|lung(1)|skin(1)|pancreas(1) 8 Ovarian(120;0.125) BRCA - Breast invasive adenocarcinoma(37;0.175) OV - Ovarian serous cystadenocarcinoma(155;2.98e-11) AGAGAAACCCGAAGAGACCCT 0.557000 EGFR 1956 broad.mit.edu 37 7 55211010 55211010 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr7:55211010G>A uc003tqk.2 + 3 499 c.253G>A c.(253-255)GTG>ATG p.V85M EGFR_uc003tqh.2_Missense_Mutation_p.V85M|EGFR_uc003tqi.2_Missense_Mutation_p.V85M|EGFR_uc003tqj.2_Missense_Mutation_p.V85M|EGFR_uc010kzg.1_Missense_Mutation_p.V85M|EGFR_uc011kco.1_Missense_Mutation_p.V32M NM_005228 NP_005219 P00533 EGFR_HUMAN epidermal growth factor receptor isoform a 85 Approximate.|Extracellular (Potential). activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity p.V30_R297>G(5) lung(9213)|central_nervous_system(103)|stomach(41)|upper_aerodigestive_tract(39)|prostate(32)|ovary(31)|thyroid(24)|breast(11)|peritoneum(9)|oesophagus(9)|salivary_gland(9)|large_intestine(8)|kidney(8)|urinary_tract(6)|skin(5)|adrenal_gland(5)|soft_tissue(4)|bone(3)|NS(2)|pancreas(2)|haematopoietic_and_lymphoid_tissue(2)|thymus(2)|liver(2)|eye(1) 9571 all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318) GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607) Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072) CATCCAGGAGGTGGCTGGTTA 0.448000 8 A|O|Mis glioma|NSCLC NSCLC Lung_Cancer_Familial_Clustering_of TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08) ZNF479 90827 broad.mit.edu 37 7 57187764 57187764 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr7:57187764G>A uc010kzo.2 - 5 1629 c.1358C>T c.(1357-1359)ACT>ATT p.T453I NM_033273 NP_150376 Q96JC4 ZN479_HUMAN zinc finger protein 479 453 C2H2-type 10. regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding ovary(3)|skin(1) 4 GBM - Glioblastoma multiforme(1;9.18e-12) CTTGTGGTCAGTGAGGGTTGA 0.428000 TRRAP 8295 broad.mit.edu 37 7 98550831 98550831 + Silent SNP G G C TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr7:98550831G>C uc003upp.2 + 39 5693 c.5484G>C c.(5482-5484)CTG>CTC p.L1828L TRRAP_uc011kis.1_Silent_p.L1810L|TRRAP_uc003upr.2_Silent_p.L1527L NM_003496 NP_003487 Q9Y4A5 TRRAP_HUMAN transformation/transcription domain-associated 1828 histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1) 37 all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274) STAD - Stomach adenocarcinoma(171;0.215) TGGACTCGCTGCGGATCTACC 0.602000 PLXNA4 91584 broad.mit.edu 37 7 131878892 131878892 + Missense_Mutation SNP A A G TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr7:131878892A>G uc003vra.3 - 14 3014 c.2785T>C c.(2785-2787)TTC>CTC p.F929L NM_020911 NP_065962 Q9HCM2 PLXA4_HUMAN plexin A4 isoform 1 929 IPT/TIG 1.|Extracellular (Potential). integral to membrane|intracellular|plasma membrane ovary(1) 1 ATCTCCACGAAGCCTGCATGC 0.582000 TRPV6 55503 broad.mit.edu 37 7 142569461 142569461 + Silent SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr7:142569461C>T uc003wbx.1 - 15 2393 c.2177G>A c.(2176-2178)TGA>TAA p.*726* TRPV6_uc003wbw.1_Silent_p.*512*|TRPV6_uc010lou.1_Silent_p.*597* NM_018646 NP_061116 Q9H1D0 TRPV6_HUMAN transient receptor potential cation channel, 726 regulation of calcium ion-dependent exocytosis integral to plasma membrane calcium channel activity|calmodulin binding ovary(2) 2 Melanoma(164;0.059) AACACGCAGTCAGATCTGATA 0.532000 ADRA1A 148 broad.mit.edu 37 8 26627887 26627887 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr8:26627887C>T uc003xfh.1 - 2 1616 c.1180G>A c.(1180-1182)GTT>ATT p.V394I ADRA1A_uc003xfc.1_Missense_Mutation_p.V394I|ADRA1A_uc010lul.1_Intron|ADRA1A_uc003xfd.1_Intron|ADRA1A_uc003xfe.1_Missense_Mutation_p.V394I|ADRA1A_uc010lum.1_Intron|ADRA1A_uc003xff.1_Intron|ADRA1A_uc003xfg.1_Missense_Mutation_p.V394I NM_000680 NP_000671 P35348 ADA1A_HUMAN alpha-1A-adrenergic receptor isoform 1 394 Cytoplasmic (By similarity). activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction integral to plasma membrane alpha1-adrenergic receptor activity breast(2)|ovary(1)|lung(1)|skin(1) 5 all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118) UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115) Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246) CATTCACAAACGCCATCCGTC 0.552000 RP1 6101 broad.mit.edu 37 8 55539912 55539912 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr8:55539912C>T uc003xsd.1 + 4 3618 c.3470C>T c.(3469-3471)TCT>TTT p.S1157F RP1_uc011ldy.1_Intron NM_006269 NP_006260 P56715 RP1_HUMAN retinitis pigmentosa RP1 protein 1157 axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment microtubule binding skin(7)|ovary(4)|pancreas(1) 12 all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123) OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285) ACCAACAAATCTTCAGAAACA 0.418000 RUNX1T1 862 broad.mit.edu 37 8 93004103 93004103 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr8:93004103C>T uc003yfd.2 - 6 839 c.755G>A c.(754-756)GGC>GAC p.G252D RUNX1T1_uc003yfc.1_Missense_Mutation_p.G225D|RUNX1T1_uc003yfe.1_Missense_Mutation_p.G215D|RUNX1T1_uc010mao.2_Missense_Mutation_p.G225D|RUNX1T1_uc011lgi.1_Missense_Mutation_p.G263D|RUNX1T1_uc010man.1_5'UTR|RUNX1T1_uc003yfb.1_Missense_Mutation_p.G215D NM_175634 NP_783552 Q06455 MTG8_HUMAN acute myelogenous leukemia 1 translocation 1 252 generation of precursor metabolites and energy nucleus DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding lung(9)|large_intestine(3)|breast(2)|central_nervous_system(1)|pancreas(1) 16 BRCA - Breast invasive adenocarcinoma(11;0.0141) TCTGTCAAAGCCATTTTCTTT 0.433000 TAF1L 138474 broad.mit.edu 37 9 32630240 32630240 + Missense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr9:32630240C>T uc003zrg.1 - 1 5428 c.5338G>A c.(5338-5340)GAA>AAA p.E1780K NM_153809 NP_722516 Q8IZX4 TAF1L_HUMAN TBP-associated factor RNA polymerase 1-like 1780 male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent transcription factor TFIID complex DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1) 26 LUSC - Lung squamous cell carcinoma(29;0.0181) GBM - Glioblastoma multiforme(74;0.00301) TCTCCTTCTTCGTCACTCCCA 0.453000 PGM5 5239 broad.mit.edu 37 9 71002420 71002420 + Missense_Mutation SNP C C T rs138311393 TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr9:71002420C>T uc004agr.2 + 4 842 c.613C>T c.(613-615)CGG>TGG p.R205W NM_021965 NP_068800 Q15124 PGM5_HUMAN phosphoglucomutase 5 205 cell adhesion|cellular calcium ion homeostasis|glucose metabolic process costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity ovary(1)|pancreas(1) 2 TAACCTCCTTCGGACCATCTT 0.428000 PHEX 5251 broad.mit.edu 37 X 22263519 22263519 + Nonsense_Mutation SNP C C T TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chrX:22263519C>T uc004dah.2 + 21 2343 c.2140C>T c.(2140-2142)CAG>TAG p.Q714* PHEX_uc011mjr.1_Intron|PHEX_uc011mjs.1_Nonsense_Mutation_p.Q617* NM_000444 NP_000435 P78562 PHEX_HUMAN phosphate-regulating neutral endopeptidase 714 biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development integral to plasma membrane aminopeptidase activity|metalloendopeptidase activity|zinc ion binding ovary(2)|lung(1) 3 CAGTCCCCCTCAGTTTAGGTA 0.512000 DMD 1756 broad.mit.edu 37 X 31792190 31792190 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chrX:31792190G>A uc004dda.1 - 51 7673 c.7429C>T c.(7429-7431)CGG>TGG p.R2477W DMD_uc004dcr.1_Missense_Mutation_p.R17W|DMD_uc004dcs.1_Missense_Mutation_p.R17W|DMD_uc004dct.1_Missense_Mutation_p.R17W|DMD_uc004dcu.1_Missense_Mutation_p.R17W|DMD_uc004dcv.1_Missense_Mutation_p.R17W|DMD_uc004dcw.2_Missense_Mutation_p.R1133W|DMD_uc004dcx.2_Missense_Mutation_p.R1136W|DMD_uc004dcz.2_Missense_Mutation_p.R2354W|DMD_uc004dcy.1_Missense_Mutation_p.R2473W|DMD_uc004ddb.1_Missense_Mutation_p.R2469W|DMD_uc004ddd.1_Missense_Mutation_p.R17W NM_004006 NP_003997 P11532 DMD_HUMAN dystrophin Dp427m isoform 2477 Spectrin 17. muscle filament sliding|peptide biosynthetic process cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding ovary(3)|pancreas(2)|large_intestine(1) 6 all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203) GTCCAAGCCCGGTTGAAATCT 0.463000 MAGEE2 139599 broad.mit.edu 37 X 75004703 75004703 + Missense_Mutation SNP C C A rs142989384 TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chrX:75004703C>A uc004ecj.1 - 1 369 c.184G>T c.(184-186)GTT>TTT p.V62F NM_138703 NP_619648 Q8TD90 MAGE2_HUMAN melanoma antigen family E, 2 62 ovary(1)|skin(1) 2 GGGTCCTGAACGGCCTGGGAA 0.592000 DCAF12L1 139170 broad.mit.edu 37 X 125685294 125685294 + Missense_Mutation SNP G G A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chrX:125685294G>A uc004eul.2 - 1 1549 c.1298C>T c.(1297-1299)ACC>ATC p.T433I NM_178470 NP_848565 Q5VU92 DC121_HUMAN DDB1 and CUL4 associated factor 12-like 1 433 skin(3)|ovary(1) 4 GTAGCAGTGGGTGTAGAGCGC 0.552000 UBE2NL 389898 broad.mit.edu 37 X 142967424 142967424 + Silent SNP C C A TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chrX:142967424C>A uc004fca.2 + 1 252 c.222C>A c.(220-222)ACC>ACA p.T74T NM_001012989 NP_001013007 Q5JXB2 UE2NL_HUMAN ubiquitin-conjugating enzyme E2N-like 74 acid-amino acid ligase activity 0 Acute lymphoblastic leukemia(192;6.56e-05) GTTTCATGACCAAAATTTATC 0.413000 F8 2157 broad.mit.edu 37 X 154197692 154197692 + Missense_Mutation SNP G G A rs137852404 TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chrX:154197692G>A uc004fmt.2 - 7 1094 c.923C>T c.(922-924)TCG>TTG p.S308L NM_000132 NP_000123 P00451 FA8_HUMAN coagulation factor VIII isoform a precursor 308 Plastocyanin-like 2.|F5/8 type A 1. acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation extracellular space|plasma membrane|platelet alpha granule lumen copper ion binding|oxidoreductase activity|protein binding ovary(5)|large_intestine(2)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1) 11 all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214) Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055) AGTTATTGGCGAGATTTCCAA 0.448000 ZNF329 79673 broad.mit.edu 37 19 58640848 58640850 + In_Frame_Del DEL CGA CGA - TCGA-D7-6521-01A-11D-1800-08 TCGA-D7-6521-10A-01D-1800-08 Untested Somatic Phase_I WXS none Illumina GAIIx af27d5e0-d709-4e53-949d-cd7cd7bfb970 9f181c29-67a5-43b4-afc3-eaf51936888d g.chr19:58640847_58640849CCGA>C uc002qrn.3 - 3 259_261 c.22_24TCGG>G c.(22-24)cgg>G p.R8del ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_In_Frame_Del_p.R8del NM_024620 NP_078896 Q86UD4 ZN329_HUMAN Homo sapiens zinc finger protein 329 (ZNF329), mRNA. 8 regulation of transcription, DNA-dependent|transcription, DNA-dependent nucleus DNA binding|zinc ion binding p.R8W(2) NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1) 20 Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157) UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216) CAGGAAAATTCCGAGTCGTCATT 0.399